#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_ACHILLES_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
SCNN1D	6339	broad.mit.edu	37	1	1222975	1222975	+	Splice_Site	SNP	C	C	G	rs147342518		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:1222975C>G	ENST00000338555.2	+	7	2050	c.906C>G	c.(904-906)caC>caG	p.H302Q	SCNN1D_ENST00000400928.3_Splice_Site_p.H302Q|SCNN1D_ENST00000325425.8_Splice_Site_p.H368Q|SCNN1D_ENST00000379116.5_Splice_Site_p.H466Q			P51172	SCNND_HUMAN	sodium channel, non-voltage-gated 1, delta subunit	302					ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ligand-gated sodium channel activity (GO:0015280)			lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	Amiloride(DB00594)|Triamterene(DB00384)	GCATCACCCACGGTGGGTGCC	0.682																																							uc001adu.1		NA																	0					0						c.(904-906)CAC>CAG		sodium channel, nonvoltage-gated 1, delta							31.0	33.0	32.0					1																	1222975		2195	4293	6488	SO:0001630	splice_region_variant	6339							g.chr1:1222975C>G	U38254	CCDS44037.1, CCDS44037.2	1p36.3-p36.2	2012-02-28	2012-02-28		ENSG00000162572	ENSG00000162572		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10601	protein-coding gene	gene with protein product		601328	"""sodium channel, nonvoltage-gated 1, delta"", ""sodium channel, non-voltage-gated 1, delta"""			8661065	Standard	NM_001130413		Approved	ENaCdelta, dNaCh	uc001adt.1	P51172	OTTHUMG00000002081	ENST00000338555.2:c.907+1C>G	1.37:g.1222975C>G						SCNN1D_uc001adt.1_Missense_Mutation_p.H466Q|SCNN1D_uc001adw.2_Missense_Mutation_p.H368Q|SCNN1D_uc001adx.2_Missense_Mutation_p.T66R|SCNN1D_uc001adv.2_Missense_Mutation_p.H302Q	p.H302Q	NM_002978	NP_002969				Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	9	1530	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)						A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24	Missense_Mutation	SNP	ENST00000338555.2	37	c.906C>G		.	.	.	.	.	.	.	.	.	.	C	12.40	1.925571	0.34002	.	.	ENSG00000162572	ENST00000379110;ENST00000379116;ENST00000338555;ENST00000325425;ENST00000400928;ENST00000379099	T;T;T;T	0.62232	0.04;0.04;0.04;0.04	4.05	-7.03	0.01584	.	0.230984	0.29876	N	0.010970	T	0.46190	0.1380	M	0.71581	2.175	0.09310	N	0.999993	B;B	0.31413	0.288;0.322	B;B	0.32864	0.154;0.13	T	0.35126	-0.9801	10	0.32370	T	0.25	.	1.6114	0.02694	0.2174:0.2153:0.0963:0.471	.	302;466	P51172;A6NNF7	SCNND_HUMAN;.	Q	333;466;302;368;302;93	ENSP00000368411:H466Q;ENSP00000339504:H302Q;ENSP00000321594:H368Q;ENSP00000383717:H302Q	ENSP00000321594:H368Q	H	+	3	2	SCNN1D	1212838	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-2.187000	0.01250	-1.268000	0.02439	0.313000	0.20887	CAC		0.682	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000005802.2	NM_002978	Missense_Mutation	12	29	0	0	0	0.000978	0	12	29				
CFAP74	85452	broad.mit.edu	37	1	1902213	1902213	+	IGR	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:1902213C>A								TMEM52 (51501 upstream) : C1orf222 (17349 downstream)																							TCCGCCAGCTCTGCCTTGGCA	0.627																																							uc001aim.1		NA																	0				pancreas(1)	1						c.(931-933)GAG>TAG		hypothetical protein LOC85452							75.0	85.0	82.0					1																	1902213		2193	4275	6468	SO:0001628	intergenic_variant	85452							g.chr1:1902213C>A																													1.37:g.1902213C>A						KIAA1751_uc009vkz.1_Nonsense_Mutation_p.E311*	p.E311*	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)	10	1087	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	311			Potential.			Nonsense_Mutation	SNP		37	c.931G>T		.	.	.	.	.	.	.	.	.	.	C	14.80	2.644062	0.47258	.	.	ENSG00000142609	ENST00000270720	.	.	.	3.23	-1.75	0.08031	.	0.933036	0.08888	N	0.879077	.	.	.	.	.	.	0.18873	N	0.999981	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-5.2619	12.7707	0.57419	0.0:0.305:0.695:0.0	.	.	.	.	X	311	.	ENSP00000270720:E311X	E	-	1	0	C1orf222	1892073	0.000000	0.05858	0.243000	0.24186	0.007000	0.05969	-0.385000	0.07379	-0.091000	0.12440	-0.502000	0.04539	GAG	0	0.627									11	40	1	0	2.27111e-07	0.001368	2.85232e-07	11	40				
PRDM16	63976	broad.mit.edu	37	1	3328730	3328730	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:3328730G>T	ENST00000270722.5	+	9	2018	c.1969G>T	c.(1969-1971)Ggg>Tgg	p.G657W	PRDM16_ENST00000442529.2_Missense_Mutation_p.G657W|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000511072.1_Missense_Mutation_p.G658W|PRDM16_ENST00000378398.3_Missense_Mutation_p.G658W|PRDM16_ENST00000514189.1_Missense_Mutation_p.G658W|PRDM16_ENST00000441472.2_Missense_Mutation_p.G657W|PRDM16_ENST00000378391.2_Missense_Mutation_p.G657W			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	657					brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GGCGCCCCCGGGGGCCCCGAA	0.692			T	EVI1	"""MDS, AML"""																																		uc001akf.2		NA		Dom	yes		1	1p36.23-p33	63976	T	PR domain containing 16			L	EVI1		MDS|AML		0				lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7						c.(1969-1971)GGG>TGG		PR domain containing 16 isoform 1							27.0	36.0	33.0					1																	3328730		1890	4090	5980	SO:0001583	missense	63976				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr1:3328730G>T	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.1969G>T	1.37:g.3328730G>T	ENSP00000270722:p.Gly657Trp					PRDM16_uc001akc.2_Missense_Mutation_p.G657W|PRDM16_uc001akd.2_Missense_Mutation_p.G657W|PRDM16_uc001ake.2_Missense_Mutation_p.G657W|PRDM16_uc009vlh.2_Missense_Mutation_p.G358W	p.G657W	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)	9	2049	+	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)	657					A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP	ENST00000270722.5	37	c.1969G>T	CCDS41236.2	.	.	.	.	.	.	.	.	.	.	G	9.330	1.060323	0.19987	.	.	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722;ENST00000512462;ENST00000408992;ENST00000509860	T;T;T;T;T;T;T;T;T	0.05786	3.4;3.43;3.44;3.44;3.42;3.43;3.44;3.4;3.39	5.09	4.11	0.48088	.	0.322337	0.22349	U	0.061229	T	0.13756	0.0333	L	0.51422	1.61	0.09310	N	1	D;D;D;D	0.71674	0.988;0.998;0.993;0.997	P;D;P;P	0.66847	0.715;0.947;0.886;0.887	T	0.11518	-1.0584	10	0.87932	D	0	.	3.732	0.08496	0.209:0.228:0.563:0.0	.	657;657;657;657	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	W	658;658;657;657;657;658;657;473;473;466	ENSP00000426975:G658W;ENSP00000367651:G658W;ENSP00000407968:G657W;ENSP00000405253:G657W;ENSP00000367643:G657W;ENSP00000421400:G658W;ENSP00000270722:G657W;ENSP00000422504:G473W;ENSP00000425796:G466W	ENSP00000270722:G657W	G	+	1	0	PRDM16	3318590	0.998000	0.40836	0.077000	0.20336	0.019000	0.09904	3.299000	0.51826	2.375000	0.81037	0.603000	0.83216	GGG		0.692	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		12	20	1	0	5.50884e-06	0.001368	6.54807e-06	12	20				
DFFB	1677	broad.mit.edu	37	1	3775365	3775365	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:3775365C>T	ENST00000378209.3	+	2	521	c.198C>T	c.(196-198)aaC>aaT	p.N66N	CEP104_ENST00000378230.3_5'Flank|CEP104_ENST00000378223.3_5'Flank|DFFB_ENST00000341385.3_Silent_p.N66N|DFFB_ENST00000338895.3_Silent_p.N66N|DFFB_ENST00000378212.2_Silent_p.N66N	NM_004402.2	NP_004393.1	O76075	DFFB_HUMAN	DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase)	66	CIDE-N. {ECO:0000255|PROSITE- ProRule:PRU00447}.				apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.N66N(1)		endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211)		Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		TTCCCGACAACGCCGAGCTGG	0.652																																							uc001alc.2		NA																	1	Substitution - coding silent(1)		endometrium(1)		0						c.(196-198)AAC>AAT		DNA fragmentation factor, 40 kD, beta							63.0	58.0	60.0					1																	3775365		2203	4300	6503	SO:0001819	synonymous_variant	1677				apoptotic chromosome condensation|DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction	cytosol|nucleoplasm	deoxyribonuclease activity|enzyme binding	g.chr1:3775365C>T		CCDS52.1, CCDS72693.1	1p36.3	2014-03-06	2002-08-29		ENSG00000169598	ENSG00000169598			2773	protein-coding gene	gene with protein product		601883				9108473, 9560346	Standard	NM_004402		Approved	CAD, CPAN, DFF-40, DFF40	uc001alc.3	O76075	OTTHUMG00000003525	ENST00000378209.3:c.198C>T	1.37:g.3775365C>T						DFFB_uc001ale.2_RNA|DFFB_uc009vlp.2_RNA|DFFB_uc001alb.2_RNA|DFFB_uc010nzn.1_Silent_p.N66N|DFFB_uc009vlq.2_RNA|DFFB_uc009vlr.2_Translation_Start_Site|DFFB_uc001ald.2_Translation_Start_Site|KIAA0562_uc001aky.2_5'Flank|KIAA0562_uc010nzm.1_5'Flank|KIAA0562_uc001akz.2_5'Flank|DFFB_uc009vln.1_Silent_p.N66N|DFFB_uc001ala.1_Silent_p.N66N|DFFB_uc009vlo.1_Silent_p.N66N	p.N66N	NM_004402	NP_004393	O76075	DFFB_HUMAN		Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)	2	521	+	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211)	66			CIDE-N.		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Silent	SNP	ENST00000378209.3	37	c.198C>T	CCDS52.1																																																																																				0.652	DFFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009821.2	NM_001282669		4	41	0	0	0	0.000602	0	4	41				
ACOT7	11332	broad.mit.edu	37	1	6341241	6341241	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:6341241C>G	ENST00000377855.2	-	8	1111	c.965G>C	c.(964-966)cGc>cCc	p.R322P	ACOT7_ENST00000377842.3_Missense_Mutation_p.R271P|ACOT7_ENST00000361521.4_Missense_Mutation_p.R312P|ACOT7_ENST00000377845.3_Missense_Mutation_p.R292P|ACOT7_ENST00000545482.1_Missense_Mutation_p.R207P|ACOT7_ENST00000608083.1_Missense_Mutation_p.R280P	NM_181864.2	NP_863654.1	O00154	BACH_HUMAN	acyl-CoA thioesterase 7	322					coenzyme A biosynthetic process (GO:0015937)|fatty acid catabolic process (GO:0009062)|long-chain fatty-acyl-CoA catabolic process (GO:0036116)|medium-chain fatty acid biosynthetic process (GO:0051792)|medium-chain fatty-acyl-CoA catabolic process (GO:0036114)|palmitic acid biosynthetic process (GO:1900535)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)	carboxylic ester hydrolase activity (GO:0052689)|fatty-acyl-CoA binding (GO:0000062)|long-chain fatty acyl-CoA binding (GO:0036042)|palmitoyl-CoA hydrolase activity (GO:0016290)|protein homodimerization activity (GO:0042803)			kidney(1)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	16	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)		GGCCCGGTAGCGCTTCTGAGA	0.607											OREG0013034	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(74;673 1226 4974 11850 13190)	GBM(74;673 1226 4974 11850 13190)	uc001ams.2		NA																	0					0						c.(964-966)CGC>CCC		acyl-CoA thioesterase 7 isoform hBACHb							74.0	65.0	68.0					1																	6341241		2203	4300	6503	SO:0001583	missense	11332					mitochondrion|nucleus	carboxylesterase activity|fatty-acyl-CoA binding|palmitoyl-CoA hydrolase activity	g.chr1:6341241C>G	AB074417	CCDS65.1, CCDS66.1, CCDS67.1, CCDS30573.1	1p36	2008-08-14			ENSG00000097021	ENSG00000097021		"""Acyl CoA thioesterases"""	24157	protein-coding gene	gene with protein product	"""brain acyl CoA hydrolase"""	602587				10578051, 16103133, 16940157	Standard	XM_005263427		Approved	BACH, ACH1, ACT, CTE-II, LACH1, MGC1126, hBACH	uc001amt.3	O00154	OTTHUMG00000001295	ENST00000377855.2:c.965G>C	1.37:g.6341241C>G	ENSP00000367086:p.Arg322Pro		OREG0013034	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	633	ACOT7_uc010nzq.1_Missense_Mutation_p.R207P|ACOT7_uc001amt.2_Missense_Mutation_p.R312P|ACOT7_uc001amu.2_RNA|ACOT7_uc001amv.2_RNA|ACOT7_uc001amq.2_Missense_Mutation_p.R271P|ACOT7_uc001amr.2_Missense_Mutation_p.R292P	p.R322P	NM_181864	NP_863654	O00154	BACH_HUMAN		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)	8	1122	-	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)	322					A8K0K7|A8K232|A8K6B8|A8K837|B3KQ12|O43703|Q53Y78|Q5JYL2|Q5JYL3|Q5JYL4|Q5JYL5|Q5JYL6|Q5TGR4|Q9UJM9|Q9Y539|Q9Y540	Missense_Mutation	SNP	ENST00000377855.2	37	c.965G>C	CCDS65.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.138105	0.56936	.	.	ENSG00000097021	ENST00000377855;ENST00000377845;ENST00000377842;ENST00000361521;ENST00000545482	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	4.56	4.56	0.56223	.	0.265609	0.32416	N	0.006121	T	0.56411	0.1983	M	0.69523	2.12	0.80722	D	1	B;D;P;B	0.57257	0.378;0.979;0.852;0.318	B;P;B;B	0.54312	0.069;0.748;0.361;0.146	T	0.60141	-0.7321	10	0.44086	T	0.13	.	16.3206	0.82950	0.0:1.0:0.0:0.0	.	312;322;292;271	B3KQ12;O00154;O00154-5;O00154-6	.;BACH_HUMAN;.;.	P	322;292;271;312;207	ENSP00000367086:R322P;ENSP00000367076:R292P;ENSP00000367073:R271P;ENSP00000354615:R312P;ENSP00000439218:R207P	ENSP00000354615:R312P	R	-	2	0	ACOT7	6263828	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	4.500000	0.60387	2.076000	0.62316	0.462000	0.41574	CGC		0.607	ACOT7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003773.1	NM_007274		11	35	0	0	0	0.000978	0	11	35				
TAS1R1	80835	broad.mit.edu	37	1	6631250	6631250	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:6631250T>A	ENST00000333172.6	+	2	666	c.473T>A	c.(472-474)cTg>cAg	p.L158Q	TAS1R1_ENST00000328191.4_Missense_Mutation_p.L158Q|TAS1R1_ENST00000351136.3_Missense_Mutation_p.L158Q	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	158					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		ACAGCCGCCCTGCTGAGCCCT	0.607																																							uc001ant.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(472-474)CTG>CAG		sweet taste receptor T1r isoform b							70.0	68.0	68.0					1																	6631250		2203	4300	6503	SO:0001583	missense	80835				sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:6631250T>A		CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14448	protein-coding gene	gene with protein product		606225	"""G protein-coupled receptor 70"""	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.473T>A	1.37:g.6631250T>A	ENSP00000331867:p.Leu158Gln					TAS1R1_uc001anu.2_Missense_Mutation_p.L158Q|TAS1R1_uc001anv.2_Missense_Mutation_p.L158Q|TAS1R1_uc001anw.2_Missense_Mutation_p.L158Q	p.L158Q	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)	2	473	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	158			Extracellular (Potential).		B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Missense_Mutation	SNP	ENST00000333172.6	37	c.473T>A	CCDS81.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.56|15.56	2.870775|2.870775	0.51695|0.51695	.|.	.|.	ENSG00000173662|ENSG00000173662	ENST00000411823;ENST00000415267|ENST00000333172;ENST00000328191;ENST00000437392;ENST00000351136	.|D;D;D	.|0.86297	.|-2.1;-2.1;-2.1	5.01|5.01	5.01|5.01	0.66863|0.66863	.|Extracellular ligand-binding receptor (1);	.|0.563377	.|0.16666	.|N	.|0.204585	D|D	0.93808|0.93808	0.8020|0.8020	M|M	0.89414|0.89414	3.03|3.03	0.36865|0.36865	D|D	0.888628|0.888628	.|D;P;P;D	.|0.76494	.|0.999;0.819;0.911;0.997	.|D;P;P;D	.|0.71414	.|0.973;0.539;0.576;0.965	D|D	0.95552|0.95552	0.8621|0.8621	5|10	.|0.72032	.|D	.|0.01	.|.	12.121|12.121	0.53891|0.53891	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|158;158;158;158	.|Q7RTX1-3;Q7RTX1-4;Q7RTX1-2;Q7RTX1	.|.;.;.;TS1R1_HUMAN	S|Q	84|158;158;80;158	.|ENSP00000331867:L158Q;ENSP00000327705:L158Q;ENSP00000312558:L158Q	.|ENSP00000327705:L158Q	C|L	+|+	1|2	0|0	TAS1R1|TAS1R1	6553837|6553837	0.498000|0.498000	0.26075|0.26075	0.853000|0.853000	0.33588|0.33588	0.312000|0.312000	0.27988|0.27988	4.347000|4.347000	0.59373|0.59373	1.850000|1.850000	0.53721|0.53721	0.528000|0.528000	0.53228|0.53228	TGC|CTG		0.607	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004211.1			17	44	0	0	0	0.008871	0	17	44				
DNAJC11	55735	broad.mit.edu	37	1	6704656	6704656	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:6704656G>A	ENST00000377577.5	-	10	1182	c.1059C>T	c.(1057-1059)gtC>gtT	p.V353V	DNAJC11_ENST00000294401.7_Silent_p.V353V|DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000542246.1_Silent_p.V315V|DNAJC11_ENST00000377573.5_Silent_p.V263V|DNAJC11_ENST00000465508.1_5'UTR	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	353						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		CTCCAACGCTGACAGCTGCAC	0.537																																							uc001aof.2		NA																	0				ovary(1)|skin(1)	2						c.(1057-1059)GTC>GTT		DnaJ (Hsp40) homolog, subfamily C, member 11							94.0	87.0	89.0					1																	6704656		2203	4300	6503	SO:0001819	synonymous_variant	55735				protein folding		heat shock protein binding|unfolded protein binding	g.chr1:6704656G>A	AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"""Heat shock proteins / DNAJ (HSP40)"""	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.1059C>T	1.37:g.6704656G>A						DNAJC11_uc010nzt.1_Intron|DNAJC11_uc001aog.2_Silent_p.V353V|DNAJC11_uc010nzu.1_Silent_p.V263V	p.V353V	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)	10	1165	-	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	353					Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Silent	SNP	ENST00000377577.5	37	c.1059C>T	CCDS87.1																																																																																				0.537	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004216.3	NM_018198		9	25	0	0	0	0.004482	0	9	25				
EXOSC10	5394	broad.mit.edu	37	1	11141175	11141175	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:11141175C>G	ENST00000376936.4	-	11	1450	c.1401G>C	c.(1399-1401)caG>caC	p.Q467H	EXOSC10_ENST00000485606.1_5'UTR|EXOSC10_ENST00000304457.7_Missense_Mutation_p.Q467H|EXOSC10_ENST00000544779.1_Missense_Mutation_p.Q467H	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	467					CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		GCCACACCACCTGCAGCTGCA	0.587																																					Colon(179;105 1987 14326 27364 29542)	Colon(179;105 1987 14326 27364 29542)	uc001asa.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(1399-1401)CAG>CAC		exosome component 10 isoform 1							52.0	48.0	49.0					1																	11141175		2203	4300	6503	SO:0001583	missense	5394				CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding	g.chr1:11141175C>G	BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 2 (100kD)"""	605960	"""polymyositis/scleroderma autoantigen 2, 100kDa"""	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.1401G>C	1.37:g.11141175C>G	ENSP00000366135:p.Gln467His					EXOSC10_uc001asb.2_Missense_Mutation_p.Q467H|EXOSC10_uc009vmy.1_Missense_Mutation_p.Q467H	p.Q467H	NM_001001998	NP_001001998	Q01780	EXOSX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)	11	1451	-	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	467					B1AKQ0|B1AKQ1|Q15158	Missense_Mutation	SNP	ENST00000376936.4	37	c.1401G>C	CCDS30584.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.636058	0.47049	.	.	ENSG00000171824	ENST00000376936;ENST00000304457;ENST00000544779	.	.	.	5.74	3.88	0.44766	Ribonuclease H-like (1);	0.146747	0.64402	D	0.000006	T	0.46698	0.1406	L	0.43923	1.385	0.53688	D	0.99997	B;B	0.27192	0.171;0.029	B;B	0.24701	0.055;0.017	T	0.38023	-0.9680	9	0.40728	T	0.16	-23.7264	9.3306	0.38018	0.0:0.7816:0.0:0.2184	.	467;467	Q01780-2;Q01780	.;EXOSX_HUMAN	H	467	.	ENSP00000307307:Q467H	Q	-	3	2	EXOSC10	11063762	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	2.135000	0.42112	0.894000	0.36317	0.563000	0.77884	CAG		0.587	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006078.1	NM_001001998		3	27	0	0	0	0.009096	0	3	27				
MAD2L2	10459	broad.mit.edu	37	1	11736107	11736107	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:11736107G>A	ENST00000235310.3	-	8	1351	c.423C>T	c.(421-423)ccC>ccT	p.P141P	MAD2L2_ENST00000376669.5_Silent_p.P154P|MAD2L2_ENST00000376667.3_Silent_p.P141P|MAD2L2_ENST00000376672.1_Silent_p.P154P|MAD2L2_ENST00000376692.4_Silent_p.P141P			Q9UI95	MD2L2_HUMAN	MAD2 mitotic arrest deficient-like 2 (yeast)	141	HORMA. {ECO:0000255|PROSITE- ProRule:PRU00109}.|Mediates interaction with REV1 and REV3L and homodimerization.				actin filament organization (GO:0007015)|DNA damage response, signal transduction resulting in transcription (GO:0042772)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|zeta DNA polymerase complex (GO:0016035)	JUN kinase binding (GO:0008432)|RNA polymerase II activating transcription factor binding (GO:0001102)			kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACACACCTGGGGGGTTGTGGT	0.577								DNA polymerases (catalytic subunits)																															uc001asp.2		NA																	0					0						c.(421-423)CCC>CCT	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	MAD2 homolog							66.0	66.0	66.0					1																	11736107		2203	4300	6503	SO:0001819	synonymous_variant	10459				cell division|DNA damage response, signal transduction resulting in transcription|double-strand break repair|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription, DNA-dependent|regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleoplasm|spindle|zeta DNA polymerase complex	JUN kinase binding	g.chr1:11736107G>A	AF139365	CCDS134.1	1p36	2013-01-17	2001-11-28		ENSG00000116670	ENSG00000116670		"""DNA polymerases"""	6764	protein-coding gene	gene with protein product	"""mitotic arrest deficient homolog-like 2"", ""polymerase (DNA-directed), zeta 2, accessory subunit"""	604094	"""MAD2 (mitotic arrest deficient, yeast, homolog)-like 2"""			10366450	Standard	NM_006341		Approved	MAD2B, REV7, POLZ2	uc009vnc.3	Q9UI95	OTTHUMG00000002231	ENST00000235310.3:c.423C>T	1.37:g.11736107G>A						MAD2L2_uc009vnc.2_Silent_p.P141P|MAD2L2_uc001asq.3_Silent_p.P141P	p.P141P	NM_006341	NP_006332	Q9UI95	MD2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	6	611	-	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	141			Mediates interaction with REV1 and REV3L and homodimerization.|HORMA.		B3KNE3|Q5TGW7|Q9UNA7|Q9Y6I6	Silent	SNP	ENST00000235310.3	37	c.423C>T	CCDS134.1																																																																																				0.577	MAD2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006344.2	NM_006341		16	34	0	0	0	0.010504	0	16	34				
SPEN	23013	broad.mit.edu	37	1	16255538	16255538	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:16255538G>T	ENST00000375759.3	+	11	3007	c.2803G>T	c.(2803-2805)Gtt>Ttt	p.V935F		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	935					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		ACTGGAATCAGTTAGAATGAA	0.468																																							uc001axk.1		NA																	0				ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(2803-2805)GTT>TTT		spen homolog, transcriptional regulator							116.0	128.0	124.0					1																	16255538		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16255538G>T		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.2803G>T	1.37:g.16255538G>T	ENSP00000364912:p.Val935Phe					SPEN_uc010obp.1_Missense_Mutation_p.V894F	p.V935F	NM_015001	NP_055816	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	3007	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	935					Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.2803G>T	CCDS164.1	.	.	.	.	.	.	.	.	.	.	G	2.731	-0.264466	0.05754	.	.	ENSG00000065526	ENST00000375759	T	0.57436	0.4	5.2	4.29	0.51040	.	.	.	.	.	T	0.42630	0.1211	L	0.47716	1.5	0.09310	N	0.999999	P	0.39216	0.664	B	0.31191	0.125	T	0.35724	-0.9777	9	0.56958	D	0.05	-9.5686	11.156	0.48489	0.1478:0.0:0.8522:0.0	.	935	Q96T58	MINT_HUMAN	F	935	ENSP00000364912:V935F	ENSP00000364912:V935F	V	+	1	0	SPEN	16128125	0.829000	0.29322	0.006000	0.13384	0.671000	0.39405	2.753000	0.47524	1.421000	0.47157	0.655000	0.94253	GTT		0.468	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		20	103	1	0	1.50039e-11	0.001882	2.15148e-11	20	103				
FBXO42	54455	broad.mit.edu	37	1	16578015	16578015	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:16578015C>T	ENST00000375592.3	-	10	1520	c.1304G>A	c.(1303-1305)gGc>gAc	p.G435D		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	435										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		GATAGGAGAGCCGTCTCCTCT	0.577																																							uc001ayg.2		NA																	0				upper_aerodigestive_tract(1)|skin(1)	2						c.(1303-1305)GGC>GAC		F-box protein 42							32.0	33.0	33.0					1																	16578015		2203	4300	6503	SO:0001583	missense	54455							g.chr1:16578015C>T	BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"""F-boxes /  ""other"""""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.1304G>A	1.37:g.16578015C>T	ENSP00000364742:p.Gly435Asp					FBXO42_uc001aye.3_Missense_Mutation_p.G153D|FBXO42_uc001ayf.2_Missense_Mutation_p.G342D	p.G435D	NM_018994	NP_061867	Q6P3S6	FBX42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)	10	1520	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	435					B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Missense_Mutation	SNP	ENST00000375592.3	37	c.1304G>A	CCDS30613.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.914347	0.52546	.	.	ENSG00000037637	ENST00000375592;ENST00000456164;ENST00000444116	T;T;T	0.41400	3.87;1.0;1.0	5.81	5.81	0.92471	.	0.146358	0.48286	D	0.000181	T	0.32194	0.0821	N	0.22421	0.69	0.53688	D	0.999974	B	0.20261	0.043	B	0.24394	0.053	T	0.11591	-1.0581	10	0.11485	T	0.65	-17.9469	19.0639	0.93103	0.0:1.0:0.0:0.0	.	435	Q6P3S6	FBX42_HUMAN	D	435;153;153	ENSP00000364742:G435D;ENSP00000415663:G153D;ENSP00000412416:G153D	ENSP00000364742:G435D	G	-	2	0	FBXO42	16450602	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	4.711000	0.61881	2.763000	0.94921	0.650000	0.86243	GGC		0.577	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006285.1			4	9	0	0	0	0.000602	0	4	9				
ESPNP	284729	broad.mit.edu	37	1	17017716	17017716	+	RNA	SNP	T	T	C	rs544321350	byFrequency	TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:17017716T>C	ENST00000492551.1	-	0	2011					NR_026567.1				espin pseudogene																		GGCTCACCTCTCTTCTTCCAG	0.622													t|||	2	0.000399361	0.0	0.0	5008	,	,		40109	0.0		0.0	False		,,,				2504	0.002						uc001azn.1		NA																	0					0						c.(1897-1899)GAG>GGG		RecName: Full=Espin; AltName: Full=Ectoplasmic specialization protein; AltName: Full=Autosomal recessive deafness type 36 protein;																																						284729							g.chr1:17017716T>C	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17017716T>C							p.E633G	NR_026567						11	2012	-									Missense_Mutation	SNP	ENST00000492551.1	37	c.1898A>G																																																																																					0.622	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			5	30	0	0	0	0.000602	0	5	30				
ACTL8	81569	broad.mit.edu	37	1	18149614	18149614	+	Silent	SNP	G	G	T	rs371845115		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:18149614G>T	ENST00000375406.1	+	2	327	c.111G>T	c.(109-111)ccG>ccT	p.P37P		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	37					epithelial cell differentiation (GO:0030855)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		ACTACCTACCGTGCAAGGAGA	0.587																																							uc001bat.2		NA																	0				ovary(4)	4						c.(109-111)CCG>CCT		actin-like 8							105.0	88.0	93.0					1																	18149614		2203	4300	6503	SO:0001819	synonymous_variant	81569					cytoplasm|cytoskeleton		g.chr1:18149614G>T	AK057339	CCDS183.1	1p36.2-p35	2009-03-25			ENSG00000117148	ENSG00000117148			24018	protein-coding gene	gene with protein product	"""cancer/testis antigen 57"""						Standard	NM_030812		Approved	CT57	uc001bat.3	Q9H568	OTTHUMG00000002512	ENST00000375406.1:c.111G>T	1.37:g.18149614G>T							p.P37P	NM_030812	NP_110439	Q9H568	ACTL8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	2	327	+		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	37					Q13104|Q96M75	Silent	SNP	ENST00000375406.1	37	c.111G>T	CCDS183.1																																																																																				0.587	ACTL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007143.1	NM_030812		17	45	1	0	1.56452e-12	0.007413	2.31028e-12	17	45				
EIF4G3	8672	broad.mit.edu	37	1	21220017	21220017	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:21220017C>A	ENST00000264211.8	-	12	2272	c.2078G>T	c.(2077-2079)gGc>gTc	p.G693V	EIF4G3_ENST00000537738.1_Missense_Mutation_p.G146V|EIF4G3_ENST00000544689.1_Missense_Mutation_p.G236V|EIF4G3_ENST00000536266.1_Missense_Mutation_p.G297V|EIF4G3_ENST00000374933.3_5'UTR|EIF4G3_ENST00000602326.1_Missense_Mutation_p.G699V|EIF4G3_ENST00000374937.3_Missense_Mutation_p.G699V|EIF4G3_ENST00000374935.3_Missense_Mutation_p.G413V|EIF4G3_ENST00000400422.1_Missense_Mutation_p.G693V	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	693					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TACAGGTACGCCTCTTCCACC	0.473																																							uc001bec.2		NA																	0				skin(1)	1						c.(2077-2079)GGC>GTC		eukaryotic translation initiation factor 4							134.0	124.0	128.0					1																	21220017		2203	4300	6503	SO:0001583	missense	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21220017C>A	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.2078G>T	1.37:g.21220017C>A	ENSP00000264211:p.Gly693Val					EIF4G3_uc010odi.1_Missense_Mutation_p.G297V|EIF4G3_uc010odj.1_Missense_Mutation_p.G692V|EIF4G3_uc009vpz.2_Missense_Mutation_p.G413V|EIF4G3_uc001bed.2_Missense_Mutation_p.G693V|EIF4G3_uc001bef.2_Missense_Mutation_p.G692V|EIF4G3_uc001bee.2_Missense_Mutation_p.G699V	p.G693V	NM_003760	NP_003751	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	13	2334	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	693					B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	37	c.2078G>T	CCDS214.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.188475	0.78789	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000537738;ENST00000374937;ENST00000536266;ENST00000374933;ENST00000544689	T;T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55;0.55	5.78	4.87	0.63330	.	0.287741	0.30302	N	0.009935	T	0.61739	0.2371	L	0.55213	1.73	0.80722	D	1	D;D;D;P;D	0.71674	0.998;0.996;0.996;0.926;0.991	P;D;D;B;P	0.69824	0.892;0.931;0.966;0.36;0.677	T	0.59658	-0.7413	10	0.29301	T	0.29	-13.5413	7.531	0.27683	0.0:0.7045:0.1394:0.1561	.	888;413;297;699;693	Q59GJ0;Q504Z1;F5H564;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	V	693;889;693;413;146;699;297;236;236	ENSP00000264211:G693V;ENSP00000383274:G693V;ENSP00000364071:G413V;ENSP00000442010:G146V;ENSP00000364073:G699V;ENSP00000444693:G297V;ENSP00000444401:G236V	ENSP00000264211:G693V	G	-	2	0	EIF4G3	21092604	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	4.451000	0.60047	1.457000	0.47850	0.655000	0.94253	GGC		0.473	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		11	37	1	0	0.000151284	0.001855	0.000170553	11	37				
HSPG2	3339	broad.mit.edu	37	1	22172956	22172956	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:22172956G>A	ENST00000374695.3	-	63	8380	c.8301C>T	c.(8299-8301)ctC>ctT	p.L2767L	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2767	Ig-like C2-type 13.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GGTGACTGGGGAGGCTGCCCC	0.657																																							uc001bfj.2		NA																	0				ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9						c.(8299-8301)CTC>CTT		heparan sulfate proteoglycan 2 precursor	Becaplermin(DB00102)|Palifermin(DB00039)						59.0	61.0	60.0					1																	22172956		2203	4300	6503	SO:0001819	synonymous_variant	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22172956G>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.8301C>T	1.37:g.22172956G>A						HSPG2_uc009vqd.2_Silent_p.L2768L	p.L2767L	NM_005529	NP_005520	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	63	8341	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	2767			Ig-like C2-type 13.		Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	37	c.8301C>T	CCDS30625.1																																																																																				0.657	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		15	71	0	0	0	0.00499	0	15	71				
ZBTB40	9923	broad.mit.edu	37	1	22850841	22850841	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:22850841C>T	ENST00000375647.4	+	17	3636	c.3429C>T	c.(3427-3429)ctC>ctT	p.L1143L	ZBTB40_ENST00000404138.1_Silent_p.L1143L|ZBTB40_ENST00000374651.4_Silent_p.L1031L	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	1143					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		GTGGGGAACTCTTCACCTCCC	0.577																																							uc001bft.2		NA																	0				ovary(1)	1						c.(3427-3429)CTC>CTT		zinc finger and BTB domain containing 40							80.0	78.0	79.0					1																	22850841		2203	4300	6503	SO:0001819	synonymous_variant	9923				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:22850841C>T	AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.3429C>T	1.37:g.22850841C>T						ZBTB40_uc001bfu.2_Silent_p.L1143L|ZBTB40_uc009vqi.1_Silent_p.L1031L	p.L1143L	NM_001083621	NP_001077090	Q9NUA8	ZBT40_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)	18	3940	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	1143			C2H2-type 12.		O75066|Q5TFU5|Q8N1R1	Silent	SNP	ENST00000375647.4	37	c.3429C>T	CCDS224.1																																																																																				0.577	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	NM_014870		11	31	0	0	0	0.001368	0	11	31				
EPHA8	2046	broad.mit.edu	37	1	22927454	22927454	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:22927454C>A	ENST00000166244.3	+	15	2674	c.2602C>A	c.(2602-2604)Cac>Aac	p.H868N		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	868	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCACGCCCTGCACCAGCTCAT	0.677																																							uc001bfx.1		NA																	0				central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13						c.(2602-2604)CAC>AAC		ephrin receptor EphA8 isoform 1 precursor							56.0	55.0	55.0					1																	22927454		2203	4299	6502	SO:0001583	missense	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22927454C>A	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.2602C>A	1.37:g.22927454C>A	ENSP00000166244:p.His868Asn						p.H868N	NM_020526	NP_065387	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	15	2727	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	868			Cytoplasmic (Potential).|Protein kinase.		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	37	c.2602C>A	CCDS225.1	.	.	.	.	.	.	.	.	.	.	c	23.5	4.418313	0.83449	.	.	ENSG00000070886	ENST00000166244	D	0.82255	-1.59	4.92	4.92	0.64577	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.86053	0.5841	N	0.25485	0.75	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.87992	0.2750	10	0.87932	D	0	.	16.851	0.85994	0.0:1.0:0.0:0.0	.	868	P29322	EPHA8_HUMAN	N	868	ENSP00000166244:H868N	ENSP00000166244:H868N	H	+	1	0	EPHA8	22800041	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.741000	0.62095	2.562000	0.86427	0.556000	0.70494	CAC		0.677	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		24	52	1	0	1.50538e-07	0.00632	1.90511e-07	24	52				
EPHA8	2046	broad.mit.edu	37	1	22927967	22927967	+	Splice_Site	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:22927967G>T	ENST00000166244.3	+	16	2975		c.e16+1			NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TGAACGCCCAGTGAGTGATGG	0.692																																							uc001bfx.1		NA																	0				central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13						c.e16+1		ephrin receptor EphA8 isoform 1 precursor							23.0	26.0	25.0					1																	22927967		2202	4292	6494	SO:0001630	splice_region_variant	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22927967G>T	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.2903+1G>T	1.37:g.22927967G>T							p.Q968_splice	NM_020526	NP_065387	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	16	3028	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)						Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Splice_Site	SNP	ENST00000166244.3	37	c.2903_splice	CCDS225.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.797263	0.70567	.	.	ENSG00000070886	ENST00000166244	.	.	.	5.23	4.29	0.51040	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4468	0.61146	0.0:0.1585:0.8415:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EPHA8	22800554	1.000000	0.71417	0.995000	0.50966	0.765000	0.43378	9.427000	0.97472	1.399000	0.46721	0.491000	0.48974	.		0.692	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526	Intron	11	21	1	0	9.70103e-10	0.008291	1.33322e-09	11	21				
C1QB	713	broad.mit.edu	37	1	22987523	22987523	+	Missense_Mutation	SNP	C	C	T	rs149072794		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:22987523C>T	ENST00000314933.6	+	3	538	c.406C>T	c.(406-408)Cgg>Tgg	p.R136W	C1QB_ENST00000509305.1_Missense_Mutation_p.R134W	NM_000491.3	NP_000482.3	P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	136	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|inner ear development (GO:0048839)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|complement component C1 complex (GO:0005602)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCCCCTGCGCCGGGACCAGAC	0.587													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17653	0.0		0.0	False		,,,				2504	0.0						uc001bgd.2		NA																	0				breast(1)	1						c.(406-408)CGG>TGG		complement component 1, q subcomponent, B chain	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	C	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	130.0	120.0	123.0		406	-1.2	0.0	1	dbSNP_134	123	3,8597	3.0+/-9.4	0,3,4297	yes	missense	C1QB	NM_000491.3	101	0,5,6498	TT,TC,CC		0.0349,0.0454,0.0384	probably-damaging	136/254	22987523	5,13001	2203	4300	6503	SO:0001583	missense	713				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex		g.chr1:22987523C>T	X03084	CCDS228.1	1p36.3-p34.1	2014-09-17	2006-02-09		ENSG00000173369	ENSG00000173369		"""Complement system"""	1242	protein-coding gene	gene with protein product		120570	"""complement component 1, q subcomponent, beta polypeptide"""			1537612	Standard	XM_005245982		Approved		uc001bgd.3	P02746	OTTHUMG00000002896	ENST00000314933.6:c.406C>T	1.37:g.22987523C>T	ENSP00000313967:p.Arg136Trp						p.R136W	NM_000491	NP_000482	P02746	C1QB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	3	538	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	136			C1q.		Q5T959|Q96H17	Missense_Mutation	SNP	ENST00000314933.6	37	c.406C>T	CCDS228.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.604936	0.46423	4.54E-4	3.49E-4	ENSG00000173369	ENST00000510260;ENST00000509305;ENST00000432749;ENST00000314933	T;T;T;T	0.77098	-1.07;-0.95;-0.95;-0.95	5.05	-1.19	0.09585	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.944910	0.08861	N	0.882957	T	0.78848	0.4348	L	0.60455	1.87	0.09310	N	1	D	0.69078	0.997	P	0.51385	0.668	T	0.70051	-0.4978	10	0.66056	D	0.02	.	10.7248	0.46061	0.4929:0.3955:0.1116:0.0	.	136	P02746	C1QB_HUMAN	W	134;134;134;136	ENSP00000426317:R134W;ENSP00000423689:R134W;ENSP00000404606:R134W;ENSP00000313967:R136W	ENSP00000313967:R136W	R	+	1	2	C1QB	22860110	0.000000	0.05858	0.000000	0.03702	0.420000	0.31355	1.068000	0.30629	-0.075000	0.12798	0.561000	0.74099	CGG		0.587	C1QB-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_000491		13	85	0	0	0	0.004007	0	13	85				
RPA2	6118	broad.mit.edu	37	1	28223634	28223634	+	Splice_Site	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:28223634T>A	ENST00000373912.3	-	6	708		c.e6-2		RPA2_ENST00000373909.3_Splice_Site|RPA2_ENST00000313433.7_Splice_Site	NM_002946.3	NP_002937.1	P15927	RFA2_HUMAN	replication protein A2, 32kDa						base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of DNA damage checkpoint (GO:2000001)|regulation of double-strand break repair via homologous recombination (GO:0010569)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|enzyme binding (GO:0019899)|protein phosphatase binding (GO:0019903)|single-stranded DNA binding (GO:0003697)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(3)|skin(1)	11		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649)		CTTTTTGTTCTATTAAAATGA	0.343								Direct reversal of damage;Nucleotide excision repair (NER)																															uc001bpe.1		NA																	0				skin(1)	1						c.e6-1	Direct_reversal_of_damage|NER	replication protein A2, 32kDa							81.0	77.0	79.0					1																	28223634		2203	4300	6503	SO:0001630	splice_region_variant	6118				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|regulation of double-strand break repair via homologous recombination|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor A complex|PML body	protein phosphatase binding|single-stranded DNA binding	g.chr1:28223634T>A	BC021257	CCDS314.1, CCDS72740.1	1p35	2008-02-05	2002-08-29		ENSG00000117748	ENSG00000117748			10290	protein-coding gene	gene with protein product		179836	"""replication protein A2 (32kD)"""			8454588	Standard	XM_005245965		Approved		uc001bpe.1	P15927	OTTHUMG00000003915	ENST00000373912.3:c.409-2A>T	1.37:g.28223634T>A						RPA2_uc001bpd.1_Splice_Site_p.N145_splice|RPA2_uc010ofp.1_Splice_Site_p.N41_splice	p.N137_splice	NM_002946	NP_002937	P15927	RFA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649)	6	691	-		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)						Q52II0|Q5TEI9|Q5TEJ5	Splice_Site	SNP	ENST00000373912.3	37	c.409_splice	CCDS314.1	.	.	.	.	.	.	.	.	.	.	T	15.20	2.761584	0.49468	.	.	ENSG00000117748	ENST00000373912;ENST00000373909;ENST00000313433;ENST00000444045	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3276	0.66530	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	RPA2	28096221	1.000000	0.71417	0.984000	0.44739	0.555000	0.35460	7.413000	0.80104	2.090000	0.63153	0.374000	0.22700	.		0.343	RPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011179.1	NM_002946	Intron	4	15	0	0	0	0.009096	0	4	15				
SMPDL3B	27293	broad.mit.edu	37	1	28275671	28275671	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:28275671C>T	ENST00000373894.3	+	3	562	c.371C>T	c.(370-372)cCa>cTa	p.P124L	RP11-460I13.2_ENST00000448015.1_RNA|SMPDL3B_ENST00000373888.4_Missense_Mutation_p.P124L|SMPDL3B_ENST00000549094.1_Missense_Mutation_p.P124L	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	124					sphingomyelin catabolic process (GO:0006685)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		GAGGTCTTTCCAGGTAAGACT	0.552																																							uc001bpg.2		NA																	0				ovary(3)	3						c.(370-372)CCA>CTA		acid sphingomyelinase-like phosphodiesterase 3B							106.0	92.0	96.0					1																	28275671		2203	4300	6503	SO:0001583	missense	27293				sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity	g.chr1:28275671C>T	Y08134	CCDS30655.1, CCDS30656.1	1p35.3	2008-02-05			ENSG00000130768	ENSG00000130768			21416	protein-coding gene	gene with protein product							Standard	NM_014474		Approved	ASML3B	uc001bpg.3	Q92485	OTTHUMG00000003910	ENST00000373894.3:c.371C>T	1.37:g.28275671C>T	ENSP00000363001:p.Pro124Leu					SMPDL3B_uc001bpf.2_Missense_Mutation_p.P124L|SMPDL3B_uc010ofq.1_5'UTR|SMPDL3B_uc010ofr.1_Missense_Mutation_p.P124L	p.P124L	NM_014474	NP_055289	Q92485	ASM3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)	3	562	+		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	124					B7ZB35|Q5T0Z0|Q96CB7	Missense_Mutation	SNP	ENST00000373894.3	37	c.371C>T	CCDS30655.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.066882	0.55539	.	.	ENSG00000130768	ENST00000373894;ENST00000373890;ENST00000411604;ENST00000373888;ENST00000549094;ENST00000412515	D;D;D;D	0.95137	-1.8;-1.8;-1.8;-3.62	5.69	4.78	0.61160	Metallophosphoesterase domain (1);	0.046413	0.85682	N	0.000000	D	0.97402	0.9150	M	0.82823	2.61	0.42091	D	0.991296	D;D;D	0.89917	0.998;0.998;1.0	D;D;D	0.97110	0.945;0.967;1.0	D	0.97350	0.9963	10	0.66056	D	0.02	-4.0583	17.8062	0.88601	0.0:0.9352:0.0:0.0648	.	124;124;124	F8VWW8;Q92485;Q92485-2	.;ASM3B_HUMAN;.	L	124;154;154;124;124;124	ENSP00000363001:P124L;ENSP00000388092:P154L;ENSP00000362995:P124L;ENSP00000449450:P124L	ENSP00000362995:P124L	P	+	2	0	SMPDL3B	28148258	1.000000	0.71417	1.000000	0.80357	0.255000	0.26057	5.829000	0.69316	0.766000	0.33244	-0.797000	0.03246	CCA		0.552	SMPDL3B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011170.1	NM_014474		12	21	0	0	0	0.000978	0	12	21				
DCDC2B	149069	broad.mit.edu	37	1	32680429	32680429	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:32680429C>A	ENST00000409358.1	+	7	746	c.746C>A	c.(745-747)cCc>cAc	p.P249H	TMEM234_ENST00000485689.1_5'Flank	NM_001099434.1	NP_001092904.1	A2VCK2	DCD2B_HUMAN	doublecortin domain containing 2B	249					intracellular signal transduction (GO:0035556)					breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GTAACCCAGCCCTCTCCAAAG	0.557																																							uc001bun.2		NA																	0					0						c.(745-747)CCC>CAC		doublecortin domain containing 2B							70.0	71.0	71.0					1																	32680429		1967	4141	6108	SO:0001583	missense	149069				intracellular signal transduction			g.chr1:32680429C>A	BC128073	CCDS44100.1	1p35.1	2008-05-13			ENSG00000222046	ENSG00000222046			32576	protein-coding gene	gene with protein product							Standard	NM_001099434		Approved		uc001bun.2	A2VCK2	OTTHUMG00000005741	ENST00000409358.1:c.746C>A	1.37:g.32680429C>A	ENSP00000386870:p.Pro249His					C1orf91_uc001buo.3_RNA|C1orf91_uc001bup.3_RNA	p.P249H	NM_001099434	NP_001092904	A2VCK2	DCD2B_HUMAN			7	746	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	249					B7ZBC6	Missense_Mutation	SNP	ENST00000409358.1	37	c.746C>A	CCDS44100.1	.	.	.	.	.	.	.	.	.	.	C	7.789	0.711118	0.15239	.	.	ENSG00000222046	ENST00000409358	T	0.35048	1.33	3.97	1.08	0.20341	.	.	.	.	.	T	0.29223	0.0727	N	0.17474	0.49	0.43381	D	0.995487	D	0.63046	0.992	P	0.54965	0.765	T	0.05801	-1.0863	9	0.36615	T	0.2	.	5.7794	0.18297	0.0:0.6582:0.0:0.3418	.	249	A2VCK2	DCD2B_HUMAN	H	249	ENSP00000386870:P249H	ENSP00000386870:P249H	P	+	2	0	DCDC2B	32453016	0.334000	0.24739	0.598000	0.28837	0.493000	0.33554	0.295000	0.19065	0.260000	0.21731	0.655000	0.94253	CCC		0.557	DCDC2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328293.1	XM_940631		9	39	1	0	0.000274275	0.004482	0.000304364	9	39				
CSMD2	114784	broad.mit.edu	37	1	34498244	34498244	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:34498244G>T	ENST00000373381.4	-	3	644	c.468C>A	c.(466-468)ctC>ctA	p.L156L		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	116	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGTCGCTGATGAGGCGCAGAG	0.547																																							uc001bxn.1		NA																	0				ovary(6)|skin(5)|pancreas(1)	12						c.(346-348)CTC>CTA		CUB and Sushi multiple domains 2							100.0	76.0	84.0					1																	34498244		2203	4300	6503	SO:0001819	synonymous_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34498244G>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.468C>A	1.37:g.34498244G>T						CSMD2_uc001bxm.1_Silent_p.L156L	p.L116L	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			3	377	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	116			CUB 1.|Extracellular (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373381.4	37	c.348C>A																																																																																					0.547	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		4	5	1	0	5.9392e-07	0.001168	7.35353e-07	4	5				
MTF1	4520	broad.mit.edu	37	1	38305733	38305733	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:38305733G>A	ENST00000373036.4	-	3	646	c.506C>T	c.(505-507)aCc>aTc	p.T169I		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	169					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cadmium ion (GO:0046686)|response to metal ion (GO:0010038)|response to oxidative stress (GO:0006979)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ACAGACAAAGGTGTACTCTCC	0.547																																							uc001cce.1		NA																	0				ovary(1)|pancreas(1)	2						c.(505-507)ACC>ATC		metal-regulatory transcription factor 1							165.0	142.0	150.0					1																	38305733		2203	4300	6503	SO:0001583	missense	4520					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding	g.chr1:38305733G>A	BC014454	CCDS30676.1	1p33	2008-02-05			ENSG00000188786	ENSG00000188786			7428	protein-coding gene	gene with protein product		600172				8065932	Standard	NM_005955		Approved		uc001cce.1	Q14872	OTTHUMG00000004439	ENST00000373036.4:c.506C>T	1.37:g.38305733G>A	ENSP00000362127:p.Thr169Ile					MTF1_uc009vvj.1_5'UTR	p.T169I	NM_005955	NP_005946	Q14872	MTF1_HUMAN			3	647	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	169					B2RAK6|Q96CB1	Missense_Mutation	SNP	ENST00000373036.4	37	c.506C>T	CCDS30676.1	.	.	.	.	.	.	.	.	.	.	G	32	5.155089	0.94686	.	.	ENSG00000188786	ENST00000373036;ENST00000543396	T	0.15017	2.46	5.92	5.92	0.95590	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.32704	0.0838	L	0.39397	1.21	0.58432	D	0.999999	D	0.67145	0.996	P	0.59595	0.86	T	0.00351	-1.1796	10	0.52906	T	0.07	.	20.3248	0.98698	0.0:0.0:1.0:0.0	.	169	Q14872	MTF1_HUMAN	I	169;37	ENSP00000362127:T169I	ENSP00000362127:T169I	T	-	2	0	MTF1	38078320	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	9.575000	0.98187	2.818000	0.97014	0.655000	0.94253	ACC		0.547	MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012984.2	NM_005955		23	56	0	0	0	0.007291	0	23	56				
MACF1	23499	broad.mit.edu	37	1	39781279	39781279	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:39781279G>T	ENST00000372915.3	+	26	3467	c.3380G>T	c.(3379-3381)aGt>aTt	p.S1127I	MACF1_ENST00000317713.7_Missense_Mutation_p.S1127I|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000567887.1_Missense_Mutation_p.S1159I|MACF1_ENST00000361689.2_Missense_Mutation_p.S1127I|MACF1_ENST00000564288.1_Missense_Mutation_p.S1122I|MACF1_ENST00000545844.1_Missense_Mutation_p.S1127I|MACF1_ENST00000539005.1_Missense_Mutation_p.S1127I			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1127	Poly-Ser.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCTAGTTCAAGTGTCCCAACT	0.463																																							uc010ois.1		NA																	0				ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(3379-3381)AGT>ATT		microfilament and actin filament cross-linker							143.0	135.0	138.0					1																	39781279		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39781279G>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.3380G>T	1.37:g.39781279G>T	ENSP00000362006:p.Ser1127Ile					MACF1_uc001cda.1_Missense_Mutation_p.S1035I|MACF1_uc001cdc.1_Missense_Mutation_p.S214I|MACF1_uc009vvq.1_Missense_Mutation_p.S184I|MACF1_uc001cdb.1_Missense_Mutation_p.S214I	p.S1127I	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		28	3585	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	1127			Poly-Ser.		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.3380G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.8|26.8	4.769582|4.769582	0.90020|0.90020	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262	.|T;T;T;T;T;T;T	.|0.76709	.|-1.04;-1.04;-1.04;-1.04;-1.04;-1.04;-1.04	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	.|.	.|.	.|.	.|.	D|D	0.88440|0.88440	0.6437|0.6437	M|M	0.72118|0.72118	2.19|2.19	0.80722|0.80722	D|D	1|1	.|B;P;D	.|0.89917	.|0.202;0.922;1.0	.|B;P;D	.|0.91635	.|0.138;0.487;0.999	D|D	0.88360|0.88360	0.2987|0.2987	5|9	.|0.87932	.|D	.|0	.|.	20.3921|20.3921	0.98947|0.98947	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1127;1127;1092	.|F8W8Q1;Q9UPN3-2;Q9UPN3-3	.|.;.;.	N|I	260|1127;1127;1127;1127;1127;1085;1276	.|ENSP00000439537:S1127I;ENSP00000362006:S1127I;ENSP00000354573:S1127I;ENSP00000313438:S1127I;ENSP00000444364:S1127I;ENSP00000435070:S1085I;ENSP00000437059:S1276I	.|ENSP00000313438:S1127I	K|S	+|+	3|2	2|0	MACF1|MACF1	39553866|39553866	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.961000|0.961000	0.63080|0.63080	7.508000|7.508000	0.81686|0.81686	2.822000|2.822000	0.97130|0.97130	0.650000|0.650000	0.86243|0.86243	AAG|AGT		0.463	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		28	35	1	0	3.1745e-13	0.008361	4.74897e-13	28	35				
SMAP2	64744	broad.mit.edu	37	1	40882506	40882507	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:40882506_40882507CC>TT	ENST00000539317.1	+	9	855_856	c.662_663CC>TT	c.(661-663)cCC>cTT	p.P221L		NM_001198980.1	NP_001185909.1	Q8WU79	SMAP2_HUMAN	small ArfGAP2	301	Interaction with clathrin heavy chains. {ECO:0000250}.				regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			CCCAGCTTCCCCGGGGTTACAC	0.54																																							uc001cfj.2		NA																	0					0						c.(901-903)CCC>CTT		small ArfGAP2																																				SO:0001583	missense	64744				regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding	g.chr1:40882506_40882507CC>TT	AL137764	CCDS451.1, CCDS55592.1, CCDS55593.1, CCDS72763.1	1p35.3-p34.1	2008-09-22	2008-09-05	2008-01-09	ENSG00000084070	ENSG00000084070		"""ADP-ribosylation factor GTPase activating proteins"""	25082	protein-coding gene	gene with protein product			"""stromal membrane-associated protein 1-like"", ""stromal membrane-associated GTPase-activating protein 2"""	SMAP1L		16571680	Standard	NM_001198978		Approved		uc001cfj.3	Q8WU79	OTTHUMG00000007301	Exception_encountered	1.37:g.40882506_40882507delinsTT	ENSP00000442835:p.Pro221Leu					SMAP2_uc001cfk.2_Missense_Mutation_p.P271L|SMAP2_uc010oji.1_Missense_Mutation_p.P218L|SMAP2_uc010ojj.1_Missense_Mutation_p.P117L	p.P301L	NM_022733	NP_073570	Q8WU79	SMAP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)		9	967_968	+	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	301			Met-rich.		B2R7T1|B7Z5B5|B7Z8V2|D3DPV2|Q5QPL2|Q96C93|Q9NST2|Q9UJL8	Missense_Mutation	DNP	ENST00000539317.1	37	c.902_903CC>TT	CCDS55593.1																																																																																				0.540	SMAP2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022733		7	43	0	0	0	0.004672	0	7	43				
KCNQ4	9132	broad.mit.edu	37	1	41283859	41283859	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:41283859C>A	ENST00000347132.5	+	3	511	c.429C>A	c.(427-429)ttC>ttA	p.F143L	KCNQ4_ENST00000509682.2_Missense_Mutation_p.F143L	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	143					inner ear morphogenesis (GO:0042472)|potassium ion transport (GO:0006813)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		Ezogabine(DB04953)	TCGTGGTTTTCGGCTTGGAGT	0.617																																							uc001cgh.1		NA																	0				central_nervous_system(1)	1						c.(427-429)TTC>TTA		potassium voltage-gated channel KQT-like protein							128.0	105.0	113.0					1																	41283859		2203	4300	6503	SO:0001583	missense	9132				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex		g.chr1:41283859C>A	AF105202	CCDS456.1	1p34	2012-07-05			ENSG00000117013	ENSG00000117013		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6298	protein-coding gene	gene with protein product		603537		DFNA2		10025409, 16382104	Standard	NM_004700		Approved	Kv7.4	uc001cgh.2	P56696	OTTHUMG00000007730	ENST00000347132.5:c.429C>A	1.37:g.41283859C>A	ENSP00000262916:p.Phe143Leu					KCNQ4_uc001cgi.1_Missense_Mutation_p.F143L	p.F143L	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		3	511	+	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	143			Helical; Name=Segment S2; (Potential).		O96025	Missense_Mutation	SNP	ENST00000347132.5	37	c.429C>A	CCDS456.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.232877	0.79688	.	.	ENSG00000117013	ENST00000347132;ENST00000509682	D;D	0.98987	-5.3;-5.3	4.73	-5.89	0.02282	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98692	0.9561	M	0.71206	2.165	0.54753	D	0.999988	D;D	0.89917	1.0;1.0	D;D	0.83275	0.99;0.996	D	0.97797	1.0242	10	0.87932	D	0	-12.6173	12.8417	0.57806	0.0:0.469:0.0:0.531	.	143;143	P56696-2;P56696	.;KCNQ4_HUMAN	L	143	ENSP00000262916:F143L;ENSP00000423756:F143L	ENSP00000262916:F143L	F	+	3	2	KCNQ4	41056446	0.881000	0.30235	0.952000	0.39060	0.878000	0.50629	-0.084000	0.11268	-0.967000	0.03582	-2.100000	0.00362	TTC		0.617	KCNQ4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000020812.1	NM_004700		19	79	1	0	6.21321e-17	0.00278	9.96661e-17	19	79				
HIVEP3	59269	broad.mit.edu	37	1	42047384	42047384	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:42047384C>A	ENST00000372583.1	-	4	3970	c.3085G>T	c.(3085-3087)Gtg>Ttg	p.V1029L	HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000429157.2_Missense_Mutation_p.V1029L|HIVEP3_ENST00000372584.1_Missense_Mutation_p.V1029L|HIVEP3_ENST00000247584.5_Missense_Mutation_p.V1029L	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1029	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGTGGAGCCACTGGGGCTGGA	0.587																																							uc001cgz.3		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(3085-3087)GTG>TTG		human immunodeficiency virus type I enhancer							53.0	59.0	57.0					1																	42047384		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42047384C>A	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.3085G>T	1.37:g.42047384C>A	ENSP00000361664:p.Val1029Leu					HIVEP3_uc001cha.3_Missense_Mutation_p.V1029L|HIVEP3_uc001cgy.2_RNA	p.V1029L	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN			4	4298	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	1029			No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.3085G>T	CCDS463.1	.	.	.	.	.	.	.	.	.	.	C	1.003	-0.690183	0.03303	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	4.89	3.99	0.46301	.	1.439790	0.04440	N	0.370720	T	0.26991	0.0661	N	0.12746	0.255	0.09310	N	1	B;B	0.15930	0.015;0.009	B;B	0.15870	0.014;0.006	T	0.18745	-1.0327	10	0.51188	T	0.08	-0.0732	3.8501	0.08951	0.1657:0.5852:0.1603:0.0889	.	1029;1029	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	L	1029	ENSP00000361665:V1029L;ENSP00000361664:V1029L;ENSP00000247584:V1029L;ENSP00000410828:V1029L	ENSP00000247584:V1029L	V	-	1	0	HIVEP3	41819971	0.001000	0.12720	0.002000	0.10522	0.050000	0.14768	0.610000	0.24253	1.292000	0.44672	-0.379000	0.06801	GTG		0.587	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		11	34	1	0	1.08611e-07	0.000978	1.38156e-07	11	34				
CCDC30	728621	broad.mit.edu	37	1	43111805	43111805	+	Splice_Site	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:43111805G>C	ENST00000340612.4	+	13	1890		c.e13-1		CCDC30_ENST00000428554.2_Splice_Site|CCDC30_ENST00000507855.1_Splice_Site|CCDC30_ENST00000390640.4_Splice_Site|CCDC30_ENST00000342022.4_Splice_Site			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30							extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						TTTAAACTTAGAATCTTAAGG	0.358																																							uc009vwk.1		NA																	0					0						c.e14-1		coiled-coil domain containing 30							28.0	30.0	29.0					1																	43111805		2202	4299	6501	SO:0001630	splice_region_variant	728621							g.chr1:43111805G>C	AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"""prefoldin 6-like"""					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.1891-1G>C	1.37:g.43111805G>C						CCDC30_uc001chm.2_Splice_Site_p.N329_splice|CCDC30_uc001chn.2_Splice_Site_p.N420_splice	p.N631_splice	NM_001080850	NP_001074319	Q5VVM6	CCD30_HUMAN			14	2001	+								Q14F06|Q5VVM5	Splice_Site	SNP	ENST00000340612.4	37	c.1891_splice	CCDS30690.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.933930	0.34096	.	.	ENSG00000186409	ENST00000428554;ENST00000507855;ENST00000340612;ENST00000342022;ENST00000390640	.	.	.	1.63	1.63	0.23807	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.7262	0.23359	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC30	42884392	1.000000	0.71417	0.995000	0.50966	0.340000	0.28889	0.759000	0.26461	1.228000	0.43614	0.467000	0.42956	.		0.358	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019524.3	NM_025030	Intron	5	16	0	0	0	0.000602	0	5	16				
ST3GAL3	6487	broad.mit.edu	37	1	44386213	44386213	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:44386213G>T	ENST00000361392.4	+	10	1059	c.882G>T	c.(880-882)atG>atT	p.M294I	ST3GAL3_ENST00000353126.3_Intron|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000361812.4_Intron|ST3GAL3_ENST00000372377.4_3'UTR|ST3GAL3_ENST00000372374.2_Missense_Mutation_p.M263I|ST3GAL3_ENST00000531993.1_Intron|ST3GAL3_ENST00000372368.2_Missense_Mutation_p.M348I|ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000528371.1_Intron|ST3GAL3_ENST00000372372.2_Missense_Mutation_p.M332I|ST3GAL3_ENST00000335430.6_Missense_Mutation_p.W216L|ST3GAL3_ENST00000372375.2_Missense_Mutation_p.M348I|ST3GAL3_ENST00000372367.1_Intron|ST3GAL3_ENST00000372366.1_Intron|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000262915.3_Missense_Mutation_p.M363I|ST3GAL3_ENST00000347631.2_Missense_Mutation_p.M309I|ST3GAL3_ENST00000332628.6_Missense_Mutation_p.M263I|ST3GAL3_ENST00000351035.3_Missense_Mutation_p.M332I|ST3GAL3_ENST00000361746.4_Missense_Mutation_p.M363I|ST3GAL3_ENST00000372365.1_Intron|ST3GAL3_ENST00000361400.4_Missense_Mutation_p.M278I|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000372369.1_Missense_Mutation_p.M264I|ST3GAL3_ENST00000533933.1_Intron	NM_001270459.1|NM_006279.3|NM_174964.2	NP_001257388.1|NP_006270.1|NP_777624.1	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	294					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|N-acetyllactosaminide alpha-2,3-sialyltransferase activity (GO:0008118)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				ATGGCCTCATGGGCCGGGGGG	0.607																																							uc001ckc.2		NA																	0				ovary(3)	3						c.(880-882)ATG>ATT		sialyltransferase 6 isoform j							48.0	47.0	48.0					1																	44386213		2203	4300	6503	SO:0001583	missense	6487				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity	g.chr1:44386213G>T	L23768	CCDS492.1, CCDS493.1, CCDS494.1, CCDS495.1, CCDS496.1, CCDS497.1, CCDS498.1, CCDS499.1, CCDS500.1, CCDS53310.1, CCDS57988.1, CCDS57989.1, CCDS57990.1, CCDS57991.1, CCDS57992.1, CCDS57993.1, CCDS57994.1	1p34.1	2014-01-31	2005-02-07	2005-02-07	ENSG00000126091	ENSG00000126091	2.4.99.6	"""Sialyltransferases"""	10866	protein-coding gene	gene with protein product	"""ST3Gal III"""	606494	"""sialyltransferase 6 (N-acetyllacosaminide alpha 2,3-sialyltransferase)"", ""mental retardation, non-syndromic, autosomal recessive, 12"""	SIAT6, MRT12		8333853, 21907012	Standard	NM_174963		Approved		uc001cjz.4	Q11203	OTTHUMG00000007561	ENST00000361392.4:c.882G>T	1.37:g.44386213G>T	ENSP00000355341:p.Met294Ile					ST3GAL3_uc001cjz.2_Missense_Mutation_p.M309I|ST3GAL3_uc001cka.2_Intron|ST3GAL3_uc001ckb.2_Missense_Mutation_p.M363I|ST3GAL3_uc001ckd.2_Missense_Mutation_p.M348I|ST3GAL3_uc001cke.2_Missense_Mutation_p.M278I|ST3GAL3_uc001ckf.2_Missense_Mutation_p.M332I|ST3GAL3_uc001ckg.2_Intron|ST3GAL3_uc001ckh.2_Intron|ST3GAL3_uc001cki.2_Intron|ST3GAL3_uc009vwv.2_Missense_Mutation_p.M264I|ST3GAL3_uc001ckj.2_RNA|ST3GAL3_uc009vww.2_RNA|ST3GAL3_uc001ckk.2_Missense_Mutation_p.M263I|ST3GAL3_uc009vwy.2_Missense_Mutation_p.M200I|ST3GAL3_uc009vwx.2_Intron|ST3GAL3_uc001ckm.2_Intron|ST3GAL3_uc001ckl.2_Intron|ST3GAL3_uc009vwz.2_Missense_Mutation_p.M68I|ST3GAL3_uc001ckn.2_Intron|ST3GAL3_uc001ckp.2_Intron|ST3GAL3_uc001cko.2_Intron|ST3GAL3_uc009vxa.2_Missense_Mutation_p.M81I|ST3GAL3_uc001ckq.2_Intron|ST3GAL3_uc001ckr.2_Intron|ST3GAL3_uc009vxb.2_Intron	p.M294I	NM_006279	NP_006270	Q11203	SIAT6_HUMAN			10	1059	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)	294			Lumenal (Potential).		A9Z1W2|D3DPX8|Q5T4W9|Q5T4X0|Q5T4X7|Q5T4X8|Q5T4X9|Q5T4Y0|Q5T4Y2|Q5T4Y3|Q5T4Y4|Q86UR6|Q86UR7|Q86UR8|Q86UR9|Q86US0|Q86US1|Q86US2|Q8IX41|Q8IX42|Q8IX43|Q8IX44|Q8IX45|Q8IX46|Q8IX47|Q8IX48|Q8IX49|Q8IX50|Q8IX51|Q8IX52|Q8IX53|Q8IX54|Q8IX55|Q8IX56|Q8IX57|Q8IX58	Missense_Mutation	SNP	ENST00000361392.4	37	c.882G>T	CCDS492.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.7|28.7	4.946536|4.946536	0.92593|0.92593	.|.	.|.	ENSG00000126091|ENSG00000126091	ENST00000361392;ENST00000361400;ENST00000262915;ENST00000372375;ENST00000351035;ENST00000372374;ENST00000347631;ENST00000372369;ENST00000361746;ENST00000372368;ENST00000372372;ENST00000332628|ENST00000335430;ENST00000490502	T;T;T;T;T;T;T;T;T;T;T;T|T	0.57752|0.59224	0.66;0.91;0.68;0.68;0.68;0.68;0.65;0.38;0.68;0.68;0.68;0.68|0.28	4.75|4.75	4.75|4.75	0.60458|0.60458	.|.	0.101366|.	0.64402|.	D|.	0.000001|.	T|T	0.73133|0.73133	0.3548|0.3548	M|M	0.72118|0.72118	2.19|2.19	0.80722|0.80722	D|D	1|1	D;P;P;P;D;P;P;P;D|.	0.55800|.	0.967;0.749;0.57;0.594;0.962;0.856;0.942;0.935;0.973|.	P;B;B;P;P;P;P;P;P|.	0.52217|.	0.501;0.341;0.255;0.561;0.501;0.693;0.636;0.693;0.634|.	T|T	0.77368|0.77368	-0.2614|-0.2614	10|7	0.18276|0.87932	T|D	0.48|0	.|.	18.1291|18.1291	0.89596|0.89596	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	309;264;263;332;278;348;294;363;309|.	Q11203-2;Q11203-5;Q11203-7;Q11203-19;Q11203-15;Q11203-13;Q11203;Q11203-4;Q5T4W8|.	.;.;.;.;.;.;SIAT6_HUMAN;.;.|.	I|L	294;278;363;348;332;263;309;264;363;348;332;263|216;93	ENSP00000355341:M294I;ENSP00000354748:M278I;ENSP00000262915:M363I;ENSP00000361450:M348I;ENSP00000316999:M332I;ENSP00000361449:M263I;ENSP00000317192:M309I;ENSP00000361444:M264I;ENSP00000354657:M363I;ENSP00000361443:M348I;ENSP00000361447:M332I;ENSP00000329755:M263I|ENSP00000335633:W216L	ENSP00000262915:M363I|ENSP00000335633:W216L	M|W	+|+	3|2	0|0	ST3GAL3|ST3GAL3	44158800|44158800	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.029000|9.029000	0.93718|0.93718	2.351000|2.351000	0.79841|0.79841	0.591000|0.591000	0.81541|0.81541	ATG|TGG		0.607	ST3GAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019964.1	NM_174963		15	35	1	0	1.56452e-12	0.007413	2.31028e-12	15	35				
SLC6A9	6536	broad.mit.edu	37	1	44476516	44476516	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:44476516C>G	ENST00000360584.2	-	3	479	c.288G>C	c.(286-288)caG>caC	p.Q96H	SLC6A9_ENST00000372310.3_Missense_Mutation_p.Q23H|SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000537678.1_Intron|SLC6A9_ENST00000357730.2_Missense_Mutation_p.Q42H|SLC6A9_ENST00000372306.3_Missense_Mutation_p.Q23H|SLC6A9_ENST00000372307.3_5'UTR|SLC6A9_ENST00000475075.2_Intron	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	96					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	GTTTGAGGTTCTGGTCCCTCT	0.592																																							uc001cll.2		NA																	0					0						c.(286-288)CAG>CAC		solute carrier family 6 member 9 isoform 2	Glycine(DB00145)						202.0	163.0	176.0					1																	44476516		2203	4300	6503	SO:0001583	missense	6536					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr1:44476516C>G	S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"""Solute carriers"""	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000360584.2:c.288G>C	1.37:g.44476516C>G	ENSP00000353791:p.Gln96His					SLC6A9_uc009vxe.2_5'UTR|SLC6A9_uc010okm.1_Missense_Mutation_p.Q23H|SLC6A9_uc001clm.2_Missense_Mutation_p.Q42H|SLC6A9_uc009vxd.2_RNA|SLC6A9_uc010okn.1_Missense_Mutation_p.Q42H|SLC6A9_uc001cln.2_Missense_Mutation_p.Q23H|SLC6A9_uc010oko.1_Intron|SLC6A9_uc010okp.1_Intron	p.Q96H	NM_201649	NP_964012	P48067	SC6A9_HUMAN			3	480	-	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	96			Cytoplasmic (Potential).		A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Missense_Mutation	SNP	ENST00000360584.2	37	c.288G>C	CCDS41317.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.534473	0.45073	.	.	ENSG00000196517	ENST00000372306;ENST00000372310;ENST00000360584;ENST00000357730;ENST00000528803;ENST00000466926	T;T;T;T;T;T	0.74842	-0.88;-0.77;-0.82;-0.8;-0.71;0.15	5.06	5.06	0.68205	.	0.236078	0.42172	N	0.000741	T	0.54464	0.1860	N	0.08118	0	0.80722	D	1	B;B;B;B;B	0.06786	0.0;0.001;0.0;0.001;0.001	B;B;B;B;B	0.08055	0.0;0.001;0.003;0.0;0.001	T	0.54529	-0.8280	10	0.59425	D	0.04	.	10.8799	0.46933	0.0:0.9127:0.0:0.0873	.	42;23;23;42;96	B7Z3W8;B7Z8W5;P48067-2;P48067-3;P48067	.;.;.;.;SC6A9_HUMAN	H	23;23;96;42;42;77	ENSP00000361380:Q23H;ENSP00000361384:Q23H;ENSP00000353791:Q96H;ENSP00000350362:Q42H;ENSP00000435652:Q42H;ENSP00000433241:Q77H	ENSP00000350362:Q42H	Q	-	3	2	SLC6A9	44249103	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.370000	0.44240	2.623000	0.88846	0.591000	0.81541	CAG		0.592	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000022825.2	NM_201649		21	42	0	0	0	0.005443	0	21	42				
FAF1	11124	broad.mit.edu	37	1	51171477	51171478	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:51171477_51171478CC>AA	ENST00000396153.2	-	7	1088_1089	c.637_638GG>TT	c.(637-639)GGa>TTa	p.G213L	FAF1_ENST00000371778.4_Missense_Mutation_p.G213L	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	213					apoptotic process (GO:0006915)|cell death (GO:0008219)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein complex assembly (GO:0031334)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of cell adhesion (GO:0030155)|regulation of protein catabolic process (GO:0042176)|regulation of protein kinase activity (GO:0045859)	CD95 death-inducing signaling complex (GO:0031265)|Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	heat shock protein binding (GO:0031072)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.0?(2)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		AGTACTGCTTCCTGAGAAGTTC	0.431																																							uc009vyx.1		NA																	2	Whole gene deletion(2)	p.0?(1)	thyroid(1)|haematopoietic_and_lymphoid_tissue(1)	ovary(1)|pancreas(1)	2						c.(637-639)GGA>TTA		FAS-associated factor 1																																				SO:0001583	missense	11124				apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	g.chr1:51171477_51171478CC>AA	AF132938	CCDS554.1	1p32.3	2012-09-20			ENSG00000185104	ENSG00000185104		"""UBX domain containing"""	3578	protein-coding gene	gene with protein product	"""TNFRSF6-associated factor 1"", ""UBX domain protein 3A"""	604460				10462485	Standard	NM_007051		Approved	CGI-03, hFAF1, HFAF1s, UBXD12, UBXN3A	uc001cse.1	Q9UNN5	OTTHUMG00000007930	ENST00000396153.2:c.637_638delinsAA	1.37:g.51171477_51171478delinsAA	ENSP00000379457:p.Gly213Leu					FAF1_uc009vyw.1_Intron|FAF1_uc001cse.1_Missense_Mutation_p.G213L	p.G213L	NM_007051	NP_008982	Q9UNN5	FAF1_HUMAN		GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)	8	700_701	-			213					Q549F0|Q9UF34|Q9UNT3|Q9Y2Z3	Missense_Mutation	DNP	ENST00000396153.2	37	c.637_638GG>TT	CCDS554.1																																																																																				0.431	FAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021807.1	NM_007051		5	25	0	0	0	0.004672	0	5	25				
ACOT11	26027	broad.mit.edu	37	1	55066961	55066961	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:55066961G>A	ENST00000371316.3	+	9	986	c.904G>A	c.(904-906)Gtg>Atg	p.V302M	ACOT11_ENST00000343744.2_Missense_Mutation_p.V302M|ACOT11_ENST00000481208.1_3'UTR	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	302	Acyl coenzyme A hydrolase 2.				fatty acid metabolic process (GO:0006631)|intracellular signal transduction (GO:0035556)|response to cold (GO:0009409)|response to temperature stimulus (GO:0009266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						GGGCGTGTGCGTGGAGGCCTA	0.612																																					Ovarian(148;1440 1861 22015 32453 51933)	Ovarian(148;1440 1861 22015 32453 51933)	uc001cxm.1		NA																	0				central_nervous_system(1)	1						c.(904-906)GTG>ATG		thioesterase, adipose associated isoform BFIT1							87.0	77.0	81.0					1																	55066961		2203	4300	6503	SO:0001583	missense	26027				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity	g.chr1:55066961G>A	AB014607	CCDS592.1, CCDS593.1	1p32.3	2011-09-13	2005-09-08	2005-09-08	ENSG00000162390	ENSG00000162390	3.1.2.-	"""Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing"""	18156	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 14"""	606803	"""thioesterase, adipose associated"""	THEA		11696000, 16103133, 16940157	Standard	NM_015547		Approved	STARD14, BFIT, KIAA0707, BFIT1, THEM1	uc001cxl.2	Q8WXI4	OTTHUMG00000009891	ENST00000371316.3:c.904G>A	1.37:g.55066961G>A	ENSP00000360366:p.Val302Met					ACOT11_uc001cxj.1_Missense_Mutation_p.V180M|ACOT11_uc001cxl.1_Missense_Mutation_p.V302M	p.V302M	NM_015547	NP_056362	Q8WXI4	ACO11_HUMAN			9	986	+			302			Acyl coenzyme A hydrolase 2.		B1AQ22|D3DQ50|O75187|Q52LP1|Q53ER9|Q96DI1|Q9H883	Missense_Mutation	SNP	ENST00000371316.3	37	c.904G>A	CCDS592.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.553163	0.86127	.	.	ENSG00000162390	ENST00000343744;ENST00000371316	T;T	0.29397	1.57;1.57	5.0	5.0	0.66597	Thioesterase superfamily (1);	0.111082	0.64402	D	0.000015	T	0.58133	0.2101	M	0.83312	2.635	0.41185	D	0.986267	D;D	0.71674	0.998;0.993	P;P	0.62813	0.907;0.802	T	0.66712	-0.5854	10	0.87932	D	0	-11.2484	17.9173	0.88955	0.0:0.0:1.0:0.0	.	302;302	Q8WXI4;Q8WXI4-2	ACO11_HUMAN;.	M	302	ENSP00000340260:V302M;ENSP00000360366:V302M	ENSP00000340260:V302M	V	+	1	0	ACOT11	54839549	1.000000	0.71417	0.965000	0.40720	0.831000	0.47069	6.579000	0.74036	2.312000	0.78011	0.561000	0.74099	GTG		0.612	ACOT11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027356.1	NM_015547		3	45	0	0	0	0.004672	0	3	45				
C8A	731	broad.mit.edu	37	1	57349308	57349308	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:57349308C>T	ENST00000361249.3	+	6	905	c.809C>T	c.(808-810)tCa>tTa	p.S270L		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	270	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GTATCCCACTCACAAGACACT	0.408																																							uc001cyo.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(808-810)TCA>TTA		complement component 8, alpha polypeptide							72.0	69.0	70.0					1																	57349308		2203	4300	6503	SO:0001583	missense	731				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		g.chr1:57349308C>T	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"""Complement system"""	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.809C>T	1.37:g.57349308C>T	ENSP00000354458:p.Ser270Leu						p.S270L	NM_000562	NP_000553	P07357	CO8A_HUMAN			6	941	+			270			MACPF.		A2RUI4|A2RUI5|Q13668|Q9H130	Missense_Mutation	SNP	ENST00000361249.3	37	c.809C>T	CCDS606.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.635646	0.67130	.	.	ENSG00000157131	ENST00000361249	D	0.86627	-2.15	5.84	4.88	0.63580	Membrane attack complex component/perforin (MACPF) domain (2);	0.514142	0.22937	N	0.053831	D	0.93871	0.8039	M	0.86651	2.83	0.18873	N	0.999986	D	0.76494	0.999	D	0.76575	0.988	D	0.87643	0.2523	10	0.72032	D	0.01	-13.0902	14.9581	0.71135	0.0:0.7393:0.2607:0.0	.	270	P07357	CO8A_HUMAN	L	270	ENSP00000354458:S270L	ENSP00000354458:S270L	S	+	2	0	C8A	57121896	0.258000	0.24033	0.115000	0.21578	0.003000	0.03518	1.394000	0.34509	2.779000	0.95612	0.591000	0.81541	TCA		0.408	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562		19	25	0	0	0	0.00278	0	19	25				
DAB1	1600	broad.mit.edu	37	1	57476916	57476916	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:57476916G>C	ENST00000371231.1	-	14	1607	c.1573C>G	c.(1573-1575)Cca>Gca	p.P525A	DAB1_ENST00000439789.2_Missense_Mutation_p.P406A|DAB1_ENST00000420954.2_Missense_Mutation_p.P490A|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371236.2_Missense_Mutation_p.P492A|DAB1_ENST00000371234.4_Missense_Mutation_p.P492A|DAB1_ENST00000414851.2_Missense_Mutation_p.P474A			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	525					adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GATTTGGATGGAGAGCTCTGT	0.488																																							uc001cys.1		NA																	0				skin(2)|ovary(1)	3						c.(1474-1476)CCA>GCA		disabled homolog 1							125.0	123.0	124.0					1																	57476916		2203	4300	6503	SO:0001583	missense	1600				cell differentiation|nervous system development			g.chr1:57476916G>C	BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"""disabled (Drosophila) homolog 1"", ""disabled homolog 1 (Drosophila)"", ""Dab, reelin signal transducer, homolog 1 (Drosophila)"", ""Dab reelin signal transducer 1"""			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.1573C>G	1.37:g.57476916G>C	ENSP00000360275:p.Pro525Ala					DAB1_uc001cyt.1_Missense_Mutation_p.P490A|DAB1_uc001cyq.1_Missense_Mutation_p.P490A|DAB1_uc001cyr.1_Missense_Mutation_p.P406A|DAB1_uc009vzw.1_Missense_Mutation_p.P474A|DAB1_uc009vzx.1_Missense_Mutation_p.P492A	p.P492A	NM_021080	NP_066566	O75553	DAB1_HUMAN			15	2148	-			525					A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Missense_Mutation	SNP	ENST00000371231.1	37	c.1474C>G		.	.	.	.	.	.	.	.	.	.	G	14.38	2.516989	0.44763	.	.	ENSG00000173406	ENST00000371236;ENST00000371233;ENST00000371234;ENST00000420954;ENST00000414851;ENST00000439789;ENST00000371231	T;T;T;T;T;T	0.52754	0.66;0.66;0.65;0.66;1.68;0.69	4.96	4.96	0.65561	.	0.161173	0.56097	D	0.000028	T	0.61974	0.2390	L	0.56769	1.78	0.58432	D	0.999999	D;D;D;P;D	0.64830	0.958;0.98;0.976;0.919;0.994	P;P;P;B;P	0.62560	0.671;0.804;0.793;0.444;0.904	T	0.54173	-0.8333	10	0.20519	T	0.43	-15.5588	18.7462	0.91794	0.0:0.0:1.0:0.0	.	474;525;492;406;490	O75553-4;O75553;O75553-6;O75553-3;O75553-5	.;DAB1_HUMAN;.;.;.	A	492;492;492;490;474;406;525	ENSP00000360280:P492A;ENSP00000360278:P492A;ENSP00000395296:P490A;ENSP00000387581:P474A;ENSP00000409328:P406A;ENSP00000360275:P525A	ENSP00000360275:P525A	P	-	1	0	DAB1	57249504	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	6.023000	0.70848	2.724000	0.93272	0.555000	0.69702	CCA		0.488	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080		11	67	0	0	0	0.001855	0	11	67				
SGIP1	84251	broad.mit.edu	37	1	67105493	67105493	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:67105493G>T	ENST00000371037.4	+	5	282	c.205G>T	c.(205-207)Gcg>Tcg	p.A69S	SGIP1_ENST00000371036.3_Missense_Mutation_p.A44S|SGIP1_ENST00000468286.1_3'UTR|SGIP1_ENST00000237247.6_Missense_Mutation_p.A73S|SGIP1_ENST00000371039.1_Missense_Mutation_p.A45S|SGIP1_ENST00000371035.3_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	69					endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TGGATTTTATGCGGAAATTGA	0.294																																							uc001dcr.2		NA																	0				ovary(3)	3						c.(205-207)GCG>TCG		SH3-domain GRB2-like (endophilin) interacting							91.0	92.0	92.0					1																	67105493		2203	4300	6503	SO:0001583	missense	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67105493G>T	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.205G>T	1.37:g.67105493G>T	ENSP00000360076:p.Ala69Ser						p.A69S	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN			5	422	+			69					A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	c.205G>T	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.233695	0.58886	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000424320;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037	T;T;T;T;T	0.03386	3.95;3.95;3.95;3.95;3.95	5.34	5.34	0.76211	.	0.117057	0.64402	D	0.000020	T	0.01387	0.0045	L	0.47716	1.5	0.26984	N	0.965309	B	0.12013	0.005	B	0.06405	0.002	T	0.46289	-0.9202	10	0.07030	T	0.85	-17.3393	14.7294	0.69368	0.0:0.0:0.8547:0.1453	.	69	Q9BQI5	SGIP1_HUMAN	S	73;45;69;72;72;44;69	ENSP00000237247:A73S;ENSP00000360078:A45S;ENSP00000410439:A69S;ENSP00000360075:A44S;ENSP00000360076:A69S	ENSP00000237247:A73S	A	+	1	0	SGIP1	66878081	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.091000	0.76923	2.487000	0.83934	0.655000	0.94253	GCG		0.294	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		6	39	1	0	2.17888e-05	0.006214	2.52532e-05	6	39				
LRRC7	57554	broad.mit.edu	37	1	70504868	70504868	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:70504868G>T	ENST00000035383.5	+	19	3277	c.3247G>T	c.(3247-3249)Gag>Tag	p.E1083*	LRRC7_ENST00000310961.5_Nonsense_Mutation_p.E1088*|LRRC7_ENST00000415775.2_Nonsense_Mutation_p.E367*	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1083						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CCCACCGATGGAGCAAATGTT	0.517																																							uc001dep.2		NA																	0				ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(3247-3249)GAG>TAG		leucine rich repeat containing 7							66.0	70.0	69.0					1																	70504868		2203	4300	6503	SO:0001587	stop_gained	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70504868G>T		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.3247G>T	1.37:g.70504868G>T	ENSP00000035383:p.Glu1083*					LRRC7_uc009wbg.2_Nonsense_Mutation_p.E367*|LRRC7_uc001deq.2_Nonsense_Mutation_p.E324*	p.E1083*	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			19	3277	+			1083					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Nonsense_Mutation	SNP	ENST00000035383.5	37	c.3247G>T	CCDS645.1	.	.	.	.	.	.	.	.	.	.	G	46	12.959120	0.99709	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	18.9453	0.92620	0.0:0.0:1.0:0.0	.	.	.	.	X	1088;1083;367;906	.	ENSP00000035383:E1083X	E	+	1	0	LRRC7	70277456	1.000000	0.71417	1.000000	0.80357	0.021000	0.10359	9.373000	0.97168	2.721000	0.93114	0.655000	0.94253	GAG		0.517	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		16	36	1	0	9.16793e-09	0.00499	1.2118e-08	16	36				
ERICH3	127254	broad.mit.edu	37	1	75037079	75037079	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:75037079G>A	ENST00000326665.5	-	14	4533	c.4315C>T	c.(4315-4317)Cgg>Tgg	p.R1439W	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1439	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GAGGTCTTCCGCTCCAGGGCT	0.612																																							uc001dgg.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(4315-4317)CGG>TGG		hypothetical protein LOC127254							98.0	100.0	99.0					1																	75037079		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75037079G>A																												ENST00000326665.5:c.4315C>T	1.37:g.75037079G>A	ENSP00000322609:p.Arg1439Trp						p.R1439W	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			14	4534	-			1439			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.4315C>T	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	10.45	1.354217	0.24512	.	.	ENSG00000178965	ENST00000326665	T	0.14022	2.54	4.32	-0.576	0.11731	.	.	.	.	.	T	0.01905	0.0060	N	0.08118	0	0.09310	N	1	P	0.51653	0.947	B	0.40101	0.319	T	0.39292	-0.9621	9	0.66056	D	0.02	0.217	5.8822	0.18862	0.0:0.4894:0.1613:0.3493	.	1439	Q5RHP9	CA173_HUMAN	W	1439	ENSP00000322609:R1439W	ENSP00000322609:R1439W	R	-	1	2	C1orf173	74809667	0.002000	0.14202	0.000000	0.03702	0.014000	0.08584	0.804000	0.27098	-0.265000	0.09352	-0.919000	0.02742	CGG		0.612	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			4	132	0	0	0	0.000602	0	4	132				
ST6GALNAC5	81849	broad.mit.edu	37	1	77510192	77510192	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:77510192C>A	ENST00000477717.1	+	3	800	c.565C>A	c.(565-567)Ctg>Atg	p.L189M		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	189					glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						CTACAACAACCTGCATCTCCT	0.597																																							uc001dhi.2		NA																	0				pancreas(1)|skin(1)	2						c.(565-567)CTG>ATG		sialyltransferase 7E							99.0	98.0	98.0					1																	77510192		2203	4300	6503	SO:0001583	missense	81849				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:77510192C>A		CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"""Sialyltransferases"""	19342	protein-coding gene	gene with protein product		610134	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"""	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.565C>A	1.37:g.77510192C>A	ENSP00000417583:p.Leu189Met					ST6GALNAC5_uc010ori.1_Intron|ST6GALNAC5_uc009wbw.2_RNA	p.L189M	NM_030965	NP_112227	Q9BVH7	SIA7E_HUMAN			3	740	+			189			Lumenal (Potential).		B1AK82	Missense_Mutation	SNP	ENST00000477717.1	37	c.565C>A	CCDS673.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.028454	0.75390	.	.	ENSG00000117069	ENST00000477717;ENST00000438953	T	0.30182	1.54	5.46	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.53174	0.1780	M	0.92649	3.33	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.63734	-0.6570	10	0.52906	T	0.07	-13.9073	11.1956	0.48711	0.0:0.8529:0.0:0.1471	.	189	Q9BVH7	SIA7E_HUMAN	M	189;99	ENSP00000417583:L189M	ENSP00000436263:L189M	L	+	1	2	ST6GALNAC5	77282780	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.856000	0.62932	1.288000	0.44600	0.655000	0.94253	CTG		0.597	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026692.2	NM_030965		17	99	1	0	5.3912e-06	0.006122	6.42881e-06	17	99				
DPYD	1806	broad.mit.edu	37	1	97658647	97658647	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:97658647C>A	ENST00000370192.3	-	20	2700	c.2600G>T	c.(2599-2601)cGt>cTt	p.R867L	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	867					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	TTCAGCTATACGTGGAACTGG	0.423																																							uc001drv.2		NA																	0				ovary(3)|skin(3)|breast(2)	8						c.(2599-2601)CGT>CTT		dihydropyrimidine dehydrogenase isoform 1	Capecitabine(DB01101)|Enfuvirtide(DB00109)						199.0	172.0	181.0					1																	97658647		2203	4300	6503	SO:0001583	missense	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:97658647C>A	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.2600G>T	1.37:g.97658647C>A	ENSP00000359211:p.Arg867Leu						p.R867L	NM_000110	NP_000101	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	20	2737	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	867					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	c.2600G>T	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.891962	0.00522	.	.	ENSG00000188641	ENST00000370192	D	0.89552	-2.53	5.81	-4.47	0.03525	.	0.923471	0.09453	N	0.800145	T	0.51466	0.1676	N	0.12182	0.205	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.49679	-0.8914	10	0.11182	T	0.66	0.1887	7.0875	0.25266	0.0:0.358:0.1962:0.4458	.	867	Q12882	DPYD_HUMAN	L	867	ENSP00000359211:R867L	ENSP00000359211:R867L	R	-	2	0	DPYD	97431235	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-2.800000	0.00761	-1.000000	0.03438	-0.759000	0.03464	CGT		0.423	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		10	43	1	0	1.3612e-06	0.003163	1.67559e-06	10	43				
PLPPR4	9890	broad.mit.edu	37	1	99771548	99771548	+	Missense_Mutation	SNP	T	T	C	rs370842121		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:99771548T>C	ENST00000370185.3	+	7	1771	c.1274T>C	c.(1273-1275)gTa>gCa	p.V425A	LPPR4_ENST00000370184.1_Missense_Mutation_p.V267A|LPPR4_ENST00000457765.1_Missense_Mutation_p.V367A	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		425					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		ACCCCATCTGTAGAAGACCCT	0.493																																							uc001dse.2		NA																	0				ovary(3)	3						c.(1273-1275)GTA>GCA		plasticity related gene 1		T	ALA/VAL,ALA/VAL	0,4406		0,0,2203	60.0	62.0	61.0		1274,1100	5.7	0.5	1		61	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	LPPR4	NM_014839.4,NM_001166252.1	64,64	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign,benign	425/764,367/706	99771548	1,13005	2203	4300	6503	SO:0001583	missense	9890						phosphatidate phosphatase activity	g.chr1:99771548T>C																												ENST00000370185.3:c.1274T>C	1.37:g.99771548T>C	ENSP00000359204:p.Val425Ala					LPPR4_uc010oue.1_Missense_Mutation_p.V367A	p.V425A	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	7	1380	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	425					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	c.1274T>C	CCDS757.1	.	.	.	.	.	.	.	.	.	.	T	8.050	0.765874	0.15983	0.0	1.16E-4	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178;ENST00000370184	T;T;T	0.22134	2.53;2.56;1.97	5.71	5.71	0.89125	.	0.797376	0.11965	N	0.512393	T	0.07908	0.0198	N	0.22421	0.69	0.38221	D	0.940745	B;B	0.22146	0.065;0.001	B;B	0.24541	0.054;0.006	T	0.20505	-1.0273	9	.	.	.	-13.092	15.975	0.80057	0.0:0.0:0.0:1.0	.	367;425	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	A	425;367;425;267	ENSP00000359204:V425A;ENSP00000394913:V367A;ENSP00000359203:V267A	.	V	+	2	0	RP4-788L13.1	99544136	0.936000	0.31750	0.473000	0.27253	0.096000	0.18686	4.024000	0.57218	2.168000	0.68352	0.528000	0.53228	GTA		0.493	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			5	19	0	0	0	0.001168	0	5	19				
AGL	178	broad.mit.edu	37	1	100368266	100368266	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:100368266G>A	ENST00000294724.4	+	27	4094	c.3616G>A	c.(3616-3618)Gaa>Aaa	p.E1206K	AGL_ENST00000370163.3_Missense_Mutation_p.E1206K|AGL_ENST00000361302.3_Missense_Mutation_p.E1190K|AGL_ENST00000370161.2_Missense_Mutation_p.E1190K|AGL_ENST00000361915.3_Missense_Mutation_p.E1206K|AGL_ENST00000370165.3_Missense_Mutation_p.E1206K|AGL_ENST00000361522.4_Missense_Mutation_p.E1189K	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1206					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		AGTCATACAGGAAGCAATGCA	0.408																																							uc001dsi.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(3616-3618)GAA>AAA		amylo-1,6-glucosidase,							114.0	107.0	109.0					1																	100368266		2203	4300	6503	SO:0001583	missense	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100368266G>A	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.3616G>A	1.37:g.100368266G>A	ENSP00000294724:p.Glu1206Lys					AGL_uc001dsj.1_Missense_Mutation_p.E1206K|AGL_uc001dsk.1_Missense_Mutation_p.E1206K|AGL_uc001dsl.1_Missense_Mutation_p.E1206K|AGL_uc001dsm.1_Missense_Mutation_p.E1190K|AGL_uc001dsn.1_Missense_Mutation_p.E1189K	p.E1206K	NM_000642	NP_000633	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	27	4016	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	1206			4-alpha-glucanotransferase.		A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	c.3616G>A	CCDS759.1	.	.	.	.	.	.	.	.	.	.	G	32	5.175231	0.94807	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	T;T;T;T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65	6.04	6.04	0.98038	Six-hairpin glycosidase-like (1);	0.000000	0.85682	D	0.000000	D	0.86280	0.5895	M	0.89214	3.015	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.994;0.994;0.997	D	0.87274	0.2288	10	0.87932	D	0	-10.9604	20.1786	0.98192	0.0:0.0:1.0:0.0	.	1189;1190;1206	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	K	1206;1206;1206;1206;1190;1190;1189	ENSP00000355106:E1206K;ENSP00000359184:E1206K;ENSP00000359182:E1206K;ENSP00000294724:E1206K;ENSP00000354971:E1190K;ENSP00000359180:E1190K;ENSP00000354635:E1189K	ENSP00000294724:E1206K	E	+	1	0	AGL	100140854	1.000000	0.71417	1.000000	0.80357	0.512000	0.34134	7.635000	0.83286	2.870000	0.98441	0.637000	0.83480	GAA		0.408	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		10	37	0	0	0	0.001855	0	10	37				
COL11A1	1301	broad.mit.edu	37	1	103385898	103385898	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:103385898G>T	ENST00000370096.3	-	49	4043	c.3731C>A	c.(3730-3732)tCt>tAt	p.S1244Y	COL11A1_ENST00000512756.1_Missense_Mutation_p.S1128Y|COL11A1_ENST00000353414.4_Missense_Mutation_p.S1205Y|COL11A1_ENST00000358392.2_Missense_Mutation_p.S1256Y	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1244	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)			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)		TGAACCAACAGACCCTGGGGG	0.363																																							uc001dul.2		NA																	0				ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(3730-3732)TCT>TAT		alpha 1 type XI collagen isoform A							151.0	163.0	159.0					1																	103385898		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.chr1:103385898G>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.3731C>A	1.37:g.103385898G>T	ENSP00000359114:p.Ser1244Tyr					COL11A1_uc001duk.2_Missense_Mutation_p.S440Y|COL11A1_uc001dum.2_Missense_Mutation_p.S1256Y|COL11A1_uc001dun.2_Missense_Mutation_p.S1205Y|COL11A1_uc009weh.2_Missense_Mutation_p.S1128Y	p.S1244Y	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	49	4049	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1244			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.3731C>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.281300	0.59758	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.94457	-3.43;-3.43;-3.43;-3.43	6.06	5.15	0.70609	.	0.127580	0.53938	D	0.000042	D	0.87446	0.6179	L	0.28192	0.835	0.46437	D	0.999043	B;B;B;B;B	0.22983	0.013;0.078;0.078;0.047;0.032	B;B;B;B;B	0.26202	0.03;0.067;0.067;0.03;0.046	D	0.85423	0.1144	10	0.72032	D	0.01	.	14.7761	0.69732	0.0697:0.0:0.9303:0.0	.	1128;1205;1256;1244;464	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	Y	1244;1256;1205;464;1128	ENSP00000359114:S1244Y;ENSP00000351163:S1256Y;ENSP00000302551:S1205Y;ENSP00000426533:S1128Y	ENSP00000302551:S1205Y	S	-	2	0	COL11A1	103158486	1.000000	0.71417	0.985000	0.45067	0.945000	0.59286	4.486000	0.60286	2.880000	0.98712	0.650000	0.86243	TCT		0.363	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		25	70	1	0	2.61193e-14	0.009535	3.97131e-14	25	70				
KCNA10	3744	broad.mit.edu	37	1	111060633	111060633	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:111060633C>A	ENST00000369771.2	-	1	1164	c.777G>T	c.(775-777)aaG>aaT	p.K259N		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	259					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Dalfampridine(DB06637)	AGAGGACTGTCTTGCTCATGT	0.547																																							uc001dzt.1		NA																	0				ovary(3)|large_intestine(1)	4						c.(775-777)AAG>AAT		potassium voltage-gated channel, shaker-related							206.0	162.0	177.0					1																	111060633		2203	4300	6503	SO:0001583	missense	3744					voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity	g.chr1:111060633C>A	U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6219	protein-coding gene	gene with protein product		602420				16382104	Standard	NM_005549		Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.777G>T	1.37:g.111060633C>A	ENSP00000358786:p.Lys259Asn						p.K259N	NM_005549	NP_005540	Q16322	KCA10_HUMAN		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	1	1165	-		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)	259						Missense_Mutation	SNP	ENST00000369771.2	37	c.777G>T	CCDS826.1	.	.	.	.	.	.	.	.	.	.	C	0.119	-1.128420	0.01756	.	.	ENSG00000143105	ENST00000369771	D	0.97041	-4.22	5.8	1.85	0.25348	.	.	.	.	.	T	0.82006	0.4943	N	0.12182	0.205	0.09310	N	1	B	0.10296	0.003	B	0.11329	0.006	T	0.73940	-0.3824	9	0.17832	T	0.49	.	5.1871	0.15189	0.0:0.4657:0.2224:0.3119	.	259	Q16322	KCA10_HUMAN	N	259	ENSP00000358786:K259N	ENSP00000358786:K259N	K	-	3	2	KCNA10	110862156	0.000000	0.05858	0.109000	0.21407	0.464000	0.32679	0.414000	0.21164	0.091000	0.17302	0.655000	0.94253	AAG		0.547	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1	NM_005549		32	70	1	0	8.73648e-17	0.004289	1.39991e-16	32	70				
KCNA2	3737	broad.mit.edu	37	1	111146816	111146816	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:111146816C>A	ENST00000485317.1	-	3	1262	c.589G>T	c.(589-591)Ggt>Tgt	p.G197C	KCNA2_ENST00000440270.1_Missense_Mutation_p.G197C|KCNA2_ENST00000525120.1_Intron|KCNA2_ENST00000369770.3_Missense_Mutation_p.G197C|KCNA2_ENST00000316361.4_Missense_Mutation_p.G197C			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	197					optic nerve structural organization (GO:0021633)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	Dalfampridine(DB06637)	ACCCCACTACCATGCATGTCT	0.468																																					Pancreas(18;568 735 10587 23710 36357)	Pancreas(18;568 735 10587 23710 36357)	uc001dzu.2		NA																	0				ovary(1)	1						c.(589-591)GGT>TGT		potassium voltage-gated channel, shaker-related							145.0	139.0	141.0					1																	111146816		2203	4300	6503	SO:0001583	missense	3737					juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111146816C>A	L02752	CCDS827.1, CCDS55625.1	1p13	2012-07-05			ENSG00000177301	ENSG00000177301		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6220	protein-coding gene	gene with protein product		176262				16382104	Standard	NM_004974		Approved	Kv1.2, HK4	uc009wfw.3	P16389	OTTHUMG00000011567	ENST00000485317.1:c.589G>T	1.37:g.111146816C>A	ENSP00000433109:p.Gly197Cys					KCNA2_uc009wfv.1_Missense_Mutation_p.G197C|KCNA2_uc009wfw.2_Missense_Mutation_p.G197C	p.G197C	NM_004974	NP_004965	P16389	KCNA2_HUMAN		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	2	1085	-		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	197					Q86XG6	Missense_Mutation	SNP	ENST00000485317.1	37	c.589G>T	CCDS827.1	.	.	.	.	.	.	.	.	.	.	C	8.735	0.917615	0.17982	.	.	ENSG00000177301	ENST00000369770;ENST00000485317;ENST00000440270;ENST00000316361	T;D;D;D	0.96940	-1.49;-4.18;-4.18;-4.18	5.87	4.02	0.46733	.	0.474881	0.24193	N	0.040700	D	0.91663	0.7365	M	0.64997	1.995	0.38811	D	0.955415	P;B	0.43826	0.818;0.245	B;B	0.38755	0.281;0.114	D	0.90109	0.4190	10	0.56958	D	0.05	.	10.4633	0.44592	0.0:0.7932:0.0:0.2068	.	197;197	Q86XG6;P16389	.;KCNA2_HUMAN	C	197	ENSP00000358785:G197C;ENSP00000433109:G197C;ENSP00000415257:G197C;ENSP00000314520:G197C	ENSP00000314520:G197C	G	-	1	0	KCNA2	110948339	0.772000	0.28567	0.439000	0.26833	0.979000	0.70002	1.622000	0.36997	0.835000	0.34877	-0.136000	0.14681	GGT		0.468	KCNA2-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128001.2	NM_004974		14	56	1	0	0.000308642	0.003163	0.000341227	14	56				
HAO2	51179	broad.mit.edu	37	1	119927405	119927405	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:119927405A>G	ENST00000325945.3	+	4	363	c.290A>G	c.(289-291)cAa>cGa	p.Q97R	HAO2_ENST00000361035.4_Missense_Mutation_p.Q110R	NM_001005783.1|NM_016527.2	NP_001005783.1|NP_057611.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	97	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				fatty acid oxidation (GO:0019395)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		ACAGCTGCCCAAGCGGCTGGT	0.547																																							uc001ehq.1		NA																	0				ovary(2)|skin(2)	4						c.(289-291)CAA>CGA		hydroxyacid oxidase 2							56.0	52.0	53.0					1																	119927405		2203	4300	6503	SO:0001583	missense	51179				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity	g.chr1:119927405A>G	AF231917	CCDS901.1	1p13.3-p13.1	2008-07-18			ENSG00000116882	ENSG00000116882	1.1.3.15		4810	protein-coding gene	gene with protein product	"""(S)-2-hydroxy-acid oxidase"", ""glycolate oxidase"", ""long-chain L-2-hydroxy acid oxidase"", ""growth-inhibiting protein 16"""	605176				10777549	Standard	XM_005270913		Approved	HAOX2, GIG16	uc001ehr.1	Q9NYQ3	OTTHUMG00000012410	ENST00000325945.3:c.290A>G	1.37:g.119927405A>G	ENSP00000316339:p.Gln97Arg					HAO2_uc001ehr.1_Missense_Mutation_p.Q97R	p.Q97R	NM_001005783	NP_001005783	Q9NYQ3	HAOX2_HUMAN		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)	5	642	+	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)	97			FMN hydroxy acid dehydrogenase.		Q2TU86|Q5QP00|Q9UJS6	Missense_Mutation	SNP	ENST00000325945.3	37	c.290A>G	CCDS901.1	.	.	.	.	.	.	.	.	.	.	A	11.05	1.525726	0.27299	.	.	ENSG00000116882	ENST00000361035;ENST00000325945	T;T	0.29397	1.57;1.57	5.33	4.21	0.49690	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.163075	0.52532	D	0.000064	T	0.07413	0.0187	L	0.28504	0.86	0.31615	N	0.650987	B	0.02656	0.0	B	0.04013	0.001	T	0.25363	-1.0134	9	.	.	.	-7.0915	6.5224	0.22283	0.7253:0.1324:0.1423:0.0	.	97	Q9NYQ3	HAOX2_HUMAN	R	110;97	ENSP00000354314:Q110R;ENSP00000316339:Q97R	.	Q	+	2	0	HAO2	119728928	1.000000	0.71417	0.862000	0.33874	0.974000	0.67602	2.088000	0.41663	1.051000	0.40369	0.482000	0.46254	CAA		0.547	HAO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034984.1	NM_001005783		7	20	0	0	0	0.006214	0	7	20				
Unknown	0	broad.mit.edu	37	1	148644433	148644433	+	IGR	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:148644433T>A								RNVU1-15 (39361 upstream) : NBPF16 (95009 downstream)																							TCATCTGTGCTGCCAAGACTG	0.478																																							uc010paz.1		NA																	0					0						c.(346-348)GCT>GCA		peptidylprolyl isomerase A (cyclophilin A)-like							1.0	1.0	1.0					1																	148644433		313	778	1091	SO:0001628	intergenic_variant	730262				protein folding		peptidyl-prolyl cis-trans isomerase activity	g.chr1:148644433T>A																													1.37:g.148644433T>A							p.A116A	NM_001144032	NP_001137504	F5H284	F5H284_HUMAN			1	423	+			116						Silent	SNP		37	c.348T>A																																																																																				0	0.478									48	91	0	0	0	0.00361	0	48	91				
HIST2H2AC	8338	broad.mit.edu	37	1	149858795	149858795	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:149858795G>T	ENST00000331380.2	+	1	271	c.271G>T	c.(271-273)Gac>Tac	p.D91Y	HIST2H2BE_ENST00000369155.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	91						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.D91H(1)		NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CATCCGCAACGACGAGGAACT	0.597																																							uc001etd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(271-273)GAC>TAC		histone cluster 2, H2ac							67.0	68.0	68.0					1																	149858795		2203	4296	6499	SO:0001583	missense	8338				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149858795G>T	AY131973	CCDS937.1	1q21.2	2011-01-27	2006-10-11	2003-02-21	ENSG00000184260	ENSG00000184260		"""Histones / Replication-dependent"""	4738	protein-coding gene	gene with protein product		602797	"""H2A histone family, member Q"", ""histone 2, H2ac"""	H2A, H2AFQ		1469070, 9439656, 12408966	Standard	NM_003517		Approved	H2A/q	uc001etd.3	Q16777	OTTHUMG00000035825	ENST00000331380.2:c.271G>T	1.37:g.149858795G>T	ENSP00000332194:p.Asp91Tyr					HIST2H2BE_uc001etc.2_5'Flank	p.D91Y	NM_003517	NP_003508	Q16777	H2A2C_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		1	271	+	Breast(34;0.0124)|all_hematologic(923;0.127)		91					Q6DRA7|Q8IUE5	Missense_Mutation	SNP	ENST00000331380.2	37	c.271G>T	CCDS937.1	.	.	.	.	.	.	.	.	.	.	G	8.822	0.937795	0.18206	.	.	ENSG00000184260	ENST00000331380	T	0.70869	-0.52	5.56	2.71	0.32032	Histone-fold (2);Histone core (1);Histone H2A (1);	0.000000	0.46758	D	0.000261	D	0.89104	0.6620	H	0.99951	5.03	0.38569	D	0.949909	D	0.89917	1.0	D	0.97110	1.0	D	0.89610	0.3841	10	0.72032	D	0.01	.	9.9885	0.41856	0.2101:0.0:0.7899:0.0	.	91	Q16777	H2A2C_HUMAN	Y	91	ENSP00000332194:D91Y	ENSP00000332194:D91Y	D	+	1	0	HIST2H2AC	148125419	1.000000	0.71417	0.996000	0.52242	0.112000	0.19704	6.544000	0.73878	0.325000	0.23359	-0.136000	0.14681	GAC		0.597	HIST2H2AC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087128.1	NM_003517		10	53	1	0	2.35188e-11	0.006122	3.34985e-11	10	53				
SV2A	9900	broad.mit.edu	37	1	149885080	149885080	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:149885080C>T	ENST00000369146.3	-	2	803	c.313G>A	c.(313-315)Gag>Aag	p.E105K	SV2A_ENST00000369145.1_Missense_Mutation_p.E105K	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	105					cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	CCCCCAGACTCTGCCCGGGGA	0.637																																							uc001etg.2		NA																	0				ovary(6)|pancreas(1)	7						c.(313-315)GAG>AAG		synaptic vesicle glycoprotein 2	Levetiracetam(DB01202)						101.0	103.0	102.0					1																	149885080		2203	4300	6503	SO:0001583	missense	9900				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr1:149885080C>T	AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.313G>A	1.37:g.149885080C>T	ENSP00000358142:p.Glu105Lys					SV2A_uc001eth.2_Missense_Mutation_p.E105K	p.E105K	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		2	804	-	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		105			Cytoplasmic (Potential).		D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Missense_Mutation	SNP	ENST00000369146.3	37	c.313G>A	CCDS940.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.335876	0.41398	.	.	ENSG00000159164	ENST00000369146;ENST00000369145	T;T	0.31510	1.49;1.49	5.08	5.08	0.68730	.	0.348275	0.29587	N	0.011733	T	0.11836	0.0288	N	0.22421	0.69	0.49483	D	0.999799	B	0.23128	0.08	B	0.23275	0.045	T	0.06075	-1.0847	10	0.19590	T	0.45	-26.7216	17.6262	0.88095	0.0:1.0:0.0:0.0	.	105	Q7L0J3	SV2A_HUMAN	K	105	ENSP00000358142:E105K;ENSP00000358141:E105K	ENSP00000358141:E105K	E	-	1	0	SV2A	148151704	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	4.725000	0.61979	2.639000	0.89480	0.563000	0.77884	GAG		0.637	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1			56	180	0	0	0	0.00361	0	56	180				
TCHH	7062	broad.mit.edu	37	1	152081942	152081942	+	Silent	SNP	G	G	T	rs182639950	byFrequency	TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:152081942G>T	ENST00000368804.1	-	2	3750	c.3751C>A	c.(3751-3753)Cgg>Agg	p.R1251R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1251					keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCAACTGCCGGAACTGTTCA	0.507																																							uc001ezp.2		NA																	0				ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(3751-3753)CGG>AGG		trichohyalin							87.0	86.0	86.0					1																	152081942		2021	4182	6203	SO:0001819	synonymous_variant	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152081942G>T	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.3751C>A	1.37:g.152081942G>T						TCHH_uc009wne.1_Silent_p.R1251R	p.R1251R	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	3751	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1251					Q5VUI3	Silent	SNP	ENST00000368804.1	37	c.3751C>A	CCDS41396.1																																																																																				0.507	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		38	18	1	0	1.04594e-18	0.00623	1.70913e-18	38	18				
HRNR	388697	broad.mit.edu	37	1	152191721	152191721	+	Missense_Mutation	SNP	C	C	A	rs201506455		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:152191721C>A	ENST00000368801.2	-	3	2459	c.2384G>T	c.(2383-2385)gGg>gTg	p.G795V	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	795					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGCCAGACCCGTGTTGGCC	0.602																																							uc001ezt.1		NA																	0				skin(2)|ovary(1)	3						c.(2383-2385)GGG>GTG		hornerin							68.0	72.0	71.0					1																	152191721		2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152191721C>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2384G>T	1.37:g.152191721C>A	ENSP00000357791:p.Gly795Val						p.G795V	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2460	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		795			8.		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.2384G>T	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	C	3.744	-0.052948	0.07362	.	.	ENSG00000197915	ENST00000368801	T	0.03801	3.8	2.74	1.8	0.24995	.	.	.	.	.	T	0.02610	0.0079	L	0.57536	1.79	0.09310	N	1	P	0.51933	0.949	P	0.47299	0.543	T	0.43310	-0.9399	9	0.34782	T	0.22	.	5.6758	0.17747	0.0:0.8372:0.0:0.1628	.	795	Q86YZ3	HORN_HUMAN	V	795	ENSP00000357791:G795V	ENSP00000357791:G795V	G	-	2	0	HRNR	150458345	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.709000	0.25734	0.494000	0.27859	0.456000	0.33151	GGG		0.602	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		30	16	1	0	1.50538e-07	0.00632	1.90511e-07	30	16				
FLG2	388698	broad.mit.edu	37	1	152324460	152324460	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:152324460G>C	ENST00000388718.5	-	3	5874	c.5802C>G	c.(5800-5802)caC>caG	p.H1934Q	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1934					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGACTAGGGTGGCCATGTT	0.522																																							uc001ezw.3		NA																	0				ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(5800-5802)CAC>CAG		filaggrin family member 2							343.0	315.0	324.0					1																	152324460		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152324460G>C	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.5802C>G	1.37:g.152324460G>C	ENSP00000373370:p.His1934Gln					uc001ezv.2_Intron	p.H1934Q	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5875	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1934			Filaggrin 8.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.5802C>G	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.692813	0.00731	.	.	ENSG00000143520	ENST00000388718	T	0.03717	3.83	3.44	-2.39	0.06602	.	.	.	.	.	T	0.00637	0.0021	N	0.17723	0.515	0.09310	N	1	B	0.17038	0.02	B	0.24974	0.057	T	0.46470	-0.9189	9	0.02654	T	1	2.5205	9.3129	0.37917	0.0:0.2591:0.6385:0.1024	.	1934	Q5D862	FILA2_HUMAN	Q	1934	ENSP00000373370:H1934Q	ENSP00000373370:H1934Q	H	-	3	2	FLG2	150591084	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-8.005000	0.00026	-0.434000	0.07275	-0.345000	0.07892	CAC		0.522	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		108	113	0	0	0	0.00361	0	108	113				
SPRR2D	6703	broad.mit.edu	37	1	153012776	153012776	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:153012776G>A	ENST00000368757.1	-	2	327	c.47C>T	c.(46-48)cCt>cTt	p.P16L	SPRR2D_ENST00000360379.3_Missense_Mutation_p.P16L|SPRR2D_ENST00000368756.1_Missense_Mutation_p.P16L|SPRR2D_ENST00000368758.3_Missense_Mutation_p.P16L			P22532	SPR2D_HUMAN	small proline-rich protein 2D	16					epidermis development (GO:0008544)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)				endometrium(1)|skin(1)	2	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGGGCACACAGGAGGTGGCTG	0.582																																							uc001fbb.2		NA																	0					0						c.(46-48)CCT>CTT		small proline-rich protein 2D							38.0	38.0	38.0					1																	153012776		2193	4263	6456	SO:0001583	missense	6703				keratinization	cornified envelope|cytoplasm		g.chr1:153012776G>A	AF333954	CCDS30864.1	1q21-q22	2008-02-05			ENSG00000163216	ENSG00000163216			11264	protein-coding gene	gene with protein product						8325635	Standard	NM_006945		Approved		uc001fbb.2	P22532	OTTHUMG00000014396	ENST00000368757.1:c.47C>T	1.37:g.153012776G>A	ENSP00000357746:p.Pro16Leu					SPRR2D_uc009wnz.2_RNA	p.P16L	NM_006945	NP_008876	P22532	SPR2D_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	107	-	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		16					A4QN03|A8K5K2|D3DV33|Q5T523|Q96RM3	Missense_Mutation	SNP	ENST00000368757.1	37	c.47C>T	CCDS30864.1	.	.	.	.	.	.	.	.	.	.	G	9.859	1.195755	0.22037	.	.	ENSG00000163216	ENST00000360379;ENST00000368758;ENST00000368757;ENST00000368756	T;T;T;T	0.53206	0.63;0.63;0.63;0.63	3.82	1.79	0.24919	.	0.000000	0.35320	N	0.003294	T	0.18341	0.0440	.	.	.	0.32587	N	0.527753	B	0.06786	0.001	B	0.09377	0.004	T	0.07770	-1.0755	9	0.87932	D	0	.	7.0479	0.25056	0.2439:0.0:0.7561:0.0	.	16	P22532	SPR2D_HUMAN	L	16	ENSP00000353542:P16L;ENSP00000357747:P16L;ENSP00000357746:P16L;ENSP00000357745:P16L	ENSP00000353542:P16L	P	-	2	0	SPRR2D	151279400	1.000000	0.71417	0.972000	0.41901	0.883000	0.51084	2.943000	0.49026	0.685000	0.31468	0.455000	0.32223	CCT		0.582	SPRR2D-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040051.1			69	51	0	0	0	0.00361	0	69	51				
C1orf43	25912	broad.mit.edu	37	1	154180095	154180095	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:154180095C>A	ENST00000368521.5	-	7	794	c.596G>T	c.(595-597)cGa>cTa	p.R199L	C1orf43_ENST00000368519.1_Missense_Mutation_p.R181L|C1orf43_ENST00000350592.3_Missense_Mutation_p.R165L|C1orf189_ENST00000368525.3_5'Flank|C1orf43_ENST00000362076.4_Missense_Mutation_p.R147L|C1orf43_ENST00000483282.1_5'UTR	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN	chromosome 1 open reading frame 43	199						integral component of membrane (GO:0016021)	coenzyme binding (GO:0050662)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					CTGGTGATGTCGCTGAGAGCT	0.512																																							uc001fei.2		NA																	0					0						c.(595-597)CGA>CTA		hypothetical protein LOC25912 isoform 3							199.0	179.0	186.0					1																	154180095		2203	4300	6503	SO:0001583	missense	25912					integral to membrane	coenzyme binding|oxidoreductase activity	g.chr1:154180095C>A	AF077036	CCDS1061.1, CCDS1062.1, CCDS41404.1, CCDS72924.1	1q21.2	2012-06-25			ENSG00000143612	ENSG00000143612			29876	protein-coding gene	gene with protein product						11042152, 11230159	Standard	XM_005245077		Approved	NICE-3, DKFZp586G1722	uc001fei.2	Q9BWL3	OTTHUMG00000035981	ENST00000368521.5:c.596G>T	1.37:g.154180095C>A	ENSP00000357507:p.Arg199Leu					C1orf189_uc001fee.1_5'Flank|C1orf43_uc001fef.1_Missense_Mutation_p.R96L|C1orf43_uc001feg.2_Missense_Mutation_p.R165L|C1orf43_uc001feh.2_Missense_Mutation_p.R147L|C1orf43_uc001fej.2_Missense_Mutation_p.R181L|C1orf43_uc009wos.1_3'UTR	p.R199L	NM_001098616	NP_001092086	Q9BWL3	CA043_HUMAN			7	986	-	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)		199					A8K3G8|D3DV72|D3DV74|Q5M801|Q5VU73|Q5VU83|Q96HP7|Q9UFU2|Q9UGL7|Q9UGL8|Q9Y2R6	Missense_Mutation	SNP	ENST00000368521.5	37	c.596G>T	CCDS41404.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.844221	0.71488	.	.	ENSG00000143612	ENST00000350592;ENST00000368521;ENST00000362076;ENST00000368519	.	.	.	5.55	5.55	0.83447	Dehydrogenase, multihelical (1);	0.116339	0.64402	D	0.000019	T	0.26231	0.0640	N	0.19112	0.55	0.80722	D	1	P;P;P;P	0.44690	0.841;0.468;0.673;0.753	B;B;B;B	0.40256	0.324;0.176;0.261;0.173	T	0.18745	-1.0327	9	0.62326	D	0.03	-2.8827	11.9947	0.53194	0.0:0.9223:0.0:0.0777	.	165;199;147;165	Q9BWL3-2;Q9BWL3;Q9BWL3-4;Q09GN0	.;CA043_HUMAN;.;.	L	165;199;147;181	.	ENSP00000271925:R165L	R	-	2	0	C1orf43	152446719	1.000000	0.71417	0.978000	0.43139	0.900000	0.52787	3.117000	0.50407	2.890000	0.99128	0.585000	0.79938	CGA		0.512	C1orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087664.2	NM_015449		14	70	1	0	7.93312e-07	0.00245	9.78967e-07	14	70				
SYT11	23208	broad.mit.edu	37	1	155851152	155851152	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:155851152C>A	ENST00000368324.4	+	4	1402	c.1149C>A	c.(1147-1149)gaC>gaA	p.D383E	SYT11_ENST00000539162.1_Missense_Mutation_p.D76E	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	383	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				negative regulation of neurotransmitter secretion (GO:0046929)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			TCGTTATCGACTTCGATCGCA	0.527																																							uc001fmg.2		NA																	0				ovary(1)|skin(1)	2						c.(1147-1149)GAC>GAA		synaptotagmin XI							240.0	248.0	245.0					1																	155851152		2203	4300	6503	SO:0001583	missense	23208					cell junction|synaptic vesicle membrane	protein binding|transporter activity	g.chr1:155851152C>A	D38522	CCDS1122.1	1q22	2013-01-21			ENSG00000132718	ENSG00000132718		"""Synaptotagmins"""	19239	protein-coding gene	gene with protein product		608741				11543631	Standard	NM_152280		Approved	KIAA0080, MGC10881, MGC17226, DKFZp781D015	uc001fmg.3	Q9BT88	OTTHUMG00000014105	ENST00000368324.4:c.1149C>A	1.37:g.155851152C>A	ENSP00000357307:p.Asp383Glu					SYT11_uc010pgq.1_Missense_Mutation_p.D76E	p.D383E	NM_152280	NP_689493	Q9BT88	SYT11_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.000162)		4	1412	+	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		383			C2 2.|Cytoplasmic (Potential).		Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	Missense_Mutation	SNP	ENST00000368324.4	37	c.1149C>A	CCDS1122.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.049211	0.75846	.	.	ENSG00000132718	ENST00000368324;ENST00000539162	T;T	0.80480	-1.38;-1.38	5.27	3.42	0.39159	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.87438	0.6177	M	0.91768	3.24	0.58432	D	0.99999	D	0.89917	1.0	D	0.80764	0.994	D	0.88014	0.2764	10	0.87932	D	0	.	8.082	0.30750	0.0:0.6894:0.0:0.3106	.	383	Q9BT88	SYT11_HUMAN	E	383;76	ENSP00000357307:D383E;ENSP00000441657:D76E	ENSP00000357307:D383E	D	+	3	2	SYT11	154117776	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.630000	0.37081	0.816000	0.34421	0.655000	0.94253	GAC		0.527	SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039597.1	NM_152280		191	130	1	0	1.91102e-82	0.00361	3.59252e-82	191	130				
SYT11	23208	broad.mit.edu	37	1	155851170	155851170	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:155851170G>C	ENST00000368324.4	+	4	1420	c.1167G>C	c.(1165-1167)aaG>aaC	p.K389N	SYT11_ENST00000539162.1_Missense_Mutation_p.K82N	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	389	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				negative regulation of neurotransmitter secretion (GO:0046929)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			GCACCACCAAGAATGAGGTGG	0.562																																							uc001fmg.2		NA																	0				ovary(1)|skin(1)	2						c.(1165-1167)AAG>AAC		synaptotagmin XI							177.0	185.0	182.0					1																	155851170		2203	4300	6503	SO:0001583	missense	23208					cell junction|synaptic vesicle membrane	protein binding|transporter activity	g.chr1:155851170G>C	D38522	CCDS1122.1	1q22	2013-01-21			ENSG00000132718	ENSG00000132718		"""Synaptotagmins"""	19239	protein-coding gene	gene with protein product		608741				11543631	Standard	NM_152280		Approved	KIAA0080, MGC10881, MGC17226, DKFZp781D015	uc001fmg.3	Q9BT88	OTTHUMG00000014105	ENST00000368324.4:c.1167G>C	1.37:g.155851170G>C	ENSP00000357307:p.Lys389Asn					SYT11_uc010pgq.1_Missense_Mutation_p.K82N	p.K389N	NM_152280	NP_689493	Q9BT88	SYT11_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.000162)		4	1430	+	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		389			C2 2.|Cytoplasmic (Potential).		Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	Missense_Mutation	SNP	ENST00000368324.4	37	c.1167G>C	CCDS1122.1	.	.	.	.	.	.	.	.	.	.	G	19.86	3.904979	0.72868	.	.	ENSG00000132718	ENST00000368324;ENST00000539162	T;T	0.73258	-0.73;-0.73	5.27	4.36	0.52297	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.79992	0.4542	M	0.83384	2.64	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	T	0.83320	-0.0018	10	0.72032	D	0.01	.	11.4022	0.49876	0.1507:0.0:0.8493:0.0	.	389	Q9BT88	SYT11_HUMAN	N	389;82	ENSP00000357307:K389N;ENSP00000441657:K82N	ENSP00000357307:K389N	K	+	3	2	SYT11	154117794	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	2.162000	0.42367	1.452000	0.47756	0.655000	0.94253	AAG		0.562	SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039597.1	NM_152280		70	166	0	0	0	0.00361	0	70	166				
NTRK1	4914	broad.mit.edu	37	1	156838013	156838013	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:156838013C>T	ENST00000524377.1	+	5	587	c.546C>T	c.(544-546)ccC>ccT	p.P182P	NTRK1_ENST00000392302.2_Silent_p.P152P|NTRK1_ENST00000358660.3_Silent_p.P182P|NTRK1_ENST00000368196.3_Silent_p.P182P	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	182	LRRCT.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	GGCAAGGGCCCCTGGCCCACA	0.647			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)																													uc001fqh.1		NA		Dom	yes		1	1q21-q22	4914	T	"""neurotrophic tyrosine kinase, receptor, type 1"""			E	TPM3|TPR|TFG		papillary thyroid		0				lung(9)|ovary(6)|stomach(1)|central_nervous_system(1)	17						c.(544-546)CCC>CCT		neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)						47.0	45.0	45.0					1																	156838013		2203	4300	6503	SO:0001819	synonymous_variant	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156838013C>T	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.546C>T	1.37:g.156838013C>T		TSP Lung(10;0.080)				NTRK1_uc001fqf.1_Silent_p.P152P|NTRK1_uc009wsi.1_5'UTR|NTRK1_uc001fqi.1_Silent_p.P182P|NTRK1_uc009wsk.1_Silent_p.P182P	p.P182P	NM_002529	NP_002520	P04629	NTRK1_HUMAN			5	602	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		182			LRRCT.|Extracellular (Potential).		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Silent	SNP	ENST00000524377.1	37	c.546C>T	CCDS1161.1																																																																																				0.647	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		11	13	0	0	0	0.000978	0	11	13				
ARHGEF11	9826	broad.mit.edu	37	1	156914841	156914841	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:156914841C>A	ENST00000361409.2	-	29	3583	c.2841G>T	c.(2839-2841)agG>agT	p.R947S	ARHGEF11_ENST00000368194.3_Missense_Mutation_p.R987S|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.R363S|ARHGEF11_ENST00000487682.1_5'UTR	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	947					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R987S(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGTTGCTGGCCCTCTCCAGGG	0.562																																							uc001fqo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9						c.(2839-2841)AGG>AGT		Rho guanine nucleotide exchange factor (GEF) 11							117.0	124.0	122.0					1																	156914841		2203	4300	6503	SO:0001583	missense	9826				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:156914841C>A	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.2841G>T	1.37:g.156914841C>A	ENSP00000354644:p.Arg947Ser					ARHGEF11_uc010phu.1_Missense_Mutation_p.R363S|ARHGEF11_uc001fqn.2_Missense_Mutation_p.R987S	p.R947S	NM_014784	NP_055599	O15085	ARHGB_HUMAN			29	3881	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		947					D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	ENST00000361409.2	37	c.2841G>T	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.528556	0.85706	.	.	ENSG00000132694	ENST00000368194;ENST00000361409;ENST00000315174	T;T;T	0.63096	-0.02;-0.02;-0.02	5.28	4.37	0.52481	Pleckstrin homology-type (1);	0.000000	0.64402	D	0.000004	T	0.52075	0.1712	L	0.32530	0.975	0.50813	D	0.999891	B;D;P	0.58268	0.2;0.982;0.867	B;P;P	0.54759	0.141;0.76;0.522	T	0.56481	-0.7972	10	0.46703	T	0.11	-23.3216	13.5549	0.61754	0.0:0.9244:0.0:0.0756	.	363;947;987	F8W8P9;O15085;O15085-2	.;ARHGB_HUMAN;.	S	987;947;363	ENSP00000357177:R987S;ENSP00000354644:R947S;ENSP00000313470:R363S	ENSP00000313470:R363S	R	-	3	2	ARHGEF11	155181465	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.259000	0.32956	1.457000	0.47850	0.650000	0.86243	AGG		0.562	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236		98	72	1	0	1.11883e-47	0.00361	2.07185e-47	98	72				
ARHGEF11	9826	broad.mit.edu	37	1	156918261	156918261	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:156918261G>C	ENST00000361409.2	-	22	2577	c.1835C>G	c.(1834-1836)tCt>tGt	p.S612C	ARHGEF11_ENST00000368194.3_Missense_Mutation_p.S652C|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.S28C|ARHGEF11_ENST00000487682.1_5'Flank	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	612					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GAGGCTTTCAGAGCGGCCCAG	0.572																																							uc001fqo.2		NA																	0				ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9						c.(1834-1836)TCT>TGT		Rho guanine nucleotide exchange factor (GEF) 11							66.0	62.0	63.0					1																	156918261		2203	4300	6503	SO:0001583	missense	9826				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:156918261G>C	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.1835C>G	1.37:g.156918261G>C	ENSP00000354644:p.Ser612Cys					ARHGEF11_uc010phu.1_Missense_Mutation_p.S28C|ARHGEF11_uc001fqn.2_Missense_Mutation_p.S652C|ARHGEF11_uc001fqp.1_Missense_Mutation_p.S131C	p.S612C	NM_014784	NP_055599	O15085	ARHGB_HUMAN			22	2875	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		612					D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	ENST00000361409.2	37	c.1835C>G	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.435815	0.83885	.	.	ENSG00000132694	ENST00000368194;ENST00000361409;ENST00000315174	T;T;T	0.74947	-0.54;-0.56;-0.89	5.75	5.75	0.90469	.	0.000000	0.56097	D	0.000032	T	0.76176	0.3951	N	0.24115	0.695	0.51482	D	0.999925	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.998;0.999	T	0.79834	-0.1636	10	0.87932	D	0	-15.7786	19.5353	0.95251	0.0:0.0:1.0:0.0	.	28;28;612;652	F8W8P9;B7Z7U2;O15085;O15085-2	.;.;ARHGB_HUMAN;.	C	652;612;28	ENSP00000357177:S652C;ENSP00000354644:S612C;ENSP00000313470:S28C	ENSP00000313470:S28C	S	-	2	0	ARHGEF11	155184885	1.000000	0.71417	0.996000	0.52242	0.978000	0.69477	5.993000	0.70616	2.725000	0.93324	0.655000	0.94253	TCT		0.572	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236		15	44	0	0	0	0.007413	0	15	44				
CD1C	911	broad.mit.edu	37	1	158262459	158262459	+	Silent	SNP	C	C	A	rs3138103	byFrequency	TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:158262459C>A	ENST00000368170.3	+	4	963	c.684C>A	c.(682-684)tcC>tcA	p.S228S		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	228	Ig-like.				antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					GTCATGCCTCCGGCTTCTACC	0.532																																							uc001fru.2		NA																	0				ovary(2)|skin(1)|pancreas(1)	4						c.(682-684)TCC>TCA		CD1C antigen precursor							82.0	81.0	82.0					1																	158262459		2203	4300	6503	SO:0001819	synonymous_variant	911				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	g.chr1:158262459C>A	M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1636	protein-coding gene	gene with protein product		188340	"""CD1C antigen, c polypeptide"", ""CD1c antigen"""	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.684C>A	1.37:g.158262459C>A						CD1C_uc001frv.2_Silent_p.S31S	p.S228S	NM_001765	NP_001756	P29017	CD1C_HUMAN			4	976	+	all_hematologic(112;0.0378)		228			Extracellular (Potential).|Ig-like.		Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Silent	SNP	ENST00000368170.3	37	c.684C>A	CCDS1175.1																																																																																				0.532	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046351.2	NM_001765		28	20	1	0	1.77063e-15	0.005443	2.7715e-15	28	20				
SPTA1	6708	broad.mit.edu	37	1	158609404	158609404	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:158609404G>A	ENST00000368147.4	-	35	5128	c.4948C>T	c.(4948-4950)Cag>Tag	p.Q1650*		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1650					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCCAATAGCTGATGCTTCTTG	0.478																																							uc001fst.1		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(4948-4950)CAG>TAG		spectrin, alpha, erythrocytic 1							169.0	163.0	165.0					1																	158609404		1917	4140	6057	SO:0001587	stop_gained	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158609404G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4948C>T	1.37:g.158609404G>A	ENSP00000357129:p.Gln1650*						p.Q1650*	NM_003126	NP_003117	P02549	SPTA1_HUMAN			35	5147	-	all_hematologic(112;0.0378)		1650			Spectrin 16.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Nonsense_Mutation	SNP	ENST00000368147.4	37	c.4948C>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	46	12.297924	0.99655	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	.	.	.	5.35	5.35	0.76521	.	0.000000	0.30695	N	0.009062	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	18.1658	0.89724	0.0:0.0:1.0:0.0	.	.	.	.	X	1650	.	ENSP00000357129:Q1650X	Q	-	1	0	SPTA1	156876028	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.865000	0.92300	2.941000	0.99782	0.655000	0.94253	CAG		0.478	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		56	58	0	0	0	0.00361	0	56	58				
SPTA1	6708	broad.mit.edu	37	1	158646020	158646020	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:158646020G>T	ENST00000368147.4	-	8	1203	c.1023C>A	c.(1021-1023)atC>atA	p.I341I		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	341					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCATCTCCTGGATCTGAGGTG	0.468																																							uc001fst.1		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(1021-1023)ATC>ATA		spectrin, alpha, erythrocytic 1							206.0	196.0	199.0					1																	158646020		1927	4142	6069	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158646020G>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1023C>A	1.37:g.158646020G>T							p.I341I	NM_003126	NP_003117	P02549	SPTA1_HUMAN			8	1222	-	all_hematologic(112;0.0378)		341			Spectrin 4.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.1023C>A	CCDS41423.1																																																																																				0.468	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		90	71	1	0	3.19611e-63	0.00361	5.98566e-63	90	71				
OR6K3	391114	broad.mit.edu	37	1	158687187	158687187	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:158687187C>G	ENST00000368146.1	-	1	766	c.767G>C	c.(766-768)tGt>tCt	p.C256S	OR6K3_ENST00000368145.1_Missense_Mutation_p.C240S			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	256						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					GTGGCCTGCACAGGTAGAAAA	0.448																																							uc010pip.1		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(766-768)TGT>TCT		olfactory receptor, family 6, subfamily K,							117.0	101.0	106.0					1																	158687187		2203	4300	6503	SO:0001583	missense	391114				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158687187C>G	AB065633	CCDS30903.1, CCDS30903.2	1q23.1	2012-08-09			ENSG00000203757	ENSG00000203757		"""GPCR / Class A : Olfactory receptors"""	15030	protein-coding gene	gene with protein product							Standard	NM_001005327		Approved		uc021pbn.1	Q8NGY3	OTTHUMG00000022770	ENST00000368146.1:c.767G>C	1.37:g.158687187C>G	ENSP00000357128:p.Cys256Ser						p.C256S	NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN			1	767	-	all_hematologic(112;0.0378)		256			Helical; Name=6; (Potential).		Q5VUV0|Q6IFR5	Missense_Mutation	SNP	ENST00000368146.1	37	c.767G>C		.	.	.	.	.	.	.	.	.	.	C	23.7	4.452462	0.84209	.	.	ENSG00000203757	ENST00000368145;ENST00000368146	T;T	0.00369	7.74;7.74	3.77	2.86	0.33363	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00906	0.0030	H	0.98487	4.245	0.36780	D	0.884279	D	0.89917	1.0	D	0.97110	1.0	T	0.07731	-1.0757	9	0.87932	D	0	.	10.3267	0.43798	0.0:0.8989:0.0:0.1011	.	256	Q8NGY3	OR6K3_HUMAN	S	240;256	ENSP00000357127:C240S;ENSP00000357128:C256S	ENSP00000357127:C240S	C	-	2	0	OR6K3	156953811	1.000000	0.71417	0.460000	0.27093	0.898000	0.52572	5.547000	0.67249	0.907000	0.36646	0.467000	0.42956	TGT		0.448	OR6K3-201	KNOWN	basic	protein_coding	protein_coding				17	15	0	0	0	0.004007	0	17	15				
OR10J5	127385	broad.mit.edu	37	1	159505133	159505133	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:159505133G>T	ENST00000334857.2	-	1	709	c.665C>A	c.(664-666)tCt>tAt	p.S222Y		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					AAGGATGGAAGAGATGACAAG	0.443																																							uc010piw.1		NA																	0				skin(2)|ovary(1)	3						c.(664-666)TCT>TAT		olfactory receptor, family 10, subfamily J,							75.0	74.0	75.0					1																	159505133		2203	4300	6503	SO:0001583	missense	127385				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159505133G>T		CCDS30910.1	1q23.2	2012-08-09			ENSG00000184155	ENSG00000184155		"""GPCR / Class A : Olfactory receptors"""	14993	protein-coding gene	gene with protein product							Standard	NM_001004469		Approved		uc010piw.2	Q8NHC4	OTTHUMG00000022738	ENST00000334857.2:c.665C>A	1.37:g.159505133G>T	ENSP00000334441:p.Ser222Tyr						p.S222Y	NM_001004469	NP_001004469	Q8NHC4	O10J5_HUMAN			1	665	-	all_hematologic(112;0.0429)		222			Cytoplasmic (Potential).		B9EH35|Q6IFH2	Missense_Mutation	SNP	ENST00000334857.2	37	c.665C>A	CCDS30910.1	.	.	.	.	.	.	.	.	.	.	G	7.202	0.593624	0.13875	.	.	ENSG00000184155	ENST00000334857	T	0.36699	1.24	3.96	3.03	0.35002	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.28699	0.0711	L	0.60957	1.885	0.09310	N	1	D	0.76494	0.999	D	0.73380	0.98	T	0.06899	-1.0801	9	0.12430	T	0.62	.	4.8803	0.13676	0.1101:0.0:0.676:0.2139	.	222	Q8NHC4	O10J5_HUMAN	Y	222	ENSP00000334441:S222Y	ENSP00000334441:S222Y	S	-	2	0	OR10J5	157771757	0.000000	0.05858	0.010000	0.14722	0.036000	0.12997	0.316000	0.19469	0.957000	0.37930	0.467000	0.42956	TCT		0.443	OR10J5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059021.1	NM_001004469		29	23	1	0	1.1423e-28	0.009535	2.01495e-28	29	23				
SLAMF6	114836	broad.mit.edu	37	1	160461040	160461040	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:160461040G>A	ENST00000368057.3	-	3	581	c.521C>T	c.(520-522)tCa>tTa	p.S174L	SLAMF6_ENST00000368059.3_Missense_Mutation_p.S174L|SLAMF6_ENST00000368055.1_Missense_Mutation_p.S63L			Q96DU3	SLAF6_HUMAN	SLAM family member 6	174	Ig-like C2-type.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			TGGCTGACTTGAAAGTGTGTT	0.473																																							uc001fwe.1		NA																	0				ovary(1)|skin(1)	2						c.(520-522)TCA>TTA		activating NK receptor precursor							159.0	148.0	151.0					1																	160461040		2203	4300	6503	SO:0001583	missense	114836					integral to membrane|plasma membrane	receptor activity	g.chr1:160461040G>A	AL832854	CCDS1205.1, CCDS53393.1, CCDS53394.1	1q23.1	2013-01-29			ENSG00000162739	ENSG00000162739		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21392	protein-coding gene	gene with protein product		606446				11489943	Standard	NM_052931		Approved	KALI, NTBA, KALIb, Ly108, SF2000, NTB-A, CD352	uc001fwe.2	Q96DU3	OTTHUMG00000022729	ENST00000368057.3:c.521C>T	1.37:g.160461040G>A	ENSP00000357036:p.Ser174Leu					SLAMF6_uc001fwd.1_Missense_Mutation_p.S174L|SLAMF6_uc010pjh.1_Missense_Mutation_p.S125L|SLAMF6_uc010pji.1_Missense_Mutation_p.S63L|SLAMF6_uc010pjj.1_Missense_Mutation_p.S63L|SLAMF6_uc009wtm.1_Missense_Mutation_p.S125L	p.S174L	NM_052931	NP_443163	Q96DU3	SLAF6_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0923)		3	581	-	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		174			Extracellular (Potential).|Ig-like.		A6NMW2|B2R8X8|Q14CF0|Q5TAS4|Q5TAS6|Q5TAT3|Q96DV0	Missense_Mutation	SNP	ENST00000368057.3	37	c.521C>T	CCDS53394.1	.	.	.	.	.	.	.	.	.	.	G	0.192	-1.052383	0.01981	.	.	ENSG00000162739	ENST00000368059;ENST00000368057;ENST00000368055	T;T;T	0.27402	1.67;1.67;2.51	4.06	-8.12	0.01078	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.934580	0.00993	N	0.003557	T	0.01870	0.0059	N	0.02391	-0.57	0.09310	N	1	B;B;B;B;B;B	0.14012	0.002;0.0;0.007;0.007;0.009;0.009	B;B;B;B;B;B	0.06405	0.001;0.001;0.001;0.001;0.002;0.002	T	0.19976	-1.0289	10	0.09590	T	0.72	2.5221	0.6521	0.00828	0.1697:0.2461:0.1952:0.389	.	63;63;125;174;174;174	B7Z6A7;Q5TAS6;B4E1U5;Q96DU3-2;Q96DU3;B2R8X8	.;.;.;.;SLAF6_HUMAN;.	L	174;174;63	ENSP00000357038:S174L;ENSP00000357036:S174L;ENSP00000357034:S63L	ENSP00000357034:S63L	S	-	2	0	SLAMF6	158727664	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.132000	0.10467	-1.263000	0.02455	-2.275000	0.00273	TCA		0.473	SLAMF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059010.1	NM_052931		33	67	0	0	0	0.00874	0	33	67				
OLFML2B	25903	broad.mit.edu	37	1	161967956	161967956	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:161967956G>C	ENST00000294794.3	-	6	1556	c.1133C>G	c.(1132-1134)cCc>cGc	p.P378R	OLFML2B_ENST00000367940.2_Missense_Mutation_p.P379R	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	378					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TGAGGTCGAGGGCTGTGGCAG	0.627																																							uc001gbu.2		NA																	0				skin(1)	1						c.(1132-1134)CCC>CGC		olfactomedin-like 2B precursor							158.0	166.0	163.0					1																	161967956		2203	4300	6503	SO:0001583	missense	25903							g.chr1:161967956G>C	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.1133C>G	1.37:g.161967956G>C	ENSP00000294794:p.Pro378Arg					OLFML2B_uc010pkq.1_Missense_Mutation_p.P379R	p.P378R	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		6	1557	-	all_hematologic(112;0.156)		378					B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	ENST00000294794.3	37	c.1133C>G	CCDS1236.1	.	.	.	.	.	.	.	.	.	.	G	6.001	0.368610	0.11352	.	.	ENSG00000162745	ENST00000294794;ENST00000367940	D;D	0.86956	-2.19;-2.19	4.39	3.45	0.39498	.	.	.	.	.	T	0.65749	0.2721	L	0.27053	0.805	0.23776	N	0.996873	B;B	0.25521	0.028;0.128	B;B	0.15870	0.014;0.014	T	0.63359	-0.6655	8	0.66056	D	0.02	.	6.9299	0.24435	0.2047:0.0:0.7953:0.0	.	379;378	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	R	378;379	ENSP00000294794:P378R;ENSP00000356917:P379R	ENSP00000294794:P378R	P	-	2	0	OLFML2B	160234580	0.022000	0.18835	0.025000	0.17156	0.002000	0.02628	0.949000	0.29109	2.260000	0.74910	0.462000	0.41574	CCC		0.627	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		51	124	0	0	0	0.00361	0	51	124				
LMX1A	4009	broad.mit.edu	37	1	165175158	165175158	+	Missense_Mutation	SNP	G	G	C	rs186074862		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:165175158G>C	ENST00000342310.3	-	8	1313	c.931C>G	c.(931-933)Ccc>Gcc	p.P311A	LMX1A_ENST00000294816.2_Missense_Mutation_p.P311A|LMX1A_ENST00000367893.4_Missense_Mutation_p.P311A|LMX1A_ENST00000489443.2_5'UTR	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	311					axon guidance (GO:0007411)|central nervous system neuron differentiation (GO:0021953)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|dopaminergic neuron differentiation (GO:0071542)|midbrain development (GO:0030901)|negative regulation of neuron differentiation (GO:0045665)|regulation of cell growth (GO:0001558)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					TGTCGGAAGGGATCTGAGCTG	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		18787	0.0		0.001	False		,,,				2504	0.0						uc001gcy.1		NA																	0				central_nervous_system(3)|upper_aerodigestive_tract(1)|pancreas(1)	5						c.(931-933)CCC>GCC		LIM homeobox transcription factor 1, alpha							115.0	115.0	115.0					1																	165175158		2203	4300	6503	SO:0001583	missense	4009					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:165175158G>C	AY078391	CCDS1247.1	1q24.1	2011-06-20			ENSG00000162761	ENSG00000162761		"""Homeoboxes / LIM class"""	6653	protein-coding gene	gene with protein product		600298		LMX1		7698771	Standard	NM_177398		Approved	LMX1.1	uc001gcz.2	Q8TE12	OTTHUMG00000034575	ENST00000342310.3:c.931C>G	1.37:g.165175158G>C	ENSP00000340226:p.Pro311Ala					LMX1A_uc001gcz.1_Missense_Mutation_p.P311A|LMX1A_uc001gcw.1_Missense_Mutation_p.P29A|LMX1A_uc001gcx.1_Missense_Mutation_p.P62A	p.P311A	NM_177398	NP_796372	Q8TE12	LMX1A_HUMAN			7	1152	-	all_hematologic(923;0.248)		311					B3KXP6|Q0VDB5|Q5VWG4|Q8TE11	Missense_Mutation	SNP	ENST00000342310.3	37	c.931C>G	CCDS1247.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	15.92	2.974171	0.53720	.	.	ENSG00000162761	ENST00000342310;ENST00000294816;ENST00000367893	D;D;D	0.86694	-2.16;-2.16;-2.16	5.39	4.47	0.54385	.	0.052435	0.85682	D	0.000000	T	0.79299	0.4422	L	0.55990	1.75	0.48632	D	0.999681	D	0.54964	0.969	P	0.45167	0.472	T	0.82102	-0.0623	9	0.59425	D	0.04	.	9.0577	0.36416	0.0776:0.0:0.7738:0.1486	.	311	Q8TE12	LMX1A_HUMAN	A	311	ENSP00000340226:P311A;ENSP00000294816:P311A;ENSP00000356868:P311A	ENSP00000294816:P311A	P	-	1	0	LMX1A	163441782	1.000000	0.71417	0.987000	0.45799	0.993000	0.82548	6.108000	0.71522	2.528000	0.85240	0.591000	0.81541	CCC		0.587	LMX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083668.2	NM_177398		11	62	0	0	0	0.008291	0	11	62				
NME7	29922	broad.mit.edu	37	1	169292368	169292368	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:169292368T>A	ENST00000367811.3	-	3	521	c.265A>T	c.(265-267)Agt>Tgt	p.S89C	RP4-800F24.1_ENST00000432081.1_RNA|NME7_ENST00000472647.1_Missense_Mutation_p.S53C|NME7_ENST00000469474.1_5'UTR	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN	NME/NM23 family member 7	89	DM10. {ECO:0000255|PROSITE- ProRule:PRU00665}.				brain development (GO:0007420)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|CTP biosynthetic process (GO:0006241)|determination of left/right symmetry (GO:0007368)|epithelial cilium movement (GO:0003351)|GTP biosynthetic process (GO:0006183)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|UTP biosynthetic process (GO:0006228)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					TCTTTCCTACTGCCCAGCTGG	0.358																																							uc001gfu.2		NA																	0				central_nervous_system(1)	1						c.(265-267)AGT>TGT		nucleoside diphosphate kinase 7 isoform a							86.0	87.0	86.0					1																	169292368		2203	4300	6503	SO:0001583	missense	29922				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity	g.chr1:169292368T>A	AF153191	CCDS1277.1, CCDS44274.1	1q24.2	2014-07-31	2012-05-18		ENSG00000143156	ENSG00000143156			20461	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 67"""	613465	"""non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase)"""			19852809	Standard	NM_197972		Approved	FLJ37194, NM23-H7, CFAP67	uc001gfu.3	Q9Y5B8	OTTHUMG00000034586	ENST00000367811.3:c.265A>T	1.37:g.169292368T>A	ENSP00000356785:p.Ser89Cys					NME7_uc010plq.1_RNA|NME7_uc001gft.2_Missense_Mutation_p.S53C|NME7_uc001gfv.1_Missense_Mutation_p.S89C	p.S89C	NM_013330	NP_037462	Q9Y5B8	NDK7_HUMAN			3	503	-	all_hematologic(923;0.208)		89			DM10.		A8K3T6|A8MY09|B3KSW9|Q5TGZ4	Missense_Mutation	SNP	ENST00000367811.3	37	c.265A>T	CCDS1277.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.331392	0.81690	.	.	ENSG00000143156	ENST00000472647;ENST00000367811	T;T	0.57107	0.42;0.42	5.03	5.03	0.67393	Uncharacterised domain DM10 (2);	0.040035	0.85682	D	0.000000	T	0.66819	0.2828	M	0.82517	2.595	0.46901	D	0.999244	D;D	0.71674	0.998;0.986	D;P	0.67231	0.95;0.765	T	0.73579	-0.3938	9	0.56958	D	0.05	-24.2436	14.7438	0.69474	0.0:0.0:0.0:1.0	.	93;89	Q59GR0;Q9Y5B8	.;NDK7_HUMAN	C	53;89	ENSP00000433341:S53C;ENSP00000356785:S89C	ENSP00000356785:S89C	S	-	1	0	NME7	167558992	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.577000	0.67444	2.020000	0.59435	0.533000	0.62120	AGT		0.358	NME7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083688.1	NM_013330		27	24	0	0	0	0.009535	0	27	24				
F5	2153	broad.mit.edu	37	1	169529939	169529939	+	Missense_Mutation	SNP	C	C	T	rs118203912		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:169529939C>T	ENST00000367797.3	-	4	640	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K	F5_ENST00000546081.1_Missense_Mutation_p.E10K|F5_ENST00000367796.3_Missense_Mutation_p.E147K	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	147	F5/8 type A 1.|Plastocyanin-like 1.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)	p.E147K(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TAGGTGTATTCTCGGCCTGGA	0.517																																							uc001ggg.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	GRCh37	CM032567	F5	M	rs118203912	c.(439-441)GAA>AAA		coagulation factor V precursor	Drotrecogin alfa(DB00055)						185.0	156.0	166.0					1																	169529939		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169529939C>T	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.439G>A	1.37:g.169529939C>T	ENSP00000356771:p.Glu147Lys					F5_uc010plr.1_RNA	p.E147K	NM_000130	NP_000121	P12259	FA5_HUMAN			4	584	-	all_hematologic(923;0.208)		147			F5/8 type A 1.|Plastocyanin-like 1.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.439G>A	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.404046	0.42613	.	.	ENSG00000198734	ENST00000367797;ENST00000367796;ENST00000546081	D;D;D	0.98345	-4.88;-4.88;-4.88	5.39	3.36	0.38483	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.664601	0.15758	N	0.246068	D	0.91643	0.7359	L	0.31578	0.945	0.36917	D	0.891173	P	0.37708	0.606	B	0.37198	0.243	D	0.87576	0.2481	9	0.29301	T	0.29	-22.9765	6.1143	0.20117	0.0:0.5369:0.2609:0.2022	.	147	P12259	FA5_HUMAN	K	147;147;10	ENSP00000356771:E147K;ENSP00000356770:E147K;ENSP00000439664:E10K	ENSP00000356770:E147K	E	-	1	0	F5	167796563	0.252000	0.23972	0.323000	0.25347	0.525000	0.34531	1.257000	0.32932	2.508000	0.84585	0.585000	0.79938	GAA		0.517	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		33	103	0	0	0	0.007835	0	33	103				
MROH9	80133	broad.mit.edu	37	1	170964581	170964581	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:170964581G>T	ENST00000367758.3	+	13	1345	c.1246G>T	c.(1246-1248)Gtg>Ttg	p.V416L	MROH9_ENST00000367759.4_Missense_Mutation_p.V416L	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	416																	CAGGAAAGCGGTGGCCCAGTA	0.463																																							uc001ghg.2		NA																	0				pancreas(1)	1						c.(1246-1248)GTG>TTG		hypothetical protein LOC80133 isoform 2							107.0	103.0	104.0					1																	170964581		1915	4116	6031	SO:0001583	missense	80133						binding	g.chr1:170964581G>T	AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"""maestro heat-like repeat containing"""	26287	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 129"""	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.1246G>T	1.37:g.170964581G>T	ENSP00000356732:p.Val416Leu					C1orf129_uc009wvy.2_Missense_Mutation_p.V223L|C1orf129_uc010plz.1_Missense_Mutation_p.V416L	p.V416L	NM_025063	NP_079339	Q5TGP6	CA129_HUMAN			13	1376	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		416					A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Missense_Mutation	SNP	ENST00000367758.3	37	c.1246G>T	CCDS41436.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.70|13.70	2.316753|2.316753	0.40996|0.40996	.|.	.|.	ENSG00000117501|ENSG00000117501	ENST00000426136|ENST00000367759;ENST00000367758	.|T;T	.|0.63417	.|-0.04;1.55	5.57|5.57	3.69|3.69	0.42338|0.42338	.|.	.|0.404235	.|0.21291	.|N	.|0.076968	T|T	0.51805|0.51805	0.1696|0.1696	M|M	0.67953|0.67953	2.075|2.075	0.22226|0.22226	N|N	0.999279|0.999279	.|D;D	.|0.60575	.|0.988;0.976	.|P;P	.|0.50405	.|0.64;0.64	T|T	0.46693|0.46693	-0.9173|-0.9173	5|10	.|0.59425	.|D	.|0.04	-14.2809|-14.2809	8.7529|8.7529	0.34629|0.34629	0.1778:0.0:0.8222:0.0|0.1778:0.0:0.8222:0.0	.|.	.|416;416	.|F5GWX6;Q5TGP6	.|.;CA129_HUMAN	V|L	22|416	.|ENSP00000356733:V416L;ENSP00000356732:V416L	.|ENSP00000356732:V416L	G|V	+|+	2|1	0|0	C1orf129|C1orf129	169231205|169231205	0.987000|0.987000	0.35691|0.35691	0.743000|0.743000	0.31040|0.31040	0.056000|0.056000	0.15407|0.15407	2.116000|2.116000	0.41930|0.41930	1.366000|1.366000	0.46076|0.46076	0.643000|0.643000	0.83706|0.83706	GGT|GTG		0.463	MROH9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000099327.1	NM_025063		47	31	1	0	2.14674e-31	0.00361	3.82758e-31	47	31				
PRDX6	9588	broad.mit.edu	37	1	173455480	173455480	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:173455480G>T	ENST00000340385.5	+	4	618	c.486G>T	c.(484-486)agG>agT	p.R162S	PRDX6_ENST00000470017.1_3'UTR	NM_004905.2	NP_004896.1	P30041	PRDX6_HUMAN	peroxiredoxin 6	162	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				hydrogen peroxide catabolic process (GO:0042744)|phospholipid catabolic process (GO:0009395)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|membrane (GO:0016020)	antioxidant activity (GO:0016209)|glutathione peroxidase activity (GO:0004602)|peroxiredoxin activity (GO:0051920)|phospholipase A2 activity (GO:0004623)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	12						AGATTCTCAGGGTAGTCATCT	0.443																																							uc001giy.1		NA																	0				central_nervous_system(1)	1						c.(484-486)AGG>AGT		peroxiredoxin 6							152.0	159.0	157.0					1																	173455480		2203	4300	6503	SO:0001583	missense	9588				cell redox homeostasis|phospholipid catabolic process	cytoplasmic membrane-bounded vesicle|cytosol|lysosome	peroxiredoxin activity|phospholipase A2 activity|protein binding	g.chr1:173455480G>T	D14662	CCDS1307.1	1q24.1	2008-02-05			ENSG00000117592	ENSG00000117592			16753	protein-coding gene	gene with protein product		602316				11233154	Standard	NM_004905		Approved	AOP2, KIAA0106, 1-Cys, NSGPx, PRX, aiPLA2, MGC46173, p29	uc001giy.1	P30041	OTTHUMG00000034804	ENST00000340385.5:c.486G>T	1.37:g.173455480G>T	ENSP00000342026:p.Arg162Ser						p.R162S	NM_004905	NP_004896	P30041	PRDX6_HUMAN			4	537	+			162			Thioredoxin.		A8JZY7|P32077|Q5TAH4|Q5ZEZ8	Missense_Mutation	SNP	ENST00000340385.5	37	c.486G>T	CCDS1307.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.675062	0.67928	.	.	ENSG00000117592	ENST00000340385	T	0.17691	2.26	5.63	1.94	0.25998	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.51500	0.1678	H	0.99903	4.92	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.64360	-0.6426	10	0.87932	D	0	-15.7594	9.3889	0.38361	0.8004:0.0:0.1996:0.0	.	162	P30041	PRDX6_HUMAN	S	162	ENSP00000342026:R162S	ENSP00000342026:R162S	R	+	3	2	PRDX6	171722103	0.997000	0.39634	0.986000	0.45419	0.948000	0.59901	0.655000	0.24933	0.146000	0.19002	-0.982000	0.02568	AGG		0.443	PRDX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084222.1	NM_004905		90	75	1	0	1.07597e-44	0.00361	1.98507e-44	90	75				
RABGAP1L	9910	broad.mit.edu	37	1	174190250	174190250	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:174190250C>T	ENST00000251507.4	+	3	453	c.279C>T	c.(277-279)gcC>gcT	p.A93A	RABGAP1L_ENST00000357444.6_Silent_p.A56A|RABGAP1L_ENST00000367689.3_5'UTR	NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	0										NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						ATATTCCAGCCAGCCAAACAA	0.368																																							uc001gjx.2		NA																	0				ovary(2)|lung(1)|kidney(1)	4						c.(277-279)GCC>GCT		RAB GTPase activating protein 1-like isoform A							167.0	164.0	165.0					1																	174190250		2203	4300	6503	SO:0001819	synonymous_variant	9910				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity	g.chr1:174190250C>T	AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000251507.4:c.279C>T	1.37:g.174190250C>T						RABGAP1L_uc009wwq.1_Silent_p.A93A|RABGAP1L_uc001gjw.2_Silent_p.A56A	p.A93A	NM_014857	NP_055672	Q5R372	RBG1L_HUMAN			3	474	+			93					B7ZAA4	Silent	SNP	ENST00000251507.4	37	c.279C>T	CCDS1314.1																																																																																				0.368	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084497.1	NM_001243765		57	62	0	0	0	0.00361	0	57	62				
RFWD2	64326	broad.mit.edu	37	1	176175712	176175712	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:176175712C>G	ENST00000367669.3	-	1	917	c.403G>C	c.(403-405)Gta>Cta	p.V135L	RP11-195C7.1_ENST00000456125.1_RNA|RFWD2_ENST00000308769.8_Missense_Mutation_p.V135L	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	135					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin protein ligase activity (GO:0061630)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						ACCCACCATACGAAGTCGTTG	0.597																																					Ovarian(134;1413 1765 5706 35534 51541)	Ovarian(134;1413 1765 5706 35534 51541)	uc001gku.1		NA																	0					0						c.(403-405)GTA>CTA		ring finger and WD repeat domain 2 isoform a							42.0	41.0	41.0					1																	176175712		2199	4287	6486	SO:0001583	missense	64326				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:176175712C>G	AK001278	CCDS30944.1, CCDS44279.1	1q25.1-q25.2	2013-01-09	2012-02-23		ENSG00000143207	ENSG00000143207		"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	17440	protein-coding gene	gene with protein product		608067	"""ring finger and WD repeat domain 2"""			10395541	Standard	XM_005245447		Approved	FLJ10416, COP1, RNF200	uc001gku.1	Q8NHY2	OTTHUMG00000034986	ENST00000367669.3:c.403G>C	1.37:g.176175712C>G	ENSP00000356641:p.Val135Leu					RFWD2_uc001gkv.1_Missense_Mutation_p.V135L|RFWD2_uc001gkw.1_5'UTR	p.V135L	NM_022457	NP_071902	Q8NHY2	RFWD2_HUMAN			1	659	-			135					E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	Missense_Mutation	SNP	ENST00000367669.3	37	c.403G>C	CCDS30944.1	.	.	.	.	.	.	.	.	.	.	C	8.301	0.819848	0.16678	.	.	ENSG00000143207	ENST00000367669;ENST00000308769;ENST00000436424	T;T	0.15718	2.4;2.4	3.68	3.68	0.42216	Zinc finger, RING/FYVE/PHD-type (1);	0.075639	0.52532	D	0.000063	T	0.16769	0.0403	N	0.05031	-0.125	0.58432	D	0.999998	B;P	0.48294	0.015;0.908	B;D	0.69479	0.009;0.964	T	0.02983	-1.1086	10	0.02654	T	1	.	14.6902	0.69080	0.0:1.0:0.0:0.0	.	135;135	Q8NHY2-2;Q8NHY2	.;RFWD2_HUMAN	L	135	ENSP00000356641:V135L;ENSP00000310943:V135L	ENSP00000310943:V135L	V	-	1	0	RFWD2	174442335	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	5.781000	0.68964	2.040000	0.60383	0.455000	0.32223	GTA		0.597	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084672.2	NM_022457		10	57	0	0	0	0.003163	0	10	57				
ASTN1	460	broad.mit.edu	37	1	176934321	176934321	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:176934321G>T	ENST00000367654.3	-	9	1811	c.1600C>A	c.(1600-1602)Cag>Aag	p.Q534K	ASTN1_ENST00000361833.2_Missense_Mutation_p.Q526K|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.Q526K|ASTN1_ENST00000367657.3_Missense_Mutation_p.Q526K	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	534					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCAGAGGGCTGCTCTCCCAAA	0.418																																							uc001glc.2		NA																	0				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(1576-1578)CAG>AAG		astrotactin isoform 1							132.0	137.0	136.0					1																	176934321		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176934321G>T	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.1600C>A	1.37:g.176934321G>T	ENSP00000356626:p.Gln534Lys					ASTN1_uc001glb.1_Missense_Mutation_p.Q526K|ASTN1_uc001gld.1_Missense_Mutation_p.Q526K|ASTN1_uc009wwx.1_Missense_Mutation_p.Q526K	p.Q526K	NM_004319	NP_004310	O14525	ASTN1_HUMAN			9	1788	-			534					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.1576C>A		.	.	.	.	.	.	.	.	.	.	G	19.49	3.838322	0.71373	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.20738	2.05;2.46;2.46;2.05	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.35711	0.0941	L	0.29908	0.895	0.80722	D	1	P;P;P	0.43578	0.811;0.811;0.811	P;P;P	0.60789	0.879;0.879;0.828	T	0.11941	-1.0567	10	0.87932	D	0	-9.8281	18.4965	0.90866	0.0:0.0:1.0:0.0	.	534;526;526	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	K	526;526;534;526;526	ENSP00000356629:Q526K;ENSP00000354536:Q526K;ENSP00000356626:Q534K;ENSP00000395041:Q526K	ENSP00000354536:Q526K	Q	-	1	0	ASTN1	175200944	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.879000	0.92398	2.517000	0.84864	0.555000	0.69702	CAG		0.418	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		37	32	1	0	2.51966e-14	0.00361	3.83494e-14	37	32				
ASTN1	460	broad.mit.edu	37	1	177001626	177001626	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:177001626G>T	ENST00000367654.3	-	3	1042	c.831C>A	c.(829-831)ggC>ggA	p.G277G	ASTN1_ENST00000361833.2_Silent_p.G277G|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Silent_p.G277G|ASTN1_ENST00000367657.3_Silent_p.G277G	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	277					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TTTCATTGCAGCCCTGCAGGG	0.597																																							uc001glc.2		NA																	0				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(829-831)GGC>GGA		astrotactin isoform 1							116.0	111.0	112.0					1																	177001626		2203	4300	6503	SO:0001819	synonymous_variant	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:177001626G>T	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.831C>A	1.37:g.177001626G>T						ASTN1_uc001glb.1_Silent_p.G277G|ASTN1_uc001gld.1_Silent_p.G277G|ASTN1_uc009wwx.1_Silent_p.G277G|ASTN1_uc001gle.3_RNA	p.G277G	NM_004319	NP_004310	O14525	ASTN1_HUMAN			3	1043	-			277					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	ENST00000367654.3	37	c.831C>A																																																																																					0.597	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		88	53	1	0	4.04957e-52	0.00361	7.55548e-52	88	53				
BRINP2	57795	broad.mit.edu	37	1	177249868	177249868	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:177249868A>C	ENST00000361539.4	+	8	1868	c.1556A>C	c.(1555-1557)cAg>cCg	p.Q519P	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	519					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)											TACCTGCTGCAGAAGCAGGAT	0.587																																							uc001glf.2		NA																	0				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(1555-1557)CAG>CCG		family with sequence similarity 5, member B							38.0	36.0	37.0					1																	177249868		2203	4300	6503	SO:0001583	missense	57795					extracellular region		g.chr1:177249868A>C		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.1556A>C	1.37:g.177249868A>C	ENSP00000354481:p.Gln519Pro					FAM5B_uc001glg.2_Missense_Mutation_p.Q414P	p.Q519P	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN			8	1868	+			519					O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	c.1556A>C	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	A	15.42	2.827830	0.50845	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.53423	0.62	5.36	4.22	0.49857	.	0.059160	0.64402	D	0.000002	T	0.64724	0.2624	M	0.68317	2.08	0.58432	D	0.999999	D;P	0.76494	0.999;0.91	D;B	0.85130	0.997;0.328	T	0.65919	-0.6051	10	0.66056	D	0.02	-13.6686	11.4118	0.49929	0.8645:0.0:0.0:0.1355	.	414;519	Q9C0B6-2;Q9C0B6	.;FAM5B_HUMAN	P	272;519	ENSP00000354481:Q519P	ENSP00000354481:Q519P	Q	+	2	0	FAM5B	175516491	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	5.998000	0.70653	0.858000	0.35431	0.260000	0.18958	CAG		0.587	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		18	16	0	0	0	0.008871	0	18	16				
ABL2	27	broad.mit.edu	37	1	179084056	179084056	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:179084056C>A	ENST00000502732.1	-	9	1721	c.1518G>T	c.(1516-1518)caG>caT	p.Q506H	ABL2_ENST00000511413.1_Missense_Mutation_p.Q506H|ABL2_ENST00000507173.1_Missense_Mutation_p.Q485H|ABL2_ENST00000512653.1_Missense_Mutation_p.Q491H|ABL2_ENST00000504405.1_Missense_Mutation_p.Q470H|ABL2_ENST00000367623.4_Missense_Mutation_p.Q485H|ABL2_ENST00000408940.3_Missense_Mutation_p.Q470H|ABL2_ENST00000344730.3_Missense_Mutation_p.Q491H|ABL2_ENST00000392043.3_Missense_Mutation_p.Q485H	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	506	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	ATCCCTCAGGCTGTTCCATTC	0.398			T	ETV6	AML																																		uc001gmj.3		NA		Dom	yes		1	1q24-q25	27	T	v-abl Abelson murine leukemia viral oncogene homolog 2			L	ETV6		AML		0				lung(8)|breast(3)|ovary(2)|central_nervous_system(1)	14						c.(1516-1518)CAG>CAT		arg tyrosine kinase isoform b	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)						119.0	121.0	120.0					1																	179084056		2203	4300	6503	SO:0001583	missense	27				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr1:179084056C>A	M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"""SH2 domain containing"""	77	protein-coding gene	gene with protein product	"""Abelson-related gene"""	164690	"""v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)"", ""v-abl Abelson murine leukemia viral oncogene homolog 2"", ""c-abl oncogene 2, non-receptor tyrosine kinase"""	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.1518G>T	1.37:g.179084056C>A	ENSP00000427562:p.Gln506His					ABL2_uc010pnf.1_Missense_Mutation_p.Q506H|ABL2_uc010png.1_Missense_Mutation_p.Q485H|ABL2_uc010pnh.1_Missense_Mutation_p.Q485H|ABL2_uc009wxe.2_Missense_Mutation_p.Q485H|ABL2_uc001gmg.3_Missense_Mutation_p.Q491H|ABL2_uc001gmi.3_Missense_Mutation_p.Q491H|ABL2_uc001gmh.3_Missense_Mutation_p.Q470H|ABL2_uc010pne.1_Missense_Mutation_p.Q470H	p.Q506H	NM_007314	NP_009298	P42684	ABL2_HUMAN			9	1805	-			506			Protein kinase.		A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Missense_Mutation	SNP	ENST00000502732.1	37	c.1518G>T	CCDS30947.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.446884	0.63178	.	.	ENSG00000143322	ENST00000502732;ENST00000408940;ENST00000344730;ENST00000512653;ENST00000504405;ENST00000367623;ENST00000507173;ENST00000511413;ENST00000392043	D;D;D;D;D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	5.99	-3.23	0.05109	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.49305	D	0.000144	D	0.86112	0.5855	L	0.56340	1.77	0.80722	D	1	D;B;B;B;B;B;D;B;B	0.76494	0.999;0.05;0.05;0.05;0.001;0.123;0.998;0.123;0.05	D;B;B;B;B;B;P;B;B	0.80764	0.994;0.038;0.038;0.038;0.0;0.103;0.88;0.103;0.038	T	0.83058	-0.0149	10	0.49607	T	0.09	.	13.5207	0.61566	0.0:0.4399:0.0:0.5601	.	485;485;506;470;485;506;491;470;491	P42684-6;P42684-7;P42684-5;P42684-4;P42684-8;P42684;P42684-3;D1MPS6;P42684-10	.;.;.;.;.;ABL2_HUMAN;.;.;.	H	506;470;491;491;470;485;485;506;485	ENSP00000427562:Q506H;ENSP00000386152:Q470H;ENSP00000339209:Q491H;ENSP00000423578:Q491H;ENSP00000426831:Q470H;ENSP00000356595:Q485H;ENSP00000423413:Q485H;ENSP00000424697:Q506H;ENSP00000375897:Q485H	ENSP00000339209:Q491H	Q	-	3	2	ABL2	177350679	0.003000	0.15002	0.911000	0.35937	0.990000	0.78478	-1.177000	0.03096	-0.978000	0.03533	-0.218000	0.12543	CAG		0.398	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158		52	32	1	0	4.17463e-26	0.00361	7.30314e-26	52	32				
ZNF648	127665	broad.mit.edu	37	1	182026681	182026681	+	Silent	SNP	T	T	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:182026681T>G	ENST00000339948.3	-	2	672	c.465A>C	c.(463-465)gcA>gcC	p.A155A		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	155					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(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						CGTCCTGGTTTGCCCCCGAGT	0.552																																					NSCLC(71;908 1374 5429 20458 35642)	NSCLC(71;908 1374 5429 20458 35642)	uc001goz.2		NA																	0				ovary(1)	1						c.(463-465)GCA>GCC		zinc finger protein 648							78.0	75.0	76.0					1																	182026681		2203	4300	6503	SO:0001819	synonymous_variant	127665				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:182026681T>G	AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"""Zinc fingers, C2H2-type"""	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.465A>C	1.37:g.182026681T>G							p.A155A	NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN			2	673	-			155					B2RP16	Silent	SNP	ENST00000339948.3	37	c.465A>C	CCDS30952.1																																																																																				0.552	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090794.1	XM_060597		19	28	0	0	0	0.008871	0	19	28				
HMCN1	83872	broad.mit.edu	37	1	185984364	185984364	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:185984364A>T	ENST00000271588.4	+	31	4933	c.4704A>T	c.(4702-4704)gaA>gaT	p.E1568D	HMCN1_ENST00000367492.2_Missense_Mutation_p.E1568D	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1568	Ig-like C2-type 13.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTAAACTGGAATGTGAAACAC	0.398																																							uc001grq.1		NA																	0				ovary(22)|skin(1)	23						c.(4702-4704)GAA>GAT		hemicentin 1 precursor							106.0	95.0	99.0					1																	185984364		2203	4299	6502	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185984364A>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.4704A>T	1.37:g.185984364A>T	ENSP00000271588:p.Glu1568Asp						p.E1568D	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			31	4933	+			1568			Ig-like C2-type 13.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.4704A>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	12.30	1.896154	0.33442	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.68479	-0.33;-0.33	5.35	0.169	0.15017	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.047123	0.85682	D	0.000000	T	0.69351	0.3101	L	0.49256	1.55	0.46396	D	0.999022	D	0.69078	0.997	D	0.80764	0.994	T	0.63431	-0.6639	10	0.26408	T	0.33	.	6.0762	0.19917	0.6028:0.0:0.2874:0.1098	.	1568	Q96RW7	HMCN1_HUMAN	D	1568	ENSP00000271588:E1568D;ENSP00000356462:E1568D	ENSP00000271588:E1568D	E	+	3	2	HMCN1	184250987	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	0.782000	0.26788	0.067000	0.16545	0.528000	0.53228	GAA		0.398	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		36	24	0	0	0	0.00623	0	36	24				
B3GALT2	8707	broad.mit.edu	37	1	193149690	193149690	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:193149690G>T	ENST00000367434.4	-	2	1758	c.1003C>A	c.(1003-1005)Cgc>Agc	p.R335S	CDC73_ENST00000367435.3_Intron	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2	335					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						TGCAAACGGCGGATACCTAAA	0.433																																							uc001gtc.3		NA																	0				ovary(1)	1						c.(1003-1005)CGC>AGC		UDP-Gal:betaGlcNAc beta							67.0	67.0	67.0					1																	193149690		2203	4300	6503	SO:0001583	missense	8707				protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr1:193149690G>T	Y15060	CCDS1383.1	1q31	2013-02-19			ENSG00000162630	ENSG00000162630		"""Beta 3-glycosyltransferases"""	917	protein-coding gene	gene with protein product		603018				9582303, 9417100	Standard	NM_003783		Approved	beta3Gal-T2	uc001gtc.4	O43825	OTTHUMG00000035687	ENST00000367434.4:c.1003C>A	1.37:g.193149690G>T	ENSP00000356404:p.Arg335Ser					CDC73_uc001gtb.2_Intron	p.R335S	NM_003783	NP_003774	O43825	B3GT2_HUMAN			2	1718	-			335			Lumenal (Potential).		B2RAB1|Q9BZQ9	Missense_Mutation	SNP	ENST00000367434.4	37	c.1003C>A	CCDS1383.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.292684	0.59976	.	.	ENSG00000162630	ENST00000367434	T	0.42900	0.96	5.42	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.49236	0.1545	L	0.42245	1.32	0.80722	D	1	D	0.57899	0.981	D	0.67103	0.949	T	0.25950	-1.0117	10	0.14656	T	0.56	.	10.8982	0.47036	0.0:0.0:0.5798:0.4202	.	335	O43825	B3GT2_HUMAN	S	335	ENSP00000356404:R335S	ENSP00000356404:R335S	R	-	1	0	B3GALT2	191416313	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.881000	0.69706	2.529000	0.85273	0.650000	0.86243	CGC		0.433	B3GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086759.1	NM_003783		18	12	1	0	2.39187e-15	0.008871	3.71838e-15	18	12				
CFH	3075	broad.mit.edu	37	1	196706718	196706718	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:196706718G>A	ENST00000367429.4	+	17	2950	c.2710G>A	c.(2710-2712)Ggt>Agt	p.G904S		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	904	Sushi 15. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TTGTGAGGGTGGTTTCAGGAT	0.393																																							uc001gtj.3		NA																	0				skin(4)|ovary(1)|breast(1)	6						c.(2710-2712)GGT>AGT		complement factor H isoform a precursor							88.0	82.0	84.0					1																	196706718		2203	4300	6503	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196706718G>A	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.2710G>A	1.37:g.196706718G>A	ENSP00000356399:p.Gly904Ser						p.G904S	NM_000186	NP_000177	P08603	CFAH_HUMAN			17	2950	+			904			Sushi 15.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000367429.4	37	c.2710G>A	CCDS1385.1	.	.	.	.	.	.	.	.	.	.	.	11.52	1.662944	0.29515	.	.	ENSG00000000971	ENST00000367429	T	0.76448	-1.02	6.04	5.13	0.70059	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	D	0.87912	0.6297	M	0.85197	2.74	0.80722	D	1	D	0.76494	0.999	D	0.68192	0.956	D	0.89427	0.3714	9	0.72032	D	0.01	.	12.3447	0.55114	0.0779:0.0:0.9221:0.0	.	904	P08603	CFAH_HUMAN	S	904	ENSP00000356399:G904S	ENSP00000356399:G904S	G	+	1	0	CFH	194973341	0.998000	0.40836	0.893000	0.35052	0.016000	0.09150	3.408000	0.52651	1.579000	0.49836	-0.142000	0.14014	GGT		0.393	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		8	70	0	0	0	0.004482	0	8	70				
ASPM	259266	broad.mit.edu	37	1	197071204	197071204	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:197071204C>A	ENST00000367409.4	-	18	7433	c.7177G>T	c.(7177-7179)Gct>Tct	p.A2393S	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2393	IQ 24. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTGAATGCAGCCTGAAGGATC	0.448																																							uc001gtu.2		NA																	0				ovary(4)|central_nervous_system(2)	6						c.(7177-7179)GCT>TCT		asp (abnormal spindle)-like, microcephaly							174.0	173.0	174.0					1																	197071204		2203	4299	6502	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197071204C>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.7177G>T	1.37:g.197071204C>A	ENSP00000356379:p.Ala2393Ser					ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Missense_Mutation_p.A241S	p.A2393S	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			18	7434	-			2393			IQ 24.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.7177G>T	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	c	16.83	3.231768	0.58777	.	.	ENSG00000066279	ENST00000367409;ENST00000367406	T	0.27557	1.66	4.45	2.49	0.30216	.	0.000000	0.64402	D	0.000017	T	0.46502	0.1396	L	0.53249	1.67	0.80722	D	1	D;D	0.89917	0.962;1.0	D;D	0.91635	0.982;0.999	T	0.22626	-1.0211	10	0.25751	T	0.34	.	12.8834	0.58030	0.2963:0.7037:0.0:0.0	.	379;2393	E7EQ84;Q8IZT6	.;ASPM_HUMAN	S	2393;379	ENSP00000356379:A2393S	ENSP00000356376:A379S	A	-	1	0	ASPM	195337827	0.997000	0.39634	0.996000	0.52242	0.916000	0.54674	1.361000	0.34136	0.553000	0.29044	0.558000	0.71614	GCT		0.448	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		85	156	1	0	3.21569e-47	0.00361	5.94003e-47	85	156				
KIF14	9928	broad.mit.edu	37	1	200534316	200534316	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:200534316C>T	ENST00000367350.4	-	25	4390	c.3952G>A	c.(3952-3954)Gta>Ata	p.V1318I		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1318	Required for CIT-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						ATTAGCACTACTAGCTGCTCA	0.383																																							uc010ppk.1		NA																	0				breast(3)|ovary(2)|skin(2)	7						c.(3952-3954)GTA>ATA		kinesin family member 14							122.0	116.0	118.0					1																	200534316		2203	4300	6503	SO:0001583	missense	9928				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding	g.chr1:200534316C>T	D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.3952G>A	1.37:g.200534316C>T	ENSP00000356319:p.Val1318Ile					KIF14_uc010ppj.1_Missense_Mutation_p.V827I	p.V1318I	NM_014875	NP_055690	Q15058	KIF14_HUMAN			25	4391	-			1318			Required for CIT-binding.		Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	ENST00000367350.4	37	c.3952G>A	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.896181	0.33442	.	.	ENSG00000118193	ENST00000367350	T	0.77489	-1.1	5.3	3.36	0.38483	.	0.225469	0.36338	N	0.002652	T	0.70919	0.3279	M	0.66939	2.045	0.09310	N	0.999994	B	0.24721	0.11	B	0.21917	0.037	T	0.58059	-0.7703	10	0.29301	T	0.29	.	7.1817	0.25776	0.1393:0.7139:0.0:0.1468	.	1318	Q15058	KIF14_HUMAN	I	1318	ENSP00000356319:V1318I	ENSP00000356319:V1318I	V	-	1	0	KIF14	198800939	0.207000	0.23482	0.020000	0.16555	0.546000	0.35178	2.054000	0.41335	0.570000	0.29347	0.591000	0.81541	GTA		0.383	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875		72	142	0	0	0	0.00361	0	72	142				
GPR25	2848	broad.mit.edu	37	1	200842745	200842745	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:200842745G>C	ENST00000304244.2	+	1	663	c.580G>C	c.(580-582)Gag>Cag	p.E194Q		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	194					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						GTGCGGCGAGGAGCCCTCCCA	0.716																																							uc001gvn.1		NA																	0				ovary(1)	1						c.(580-582)GAG>CAG		G protein-coupled receptor 25							8.0	9.0	9.0					1																	200842745		2084	4099	6183	SO:0001583	missense	2848					integral to plasma membrane		g.chr1:200842745G>C	U91939	CCDS1405.1	1q32.1	2012-08-21			ENSG00000170128	ENSG00000170128		"""GPCR / Class A : Orphans"""	4480	protein-coding gene	gene with protein product		602174				9020062	Standard	NM_005298		Approved		uc001gvn.2	O00155	OTTHUMG00000035788	ENST00000304244.2:c.580G>C	1.37:g.200842745G>C	ENSP00000301917:p.Glu194Gln						p.E194Q	NM_005298	NP_005289	O00155	GPR25_HUMAN			1	580	+			194			Extracellular (Potential).		A0AVJ5	Missense_Mutation	SNP	ENST00000304244.2	37	c.580G>C	CCDS1405.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.164992	0.38217	.	.	ENSG00000170128	ENST00000304244	T	0.36878	1.23	3.59	3.59	0.41128	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31221	U	0.008027	T	0.29321	0.0730	N	0.21448	0.665	0.09310	N	1	B	0.30526	0.283	B	0.36608	0.229	T	0.30387	-0.9980	10	0.46703	T	0.11	.	13.9363	0.64027	0.0:0.0:1.0:0.0	.	194	O00155	GPR25_HUMAN	Q	194	ENSP00000301917:E194Q	ENSP00000301917:E194Q	E	+	1	0	GPR25	199109368	0.055000	0.20627	0.984000	0.44739	0.708000	0.40852	2.350000	0.44063	1.528000	0.49103	0.462000	0.41574	GAG		0.716	GPR25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087056.1	NM_005298		2	12	0	0	0	0.004672	0	2	12				
GPR25	2848	broad.mit.edu	37	1	200842866	200842866	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:200842866A>T	ENST00000304244.2	+	1	784	c.701A>T	c.(700-702)cAc>cTc	p.H234L		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	234					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						CGGCCGCCGCACGTGGGTCGG	0.687																																							uc001gvn.1		NA																	0				ovary(1)	1						c.(700-702)CAC>CTC		G protein-coupled receptor 25							26.0	31.0	29.0					1																	200842866		2183	4274	6457	SO:0001583	missense	2848					integral to plasma membrane		g.chr1:200842866A>T	U91939	CCDS1405.1	1q32.1	2012-08-21			ENSG00000170128	ENSG00000170128		"""GPCR / Class A : Orphans"""	4480	protein-coding gene	gene with protein product		602174				9020062	Standard	NM_005298		Approved		uc001gvn.2	O00155	OTTHUMG00000035788	ENST00000304244.2:c.701A>T	1.37:g.200842866A>T	ENSP00000301917:p.His234Leu						p.H234L	NM_005298	NP_005289	O00155	GPR25_HUMAN			1	701	+			234			Cytoplasmic (Potential).		A0AVJ5	Missense_Mutation	SNP	ENST00000304244.2	37	c.701A>T	CCDS1405.1	.	.	.	.	.	.	.	.	.	.	A	12.62	1.991568	0.35131	.	.	ENSG00000170128	ENST00000304244	T	0.71103	-0.54	4.52	0.925	0.19424	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.52821	0.1758	N	0.11427	0.14	0.09310	N	1	B	0.22480	0.07	B	0.34991	0.193	T	0.49934	-0.8886	9	0.40728	T	0.16	-11.002	7.4098	0.27011	0.6009:0.0:0.3991:0.0	.	234	O00155	GPR25_HUMAN	L	234	ENSP00000301917:H234L	ENSP00000301917:H234L	H	+	2	0	GPR25	199109489	0.015000	0.18098	0.984000	0.44739	0.867000	0.49689	0.969000	0.29370	0.143000	0.18926	0.379000	0.24179	CAC		0.687	GPR25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087056.1	NM_005298		20	62	0	0	0	0.00632	0	20	62				
GPR25	2848	broad.mit.edu	37	1	200842882	200842882	+	Silent	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:200842882G>C	ENST00000304244.2	+	1	800	c.717G>C	c.(715-717)cgG>cgC	p.R239R		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	239					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						GTCGGGCCCGGAGGAACTCGC	0.692																																							uc001gvn.1		NA																	0				ovary(1)	1						c.(715-717)CGG>CGC		G protein-coupled receptor 25							29.0	34.0	32.0					1																	200842882		2198	4293	6491	SO:0001819	synonymous_variant	2848					integral to plasma membrane		g.chr1:200842882G>C	U91939	CCDS1405.1	1q32.1	2012-08-21			ENSG00000170128	ENSG00000170128		"""GPCR / Class A : Orphans"""	4480	protein-coding gene	gene with protein product		602174				9020062	Standard	NM_005298		Approved		uc001gvn.2	O00155	OTTHUMG00000035788	ENST00000304244.2:c.717G>C	1.37:g.200842882G>C							p.R239R	NM_005298	NP_005289	O00155	GPR25_HUMAN			1	717	+			239			Cytoplasmic (Potential).		A0AVJ5	Silent	SNP	ENST00000304244.2	37	c.717G>C	CCDS1405.1																																																																																				0.692	GPR25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087056.1	NM_005298		21	61	0	0	0	0.007291	0	21	61				
IGFN1	91156	broad.mit.edu	37	1	201185763	201185763	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:201185763C>A	ENST00000335211.4	+	16	9607	c.9477C>A	c.(9475-9477)acC>acA	p.T3159T	IGFN1_ENST00000295591.8_Silent_p.T319T	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	702						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTGACAGCACCACCTTCACGG	0.652																																							uc001gwc.2		NA																	0				ovary(2)|pancreas(1)	3						c.(955-957)ACC>ACA		RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1; AltName: Full=EEF1A2-binding protein 1; AltName: Full=KY-interacting protein 1;							46.0	43.0	44.0					1																	201185763		2203	4300	6503	SO:0001819	synonymous_variant	91156							g.chr1:201185763C>A	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.9477C>A	1.37:g.201185763C>A						IGFN1_uc001gwb.2_RNA	p.T319T	NM_178275	NP_840059					5	1729	+								F8WAI1|Q9NT72	Silent	SNP	ENST00000335211.4	37	c.957C>A	CCDS53455.1	.	.	.	.	.	.	.	.	.	.	C	10.06	1.245948	0.22796	.	.	ENSG00000163395	ENST00000412892	.	.	.	4.06	0.99	0.19807	.	.	.	.	.	T	0.36908	0.0984	.	.	.	0.31612	N	0.651424	.	.	.	.	.	.	T	0.41270	-0.9518	4	.	.	.	.	5.1144	0.14827	0.0:0.4811:0.2771:0.2419	.	.	.	.	N	577	.	.	H	+	1	0	IGFN1	199452386	0.000000	0.05858	0.965000	0.40720	0.462000	0.32619	-0.055000	0.11807	0.030000	0.15379	0.561000	0.74099	CAC		0.652	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275		31	42	1	0	3.90053e-15	0.002445	6.03547e-15	31	42				
MYOG	4656	broad.mit.edu	37	1	203054631	203054631	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:203054631C>T	ENST00000241651.4	-	1	533	c.459G>A	c.(457-459)ggG>ggA	p.G153G		NM_002479.5	NP_002470.2	P15173	MYOG_HUMAN	myogenin (myogenic factor 4)	153					cell cycle (GO:0007049)|cellular response to estradiol stimulus (GO:0071392)|cellular response to growth factor stimulus (GO:0071363)|cellular response to lithium ion (GO:0071285)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|negative regulation of cell proliferation (GO:0008285)|ossification (GO:0001503)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of muscle atrophy (GO:0014737)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myoblast fusion (GO:1901739)|regulation of satellite cell proliferation (GO:0014842)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to muscle activity involved in regulation of muscle adaptation (GO:0014873)|skeletal muscle fiber development (GO:0048741)|skeletal muscle tissue development (GO:0007519)|striated muscle atrophy (GO:0014891)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|urinary_tract(1)	12						CTGGCTGGGGCCCGCCCCCGC	0.692																																							uc001gzd.2		NA																	0				skin(2)	2						c.(457-459)GGG>GGA		myogenin							13.0	16.0	15.0					1																	203054631		2196	4288	6484	SO:0001819	synonymous_variant	4656				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity	g.chr1:203054631C>T	BC053899	CCDS1433.1	1q31-q41	2013-05-21			ENSG00000122180	ENSG00000122180		"""Basic helix-loop-helix proteins"""	7612	protein-coding gene	gene with protein product		159980		MYF4		10329008	Standard	NM_002479		Approved	bHLHc3	uc001gzd.4	P15173	OTTHUMG00000042127	ENST00000241651.4:c.459G>A	1.37:g.203054631C>T							p.G153G	NM_002479	NP_002470	P15173	MYOG_HUMAN			1	747	-			153					Q53XW6	Silent	SNP	ENST00000241651.4	37	c.459G>A	CCDS1433.1																																																																																				0.692	MYOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100279.1	NM_002479		7	12	0	0	0	0.00308	0	7	12				
ADORA1	134	broad.mit.edu	37	1	203134490	203134490	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:203134490A>G	ENST00000367236.4	+	3	1364	c.443A>G	c.(442-444)aAt>aGt	p.N148S	ADORA1_ENST00000367235.1_3'UTR|ADORA1_ENST00000309502.3_Missense_Mutation_p.N148S|ADORA1_ENST00000472535.1_3'UTR|ADORA1_ENST00000337894.4_Missense_Mutation_p.N148S	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	148					activation of MAPKK activity (GO:0000186)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cognition (GO:0050890)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood pressure (GO:0045776)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of heart contraction (GO:0045822)|negative regulation of hormone secretion (GO:0046888)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of mucus secretion (GO:0070256)|negative regulation of neurotrophin production (GO:0032900)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of vasodilation (GO:0045908)|nervous system development (GO:0007399)|phagocytosis (GO:0006909)|positive regulation of blood pressure (GO:0045777)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of nucleoside transport (GO:0032244)|positive regulation of peptide secretion (GO:0002793)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of protein dephosphorylation (GO:0035307)|protein targeting to membrane (GO:0006612)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of glomerular filtration (GO:0003093)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|relaxation of vascular smooth muscle (GO:0060087)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|temperature homeostasis (GO:0001659)	asymmetric synapse (GO:0032279)|axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled adenosine receptor activity (GO:0001609)|phospholipase C activity (GO:0004629)|purine nucleoside binding (GO:0001883)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Adenosine(DB00640)|Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Gabapentin(DB00996)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Theobromine(DB01412)|Theophylline(DB00277)	GGCTGGAACAATCTGAGTGCG	0.622																																							uc001gze.1		NA																	0				large_intestine(1)	1						c.(442-444)AAT>AGT		adenosine A1 receptor	Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)						96.0	98.0	98.0					1																	203134490		2203	4300	6503	SO:0001583	missense	134				induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane		g.chr1:203134490A>G	BC026340	CCDS1434.1	1q32.1	2012-08-08			ENSG00000163485	ENSG00000163485		"""GPCR / Class A : Adenosine receptors"""	262	protein-coding gene	gene with protein product		102775				1662665, 2541503	Standard	NM_001048230		Approved	RDC7	uc001gzf.1	P30542	OTTHUMG00000042125	ENST00000367236.4:c.443A>G	1.37:g.203134490A>G	ENSP00000356205:p.Asn148Ser					FMOD_uc010pqi.1_Intron|ADORA1_uc001gzf.1_Missense_Mutation_p.N148S|ADORA1_uc010pqg.1_Missense_Mutation_p.N80S|ADORA1_uc009xak.1_Silent_p.Q73Q|ADORA1_uc010pqh.1_Missense_Mutation_p.N181S	p.N148S	NM_000674	NP_000665	P30542	AA1R_HUMAN			4	876	+			148			Extracellular (Potential).		A6NFY5|A6NGP4|A8K1L3|B3KXQ4|D2CGD0|Q6FHK3|Q8TAM8	Missense_Mutation	SNP	ENST00000367236.4	37	c.443A>G	CCDS1434.1	.	.	.	.	.	.	.	.	.	.	A	10.95	1.495433	0.26774	.	.	ENSG00000163485	ENST00000309502;ENST00000367236;ENST00000337894	T;T;T	0.35973	1.28;1.28;1.28	5.05	3.92	0.45320	GPCR, rhodopsin-like superfamily (1);	0.143577	0.64402	D	0.000009	T	0.14141	0.0342	N	0.05050	-0.12	0.51482	D	0.99992	B;P;B	0.45176	0.011;0.852;0.004	B;B;B	0.34418	0.017;0.182;0.004	T	0.06391	-1.0829	10	0.15066	T	0.55	-21.0189	10.9897	0.47543	0.9257:0.0:0.0743:0.0	.	181;80;148	B7Z379;B7Z1L9;P30542	.;.;AA1R_HUMAN	S	148	ENSP00000308549:N148S;ENSP00000356205:N148S;ENSP00000338435:N148S	ENSP00000308549:N148S	N	+	2	0	ADORA1	201401113	1.000000	0.71417	0.980000	0.43619	0.606000	0.37113	7.461000	0.80834	0.873000	0.35799	0.379000	0.24179	AAT		0.622	ADORA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100273.1	NM_000674		13	34	0	0	0	0.00499	0	13	34				
PPP1R15B	84919	broad.mit.edu	37	1	204379825	204379825	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:204379825G>A	ENST00000367188.4	-	1	1094	c.715C>T	c.(715-717)Cag>Tag	p.Q239*	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	239					ER overload response (GO:0006983)|regulation of translation (GO:0006417)|response to hydrogen peroxide (GO:0042542)	protein phosphatase type 1 complex (GO:0000164)	protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			TCACTGTTCTGATAGCTGACT	0.507																																							uc001hav.3		NA																	0				ovary(1)|pancreas(1)	2						c.(715-717)CAG>TAG		protein phosphatase 1, regulatory subunit 15B							100.0	96.0	97.0					1																	204379825		2203	4300	6503	SO:0001587	stop_gained	84919				regulation of translation			g.chr1:204379825G>A	AK027650	CCDS1445.1	1q32.1	2012-04-17	2011-10-04		ENSG00000158615	ENSG00000158615		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14951	protein-coding gene	gene with protein product		613257	"""protein phosphatase 1, regulatory (inhibitor) subunit 15B"""			11948623	Standard	XM_005245551		Approved	FLJ14744	uc001hav.4	Q5SWA1	OTTHUMG00000036105	ENST00000367188.4:c.715C>T	1.37:g.204379825G>A	ENSP00000356156:p.Gln239*						p.Q239*	NM_032833	NP_116222	Q5SWA1	PR15B_HUMAN	all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)		1	1120	-	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		239					Q53GQ4|Q658M2|Q6P156|Q96SN1	Nonsense_Mutation	SNP	ENST00000367188.4	37	c.715C>T	CCDS1445.1	.	.	.	.	.	.	.	.	.	.	G	37	5.997607	0.97184	.	.	ENSG00000158615	ENST00000367188;ENST00000543650	.	.	.	5.2	3.26	0.37387	.	0.225867	0.31438	N	0.007658	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-4.0761	8.4852	0.33067	0.0:0.1688:0.6561:0.1751	.	.	.	.	X	239;149	.	ENSP00000356156:Q239X	Q	-	1	0	PPP1R15B	202646448	0.769000	0.28531	0.497000	0.27552	0.098000	0.18820	2.450000	0.44943	0.535000	0.28714	0.655000	0.94253	CAG		0.507	PPP1R15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087974.1	NM_032833		31	75	0	0	0	0.003755	0	31	75				
NFASC	23114	broad.mit.edu	37	1	204938072	204938073	+	Missense_Mutation	DNP	TG	TG	AT			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:204938072_204938073TG>AT	ENST00000401399.1	+	9	1164_1165	c.965_966TG>AT	c.(964-966)aTG>aAT	p.M322N	NFASC_ENST00000367169.4_Missense_Mutation_p.M322N|NFASC_ENST00000339876.6_Missense_Mutation_p.M322N|NFASC_ENST00000360049.4_Missense_Mutation_p.M333N|NFASC_ENST00000338586.6_Missense_Mutation_p.M322N|NFASC_ENST00000367170.4_Missense_Mutation_p.M322N|NFASC_ENST00000404907.1_Missense_Mutation_p.M333N|NFASC_ENST00000539706.1_Missense_Mutation_p.M333N|NFASC_ENST00000367171.4_Missense_Mutation_p.M322N|NFASC_ENST00000513543.1_Missense_Mutation_p.M333N|NFASC_ENST00000338515.6_Missense_Mutation_p.M322N|NFASC_ENST00000367172.4_Missense_Mutation_p.M322N|NFASC_ENST00000404076.1_Missense_Mutation_p.M316N|NFASC_ENST00000403080.1_Missense_Mutation_p.M322N			O94856	NFASC_HUMAN	neurofascin	322	Ig-like C2-type 3.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TCCAACAAGATGGGCAGCATCC	0.48																																							uc001hbj.2		NA																	0				ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						c.(964-966)ATG>AAT		neurofascin isoform 1 precursor																																				SO:0001583	missense	23114				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	g.chr1:204938072_204938073TG>AT	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	Exception_encountered	1.37:g.204938072_204938073delinsAT	ENSP00000385637:p.Met322Asn					NFASC_uc001hbh.2_Missense_Mutation_p.M322N|NFASC_uc010pqz.1_Missense_Mutation_p.M316N|NFASC_uc010pra.1_Missense_Mutation_p.M333N|NFASC_uc001hbi.2_Missense_Mutation_p.M333N|NFASC_uc009xbg.1_Missense_Mutation_p.M406N|NFASC_uc010prb.1_Missense_Mutation_p.M333N|NFASC_uc010prc.1_Translation_Start_Site|NFASC_uc001hbk.1_Missense_Mutation_p.M143N	p.M322N	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		10	1293_1294	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		322			Extracellular (Potential).|Ig-like C2-type 3.		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	DNP	ENST00000401399.1	37	c.965_966TG>AT	CCDS53460.1																																																																																				0.480	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		26	46	0	0	0	0.004672	0	26	46				
CNTN2	6900	broad.mit.edu	37	1	205030523	205030523	+	Silent	SNP	C	C	A	rs542983417		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:205030523C>A	ENST00000331830.4	+	8	1232	c.948C>A	c.(946-948)acC>acA	p.T316T	AL583832.1_ENST00000515887.1_RNA	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	316	Ig-like C2-type 3.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GCCGAGACACCGTGCAGGGCC	0.642											OREG0014144	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0.0	0.0014	5008	,	,		17193	0.0		0.0	False		,,,				2504	0.0				Melanoma(183;2548 2817 37099 41192)	Melanoma(183;2548 2817 37099 41192)	uc001hbr.2		NA																	0				ovary(1)	1						c.(946-948)ACC>ACA		contactin 2 precursor							68.0	56.0	60.0					1																	205030523		2203	4300	6503	SO:0001819	synonymous_variant	6900				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	g.chr1:205030523C>A	X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.948C>A	1.37:g.205030523C>A			OREG0014144	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2149	CNTN2_uc001hbq.1_Silent_p.T207T|CNTN2_uc009xbi.2_Silent_p.T207T|CNTN2_uc001hbs.2_Silent_p.T104T	p.T316T	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		8	1217	+	all_cancers(21;0.144)|Breast(84;0.0437)		316			Ig-like C2-type 3.		P78432|Q5T054	Silent	SNP	ENST00000331830.4	37	c.948C>A	CCDS1449.1																																																																																				0.642	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076		14	9	1	0	0.000566183	0.00499	0.000622257	14	9				
NUAK2	81788	broad.mit.edu	37	1	205272824	205272824	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:205272824G>T	ENST00000367157.3	-	7	1767	c.1641C>A	c.(1639-1641)agC>agA	p.S547R		NM_030952.1	NP_112214.1			NUAK family, SNF1-like kinase, 2											breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			AGGACAGGATGCTGTCCTCGC	0.682																																							uc001hce.2		NA																	0				ovary(3)|stomach(1)|breast(1)	5						c.(1639-1641)AGC>AGA		NUAK family, SNF1-like kinase, 2							25.0	32.0	29.0					1																	205272824		2198	4292	6490	SO:0001583	missense	81788				actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:205272824G>T	AK074830	CCDS1453.1	1q32.1	2008-02-05			ENSG00000163545	ENSG00000163545			29558	protein-coding gene	gene with protein product	"""SNF1/AMP activated protein kinase"""	608131				11230166	Standard	NM_030952		Approved	SNARK, FLJ90349	uc001hce.3	Q9H093	OTTHUMG00000037196	ENST00000367157.3:c.1641C>A	1.37:g.205272824G>T	ENSP00000356125:p.Ser547Arg						p.S547R	NM_030952	NP_112214	Q9H093	NUAK2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		7	1768	-	Breast(84;0.186)		547						Missense_Mutation	SNP	ENST00000367157.3	37	c.1641C>A	CCDS1453.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.629053	0.67015	.	.	ENSG00000163545	ENST00000367157	D	0.83837	-1.77	4.83	3.91	0.45181	.	0.000000	0.53938	D	0.000057	D	0.89001	0.6591	M	0.70275	2.135	0.54753	D	0.999984	D	0.76494	0.999	D	0.83275	0.996	D	0.88909	0.3358	10	0.87932	D	0	.	10.0623	0.42282	0.1668:0.0:0.8332:0.0	.	547	Q9H093	NUAK2_HUMAN	R	547	ENSP00000356125:S547R	ENSP00000356125:S547R	S	-	3	2	NUAK2	203539447	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.160000	0.42348	1.032000	0.39892	0.400000	0.26472	AGC		0.682	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090390.1	NM_030952		12	34	1	0	0.000308642	0.003163	0.000341227	12	34				
CR1	1378	broad.mit.edu	37	1	207700188	207700188	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:207700188G>T	ENST00000367049.4	+	6	977	c.977G>T	c.(976-978)tGt>tTt	p.C326F	CR1_ENST00000400960.2_Missense_Mutation_p.C326F|CR1_ENST00000367053.1_Missense_Mutation_p.C326F|CR1_ENST00000367050.4_Intron|CR1_ENST00000367051.1_Intron|CR1_ENST00000367052.1_Missense_Mutation_p.C326F	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	326	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTCTACAGCTGTGAGCCCGGC	0.587																																							uc001hfy.2		NA																	0				ovary(3)	3						c.(976-978)TGT>TTT		complement receptor 1 isoform F precursor							55.0	86.0	78.0					1																	207700188		1332	3976	5308	SO:0001583	missense	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207700188G>T	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.977G>T	1.37:g.207700188G>T	ENSP00000356016:p.Cys326Phe					CR1_uc009xcl.1_Intron|CR1_uc001hfx.2_Missense_Mutation_p.C326F|CR1_uc009xcj.1_Intron|CR1_uc009xck.1_Missense_Mutation_p.C326F|CR1_uc010psh.1_5'Flank	p.C326F	NM_000573	NP_000564	P17927	CR1_HUMAN			6	1117	+			326			Sushi 5.|Extracellular (Potential).		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	37	c.977G>T	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.004270	0.35320	.	.	ENSG00000203710	ENST00000367052;ENST00000367053;ENST00000400960;ENST00000367049	D;D;D;D	0.99784	-6.74;-6.74;-6.74;-6.74	3.73	2.81	0.32909	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	D	0.99840	0.9927	H	0.99325	4.515	0.39641	D	0.97032	D;D;D	0.76494	0.999;0.995;0.99	D;D;D	0.91635	0.999;0.948;0.93	D	0.98383	1.0559	9	0.32370	T	0.25	.	7.4409	0.27183	0.1272:0.0:0.8728:0.0	.	326;326;326	E9PQN4;P17927;E9PDY4	.;CR1_HUMAN;.	F	326	ENSP00000356019:C326F;ENSP00000356020:C326F;ENSP00000383744:C326F;ENSP00000356016:C326F	ENSP00000356016:C326F	C	+	2	0	CR1	205766811	1.000000	0.71417	0.995000	0.50966	0.374000	0.29953	2.974000	0.49272	0.677000	0.31305	0.563000	0.77884	TGT		0.587	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		42	176	1	0	6.81593e-30	0.00361	1.20802e-29	42	176				
CD34	947	broad.mit.edu	37	1	208072464	208072464	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:208072464G>T	ENST00000310833.7	-	3	691	c.370C>A	c.(370-372)Cca>Aca	p.P124T	CD34_ENST00000485761.1_5'UTR|CD34_ENST00000356522.4_Missense_Mutation_p.P124T|CD34_ENST00000537704.1_Intron	NM_001025109.1	NP_001020280.1	P28906	CD34_HUMAN	CD34 molecule	124					cell motility (GO:0048870)|cell proliferation (GO:0008283)|endothelial cell proliferation (GO:0001935)|endothelium development (GO:0003158)|extracellular vesicular exosome assembly (GO:0071971)|glomerular endothelium development (GO:0072011)|glomerular filtration (GO:0003094)|glutamate metabolic process (GO:0006536)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|leukocyte migration (GO:0050900)|mesangial cell-matrix adhesion (GO:0035759)|metanephric glomerular mesangial cell differentiation (GO:0072254)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cellular response to heat (GO:1900035)|negative regulation of cellular response to hypoxia (GO:1900038)|negative regulation of gene expression (GO:0010629)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of neuron death (GO:1901215)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of tumor necrosis factor production (GO:0032720)|paracrine signaling (GO:0038001)|positive regulation of angiogenesis (GO:0045766)|positive regulation of gene expression (GO:0010628)|positive regulation of glial cell line-derived neurotrophic factor secretion (GO:1900168)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of odontogenesis (GO:0042482)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasculogenesis (GO:2001214)|regulation of blood pressure (GO:0008217)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|stem cell proliferation (GO:0072089)|tissue homeostasis (GO:0001894)|transdifferentiation (GO:0060290)|vascular wound healing (GO:0061042)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|glomerular endothelium fenestra (GO:0036053)|integral component of plasma membrane (GO:0005887)|intercellular bridge (GO:0045171)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|sulfate binding (GO:0043199)|transcription factor binding (GO:0008134)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						ACGTTGGCTGGGGTGGTGAAC	0.463																																							uc001hgw.1		NA																	0				ovary(1)	1						c.(370-372)CCA>ACA		CD34 antigen isoform a							282.0	261.0	268.0					1																	208072464		2203	4300	6503	SO:0001583	missense	947				cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding	g.chr1:208072464G>T	M81104	CCDS31011.1, CCDS31012.1	1q32	2008-02-05	2006-03-28		ENSG00000174059	ENSG00000174059		"""CD molecules"""	1662	protein-coding gene	gene with protein product		142230	"""CD34 antigen"""			1370171, 1374051	Standard	NM_001025109		Approved		uc001hgw.1	P28906	OTTHUMG00000036565	ENST00000310833.7:c.370C>A	1.37:g.208072464G>T	ENSP00000310036:p.Pro124Thr					CD34_uc001hgx.1_Missense_Mutation_p.P124T|CD34_uc010psj.1_Intron	p.P124T	NM_001025109	NP_001020280	P28906	CD34_HUMAN			3	628	-			124			Extracellular (Potential).		A8K664|Q15970|Q15971|Q5JTA3|Q5JTA4|Q9UJB1	Missense_Mutation	SNP	ENST00000310833.7	37	c.370C>A	CCDS31011.1	.	.	.	.	.	.	.	.	.	.	G	2.821	-0.244788	0.05906	.	.	ENSG00000174059	ENST00000310833;ENST00000356522;ENST00000367037	T;T	0.11169	2.8;2.8	4.53	-4.21	0.03812	.	1.193210	0.05764	N	0.605498	T	0.05823	0.0152	L	0.34521	1.04	0.09310	N	1	B;B	0.16396	0.017;0.004	B;B	0.14578	0.011;0.003	T	0.40794	-0.9544	10	0.05620	T	0.96	10.5384	3.5807	0.07952	0.3661:0.0:0.2371:0.3968	.	124;124	P28906-2;P28906	.;CD34_HUMAN	T	124;124;94	ENSP00000310036:P124T;ENSP00000348916:P124T	ENSP00000310036:P124T	P	-	1	0	CD34	206139087	0.000000	0.05858	0.000000	0.03702	0.401000	0.30781	-2.232000	0.01205	-1.014000	0.03379	0.591000	0.81541	CCA		0.463	CD34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088933.1	NM_001773		46	183	1	0	4.0181e-32	0.00361	7.19003e-32	46	183				
PLXNA2	5362	broad.mit.edu	37	1	208391011	208391011	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:208391011C>A	ENST00000367033.3	-	2	1014	c.257G>T	c.(256-258)gGg>gTg	p.G86V		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	86	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CTCTTCTGGCCCTGTCTTATG	0.567																																							uc001hgz.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(256-258)GGG>GTG		plexin A2 precursor							117.0	109.0	112.0					1																	208391011		2203	4300	6503	SO:0001583	missense	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208391011C>A	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.257G>T	1.37:g.208391011C>A	ENSP00000356000:p.Gly86Val					PLXNA2_uc001hha.3_Missense_Mutation_p.G140V	p.G86V	NM_025179	NP_079455	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	2	1015	-			86			Extracellular (Potential).|Sema.		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	c.257G>T	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.520924	0.85495	.	.	ENSG00000076356	ENST00000367033	T	0.10477	2.87	5.7	5.7	0.88788	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.258568	0.37483	N	0.002070	T	0.45236	0.1332	M	0.91038	3.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.54603	-0.8269	10	0.87932	D	0	.	19.8305	0.96632	0.0:1.0:0.0:0.0	.	140;86	O75051-2;O75051	.;PLXA2_HUMAN	V	86	ENSP00000356000:G86V	ENSP00000356000:G86V	G	-	2	0	PLXNA2	206457634	1.000000	0.71417	0.947000	0.38551	0.989000	0.77384	7.538000	0.82048	2.692000	0.91855	0.557000	0.71058	GGG		0.567	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		39	39	1	0	1.02687e-29	0.003214	1.81564e-29	39	39				
LAMB3	3914	broad.mit.edu	37	1	209791292	209791292	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:209791292G>A	ENST00000356082.4	-	20	3145	c.3011C>T	c.(3010-3012)aCc>aTc	p.T1004I	LAMB3_ENST00000367030.3_Missense_Mutation_p.T1004I|LAMB3_ENST00000391911.1_Missense_Mutation_p.T1004I	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	1004	Domain I.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GGAGCGGCTGGTGCCTTGCAT	0.587																																							uc001hhg.2		NA																	0				central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6						c.(3010-3012)ACC>ATC		laminin, beta 3 precursor							101.0	92.0	95.0					1																	209791292		2203	4300	6503	SO:0001583	missense	3914				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	g.chr1:209791292G>A	D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.3011C>T	1.37:g.209791292G>A	ENSP00000348384:p.Thr1004Ile					LAMB3_uc009xco.2_Missense_Mutation_p.T1004I|LAMB3_uc001hhh.2_Missense_Mutation_p.T1004I	p.T1004I	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0519)	19	3401	-			1004			Domain I.|Potential.		D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	ENST00000356082.4	37	c.3011C>T	CCDS1487.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.205011	0.58234	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030;ENST00000455193	T;T;T;T	0.22945	1.93;1.93;1.93;2.33	4.47	4.47	0.54385	.	0.270920	0.35970	N	0.002871	T	0.23210	0.0561	L	0.32530	0.975	0.30278	N	0.791592	B	0.24092	0.097	B	0.23150	0.044	T	0.19257	-1.0311	10	0.66056	D	0.02	.	17.1328	0.86730	0.0:0.0:1.0:0.0	.	1004	Q13751	LAMB3_HUMAN	I	1004;1004;1004;73	ENSP00000375778:T1004I;ENSP00000348384:T1004I;ENSP00000355997:T1004I;ENSP00000398683:T73I	ENSP00000348384:T1004I	T	-	2	0	LAMB3	207857915	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	6.755000	0.74914	2.200000	0.70718	0.456000	0.33151	ACC		0.587	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228		27	98	0	0	0	0.002096	0	27	98				
PTPN14	5784	broad.mit.edu	37	1	214557590	214557590	+	Silent	SNP	C	C	A	rs369464407		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:214557590C>A	ENST00000366956.5	-	13	1802	c.1608G>T	c.(1606-1608)acG>acT	p.T536T	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	536					lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GGGTGCTCACCGTGTGCGAGA	0.572																																					Colon(92;557 1424 24372 34121 40073)	Colon(92;557 1424 24372 34121 40073)	uc001hkk.1		NA																	0				breast(2)|ovary(1)|kidney(1)|skin(1)	5						c.(1606-1608)ACG>ACT		protein tyrosine phosphatase, non-receptor type							92.0	95.0	94.0					1																	214557590		2203	4300	6503	SO:0001819	synonymous_variant	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214557590C>A	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.1608G>T	1.37:g.214557590C>A						PTPN14_uc010pty.1_Silent_p.T437T	p.T536T	NM_005401	NP_005392	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	13	1879	-			536					Q5VSI0	Silent	SNP	ENST00000366956.5	37	c.1608G>T	CCDS1514.1																																																																																				0.572	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		24	144	1	0	7.33532e-06	0.003954	8.71216e-06	24	144				
KCTD3	51133	broad.mit.edu	37	1	215793784	215793784	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:215793784G>T	ENST00000259154.4	+	18	2566	c.2272G>T	c.(2272-2274)Gga>Tga	p.G758*	KCTD3_ENST00000495537.1_3'UTR	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	758					protein homooligomerization (GO:0051260)					breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		GAAGAAAGGAGGATTTGAAGG	0.413																																							uc001hks.2		NA																	0				ovary(3)	3						c.(2272-2274)GGA>TGA		potassium channel tetramerisation domain							85.0	87.0	87.0					1																	215793784		2203	4299	6502	SO:0001587	stop_gained	51133					voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr1:215793784G>T	AK024547	CCDS1515.1	1q41	2013-06-20	2013-06-20		ENSG00000136636	ENSG00000136636			21305	protein-coding gene	gene with protein product		613272	"""potassium channel tetramerisation domain containing 3"""			10508479	Standard	NM_016121		Approved	NY-REN-45	uc001hks.3	Q9Y597	OTTHUMG00000037019	ENST00000259154.4:c.2272G>T	1.37:g.215793784G>T	ENSP00000259154:p.Gly758*					KCTD3_uc001hkt.2_Nonsense_Mutation_p.G756*|KCTD3_uc010pub.1_Nonsense_Mutation_p.G656*|KCTD3_uc009xdn.2_Nonsense_Mutation_p.G482*	p.G758*	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN		all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)	18	2566	+			758					A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Nonsense_Mutation	SNP	ENST00000259154.4	37	c.2272G>T	CCDS1515.1	.	.	.	.	.	.	.	.	.	.	G	42	9.307265	0.99132	.	.	ENSG00000136636	ENST00000259154	.	.	.	5.81	5.81	0.92471	.	0.052377	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.9508	20.073	0.97731	0.0:0.0:1.0:0.0	.	.	.	.	X	758	.	ENSP00000259154:G758X	G	+	1	0	KCTD3	213860407	1.000000	0.71417	0.983000	0.44433	0.994000	0.84299	5.494000	0.66905	2.750000	0.94351	0.655000	0.94253	GGA		0.413	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089871.2	NM_016121		19	76	1	0	8.10497e-08	0.010504	1.03987e-07	19	76				
USH2A	7399	broad.mit.edu	37	1	215847863	215847863	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:215847863A>T	ENST00000307340.3	-	63	13776	c.13390T>A	c.(13390-13392)Tgg>Agg	p.W4464R	USH2A_ENST00000366943.2_Missense_Mutation_p.W4464R	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4464	Fibronectin type-III 30. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.W4464R(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGAGGTTTCCAGGTGATTTCT	0.453										HNSCC(13;0.011)																													uc001hku.1		NA																	2	Substitution - Missense(2)		breast(2)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(13390-13392)TGG>AGG		usherin isoform B							117.0	121.0	119.0					1																	215847863		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215847863A>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.13390T>A	1.37:g.215847863A>T	ENSP00000305941:p.Trp4464Arg	HNSCC(13;0.011)					p.W4464R	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	63	13777	-			4464			Fibronectin type-III 30.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.13390T>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	A	19.39	3.817961	0.71028	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	D;D	0.91011	-2.77;-2.1	4.41	4.41	0.53225	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.39985	U	0.001213	D	0.96685	0.8918	H	0.96430	3.82	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97815	1.0253	10	0.87932	D	0	.	13.9406	0.64052	1.0:0.0:0.0:0.0	.	4464	O75445	USH2A_HUMAN	R	4464	ENSP00000305941:W4464R;ENSP00000355910:W4464R	ENSP00000305941:W4464R	W	-	1	0	USH2A	213914486	1.000000	0.71417	0.999000	0.59377	0.901000	0.52897	7.082000	0.76851	1.754000	0.51921	0.383000	0.25322	TGG		0.453	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		36	105	0	0	0	0.00623	0	36	105				
USH2A	7399	broad.mit.edu	37	1	216243462	216243462	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:216243462G>T	ENST00000307340.3	-	30	6416	c.6030C>A	c.(6028-6030)gtC>gtA	p.V2010V	RP11-22M7.2_ENST00000446411.1_RNA|USH2A_ENST00000366943.2_Silent_p.V2010V|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2010	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGCTTGTATTGACAAATTCAG	0.408										HNSCC(13;0.011)																													uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(6028-6030)GTC>GTA		usherin isoform B							102.0	99.0	100.0					1																	216243462		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216243462G>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.6030C>A	1.37:g.216243462G>T		HNSCC(13;0.011)					p.V2010V	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	30	6417	-			2010			Extracellular (Potential).|Fibronectin type-III 6.		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.6030C>A	CCDS31025.1																																																																																				0.408	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		21	61	1	0	7.07758e-08	0.004656	9.1199e-08	21	61				
USH2A	7399	broad.mit.edu	37	1	216258067	216258067	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:216258067T>A	ENST00000307340.3	-	25	5526	c.5140A>T	c.(5140-5142)Aat>Tat	p.N1714Y	RP11-22M7.2_ENST00000446411.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.N1714Y|RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1714	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCTCCCTCATTTAATGAAGCG	0.403										HNSCC(13;0.011)																													uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(5140-5142)AAT>TAT		usherin isoform B							107.0	104.0	105.0					1																	216258067		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216258067T>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.5140A>T	1.37:g.216258067T>A	ENSP00000305941:p.Asn1714Tyr	HNSCC(13;0.011)					p.N1714Y	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	25	5527	-			1714			Laminin G-like 2.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.5140A>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	12.34	1.909287	0.33721	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.79749	-1.3;-1.3	4.93	1.52	0.23074	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (1);Laminin G domain (1);	1.481770	0.04443	N	0.371226	T	0.60392	0.2265	N	0.08118	0	0.09310	N	1	P	0.35600	0.511	B	0.31751	0.135	T	0.56232	-0.8013	10	0.72032	D	0.01	.	1.1842	0.01851	0.1355:0.2763:0.1667:0.4215	.	1714	O75445	USH2A_HUMAN	Y	1714	ENSP00000305941:N1714Y;ENSP00000355910:N1714Y	ENSP00000305941:N1714Y	N	-	1	0	USH2A	214324690	0.001000	0.12720	0.008000	0.14137	0.968000	0.65278	0.871000	0.28023	0.041000	0.15688	0.529000	0.55759	AAT		0.403	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		12	83	0	0	0	0.003163	0	12	83				
USH2A	7399	broad.mit.edu	37	1	216595579	216595579	+	Silent	SNP	G	G	T	rs141672841		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:216595579G>T	ENST00000307340.3	-	2	486	c.100C>A	c.(100-102)Cga>Aga	p.R34R	USH2A_ENST00000366943.2_Silent_p.R34R|USH2A_ENST00000366942.3_Silent_p.R34R	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	34					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AAAAGACCTCGTGACTCAGTC	0.458										HNSCC(13;0.011)																													uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26	GRCh37	CI086066|CM001803	USH2A	I|M	rs141672841	c.(100-102)CGA>AGA		usherin isoform B							76.0	80.0	79.0					1																	216595579		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216595579G>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.100C>A	1.37:g.216595579G>T		HNSCC(13;0.011)				USH2A_uc001hkv.2_Silent_p.R34R	p.R34R	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	2	487	-			34			Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.100C>A	CCDS31025.1																																																																																				0.458	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		18	65	1	0	1.37522e-17	0.007413	2.22762e-17	18	65				
SPATA17	128153	broad.mit.edu	37	1	217822223	217822223	+	Splice_Site	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:217822223G>C	ENST00000366933.4	+	2	123		c.e2-1			NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17							cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		TTTTGTTTTAGTGTTGTAGAT	0.308																																							uc001hlh.1		NA																	0				pancreas(1)	1						c.e2-1		spermatogenesis associated 17							84.0	84.0	84.0					1																	217822223		2203	4299	6502	SO:0001630	splice_region_variant	128153					cytoplasm	calmodulin binding	g.chr1:217822223G>C	AK098591	CCDS1519.1	1q41	2008-02-05			ENSG00000162814	ENSG00000162814			25184	protein-coding gene	gene with protein product	"""IQ motif containing H"""	611032				16395525	Standard	NM_138796		Approved	IQCH	uc001hlh.1	Q96L03	OTTHUMG00000037875	ENST00000366933.4:c.69-1G>C	1.37:g.217822223G>C						SPATA17_uc009xdr.1_Splice_Site|SPATA17_uc001hli.2_Splice_Site_p.S23_splice	p.S23_splice	NM_138796	NP_620151	Q96L03	SPT17_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)	2	95	+								A5D6N2	Splice_Site	SNP	ENST00000366933.4	37	c.69_splice	CCDS1519.1	.	.	.	.	.	.	.	.	.	.	G	7.309	0.614627	0.14129	.	.	ENSG00000162814	ENST00000366933	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6768	0.68986	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SPATA17	215888846	0.994000	0.37717	0.437000	0.26809	0.026000	0.11368	2.538000	0.45710	2.607000	0.88179	0.650000	0.86243	.		0.308	SPATA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092433.2	NM_138796	Intron	12	64	0	0	0	0.001855	0	12	64				
RAB3GAP2	25782	broad.mit.edu	37	1	220379258	220379258	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:220379258C>A	ENST00000358951.2	-	8	819	c.703G>T	c.(703-705)Gta>Tta	p.V235L		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	235					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CCTTTTGCTACCTGATTTCGA	0.308																																							uc010puk.1		NA																	0				central_nervous_system(1)	1						c.(703-705)GTA>TTA		rab3 GTPase-activating protein, non-catalytic							56.0	54.0	55.0					1																	220379258		2203	4299	6502	SO:0001583	missense	25782				intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	g.chr1:220379258C>A	AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.703G>T	1.37:g.220379258C>A	ENSP00000351832:p.Val235Leu					RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_5'UTR	p.V235L	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN		GBM - Glioblastoma multiforme(131;0.0443)	8	867	-			235					A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Missense_Mutation	SNP	ENST00000358951.2	37	c.703G>T	CCDS31028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.45|18.45	3.626192|3.626192	0.66901|0.66901	.|.	.|.	ENSG00000118873|ENSG00000118873	ENST00000484658|ENST00000358951	.|T	.|0.29142	.|1.58	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.22898|0.22898	0.0553|0.0553	N|N	0.16307|0.16307	0.4|0.4	0.80722|0.80722	D|D	1|1	.|B	.|0.29646	.|0.253	.|B	.|0.33392	.|0.163	T|T	0.05321|0.05321	-1.0892|-1.0892	5|10	.|0.11182	.|T	.|0.66	.|.	19.5578|19.5578	0.95358|0.95358	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|235	.|Q9H2M9	.|RBGPR_HUMAN	V|L	136|235	.|ENSP00000351832:V235L	.|ENSP00000351832:V235L	G|V	-|-	2|1	0|0	RAB3GAP2|RAB3GAP2	218445881|218445881	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.901000|6.901000	0.75693|0.75693	2.695000|2.695000	0.91970|0.91970	0.563000|0.563000	0.77884|0.77884	GGT|GTA		0.308	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2	NM_012414		20	14	1	0	1.96895e-08	0.00278	2.58414e-08	20	14				
MARK1	4139	broad.mit.edu	37	1	220835440	220835440	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:220835440C>T	ENST00000366917.4	+	18	2586	c.2320C>T	c.(2320-2322)Cga>Tga	p.R774*	MARK1_ENST00000366918.4_Nonsense_Mutation_p.R737*|MARK1_ENST00000402574.1_Nonsense_Mutation_p.R624*|RP11-322F10.2_ENST00000446040.1_RNA					MAP/microtubule affinity-regulating kinase 1											central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		TCGCTTCAAGCGAATATCTGG	0.438																																							uc001hmn.3		NA																	0				ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1)	10						c.(2320-2322)CGA>TGA		MAP/microtubule affinity-regulating kinase 1							103.0	99.0	100.0					1																	220835440		2203	4300	6503	SO:0001587	stop_gained	4139				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:220835440C>T	AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.2320C>T	1.37:g.220835440C>T	ENSP00000355884:p.Arg774*					MARK1_uc009xdw.2_Nonsense_Mutation_p.R775*|MARK1_uc010pun.1_Nonsense_Mutation_p.R759*|MARK1_uc001hmm.3_Nonsense_Mutation_p.R737*	p.R774*	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN		GBM - Glioblastoma multiforme(131;0.0407)	18	2917	+			774			KA1.			Nonsense_Mutation	SNP	ENST00000366917.4	37	c.2320C>T	CCDS31029.2	.	.	.	.	.	.	.	.	.	.	C	43	10.434829	0.99404	.	.	ENSG00000116141	ENST00000402574;ENST00000366918;ENST00000366917	.	.	.	6.06	5.09	0.68999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0513	0.64739	0.2521:0.7479:0.0:0.0	.	.	.	.	X	624;737;774	.	ENSP00000355884:R774X	R	+	1	2	MARK1	218902063	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.283000	0.43470	2.880000	0.98712	0.650000	0.86243	CGA		0.438	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090899.1			32	33	0	0	0	0.004878	0	32	33				
HLX	3142	broad.mit.edu	37	1	221057824	221057824	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:221057824C>T	ENST00000366903.6	+	4	2746	c.1245C>T	c.(1243-1245)ctC>ctT	p.L415L	HLX_ENST00000549319.1_Silent_p.L201L	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	415	Ser-rich.				cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		CTGGCGCCCTCATTACCGCca	0.622																																							uc001hmv.3		NA																	0				ovary(2)	2						c.(1243-1245)CTC>CTT		H2.0-like homeobox							41.0	37.0	39.0					1																	221057824		2203	4300	6503	SO:0001819	synonymous_variant	3142				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:221057824C>T	BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"""Homeoboxes / ANTP class : NKL subclass"""	4978	protein-coding gene	gene with protein product		142995	"""H2.0 (Drosophila)-like homeo box 1"", ""H2.0-like homeobox 1 (Drosophila)"", ""H2.0-like homeobox 1"""	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.1245C>T	1.37:g.221057824C>T							p.L415L	NM_021958	NP_068777	Q14774	HLX_HUMAN		GBM - Glioblastoma multiforme(131;0.00914)	4	1702	+			415			Ser-rich.		B2R8A8|Q15988|Q59HE7|Q9NZ75	Silent	SNP	ENST00000366903.6	37	c.1245C>T	CCDS1527.1																																																																																				0.622	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090902.3	NM_021958		5	11	0	0	0	0.001168	0	5	11				
NID1	4811	broad.mit.edu	37	1	236205319	236205319	+	Silent	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:236205319G>C	ENST00000264187.6	-	4	1108	c.1026C>G	c.(1024-1026)ccC>ccG	p.P342P	NID1_ENST00000366595.3_Silent_p.P342P	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	342					basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	GAGGTCCAAGGGGCCTTTCGG	0.582																																							uc001hxo.2		NA																	0				large_intestine(1)|pancreas(1)	2						c.(1024-1026)CCC>CCG		nidogen 1 precursor	Becaplermin(DB00102)|Urokinase(DB00013)						66.0	69.0	68.0					1																	236205319		2203	4300	6503	SO:0001819	synonymous_variant	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236205319G>C	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.1026C>G	1.37:g.236205319G>C						NID1_uc009xgd.2_Silent_p.P342P	p.P342P	NM_002508	NP_002499	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		4	1128	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	342					Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Silent	SNP	ENST00000264187.6	37	c.1026C>G	CCDS1608.1																																																																																				0.582	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		30	24	0	0	0	0.003271	0	30	24				
ACTN2	88	broad.mit.edu	37	1	236907948	236907948	+	Missense_Mutation	SNP	G	G	T	rs397516565		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:236907948G>T	ENST00000366578.4	+	12	1444	c.1278G>T	c.(1276-1278)caG>caT	p.Q426H	ACTN2_ENST00000542672.1_Missense_Mutation_p.Q426H|ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000546208.1_5'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	426					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TCTTGCTGCAGAAGGATTACG	0.597																																							uc001hyf.2		NA																	0				ovary(4)|skin(1)	5						c.(1276-1278)CAG>CAT		actinin, alpha 2							51.0	46.0	48.0					1																	236907948		2203	4300	6503	SO:0001583	missense	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236907948G>T	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.1278G>T	1.37:g.236907948G>T	ENSP00000355537:p.Gln426His					ACTN2_uc001hyg.2_Missense_Mutation_p.Q218H|ACTN2_uc009xgi.1_Missense_Mutation_p.Q426H|ACTN2_uc010pxu.1_Missense_Mutation_p.Q115H|ACTN2_uc001hyh.2_Missense_Mutation_p.Q114H	p.Q426H	NM_001103	NP_001094	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		12	1482	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	426			Spectrin 2.		B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	c.1278G>T	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.927581	0.52759	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000545611	T;T	0.51817	0.69;0.69	5.17	5.17	0.71159	.	0.153256	0.64402	N	0.000010	T	0.53174	0.1780	L	0.47016	1.485	0.80722	D	1	B;B;B;B	0.27594	0.002;0.001;0.001;0.182	B;B;B;B	0.44315	0.018;0.022;0.012;0.446	T	0.52756	-0.8533	10	0.40728	T	0.16	.	13.364	0.60674	0.0762:0.0:0.9238:0.0	.	211;426;196;426	B7Z4K1;B2RCS5;Q59FD9;P35609	.;.;.;ACTN2_HUMAN	H	426;426;195	ENSP00000443495:Q426H;ENSP00000355537:Q426H	ENSP00000355537:Q426H	Q	+	3	2	ACTN2	234974571	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	8.004000	0.88535	2.546000	0.85860	0.563000	0.77884	CAG		0.597	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		18	14	1	0	6.33239e-15	0.010504	9.74768e-15	18	14				
RYR2	6262	broad.mit.edu	37	1	237756790	237756790	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:237756790G>T	ENST00000366574.2	+	33	4607	c.4290G>T	c.(4288-4290)gtG>gtT	p.V1430V	RYR2_ENST00000360064.6_Silent_p.V1428V|RYR2_ENST00000542537.1_Silent_p.V1414V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1430	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATTACTCAGTGAGAATCTTTC	0.398																																							uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(4288-4290)GTG>GTT		cardiac muscle ryanodine receptor							109.0	97.0	101.0					1																	237756790		1875	4103	5978	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237756790G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.4290G>T	1.37:g.237756790G>T							p.V1430V	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		33	4410	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1430			Cytoplasmic (By similarity).|B30.2/SPRY 3.|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.4290G>T	CCDS55691.1																																																																																				0.398	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		26	20	1	0	4.74835e-14	0.002096	7.16833e-14	26	20				
FMN2	56776	broad.mit.edu	37	1	240255893	240255893	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:240255893G>T	ENST00000319653.9	+	1	714	c.484G>T	c.(484-486)Gat>Tat	p.D162Y		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	162					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.D305Y(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GATCGCCGAGGATGTGGAAAC	0.642																																							uc010pyd.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(484-486)GAT>TAT		formin 2							43.0	46.0	45.0					1																	240255893		2203	4300	6503	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240255893G>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.484G>T	1.37:g.240255893G>T	ENSP00000318884:p.Asp162Tyr					FMN2_uc010pye.1_Missense_Mutation_p.D162Y	p.D162Y	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		1	709	+	Ovarian(103;0.127)	all_cancers(173;0.013)	162					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.484G>T	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	G	4.385	0.071118	0.08436	.	.	ENSG00000155816	ENST00000319653	T	0.33216	1.42	4.35	1.29	0.21616	.	0.470670	0.17804	N	0.161480	T	0.17492	0.0420	L	0.27053	0.805	0.09310	N	0.999999	B	0.09022	0.002	B	0.06405	0.002	T	0.18178	-1.0345	10	0.87932	D	0	.	3.3085	0.07009	0.2243:0.0:0.5685:0.2072	.	162	Q9NZ56	FMN2_HUMAN	Y	162	ENSP00000318884:D162Y	ENSP00000318884:D162Y	D	+	1	0	FMN2	238322516	0.997000	0.39634	0.394000	0.26270	0.457000	0.32468	1.860000	0.39428	0.368000	0.24481	0.313000	0.20887	GAT		0.642	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		22	13	1	0	1.37878e-21	0.00333	2.32718e-21	22	13				
SMYD3	64754	broad.mit.edu	37	1	246093203	246093203	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:246093203T>A	ENST00000388985.4	-	6	567	c.568A>T	c.(568-570)Atg>Ttg	p.M190L	SMYD3_ENST00000490107.1_Missense_Mutation_p.M131L|SMYD3_ENST00000541742.1_Missense_Mutation_p.M131L|SMYD3_ENST00000366517.1_5'UTR			Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	190	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cellular response to dexamethasone stimulus (GO:0071549)|establishment of protein localization (GO:0045184)|myotube cell development (GO:0014904)|negative regulation of protein kinase activity (GO:0006469)|nucleosome assembly (GO:0006334)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)			breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		ACTTCCTGCATCTCCGCATTA	0.453																																							uc001ibl.2		NA																	0					0						c.(568-570)ATG>TTG		SET and MYND domain containing 3							147.0	114.0	125.0					1																	246093203		2203	4300	6503	SO:0001583	missense	64754					cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:246093203T>A	AK023594	CCDS31083.1	1q44	2011-07-01	2003-05-14	2003-05-16	ENSG00000185420	ENSG00000185420		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	15513	protein-coding gene	gene with protein product		608783	"""zinc finger, MYND domain containing 1"""	ZNFN3A1, ZMYND1			Standard	NM_022743		Approved	KMT3E	uc001ibl.3	Q9H7B4	OTTHUMG00000040508	ENST00000388985.4:c.568A>T	1.37:g.246093203T>A	ENSP00000373637:p.Met190Leu					SMYD3_uc001ibk.2_Missense_Mutation_p.M131L|SMYD3_uc001ibi.2_Missense_Mutation_p.M1L|SMYD3_uc001ibj.2_Missense_Mutation_p.M1L	p.M190L	NM_022743	NP_073580	Q9H7B4	SMYD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)	6	663	-	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	190			SET.		A8K0P0|B1AN38|Q86TL8|Q8N5Z6|Q96AI5	Missense_Mutation	SNP	ENST00000388985.4	37	c.568A>T	CCDS53486.1	.	.	.	.	.	.	.	.	.	.	T	7.992	0.753568	0.15778	.	.	ENSG00000185420	ENST00000541742;ENST00000490107;ENST00000544586;ENST00000388985;ENST00000391836;ENST00000453676	T;T;T;T;T	0.35236	2.08;2.08;2.08;1.32;1.69	5.97	4.83	0.62350	SET domain (2);	0.483930	0.26244	N	0.025484	T	0.13927	0.0337	N	0.02539	-0.55	0.34698	D	0.72641	B;B	0.21520	0.0;0.057	B;B	0.17722	0.001;0.019	T	0.21211	-1.0252	10	0.02654	T	1	3.2727	13.3157	0.60405	0.0:0.0:0.1321:0.8679	.	190;1	Q9H7B4;B3KN46	SMYD3_HUMAN;.	L	131;131;20;190;1;131	ENSP00000444184:M131L;ENSP00000419184:M131L;ENSP00000373637:M190L;ENSP00000375712:M1L;ENSP00000408122:M131L	ENSP00000373637:M190L	M	-	1	0	SMYD3	244159826	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.868000	0.56055	1.060000	0.40578	0.533000	0.62120	ATG		0.453	SMYD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_022743		41	59	0	0	0	0.00361	0	41	59				
OR13G1	441933	broad.mit.edu	37	1	247835510	247835510	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:247835510C>A	ENST00000359688.2	-	1	855	c.834G>T	c.(832-834)gtG>gtT	p.V278V	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	278						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V278V(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-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)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ATGTGGGAGTCACAAGAGTAT	0.438																																							uc001idi.1		NA																	2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(832-834)GTG>GTT		olfactory receptor, family 13, subfamily G,							115.0	117.0	117.0					1																	247835510		2203	4300	6503	SO:0001819	synonymous_variant	441933				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247835510C>A	AB065623	CCDS31094.1	1q44	2012-08-09			ENSG00000197437	ENSG00000197437		"""GPCR / Class A : Olfactory receptors"""	14999	protein-coding gene	gene with protein product		611677					Standard	NM_001005487		Approved		uc001idi.1	Q8NGZ3	OTTHUMG00000040212	ENST00000359688.2:c.834G>T	1.37:g.247835510C>A							p.V278V	NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	834	-	all_cancers(71;3.24e-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)		278			Helical; Name=7; (Potential).		B2RN80|Q5T2T2|Q6IF86	Silent	SNP	ENST00000359688.2	37	c.834G>T	CCDS31094.1																																																																																				0.438	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096869.1	NM_001005487		50	37	1	0	2.76378e-25	0.00361	4.80111e-25	50	37				
OR2L3	391192	broad.mit.edu	37	1	248224661	248224661	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:248224661C>A	ENST00000359959.3	+	1	678	c.678C>A	c.(676-678)caC>caA	p.H226Q	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	226						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	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;0.0278)			CTGTCTACCACATGAAATCTG	0.463																																							uc001idx.1		NA																	0					0						c.(676-678)CAC>CAA		olfactory receptor, family 2, subfamily L,							151.0	145.0	147.0					1																	248224661		2203	4300	6503	SO:0001583	missense	391192				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248224661C>A	AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"""GPCR / Class A : Olfactory receptors"""	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.678C>A	1.37:g.248224661C>A	ENSP00000353044:p.His226Gln					OR2L13_uc001ids.2_Intron	p.H226Q	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	678	+	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)		226			Cytoplasmic (Potential).		B9EH44	Missense_Mutation	SNP	ENST00000359959.3	37	c.678C>A	CCDS31104.1	.	.	.	.	.	.	.	.	.	.	C	0.021	-1.420742	0.01126	.	.	ENSG00000198128	ENST00000359959	T	0.00044	8.83	2.05	-0.468	0.12146	GPCR, rhodopsin-like superfamily (1);	1.180030	0.06643	U	0.761494	T	0.00073	0.0002	N	0.03177	-0.4	0.09310	N	1	B	0.10296	0.003	B	0.15870	0.014	T	0.04294	-1.0962	10	0.29301	T	0.29	.	1.6956	0.02861	0.1627:0.2862:0.3977:0.1534	.	226	Q8NG85	OR2L3_HUMAN	Q	226	ENSP00000353044:H226Q	ENSP00000353044:H226Q	H	+	3	2	OR2L3	246291284	0.000000	0.05858	0.003000	0.11579	0.066000	0.16364	-0.842000	0.04354	0.175000	0.19841	0.462000	0.41574	CAC		0.463	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1	NM_001004687		37	100	1	0	6.18754e-15	0.00361	9.53459e-15	37	100				
OR2M2	391194	broad.mit.edu	37	1	248343895	248343895	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:248343895G>T	ENST00000359682.2	+	1	608	c.608G>T	c.(607-609)tGt>tTt	p.C203F		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	203						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TTCATCTGCTGTATAGTAATG	0.428																																							uc010pzf.1		NA																	0				ovary(3)|skin(1)	4						c.(607-609)TGT>TTT		olfactory receptor, family 2, subfamily M,							241.0	229.0	233.0					1																	248343895		2203	4300	6503	SO:0001583	missense	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248343895G>T	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.608G>T	1.37:g.248343895G>T	ENSP00000352710:p.Cys203Phe						p.C203F	NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	608	+	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)		203			Helical; Name=5; (Potential).		A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	c.608G>T	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	g	9.140	1.013718	0.19277	.	.	ENSG00000198601	ENST00000359682	T	0.33654	1.4	1.88	-3.69	0.04450	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33477	U	0.004880	T	0.49745	0.1575	M	0.77406	2.37	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.40308	-0.9570	10	0.87932	D	0	.	5.4542	0.16582	0.0:0.3591:0.3628:0.2781	.	203	Q96R28	OR2M2_HUMAN	F	203	ENSP00000352710:C203F	ENSP00000352710:C203F	C	+	2	0	OR2M2	246410518	0.000000	0.05858	0.036000	0.18154	0.056000	0.15407	-0.499000	0.06413	-0.349000	0.08274	-0.552000	0.04208	TGT		0.428	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		173	107	1	0	1.5993e-79	0.00361	2.99894e-79	173	107				
OR2M3	127062	broad.mit.edu	37	1	248366543	248366543	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:248366543C>A	ENST00000456743.1	+	1	212	c.174C>A	c.(172-174)ccC>ccA	p.P58P		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	58						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCCACACCCCCATGTACCTCC	0.547																																							uc010pzg.1		NA																	0				ovary(1)|skin(1)	2						c.(172-174)CCC>CCA		olfactory receptor, family 2, subfamily M,							352.0	326.0	335.0					1																	248366543		2203	4300	6503	SO:0001819	synonymous_variant	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248366543C>A		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.174C>A	1.37:g.248366543C>A							p.P58P	NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	174	+	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)		58			Helical; Name=2; (Potential).		B9EH06|Q6IEY0	Silent	SNP	ENST00000456743.1	37	c.174C>A	CCDS31107.1																																																																																				0.547	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		195	146	1	0	2.57275e-87	0.00361	4.84876e-87	195	146				
OR2M7	391196	broad.mit.edu	37	1	248487649	248487649	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:248487649G>A	ENST00000317965.2	-	1	250	c.222C>T	c.(220-222)atC>atT	p.I74I		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	74						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(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAGTGGTGCAGATGAGCATGA	0.493																																							uc010pzk.1		NA																	0				skin(2)	2						c.(220-222)ATC>ATT		olfactory receptor, family 2, subfamily M,							293.0	278.0	283.0					1																	248487649		2203	4300	6503	SO:0001819	synonymous_variant	391196				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248487649G>A	BK004486	CCDS31111.1	1q44	2012-08-09			ENSG00000177186	ENSG00000177186		"""GPCR / Class A : Olfactory receptors"""	19594	protein-coding gene	gene with protein product							Standard	NM_001004691		Approved		uc010pzk.2	Q8NG81	OTTHUMG00000040461	ENST00000317965.2:c.222C>T	1.37:g.248487649G>A							p.I74I	NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	222	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		74			Helical; Name=2; (Potential).		B2RNL0|Q6IEX6	Silent	SNP	ENST00000317965.2	37	c.222C>T	CCDS31111.1																																																																																				0.493	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097357.1	NM_001004691		169	135	0	0	0	0.00361	0	169	135				
TUBB8	347688	broad.mit.edu	37	10	94620	94620	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:94620C>A	ENST00000309812.4	-	3	274	c.212G>T	c.(211-213)gGc>gTc	p.G71V	TUBB8_ENST00000447903.2_5'UTR|TUBB8_ENST00000332708.5_Missense_Mutation_p.A35S|TUBB8_ENST00000413237.3_5'UTR	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	71					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		GTCCATGGTGCCCGGCTCCAG	0.701																																					Pancreas(192;2041 3010 9013 18103)	Pancreas(192;2041 3010 9013 18103)	uc001ifi.2		NA																	0				ovary(1)	1						c.(211-213)GGC>GTC		tubulin, beta 8 isoform 1							31.0	38.0	36.0					10																	94620		2200	4288	6488	SO:0001583	missense	347688				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr10:94620C>A	AF355127	CCDS7051.1	10p15.3	2014-05-06			ENSG00000173876			"""Tubulins"""	20773	protein-coding gene	gene with protein product	"""class VIII beta-tubulin"""						Standard	NM_177987		Approved	bA631M21.2	uc001ifi.2	Q3ZCM7	OTTHUMG00000174803	ENST00000309812.4:c.212G>T	10.37:g.94620C>A	ENSP00000311042:p.Gly71Val					TUBB8_uc009xhe.2_Intron|TUBB8_uc010pzs.1_5'UTR	p.G71V	NM_177987	NP_817124	Q3ZCM7	TBB8_HUMAN		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)	3	212	-		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)	71					Q5SQX9|Q8WZ78	Missense_Mutation	SNP	ENST00000309812.4	37	c.212G>T	CCDS7051.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.821|8.821	0.937550|0.937550	0.18206|0.18206	.|.	.|.	ENSG00000173876|ENSG00000173876	ENST00000332708|ENST00000328974;ENST00000309812	.|T	.|0.70631	.|-0.5	0.109|0.109	0.109|0.109	0.14578|0.14578	.|Tubulin/FtsZ, GTPase domain (4);	.|0.000000	.|0.64402	.|U	.|0.000018	D|D	0.86598|0.86598	0.5971|0.5971	H|H	0.98155|0.98155	4.16|4.16	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.76575	.|0.988	D|D	0.83597|0.83597	0.0126|0.0126	6|10	0.87932|0.87932	D|D	0|0	.|.	5.9913|5.9913	0.19465|0.19465	0.0:0.9994:0.0:6.0E-4|0.0:0.9994:0.0:6.0E-4	.|.	.|71	.|Q3ZCM7	.|TBB8_HUMAN	S|V	35|71	.|ENSP00000311042:G71V	ENSP00000371071:A35S|ENSP00000311042:G71V	A|G	-|-	1|2	0|0	RP11-631M21.2|RP11-631M21.2	84620|84620	0.998000|0.998000	0.40836|0.40836	0.012000|0.012000	0.15200|0.15200	0.012000|0.012000	0.07955|0.07955	5.262000|5.262000	0.65501|0.65501	0.181000|0.181000	0.19994|0.19994	0.184000|0.184000	0.17185|0.17185	GCA|GGC		0.701	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467795.1	NM_177987		20	41	1	0	1.42536e-11	0.004656	2.05378e-11	20	41				
TAF3	83860	broad.mit.edu	37	10	8006747	8006747	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:8006747G>T	ENST00000344293.5	+	3	1480	c.1274G>T	c.(1273-1275)aGa>aTa	p.R425I		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	425					maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						AGCCCTAAGAGAATTTCAGGC	0.493																																							uc010qbd.1		NA																	0				ovary(1)	1						c.(1273-1275)AGA>ATA		RNA polymerase II transcription factor TAFII140							85.0	84.0	84.0					10																	8006747		1855	4101	5956	SO:0001583	missense	83860				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding	g.chr10:8006747G>T	AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"""Zinc fingers, PHD-type"""	17303	protein-coding gene	gene with protein product		606576	"""TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"""			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.1274G>T	10.37:g.8006747G>T	ENSP00000340271:p.Arg425Ile						p.R425I	NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN			3	1274	+			425					Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Missense_Mutation	SNP	ENST00000344293.5	37	c.1274G>T	CCDS41487.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.813715	0.70912	.	.	ENSG00000165632	ENST00000344293	T	0.27720	1.65	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000001	T	0.57272	0.2042	M	0.76574	2.34	0.80722	D	1	D	0.76494	0.999	D	0.66196	0.942	T	0.58719	-0.7587	10	0.62326	D	0.03	-29.1037	19.6582	0.95853	0.0:0.0:1.0:0.0	.	425	Q5VWG9	TAF3_HUMAN	I	425	ENSP00000340271:R425I	ENSP00000340271:R425I	R	+	2	0	TAF3	8046753	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	7.038000	0.76537	2.659000	0.90383	0.650000	0.86243	AGA		0.493	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	NM_031923		30	54	1	0	5.43694e-19	0.005524	8.94328e-19	30	54				
FRMD4A	55691	broad.mit.edu	37	10	13735910	13735910	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:13735910G>A	ENST00000357447.2	-	15	1473	c.1105C>T	c.(1105-1107)Ctg>Ttg	p.L369L	FRMD4A_ENST00000342409.2_Silent_p.L385L|FRMD4A_ENST00000492155.1_5'UTR|FRMD4A_ENST00000378503.1_Silent_p.L369L|FRMD4A_ENST00000358621.4_Silent_p.L354L	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	369					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GAAGACAGCAGGCTGCCGCTG	0.652																																							uc001ims.2		NA																	0				ovary(1)|skin(1)|pancreas(1)	3						c.(1105-1107)CTG>TTG		FERM domain containing 4A							66.0	56.0	60.0					10																	13735910		2203	4300	6503	SO:0001819	synonymous_variant	55691					cytoplasm|cytoskeleton	binding	g.chr10:13735910G>A	AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.1105C>T	10.37:g.13735910G>A						FRMD4A_uc009xjf.1_Silent_p.L369L|FRMD4A_uc001imt.1_Silent_p.L402L|FRMD4A_uc001imu.1_Silent_p.L385L	p.L369L	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN			15	1457	-			369					A7E2Y3|Q5T377	Silent	SNP	ENST00000357447.2	37	c.1105C>T	CCDS7101.1																																																																																				0.652	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027		12	18	0	0	0	0.001855	0	12	18				
FAM171A1	221061	broad.mit.edu	37	10	15317910	15317910	+	Missense_Mutation	SNP	C	C	A	rs187780040		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:15317910C>A	ENST00000378116.4	-	3	368	c.362G>T	c.(361-363)cGc>cTc	p.R121L		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	121						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						AGTGGCAGAGCGTTCTGGAAG	0.348																																							uc001iob.2		NA																	0				ovary(2)|breast(1)|skin(1)	4						c.(361-363)CGC>CTC		hypothetical protein LOC221061 precursor							62.0	70.0	67.0					10																	15317910		2203	4300	6503	SO:0001583	missense	221061					integral to membrane		g.chr10:15317910C>A	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.362G>T	10.37:g.15317910C>A	ENSP00000367356:p.Arg121Leu						p.R121L	NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN			3	369	-			121			Extracellular (Potential).		D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP	ENST00000378116.4	37	c.362G>T	CCDS31154.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.820466	0.90873	.	.	ENSG00000148468	ENST00000378116;ENST00000378114;ENST00000396781;ENST00000455654	T;T	0.39592	1.07;1.07	5.41	5.41	0.78517	.	0.062470	0.64402	N	0.000005	T	0.67059	0.2853	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.70128	-0.4957	10	0.72032	D	0.01	-14.2128	19.2008	0.93711	0.0:1.0:0.0:0.0	.	121	Q5VUB5	F1711_HUMAN	L	121;121;122;121	ENSP00000367356:R121L;ENSP00000407796:R121L	ENSP00000367354:R121L	R	-	2	0	FAM171A1	15357916	1.000000	0.71417	0.897000	0.35233	0.759000	0.43091	7.215000	0.77966	2.516000	0.84829	0.585000	0.79938	CGC		0.348	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		8	39	1	0	2.27111e-07	0.001368	2.85232e-07	8	39				
ITGA8	8516	broad.mit.edu	37	10	15760770	15760770	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:15760770G>C	ENST00000378076.3	-	2	691	c.338C>G	c.(337-339)aCc>aGc	p.T113S		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	113					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CTTACTGGTGGTGTCAAACGG	0.597																																							uc001ioc.1		NA																	0				ovary(3)|lung(3)	6						c.(337-339)ACC>AGC		integrin, alpha 8 precursor							136.0	121.0	126.0					10																	15760770		2203	4300	6503	SO:0001583	missense	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15760770G>C	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.338C>G	10.37:g.15760770G>C	ENSP00000367316:p.Thr113Ser					ITGA8_uc010qcb.1_Missense_Mutation_p.T113S	p.T113S	NM_003638	NP_003629	P53708	ITA8_HUMAN			2	338	-			113			Extracellular (Potential).		B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	c.338C>G	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	G	2.365	-0.345724	0.05208	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	D	0.87571	-2.27	4.79	0.523	0.17060	.	0.394694	0.30159	N	0.010268	T	0.60818	0.2298	N	0.02721	-0.515	0.80722	D	1	B;B	0.20052	0.041;0.024	B;B	0.20384	0.029;0.013	T	0.54423	-0.8296	10	0.02654	T	1	.	4.0081	0.09610	0.0743:0.1896:0.3603:0.3759	.	113;113	F5H818;P53708	.;ITA8_HUMAN	S	113	ENSP00000367316:T113S	ENSP00000367316:T113S	T	-	2	0	ITGA8	15800776	0.999000	0.42202	0.998000	0.56505	0.977000	0.68977	0.564000	0.23563	-0.082000	0.12640	0.561000	0.74099	ACC		0.597	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		19	93	0	0	0	0.008871	0	19	93				
GPR158	57512	broad.mit.edu	37	10	25883266	25883266	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:25883266G>T	ENST00000376351.3	+	9	2297	c.1938G>T	c.(1936-1938)ctG>ctT	p.L646L	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	646					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TGTTGATGCTGTATTTTGCAC	0.323																																							uc001isj.2		NA																	0				ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						c.(1936-1938)CTG>CTT		G protein-coupled receptor 158 precursor							207.0	189.0	195.0					10																	25883266		2203	4300	6503	SO:0001819	synonymous_variant	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25883266G>T	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.1938G>T	10.37:g.25883266G>T						GPR158_uc001isk.2_Silent_p.L21L	p.L646L	NM_020752	NP_065803	Q5T848	GP158_HUMAN			9	1998	+			646			Helical; Name=7; (Potential).		Q6QR81|Q9ULT3	Silent	SNP	ENST00000376351.3	37	c.1938G>T	CCDS31166.1																																																																																				0.323	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		26	55	1	0	5.91797e-21	0.002445	9.9323e-21	26	55				
MYO3A	53904	broad.mit.edu	37	10	26417319	26417319	+	Splice_Site	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:26417319G>T	ENST00000265944.5	+	20	2280		c.e20-1		MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA						ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AATTCTTCTAGTGGGAATGGT	0.353																																							uc001isn.2		NA																	0				ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						c.e20-1		myosin IIIA							92.0	92.0	92.0					10																	26417319		2203	4299	6502	SO:0001630	splice_region_variant	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26417319G>T	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.2115-1G>T	10.37:g.26417319G>T						MYO3A_uc009xko.1_Splice_Site_p.S705_splice|MYO3A_uc009xkp.1_Splice_Site|MYO3A_uc009xkq.1_Intron	p.S705_splice	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN			20	2475	+								Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Splice_Site	SNP	ENST00000265944.5	37	c.2115_splice	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	G	13.00	2.105664	0.37145	.	.	ENSG00000095777	ENST00000265944	.	.	.	5.99	5.99	0.97316	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYO3A	26457325	1.000000	0.71417	0.931000	0.37212	0.111000	0.19643	7.925000	0.87563	2.840000	0.97914	0.655000	0.94253	.		0.353	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433	Intron	6	45	1	0	1.12685e-05	0.004482	1.32356e-05	6	45				
SVIL	6840	broad.mit.edu	37	10	29812817	29812817	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:29812817T>A	ENST00000355867.4	-	15	3478	c.2726A>T	c.(2725-2727)tAt>tTt	p.Y909F	SVIL_ENST00000535393.1_5'Flank|SVIL_ENST00000375398.2_Missense_Mutation_p.Y909F|SVIL_ENST00000375400.3_Missense_Mutation_p.Y483F	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	909					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				AGAAAACTTATAGTCAGTGGC	0.468																																							uc001iut.1		NA																	0				ovary(5)|upper_aerodigestive_tract(1)	6						c.(2725-2727)TAT>TTT		supervillin isoform 2							86.0	88.0	87.0					10																	29812817		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29812817T>A	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.2726A>T	10.37:g.29812817T>A	ENSP00000348128:p.Tyr909Phe					SVIL_uc010qdw.1_5'Flank|SVIL_uc001iuu.1_Missense_Mutation_p.Y483F	p.Y909F	NM_021738	NP_068506	O95425	SVIL_HUMAN			15	3479	-		Breast(68;0.103)	909					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.2726A>T	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	T	4.540	0.100334	0.08731	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867	T;T;T	0.11063	2.81;2.89;2.89	5.57	-0.964	0.10326	.	1.578160	0.03293	N	0.187973	T	0.06781	0.0173	L	0.28274	0.84	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.36114	-0.9761	9	.	.	.	0.0054	0.3757	0.00387	0.2852:0.1859:0.1276:0.4014	.	483;909	O95425-2;O95425	.;SVIL_HUMAN	F	483;909;909	ENSP00000364549:Y483F;ENSP00000364547:Y909F;ENSP00000348128:Y909F	.	Y	-	2	0	SVIL	29852823	0.001000	0.12720	0.000000	0.03702	0.478000	0.33099	0.854000	0.27791	0.382000	0.24878	0.533000	0.62120	TAT		0.468	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			9	46	0	0	0	0.006214	0	9	46				
ARHGAP12	94134	broad.mit.edu	37	10	32150432	32150432	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:32150432C>G	ENST00000344936.2	-	4	1073	c.839G>C	c.(838-840)cGt>cCt	p.R280P	ARHGAP12_ENST00000375245.4_Missense_Mutation_p.R280P|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.R280P|ARHGAP12_ENST00000375250.5_Missense_Mutation_p.R280P|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.R280P	NM_001270697.1|NM_018287.6	NP_001257626.1|NP_060757.4	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	280	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				morphogenesis of an epithelial sheet (GO:0002011)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				GTAATAGCAACGCCCTGAGCT	0.478																																							uc001ivz.1		NA																	0					0						c.(838-840)CGT>CCT		Rho GTPase activating protein 12							108.0	98.0	102.0					10																	32150432		2203	4300	6503	SO:0001583	missense	94134				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr10:32150432C>G	AY033594	CCDS7170.1, CCDS59214.1, CCDS59215.1, CCDS59216.1, CCDS73082.1	10p11.22	2013-01-10			ENSG00000165322	ENSG00000165322		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16348	protein-coding gene	gene with protein product		610577				11854031	Standard	NM_001270695		Approved	FLJ20737, FLJ10971, FLJ21785	uc001ivz.2	Q8IWW6	OTTHUMG00000017911	ENST00000344936.2:c.839G>C	10.37:g.32150432C>G	ENSP00000345808:p.Arg280Pro					ARHGAP12_uc001ivy.1_Missense_Mutation_p.R278P|ARHGAP12_uc009xls.2_Missense_Mutation_p.R278P|ARHGAP12_uc001iwb.1_Missense_Mutation_p.R278P|ARHGAP12_uc001iwc.1_Missense_Mutation_p.R278P|ARHGAP12_uc009xlq.1_Missense_Mutation_p.R278P|ARHGAP12_uc001iwd.1_Missense_Mutation_p.R278P|ARHGAP12_uc009xlr.1_Missense_Mutation_p.R278P	p.R280P	NM_018287	NP_060757	Q8IWW6	RHG12_HUMAN			4	1109	-		Prostate(175;0.0199)	280			WW 1.		B1ANY0|B1ANY1|B1ANY2|Q504X1|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76	Missense_Mutation	SNP	ENST00000344936.2	37	c.839G>C	CCDS7170.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.970571	0.92919	.	.	ENSG00000165322	ENST00000311380;ENST00000375250;ENST00000344936;ENST00000396144;ENST00000375245	D;D;D;D;D	0.87571	-2.27;-2.27;-2.27;-2.27;-2.27	5.93	5.93	0.95920	WW/Rsp5/WWP (4);	0.000000	0.85682	D	0.000000	D	0.95818	0.8639	H	0.94462	3.54	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.96185	0.9133	10	0.87932	D	0	.	20.3363	0.98740	0.0:1.0:0.0:0.0	.	280;280;280;280;280;280	Q1RLN5;B3KR88;Q8IWW6-2;Q504X1;Q8IWW6;Q8IWW6-3	.;.;.;.;RHG12_HUMAN;.	P	280	ENSP00000310984:R280P;ENSP00000364399:R280P;ENSP00000345808:R280P;ENSP00000379448:R280P;ENSP00000364394:R280P	ENSP00000310984:R280P	R	-	2	0	ARHGAP12	32190438	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.171000	0.77595	2.814000	0.96858	0.563000	0.77884	CGT		0.478	ARHGAP12-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047465.1			6	22	0	0	0	0.001168	0	6	22				
NRP1	8829	broad.mit.edu	37	10	33486617	33486617	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:33486617T>A	ENST00000265371.4	-	13	2410	c.1885A>T	c.(1885-1887)Aca>Tca	p.T629S	NRP1_ENST00000395995.1_Missense_Mutation_p.T629S|NRP1_ENST00000374875.1_Missense_Mutation_p.T441S|NRP1_ENST00000374867.2_Missense_Mutation_p.T629S|NRP1_ENST00000374822.4_Missense_Mutation_p.T629S|NRP1_ENST00000374821.5_Missense_Mutation_p.T594S			O14786	NRP1_HUMAN	neuropilin 1	629					angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	GGCTTTTCTGTGGCCAGCACA	0.423																																					Melanoma(104;886 1489 44640 45944 51153)	Melanoma(104;886 1489 44640 45944 51153)	uc001iwx.3		NA																	0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(1885-1887)ACA>TCA		neuropilin 1 isoform a	Palifermin(DB00039)|Pegaptanib(DB04895)						206.0	170.0	182.0					10																	33486617		2203	4300	6503	SO:0001583	missense	8829				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity	g.chr10:33486617T>A	AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"""CD molecules"""	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.1885A>T	10.37:g.33486617T>A	ENSP00000265371:p.Thr629Ser					NRP1_uc001iwv.3_Missense_Mutation_p.T629S|NRP1_uc009xlz.2_Missense_Mutation_p.T622S|NRP1_uc001iww.3_Missense_Mutation_p.T441S|NRP1_uc001iwy.3_Missense_Mutation_p.T622S|NRP1_uc001iwz.2_Missense_Mutation_p.T629S|NRP1_uc001ixa.2_Missense_Mutation_p.T594S	p.T629S	NM_003873	NP_003864	O14786	NRP1_HUMAN			12	2408	-			629			Extracellular (Potential).		B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Missense_Mutation	SNP	ENST00000265371.4	37	c.1885A>T	CCDS7177.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.231459	0.79688	.	.	ENSG00000099250	ENST00000265371;ENST00000374875;ENST00000374867;ENST00000395995;ENST00000374828;ENST00000374814;ENST00000374822;ENST00000374821	D;D;D;D;D;D	0.93953	-2.14;-3.32;-2.14;-2.15;-2.4;-2.58	5.93	5.93	0.95920	.	0.046397	0.85682	D	0.000000	D	0.93350	0.7880	N	0.14661	0.345	0.80722	D	1	P;D;D;D;P;B;B	0.71674	0.842;0.997;0.998;0.997;0.842;0.214;0.031	B;D;D;D;B;B;B	0.76071	0.169;0.97;0.987;0.97;0.169;0.056;0.015	D	0.94957	0.8105	10	0.87932	D	0	-19.1657	16.3943	0.83563	0.0:0.0:0.0:1.0	.	622;594;629;629;629;441;629	A8K9V7;Q5T7F1;O14786-2;Q68DN3;O14786;Q5JWQ6;E9PEP6	.;.;.;.;NRP1_HUMAN;.;.	S	629;441;629;629;52;100;629;594	ENSP00000265371:T629S;ENSP00000364009:T441S;ENSP00000364001:T629S;ENSP00000379317:T629S;ENSP00000363955:T629S;ENSP00000363954:T594S	ENSP00000265371:T629S	T	-	1	0	NRP1	33526623	1.000000	0.71417	1.000000	0.80357	0.493000	0.33554	5.505000	0.66981	2.281000	0.76405	0.533000	0.62120	ACA		0.423	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051203.2			8	28	0	0	0	0.004482	0	8	28				
LRRC18	474354	broad.mit.edu	37	10	50121979	50121979	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:50121979G>T	ENST00000374160.3	-	1	298	c.222C>A	c.(220-222)aaC>aaA	p.N74K	RP11-523O18.7_ENST00000430438.1_RNA|WDFY4_ENST00000325239.5_Intron|WDFY4_ENST00000413659.2_Intron|LRRC18_ENST00000298124.3_Missense_Mutation_p.N74K	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	74						cytoplasm (GO:0005737)				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GCCACCGGAGGTTCTGGAACT	0.547																																							uc001jhd.2		NA																	0				ovary(1)|pancreas(1)	2						c.(220-222)AAC>AAA		leucine rich repeat containing 18							83.0	73.0	76.0					10																	50121979		2203	4300	6503	SO:0001583	missense	474354					cytoplasm		g.chr10:50121979G>T	AY358137	CCDS31197.1	10q11.23	2011-02-10			ENSG00000165383	ENSG00000165383			23199	protein-coding gene	gene with protein product							Standard	NM_001006939		Approved	UNQ933, MGC34773, UNQ9338, VKGE9338	uc001jhd.3	Q8N456	OTTHUMG00000018182	ENST00000374160.3:c.222C>A	10.37:g.50121979G>T	ENSP00000363275:p.Asn74Lys					WDFY4_uc001jha.3_Intron|LRRC18_uc001jhe.1_Missense_Mutation_p.N74K	p.N74K	NM_001006939	NP_001006940	Q8N456	LRC18_HUMAN			1	302	-			74			LRR 3.		Q6UY02	Missense_Mutation	SNP	ENST00000374160.3	37	c.222C>A	CCDS31197.1	.	.	.	.	.	.	.	.	.	.	G	7.200	0.593362	0.13875	.	.	ENSG00000165383	ENST00000374160;ENST00000298124	T;T	0.14022	2.54;2.54	6.07	0.491	0.16867	.	0.234432	0.48286	D	0.000189	T	0.08268	0.0206	L	0.35414	1.06	0.42219	D	0.991843	B	0.28419	0.211	B	0.25614	0.062	T	0.32188	-0.9916	9	.	.	.	.	7.1444	0.25575	0.4092:0.0:0.4803:0.1105	.	74	Q8N456	LRC18_HUMAN	K	74	ENSP00000363275:N74K;ENSP00000298124:N74K	.	N	-	3	2	LRRC18	49791985	1.000000	0.71417	0.989000	0.46669	0.954000	0.61252	0.585000	0.23879	0.155000	0.19261	-0.137000	0.14449	AAC		0.547	LRRC18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047964.1	NM_001006939		4	37	1	0	0.00024832	0.009096	0.000277424	4	37				
DRGX	644168	broad.mit.edu	37	10	50574416	50574416	+	Silent	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:50574416C>G	ENST00000374139.2	-	6	547	c.537G>C	c.(535-537)ctG>ctC	p.L179L	DRGX_ENST00000434016.1_Silent_p.L184L			A6NNA5	DRGX_HUMAN	dorsal root ganglia homeobox	179					axon guidance (GO:0007411)|detection of chemical stimulus (GO:0009593)|detection of temperature stimulus (GO:0016048)|dorsal spinal cord development (GO:0021516)|neuron migration (GO:0001764)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of mechanical stimulus (GO:0050954)|transcription, DNA-templated (GO:0006351)|trigeminal nerve development (GO:0021559)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						AGCAAGAGCACAGTGGGCCCC	0.587																																							uc010qgq.1		NA																	0					0						c.(550-552)CTG>CTC		dorsal root ganglia homeobox							46.0	51.0	49.0					10																	50574416		2016	4188	6204	SO:0001819	synonymous_variant	644168				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:50574416C>G		CCDS44388.1, CCDS44388.2	10q11.23	2011-06-20	2007-07-26	2007-07-26	ENSG00000165606	ENSG00000165606		"""Homeoboxes / PRD class"""	21536	protein-coding gene	gene with protein product	"""paired-like homeodomain trancription factor DRG11"""	606701	"""paired related homeobox-like 1"""	PRRXL1		7496632	Standard	NM_001276451		Approved	DRG11	uc021pqd.2	A6NNA5	OTTHUMG00000018192	ENST00000374139.2:c.537G>C	10.37:g.50574416C>G							p.L184L	NM_001080520	NP_001073989	A6NNA5	DRGX_HUMAN			6	552	-			184						Silent	SNP	ENST00000374139.2	37	c.552G>C																																																																																					0.587	DRGX-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047987.2	XM_060970		7	25	0	0	0	0.00308	0	7	25				
CHAT	1103	broad.mit.edu	37	10	50827924	50827924	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:50827924C>A	ENST00000337653.2	+	3	694	c.541C>A	c.(541-543)Cag>Aag	p.Q181K	CHAT_ENST00000460699.1_3'UTR|CHAT_ENST00000351556.3_Missense_Mutation_p.Q63K|CHAT_ENST00000455728.2_Missense_Mutation_p.Q63K|CHAT_ENST00000395562.2_Missense_Mutation_p.Q99K|CHAT_ENST00000395559.2_Missense_Mutation_p.Q63K|CHAT_ENST00000339797.1_Missense_Mutation_p.Q63K	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	181					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	GACCCTGCAGCAGAAACTCCT	0.617																																							uc001jhz.2		NA																	0				central_nervous_system(3)	3						c.(541-543)CAG>AAG		choline acetyltransferase isoform 2	Choline(DB00122)						25.0	25.0	25.0					10																	50827924		2203	4300	6503	SO:0001583	missense	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50827924C>A	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.541C>A	10.37:g.50827924C>A	ENSP00000337103:p.Gln181Lys					CHAT_uc001jhv.1_Missense_Mutation_p.Q63K|CHAT_uc001jhx.1_Missense_Mutation_p.Q63K|CHAT_uc001jhy.1_Missense_Mutation_p.Q63K|CHAT_uc001jia.2_Missense_Mutation_p.Q63K|CHAT_uc010qgs.1_Missense_Mutation_p.Q63K	p.Q181K	NM_020549	NP_065574	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	3	694	+		all_neural(218;0.107)	181					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	ENST00000337653.2	37	c.541C>A	CCDS7232.1	.	.	.	.	.	.	.	.	.	.	C	8.560	0.877593	0.17395	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	D;D;D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41;-2.41;-2.41	5.09	3.18	0.36537	.	0.398217	0.27691	N	0.018251	T	0.71753	0.3377	N	0.05230	-0.09	0.27260	N	0.958641	B;B	0.09022	0.001;0.002	B;B	0.06405	0.002;0.002	T	0.55471	-0.8136	10	0.05525	T	0.97	-7.8544	10.0528	0.42225	0.1418:0.5669:0.2913:0.0	.	63;181	F8W8I2;P28329	.;CLAT_HUMAN	K	63;63;63;181;99;63	ENSP00000343486:Q63K;ENSP00000345878:Q63K;ENSP00000378926:Q63K;ENSP00000337103:Q181K;ENSP00000378929:Q99K;ENSP00000390521:Q63K	ENSP00000337103:Q181K	Q	+	1	0	CHAT	50497930	1.000000	0.71417	0.997000	0.53966	0.785000	0.44390	1.692000	0.37731	0.511000	0.28236	0.462000	0.41574	CAG		0.617	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		4	11	1	0	1.23904e-05	0.000602	1.44506e-05	4	11				
PRKG1	5592	broad.mit.edu	37	10	54053613	54053613	+	Missense_Mutation	SNP	G	G	T	rs142375882		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:54053613G>T	ENST00000401604.2	+	18	2163	c.1969G>T	c.(1969-1971)Gat>Tat	p.D657Y	PRKG1_ENST00000373975.2_Missense_Mutation_p.D375Y|PRKG1_ENST00000373980.4_Missense_Mutation_p.D672Y|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000373985.1_Missense_Mutation_p.D645Y|PRKG1-AS1_ENST00000452247.2_RNA			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	657	AGC-kinase C-terminal.				actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		TGAGGACAACGATGAACCACC	0.398																																							uc001jjm.2		NA																	0				lung(2)|stomach(1)|ovary(1)|central_nervous_system(1)|skin(1)	6						c.(1969-1971)GAT>TAT		protein kinase, cGMP-dependent, type I isoform							163.0	148.0	153.0					10																	54053613		2203	4300	6503	SO:0001583	missense	5592				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr10:54053613G>T		CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.1969G>T	10.37:g.54053613G>T	ENSP00000384200:p.Asp657Tyr					PRKG1_uc001jjo.2_Missense_Mutation_p.D672Y|PRKG1_uc009xow.1_Missense_Mutation_p.D375Y|uc001jjq.1_Intron	p.D657Y	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)	18	2163	+		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)	657			AGC-kinase C-terminal.		A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Missense_Mutation	SNP	ENST00000401604.2	37	c.1969G>T	CCDS44399.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.042126	0.75732	.	.	ENSG00000185532	ENST00000401604;ENST00000373985;ENST00000373980;ENST00000332193;ENST00000373975	T;T;T	0.07908	3.15;3.15;3.15	5.99	5.99	0.97316	AGC-kinase, C-terminal (2);	0.051359	0.85682	D	0.000000	T	0.23210	0.0561	L	0.58925	1.835	0.80722	D	1	P;P;P	0.52170	0.951;0.903;0.951	P;P;P	0.55965	0.732;0.788;0.732	T	0.00005	-1.2536	10	0.48119	T	0.1	-21.7281	20.0728	0.97731	0.0:0.0:1.0:0.0	.	375;672;657	B3KSF3;Q13976-2;Q13976	.;.;KGP1_HUMAN	Y	657;645;672;375;269	ENSP00000384200:D657Y;ENSP00000363097:D645Y;ENSP00000363092:D672Y	ENSP00000327642:D375Y	D	+	1	0	PRKG1	53723619	1.000000	0.71417	0.675000	0.29917	0.983000	0.72400	9.476000	0.97823	2.840000	0.97914	0.655000	0.94253	GAT		0.398	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				20	41	1	0	1.85244e-09	0.00333	2.5179e-09	20	41				
MBL2	4153	broad.mit.edu	37	10	54531325	54531325	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:54531325G>T	ENST00000373968.3	-	1	135	c.71C>A	c.(70-72)aCc>aAc	p.T24N		NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	24	Cys-rich.		T -> A (in Chinese). {ECO:0000269|Ref.6}.		acute-phase response (GO:0006953)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|killing by host of symbiont cells (GO:0051873)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of viral process (GO:0048525)|opsonization (GO:0008228)|positive regulation of phagocytosis (GO:0050766)|response to oxidative stress (GO:0006979)	cell surface (GO:0009986)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium-dependent protein binding (GO:0048306)|mannose binding (GO:0005537)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						ATCCTCACAGGTCACAGTTTC	0.547																																							uc001jjt.2		NA																	0				ovary(1)	1						c.(70-72)ACC>AAC		soluble mannose-binding lectin precursor							104.0	94.0	98.0					10																	54531325		2203	4300	6503	SO:0001583	missense	4153				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding	g.chr10:54531325G>T	AF360991	CCDS7247.1	10q11.2	2014-09-17	2011-02-02		ENSG00000165471	ENSG00000165471		"""Collectins"""	6922	protein-coding gene	gene with protein product		154545	"""mannose-binding lectin (protein C) 2, soluble (opsonic defect)"""	MBL		1675710, 1672848	Standard	NM_000242		Approved	COLEC1	uc001jjt.3	P11226	OTTHUMG00000150270	ENST00000373968.3:c.71C>A	10.37:g.54531325G>T	ENSP00000363079:p.Thr24Asn						p.T24N	NM_000242	NP_000233	P11226	MBL2_HUMAN			1	136	-			24		T -> A (in Chinese).	Cys-rich.		Q4VB12|Q4VB13|Q4VB14|Q5SQS3|Q86SI4|Q96KE4|Q96TF7|Q96TF8|Q96TF9	Missense_Mutation	SNP	ENST00000373968.3	37	c.71C>A	CCDS7247.1	.	.	.	.	.	.	.	.	.	.	G	9.811	1.183084	0.21870	.	.	ENSG00000165471	ENST00000373968	T	0.71698	-0.59	4.54	-6.71	0.01760	.	1.990680	0.01968	N	0.043859	T	0.45538	0.1347	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.32268	-0.9913	10	0.16420	T	0.52	1.59	0.047	0.00010	0.3056:0.196:0.1783:0.3201	.	24	P11226	MBL2_HUMAN	N	24	ENSP00000363079:T24N	ENSP00000363079:T24N	T	-	2	0	MBL2	54201331	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-1.646000	0.01998	-1.557000	0.01692	0.655000	0.94253	ACC		0.547	MBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048115.1	NM_000242		12	14	1	0	7.93312e-07	0.00245	9.78967e-07	12	14				
PCDH15	65217	broad.mit.edu	37	10	55566680	55566680	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:55566680G>T	ENST00000373965.2	-	36	5108	c.4714C>A	c.(4714-4716)Cct>Act	p.P1572T	PCDH15_ENST00000414778.1_Missense_Mutation_p.P1569T	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	423					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)				AGTCGAACAGGGGAAGCAACT	0.458										HNSCC(58;0.16)																													uc010qhq.1		NA																	0				pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(4708-4710)CCT>ACT		protocadherin 15 isoform CD3-1 precursor							142.0	133.0	135.0					10																	55566680		1568	3581	5149	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.chr10:55566680G>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	ENST00000373965.2:c.4714C>A	10.37:g.55566680G>T	ENSP00000363076:p.Pro1572Thr	HNSCC(58;0.16)				PCDH15_uc010qhr.1_Missense_Mutation_p.P1565T	p.P1570T	NM_001142771	NP_001136243	Q96QU1	PCD15_HUMAN			36	5103	-		Melanoma(3;0.117)|Lung SC(717;0.238)	423			Cadherin 4.|Extracellular (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000373965.2	37	c.4708C>A		.	.	.	.	.	.	.	.	.	.	G	12.86	2.063319	0.36373	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746	D;D	0.86030	-2.04;-2.06	5.86	5.86	0.93980	.	.	.	.	.	D	0.91831	0.7415	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.91851	0.5491	9	0.87932	D	0	.	19.797	0.96490	0.0:0.0:1.0:0.0	.	1563;1569	C6ZEF7;C9J4F3	.;.	T	1572;1569;1565	ENSP00000363076:P1572T;ENSP00000410304:P1569T	ENSP00000363076:P1572T	P	-	1	0	PCDH15	55236686	1.000000	0.71417	0.876000	0.34364	0.021000	0.10359	9.476000	0.97823	2.776000	0.95493	0.655000	0.94253	CCT		0.458	PCDH15-008	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000291336.1	NM_033056		28	52	1	0	5.77227e-19	0.008361	9.48438e-19	28	52				
BICC1	80114	broad.mit.edu	37	10	60573602	60573602	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:60573602T>C	ENST00000373886.3	+	18	2393	c.2389T>C	c.(2389-2391)Tcc>Ccc	p.S797P	BICC1_ENST00000263103.1_Missense_Mutation_p.S423P	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	797					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						CTCATCCATGTCCCTTTCACG	0.458																																							uc001jki.1		NA																	0				ovary(2)|lung(1)|skin(1)	4						c.(2389-2391)TCC>CCC		bicaudal C homolog 1							141.0	132.0	135.0					10																	60573602		2203	4300	6503	SO:0001583	missense	80114				multicellular organismal development		RNA binding	g.chr10:60573602T>C	AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"""Sterile alpha motif (SAM) domain containing"""	19351	protein-coding gene	gene with protein product		614295	"""bicaudal C homolog 1 (Drosophila)"""				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.2389T>C	10.37:g.60573602T>C	ENSP00000362993:p.Ser797Pro					BICC1_uc001jkj.1_Missense_Mutation_p.S438P	p.S797P	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN			18	2389	+			797						Missense_Mutation	SNP	ENST00000373886.3	37	c.2389T>C	CCDS31206.1	.	.	.	.	.	.	.	.	.	.	T	13.66	2.302586	0.40795	.	.	ENSG00000122870	ENST00000373886;ENST00000263103	T;T	0.49432	1.62;0.78	5.9	5.9	0.94986	.	0.052274	0.85682	D	0.000000	T	0.57242	0.2040	L	0.50333	1.59	0.48288	D	0.999622	D;D	0.71674	0.998;0.966	P;P	0.57911	0.829;0.598	T	0.53114	-0.8484	10	0.30078	T	0.28	-11.6302	14.8955	0.70642	0.0:0.0:0.0:1.0	.	717;797	E7EU62;Q9H694	.;BICC1_HUMAN	P	797;423	ENSP00000362993:S797P;ENSP00000263103:S423P	ENSP00000263103:S423P	S	+	1	0	BICC1	60243608	1.000000	0.71417	0.990000	0.47175	0.778000	0.44026	4.626000	0.61269	2.254000	0.74563	0.460000	0.39030	TCC		0.458	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2	NM_025044		29	71	0	0	0	0.004289	0	29	71				
HKDC1	80201	broad.mit.edu	37	10	71020921	71020921	+	Missense_Mutation	SNP	A	A	C	rs373020719	byFrequency	TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:71020921A>C	ENST00000354624.5	+	16	2376	c.2243A>C	c.(2242-2244)tAc>tCc	p.Y748S	HKDC1_ENST00000395086.2_Missense_Mutation_p.Y748S	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	748	Hexokinase type-2 2.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						AGTGGGATGTACTTGGGGGAG	0.542													A|||	2	0.000399361	0.0	0.0	5008	,	,		20716	0.002		0.0	False		,,,				2504	0.0						uc001jpf.3		NA																	0				ovary(4)|skin(1)	5						c.(2242-2244)TAC>TCC		hexokinase domain containing 1							114.0	91.0	99.0					10																	71020921		2203	4300	6503	SO:0001583	missense	80201				glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity	g.chr10:71020921A>C		CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.2243A>C	10.37:g.71020921A>C	ENSP00000346643:p.Tyr748Ser					HKDC1_uc010qje.1_Missense_Mutation_p.Y611S|HKDC1_uc009xqb.2_RNA	p.Y748S	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN			16	2376	+			748					B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Missense_Mutation	SNP	ENST00000354624.5	37	c.2243A>C	CCDS7288.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.464029	0.84425	.	.	ENSG00000156510	ENST00000354624;ENST00000395086	D;D	0.99429	-5.89;-5.89	4.66	4.66	0.58398	Hexokinase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99764	0.9904	H	0.99117	4.435	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.96830	0.9610	10	0.87932	D	0	-16.1235	14.2344	0.65916	1.0:0.0:0.0:0.0	.	748	Q2TB90	HKDC1_HUMAN	S	748	ENSP00000346643:Y748S;ENSP00000378521:Y748S	ENSP00000346643:Y748S	Y	+	2	0	HKDC1	70690927	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.139000	0.94554	1.949000	0.56562	0.402000	0.26972	TAC		0.542	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1	NM_025130		9	38	0	0	0	0.008291	0	9	38				
ECD	11319	broad.mit.edu	37	10	74890529	74890529	+	IGR	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:74890529G>A	ENST00000372979.4	-	0	3069				NUDT13_ENST00000537969.1_Silent_p.L112L|NUDT13_ENST00000544879.1_Silent_p.L183L|NUDT13_ENST00000488223.1_3'UTR|NUDT13_ENST00000372997.3_3'UTR|NUDT13_ENST00000349051.5_Silent_p.L220L|NUDT13_ENST00000357321.4_Silent_p.L309L	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)						cell proliferation (GO:0008283)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of glycolytic process (GO:0006110)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					CCACAGCCCTGAAGAGAAAGG	0.493																																							uc001jtj.2		NA																	0					0						c.(925-927)CTG>CTA		nudix-type motif 13							60.0	62.0	61.0					10																	74890529		2203	4300	6503	SO:0001628	intergenic_variant	25961						hydrolase activity|metal ion binding	g.chr10:74890529G>A	BC000721	CCDS7321.1, CCDS44433.1, CCDS44434.1	10q22.3	2006-02-07				ENSG00000122882			17029	protein-coding gene	gene with protein product						9928932, 15128659	Standard	NM_007265		Approved	hSGT1, GCR2	uc001jtn.3	O95905			10.37:g.74890529G>A						NUDT13_uc010qkc.1_Silent_p.L183L|NUDT13_uc010qkd.1_Silent_p.L112L|NUDT13_uc009xqw.2_RNA|NUDT13_uc001jtk.2_3'UTR|NUDT13_uc010qke.1_Silent_p.L112L|NUDT13_uc001jtl.2_Silent_p.L220L	p.L309L	NM_015901	NP_056985	Q86X67	NUD13_HUMAN			9	1052	+	Prostate(51;0.0119)		309			Nudix hydrolase.		C9JX46|E9PAW8	Silent	SNP	ENST00000372979.4	37	c.927G>A	CCDS7321.1																																																																																				0.493	ECD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048606.1	NM_007265		3	27	0	0	0	0.004672	0	3	27				
KCNMA1	3778	broad.mit.edu	37	10	78868308	78868308	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:78868308G>T	ENST00000286628.8	-	9	1153	c.1154C>A	c.(1153-1155)cCt>cAt	p.P385H	KCNMA1_ENST00000354353.5_Missense_Mutation_p.P385H|KCNMA1_ENST00000406533.3_Missense_Mutation_p.P385H|KCNMA1_ENST00000404771.3_Missense_Mutation_p.P385H|KCNMA1_ENST00000286627.5_Missense_Mutation_p.P385H|KCNMA1_ENST00000404857.1_Missense_Mutation_p.P385H|KCNMA1_ENST00000372440.1_Missense_Mutation_p.P385H|KCNMA1_ENST00000372443.1_Missense_Mutation_p.P385H	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	385					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	TATGATTTCAGGGACGTAGCT	0.488																																							uc001jxn.2		NA																	0				pancreas(2)|ovary(1)	3						c.(1153-1155)CCT>CAT		large conductance calcium-activated potassium	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)						99.0	99.0	99.0					10																	78868308		2203	4300	6503	SO:0001583	missense	3778				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:78868308G>T	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.1154C>A	10.37:g.78868308G>T	ENSP00000286628:p.Pro385His					KCNMA1_uc001jxj.2_Missense_Mutation_p.P385H|KCNMA1_uc001jxk.1_Intron|KCNMA1_uc009xrt.1_Missense_Mutation_p.P205H|KCNMA1_uc001jxl.1_Missense_Mutation_p.P39H|KCNMA1_uc001jxo.2_Missense_Mutation_p.P385H|KCNMA1_uc001jxm.2_Missense_Mutation_p.P385H|KCNMA1_uc001jxq.2_Missense_Mutation_p.P385H	p.P385H	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		9	1331	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		385			Helical; Name=Segment S6; (Potential).		F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	ENST00000286628.8	37	c.1154C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.1|25.1	4.601865|4.601865	0.87055|0.87055	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372403|ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708	.|D;D;D;D;D;D;D;D;D	.|0.97480	.|-4.4;-4.4;-4.4;-4.4;-4.4;-4.4;-4.4;-4.4;-4.4	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98049|0.98049	0.9357|0.9357	L|L	0.52905|0.52905	1.665|1.665	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D;D	.|0.97110	.|1.0;0.996;0.997;0.999;0.997;0.999;0.997	D|D	0.98708|0.98708	1.0703|1.0703	5|10	.|0.87932	.|D	.|0	-8.4608|-8.4608	20.3248|20.3248	0.98698|0.98698	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|385;385;385;385;385;167;385	.|Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;Q5SVJ7	.|.;.;.;KCMA1_HUMAN;.;.;.	M|H	336|385;322;320;359;322;385;385;359;385;385;385;167	.|ENSP00000361517:P385H;ENSP00000361485:P322H;ENSP00000361514:P320H;ENSP00000396608:P359H;ENSP00000361520:P385H;ENSP00000286627:P385H;ENSP00000385552:P385H;ENSP00000346321:P385H;ENSP00000385806:P385H	.|ENSP00000286627:P385H	L|P	-|-	1|2	2|0	KCNMA1|KCNMA1	78538314|78538314	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.444000|9.444000	0.97578|0.97578	2.818000|2.818000	0.97014|0.97014	0.655000|0.655000	0.94253|0.94253	CTG|CCT		0.488	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247		21	37	1	0	1.10513e-12	0.002299	1.63842e-12	21	37				
DLG5	9231	broad.mit.edu	37	10	79576327	79576327	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:79576327C>A	ENST00000372391.2	-	20	4012	c.4007G>T	c.(4006-4008)gGg>gTg	p.G1336V	DLG5_ENST00000372388.2_Missense_Mutation_p.G996V|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1336					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TCTCCGCTCCCCGAGGGACGC	0.627																																							uc001jzk.2		NA																	0				ovary(5)|breast(3)	8						c.(4006-4008)GGG>GTG		discs large homolog 5							158.0	135.0	143.0					10																	79576327		2203	4300	6503	SO:0001583	missense	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79576327C>A	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.4007G>T	10.37:g.79576327C>A	ENSP00000361467:p.Gly1336Val					DLG5_uc001jzi.2_Missense_Mutation_p.G91V|DLG5_uc001jzj.2_Missense_Mutation_p.G751V|DLG5_uc009xru.1_RNA|DLG5_uc001jzl.3_Missense_Mutation_p.G940V	p.G1336V	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		20	4077	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		1336					A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	c.4007G>T	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	C	19.55	3.848198	0.71603	.	.	ENSG00000151208	ENST00000372391;ENST00000424842;ENST00000372388	T;T;T	0.53206	0.63;0.63;0.63	5.8	5.8	0.92144	PDZ/DHR/GLGF (1);	0.000000	0.39834	N	0.001258	T	0.56411	0.1983	L	0.39898	1.24	0.80722	D	1	D;P;P	0.62365	0.991;0.822;0.888	P;P;P	0.58210	0.835;0.492;0.775	T	0.41928	-0.9481	10	0.20519	T	0.43	.	20.063	0.97692	0.0:1.0:0.0:0.0	.	1226;1336;996	Q8TDM6-4;Q8TDM6;Q8TDM6-2	.;DLG5_HUMAN;.	V	1336;297;996	ENSP00000361467:G1336V;ENSP00000394797:G297V;ENSP00000361464:G996V	ENSP00000361464:G996V	G	-	2	0	DLG5	79246333	1.000000	0.71417	0.999000	0.59377	0.846000	0.48090	4.607000	0.61133	2.735000	0.93741	0.655000	0.94253	GGG		0.627	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			27	83	1	0	8.88839e-20	0.002096	1.46856e-19	27	83				
DLG5	9231	broad.mit.edu	37	10	79613233	79613233	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:79613233C>A	ENST00000372391.2	-	5	748	c.743G>T	c.(742-744)aGg>aTg	p.R248M	DLG5_ENST00000372388.2_Missense_Mutation_p.R248M	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	248					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			ATTCTCCCGCCTCAGCATGTC	0.617																																							uc001jzk.2		NA																	0				ovary(5)|breast(3)	8						c.(742-744)AGG>ATG		discs large homolog 5							50.0	37.0	42.0					10																	79613233		2203	4300	6503	SO:0001583	missense	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79613233C>A	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.743G>T	10.37:g.79613233C>A	ENSP00000361467:p.Arg248Met					DLG5_uc001jzj.2_Missense_Mutation_p.R3M|DLG5_uc009xru.1_RNA	p.R248M	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		5	813	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		248					A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	c.743G>T	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	C	18.75	3.691197	0.68271	.	.	ENSG00000151208	ENST00000372391;ENST00000372388	T;T	0.06142	3.34;3.35	4.6	1.63	0.23807	.	0.000000	0.39210	N	0.001433	T	0.13713	0.0332	M	0.62723	1.935	0.27805	N	0.942335	D;B	0.76494	0.999;0.207	P;B	0.61201	0.885;0.107	T	0.04467	-1.0949	10	0.72032	D	0.01	.	3.9845	0.09509	0.1788:0.5321:0.0:0.2891	.	248;248	Q8TDM6;Q8TDM6-2	DLG5_HUMAN;.	M	248	ENSP00000361467:R248M;ENSP00000361464:R248M	ENSP00000361464:R248M	R	-	2	0	DLG5	79283239	1.000000	0.71417	0.994000	0.49952	0.999000	0.98932	1.927000	0.40094	0.459000	0.27016	0.655000	0.94253	AGG		0.617	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			6	18	1	0	0.000274275	0.004482	0.000304364	6	18				
ANXA11	311	broad.mit.edu	37	10	81930597	81930597	+	Missense_Mutation	SNP	T	T	A	rs539258237		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:81930597T>A	ENST00000438331.1	-	5	612	c.130A>T	c.(130-132)Acc>Tcc	p.T44S	ANXA11_ENST00000537102.1_Missense_Mutation_p.T11S|ANXA11_ENST00000422982.3_Missense_Mutation_p.T44S|ANXA11_ENST00000360615.4_Missense_Mutation_p.T44S|ANXA11_ENST00000372231.3_Missense_Mutation_p.T44S|ANXA11_ENST00000265447.4_Missense_Mutation_p.T44S|ANXA11_ENST00000535999.1_Missense_Mutation_p.T44S|ANXA11_ENST00000463657.1_5'Flank	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	44					cytokinesis, completion of separation (GO:0007109)|phagocytosis (GO:0006909)|response to calcium ion (GO:0051592)	azurophil granule (GO:0042582)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|specific granule (GO:0042581)|spindle (GO:0005819)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|MHC class II protein complex binding (GO:0023026)|phosphatidylethanolamine binding (GO:0008429)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			CCCGCATAGGTGGCCACGTTA	0.632																																							uc001kbq.1		NA																	0				ovary(1)	1						c.(130-132)ACC>TCC		annexin A11							78.0	67.0	71.0					10																	81930597		2203	4300	6503	SO:0001583	missense	311				cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding	g.chr10:81930597T>A	L19605	CCDS7364.1, CCDS60576.1	10q22.3	2005-11-09			ENSG00000122359	ENSG00000122359		"""Annexins"""	535	protein-coding gene	gene with protein product		602572		ANX11		7508441, 9503022	Standard	NM_001157		Approved		uc001kbt.1	P50995	OTTHUMG00000018604	ENST00000438331.1:c.130A>T	10.37:g.81930597T>A	ENSP00000398610:p.Thr44Ser					ANXA11_uc010qlx.1_Missense_Mutation_p.T144S|ANXA11_uc001kbr.1_Missense_Mutation_p.T44S|ANXA11_uc001kbs.1_Missense_Mutation_p.T44S|ANXA11_uc001kbt.1_Missense_Mutation_p.T44S|ANXA11_uc010qly.1_Missense_Mutation_p.T11S|ANXA11_uc009xsq.1_Missense_Mutation_p.T44S|ANXA11_uc001kbu.1_Missense_Mutation_p.T44S	p.T44S	NM_145869	NP_665876	P50995	ANX11_HUMAN	Colorectal(32;0.109)		5	955	-	Prostate(51;0.00985)|all_epithelial(25;0.0951)		44					B4DVE7	Missense_Mutation	SNP	ENST00000438331.1	37	c.130A>T	CCDS7364.1	.	.	.	.	.	.	.	.	.	.	.	11.12	1.544761	0.27563	.	.	ENSG00000122359	ENST00000372231;ENST00000422982;ENST00000438331;ENST00000372234;ENST00000360615;ENST00000265447;ENST00000535999;ENST00000537102;ENST00000445524;ENST00000437799	T;T;T;T;T;T;T	0.01725	4.67;4.67;4.67;4.67;4.67;4.67;4.67	4.69	3.55	0.40652	.	2.338380	0.01769	N	0.031065	T	0.01558	0.0050	N	0.08118	0	0.09310	N	0.999998	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.31420	-0.9944	10	0.30078	T	0.28	.	8.0097	0.30347	0.0:0.0986:0.0:0.9014	.	144;44;44	B7Z6L0;Q5T0G8;P50995	.;.;ANX11_HUMAN	S	44;44;44;44;44;44;44;11;44;44	ENSP00000361305:T44S;ENSP00000404412:T44S;ENSP00000398610:T44S;ENSP00000353827:T44S;ENSP00000265447:T44S;ENSP00000441748:T44S;ENSP00000441400:T11S	ENSP00000265447:T44S	T	-	1	0	ANXA11	81920577	0.998000	0.40836	0.969000	0.41365	0.033000	0.12548	1.684000	0.37649	1.886000	0.54624	0.364000	0.22116	ACC		0.632	ANXA11-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049044.1	NM_145869		22	56	0	0	0	0.00333	0	22	56				
MMRN2	79812	broad.mit.edu	37	10	88696877	88696877	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:88696877G>T	ENST00000372027.5	-	7	2794	c.2473C>A	c.(2473-2475)Cct>Act	p.P825T		NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	825	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				angiogenesis (GO:0001525)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						AAGGCCACAGGGGATCCTGAA	0.488																																							uc001kea.2		NA																	0				large_intestine(1)	1						c.(2473-2475)CCT>ACT		multimerin 2 precursor							82.0	66.0	71.0					10																	88696877		2203	4300	6503	SO:0001583	missense	79812					extracellular space		g.chr10:88696877G>T	AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269		"""EMI domain containing"""	19888	protein-coding gene	gene with protein product		608925	"""elastin microfibril interfacer 3"""	EMILIN3		11559704	Standard	NM_024756		Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.2473C>A	10.37:g.88696877G>T	ENSP00000361097:p.Pro825Thr					MMRN2_uc010qmn.1_Missense_Mutation_p.P468T	p.P825T	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN			7	2600	-			825			C1q.		Q504V7|Q6P2N2	Missense_Mutation	SNP	ENST00000372027.5	37	c.2473C>A	CCDS7379.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.781665	0.49891	.	.	ENSG00000173269	ENST00000372027;ENST00000443699	D	0.85702	-2.02	4.9	3.77	0.43336	Tumour necrosis factor-like (1);Complement C1q protein (1);	0.172903	0.38778	N	0.001572	T	0.80649	0.4663	L	0.52266	1.64	0.28899	N	0.893363	D;P	0.53151	0.958;0.932	P;B	0.46825	0.528;0.409	T	0.76170	-0.3057	10	0.48119	T	0.1	-17.266	4.8588	0.13573	0.1509:0.0:0.6376:0.2116	.	603;825	E7EN39;Q9H8L6	.;MMRN2_HUMAN	T	825;603	ENSP00000361097:P825T	ENSP00000361097:P825T	P	-	1	0	MMRN2	88686857	0.970000	0.33590	1.000000	0.80357	0.838000	0.47535	1.826000	0.39092	2.291000	0.77112	0.558000	0.71614	CCT		0.488	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049179.2	NM_024756		5	21	1	0	3.59834e-05	0.001168	4.13823e-05	5	21				
SLC16A12	387700	broad.mit.edu	37	10	91222194	91222194	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:91222194C>A	ENST00000341233.4	-	3	442	c.52G>T	c.(52-54)Ggc>Tgc	p.G18C	SLC16A12_ENST00000371790.4_Missense_Mutation_p.G48C|RP11-168O10.6_ENST00000423474.1_RNA|RP11-168O10.6_ENST00000454270.1_RNA	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12	18						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						ATCATCCAGCCCCAGCCTCCA	0.468																																							uc001kgm.2		NA																	0				skin(1)	1						c.(52-54)GGC>TGC		solute carrier family 16 (monocarboxylic acid							133.0	122.0	126.0					10																	91222194		2203	4300	6503	SO:0001583	missense	387700					integral to membrane|plasma membrane	symporter activity	g.chr10:91222194C>A		CCDS7404.1, CCDS7404.2	10q23.32	2013-07-18	2013-07-18		ENSG00000152779	ENSG00000152779		"""Solute carriers"""	23094	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 12"""	611910	"""solute carrier family 16 (monocarboxylic acid transporters), member 12"", ""solute carrier family 16, member 12 (monocarboxylic acid transporter 12)"""				Standard	NM_213606		Approved	MCT12	uc001kgm.3	Q6ZSM3	OTTHUMG00000018714	ENST00000341233.4:c.52G>T	10.37:g.91222194C>A	ENSP00000343022:p.Gly18Cys						p.G18C	NM_213606	NP_998771	Q6ZSM3	MOT12_HUMAN			3	443	-			18			Extracellular (Potential).		Q5M9M9|Q5T7J2|Q6ZV76	Missense_Mutation	SNP	ENST00000341233.4	37	c.52G>T		.	.	.	.	.	.	.	.	.	.	C	25.6	4.657275	0.88154	.	.	ENSG00000152779	ENST00000341233;ENST00000371790	T;T	0.58506	0.33;0.33	5.92	5.92	0.95590	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.83737	0.5319	H	0.95539	3.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87707	0.2564	10	0.72032	D	0.01	.	17.8282	0.88672	0.0:1.0:0.0:0.0	.	18	Q6ZSM3	MOT12_HUMAN	C	18;48	ENSP00000343022:G18C;ENSP00000360855:G48C	ENSP00000343022:G18C	G	-	1	0	SLC16A12	91212174	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.344000	0.72991	2.822000	0.97130	0.650000	0.86243	GGC		0.468	SLC16A12-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_213606		32	87	1	0	2.19358e-23	0.005524	3.75789e-23	32	87				
KIF20B	9585	broad.mit.edu	37	10	91497935	91497935	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:91497935C>G	ENST00000371728.3	+	20	3402	c.3337C>G	c.(3337-3339)Cta>Gta	p.L1113V	KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000394289.2_Missense_Mutation_p.L1113V|KIF20B_ENST00000416354.1_Missense_Mutation_p.L1143V|KIF20B_ENST00000260753.4_Missense_Mutation_p.L1073V	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1113					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						CCAAGATGACCTACTAAAAGA	0.333																																							uc001kgs.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(3337-3339)CTA>GTA		M-phase phosphoprotein 1							43.0	50.0	48.0					10																	91497935		2198	4291	6489	SO:0001583	missense	9585				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	g.chr10:91497935C>G	L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.3337C>G	10.37:g.91497935C>G	ENSP00000360793:p.Leu1113Val					KIF20B_uc001kgr.1_Missense_Mutation_p.L1073V|KIF20B_uc001kgt.1_Missense_Mutation_p.L324V|KIF20B_uc009xtw.1_RNA	p.L1113V	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN			20	3409	+			1113					A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	ENST00000371728.3	37	c.3337C>G		.	.	.	.	.	.	.	.	.	.	C	8.265	0.812094	0.16537	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	T;T;T;T	0.69561	-0.34;-0.35;-0.41;-0.35	5.6	3.74	0.42951	.	0.196582	0.24891	N	0.034772	T	0.55417	0.1919	L	0.56769	1.78	0.09310	N	1	P;P	0.42692	0.682;0.787	B;B	0.41813	0.202;0.367	T	0.45760	-0.9239	10	0.08381	T	0.77	-1.685	5.4016	0.16299	0.2327:0.5639:0.0:0.2034	.	1113;1073	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	V	1073;1143;1113;1113	ENSP00000260753:L1073V;ENSP00000411545:L1143V;ENSP00000377830:L1113V;ENSP00000360793:L1113V	ENSP00000260753:L1073V	L	+	1	2	KIF20B	91487915	0.000000	0.05858	0.007000	0.13788	0.364000	0.29643	0.159000	0.16442	1.368000	0.46115	0.591000	0.81541	CTA		0.333	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		11	26	0	0	0	0.000978	0	11	26				
HTR7	3363	broad.mit.edu	37	10	92508793	92508793	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:92508793C>A	ENST00000336152.3	-	2	1124	c.1098G>T	c.(1096-1098)gaG>gaT	p.E366D	HTR7_ENST00000277874.6_Missense_Mutation_p.E366D|HTR7_ENST00000371721.3_Missense_Mutation_p.E366D|HTR7_ENST00000371719.2_Missense_Mutation_p.E366D	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	366					blood circulation (GO:0008015)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Eletriptan(DB00216)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Methysergide(DB00247)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	GAAATGTCCTCTCCACCCACA	0.542																																							uc001kha.2		NA																	0				ovary(1)	1						c.(1096-1098)GAG>GAT		5-hydroxytryptamine receptor 7 isoform d	Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)						109.0	108.0	109.0					10																	92508793		2203	4300	6503	SO:0001583	missense	3363				blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity	g.chr10:92508793C>A	BC047526	CCDS7408.1, CCDS7409.1, CCDS7410.1	10q21-q24	2012-08-08	2012-02-03		ENSG00000148680	ENSG00000148680		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5302	protein-coding gene	gene with protein product		182137	"""5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)"""			8226867	Standard	NM_000872		Approved	5-HT7	uc001kha.3	P34969	OTTHUMG00000018732	ENST00000336152.3:c.1098G>T	10.37:g.92508793C>A	ENSP00000337949:p.Glu366Asp					HTR7_uc001kgz.2_Missense_Mutation_p.E366D|HTR7_uc001khb.2_Missense_Mutation_p.E366D	p.E366D	NM_019859	NP_062873	P34969	5HT7R_HUMAN			2	1341	-			366			Extracellular (By similarity).		B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02|Q5VX03	Missense_Mutation	SNP	ENST00000336152.3	37	c.1098G>T	CCDS7408.1	.	.	.	.	.	.	.	.	.	.	C	6.985	0.551771	0.13374	.	.	ENSG00000148680	ENST00000336152;ENST00000277874;ENST00000371719;ENST00000371721	T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62	5.45	4.55	0.56014	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.61850	0.2380	L	0.41632	1.29	0.37197	D	0.904197	P;P	0.36086	0.536;0.48	B;B	0.37888	0.26;0.09	T	0.65800	-0.6080	10	0.39692	T	0.17	.	10.688	0.45854	0.0:0.7979:0.0:0.2021	.	366;366	P34969;P34969-2	5HT7R_HUMAN;.	D	366	ENSP00000337949:E366D;ENSP00000277874:E366D;ENSP00000360784:E366D;ENSP00000360786:E366D	ENSP00000277874:E366D	E	-	3	2	HTR7	92498773	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	0.683000	0.25349	1.289000	0.44618	0.650000	0.86243	GAG		0.542	HTR7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049343.1	NM_000872		23	77	1	0	6.32553e-13	0.004656	9.41548e-13	23	77				
PLCE1	51196	broad.mit.edu	37	10	96058414	96058414	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:96058414T>A	ENST00000371380.3	+	23	5681	c.5446T>A	c.(5446-5448)Tac>Aac	p.Y1816N	PLCE1_ENST00000371375.1_Missense_Mutation_p.Y1508N|PLCE1_ENST00000260766.3_Missense_Mutation_p.Y1816N|PLCE1_ENST00000371385.3_Missense_Mutation_p.Y1508N			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1816	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GGCACTCAACTACCAGACTGA	0.507																																							uc001kjk.2		NA																	0				ovary(2)|skin(1)	3						c.(5446-5448)TAC>AAC		phospholipase C, epsilon 1 isoform 1							124.0	122.0	123.0					10																	96058414		2049	4202	6251	SO:0001583	missense	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:96058414T>A		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.5446T>A	10.37:g.96058414T>A	ENSP00000360431:p.Tyr1816Asn					PLCE1_uc010qnx.1_Missense_Mutation_p.Y1800N|PLCE1_uc001kjm.2_Missense_Mutation_p.Y1508N|PLCE1_uc001kjp.2_Missense_Mutation_p.Y174N	p.Y1816N	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN			24	6080	+		Colorectal(252;0.0458)	1816			PI-PLC Y-box.		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.5446T>A	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.726460	0.89298	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42	5.82	5.82	0.92795	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.000000	0.85682	D	0.000000	D	0.84651	0.5519	M	0.88105	2.93	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.87639	0.2521	10	0.87932	D	0	.	15.8548	0.78968	0.0:0.0:0.0:1.0	.	1800;1508;1816	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	N	1816;1816;1508;1508	ENSP00000260766:Y1816N;ENSP00000360431:Y1816N;ENSP00000360438:Y1508N;ENSP00000360426:Y1508N	ENSP00000260766:Y1816N	Y	+	1	0	PLCE1	96048404	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.008000	0.88588	2.234000	0.73211	0.533000	0.62120	TAC		0.507	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		35	129	0	0	0	0.002852	0	35	129				
ALDH18A1	5832	broad.mit.edu	37	10	97373523	97373523	+	Silent	SNP	G	G	A	rs377706078		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:97373523G>A	ENST00000371224.2	-	15	2036	c.1899C>T	c.(1897-1899)atC>atT	p.I633I	ALDH18A1_ENST00000371221.3_Silent_p.I631I	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	633	Gamma-glutamyl phosphate reductase.				cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|glutamate metabolic process (GO:0006536)|L-proline biosynthetic process (GO:0055129)|ornithine biosynthetic process (GO:0006592)|proline biosynthetic process (GO:0006561)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate 5-kinase activity (GO:0004349)|glutamate-5-semialdehyde dehydrogenase activity (GO:0004350)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)		GCATATCAATGATCTGGTCAA	0.443																																							uc001kkz.2		NA																	0				pancreas(1)|central_nervous_system(1)|skin(1)	3						c.(1897-1899)ATC>ATT		pyrroline-5-carboxylate synthetase isoform 1	L-Glutamic Acid(DB00142)						129.0	131.0	131.0					10																	97373523		2203	4300	6503	SO:0001819	synonymous_variant	5832				proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity	g.chr10:97373523G>A	X94453	CCDS7443.1, CCDS31257.1	10q24.3-q24.6	2004-08-12	2004-08-12	2004-08-12	ENSG00000059573	ENSG00000059573		"""Aldehyde dehydrogenases"""	9722	protein-coding gene	gene with protein product		138250	"""pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)"""	GSAS, PYCS		8921385	Standard	XM_006717933		Approved	P5CS	uc001kkz.3	P54886	OTTHUMG00000018815	ENST00000371224.2:c.1899C>T	10.37:g.97373523G>A						ALDH18A1_uc001kky.2_Silent_p.I631I|ALDH18A1_uc010qog.1_Silent_p.I522I|ALDH18A1_uc010qoh.1_Silent_p.I421I	p.I633I	NM_002860	NP_002851	P54886	P5CS_HUMAN		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	15	2141	-		Colorectal(252;0.0402)	633			Gamma-glutamyl phosphate reductase.		B2R5Q4|B7Z350|B7Z5X8|B7ZLP1|D3DR44|O95952|Q3KQU2|Q5T566|Q5T567|Q9UM72	Silent	SNP	ENST00000371224.2	37	c.1899C>T	CCDS7443.1																																																																																				0.443	ALDH18A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049552.1	NM_002860		24	59	0	0	0	0.005443	0	24	59				
CNNM1	26507	broad.mit.edu	37	10	101089340	101089340	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:101089340G>A	ENST00000356713.4	+	1	485	c.196G>A	c.(196-198)Gaa>Aaa	p.E66K	CNNM1_ENST00000370534.4_5'Flank|CNNM1_ENST00000446890.1_Missense_Mutation_p.E66K|CNNM1_ENST00000370528.3_Missense_Mutation_p.E66K	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	66					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		GCGCGCCGCCGAAGGCACCAG	0.746																																							uc001kpp.3		NA																	0					0						c.(196-198)GAA>AAA		cyclin M1							8.0	9.0	8.0					10																	101089340		1716	3773	5489	SO:0001583	missense	26507				ion transport	integral to membrane|plasma membrane		g.chr10:101089340G>A	AF169226	CCDS7478.2	10q24.2	2014-08-08	2014-08-07		ENSG00000119946	ENSG00000119946			102	protein-coding gene	gene with protein product		607802	"""cyclin M1"""	ACDP1		21393841	Standard	NM_020348		Approved		uc001kpp.4	Q9NRU3	OTTHUMG00000018881	ENST00000356713.4:c.196G>A	10.37:g.101089340G>A	ENSP00000349147:p.Glu66Lys					CNNM1_uc009xwe.2_Missense_Mutation_p.E66K|CNNM1_uc010qpi.1_Missense_Mutation_p.E66K|CNNM1_uc009xwf.2_Missense_Mutation_p.E66K	p.E66K	NM_020348	NP_065081	Q9NRU3	CNNM1_HUMAN		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)	1	485	+		Colorectal(252;0.234)	66					Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Missense_Mutation	SNP	ENST00000356713.4	37	c.196G>A	CCDS7478.2	.	.	.	.	.	.	.	.	.	.	g	16.46	3.130121	0.56721	.	.	ENSG00000119946	ENST00000356713;ENST00000446890;ENST00000370528	D;D;D	0.87179	-2.22;-1.89;-1.87	3.61	3.61	0.41365	.	.	.	.	.	D	0.85609	0.5736	N	0.08118	0	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76071	0.987;0.97	D	0.87613	0.2505	9	0.51188	T	0.08	-8.2566	14.1994	0.65693	0.0:0.0:1.0:0.0	.	66;66	Q9NRU3-2;Q9NRU3	.;CNNM1_HUMAN	K	66	ENSP00000349147:E66K;ENSP00000406492:E66K;ENSP00000359559:E66K	ENSP00000349147:E66K	E	+	1	0	CNNM1	101079330	1.000000	0.71417	0.967000	0.41034	0.961000	0.63080	7.139000	0.77314	1.873000	0.54277	0.457000	0.33378	GAA		0.746	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049792.2	NM_020348		5	18	0	0	0	0.001984	0	5	18				
ABCC2	1244	broad.mit.edu	37	10	101559009	101559009	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:101559009G>C	ENST00000370449.4	+	8	1026	c.913G>C	c.(913-915)Gtt>Ctt	p.V305L		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	305					cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	CAAAAAAGATGTTCCAAAATC	0.393																																							uc001kqf.2		NA																	0				ovary(1)	1						c.(913-915)GTT>CTT		ATP-binding cassette, sub-family C (CFTR/MRP),	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						226.0	242.0	237.0					10																	101559009		2203	4300	6503	SO:0001583	missense	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101559009G>C	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.913G>C	10.37:g.101559009G>C	ENSP00000359478:p.Val305Leu						p.V305L	NM_000392	NP_000383	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	8	1052	+		Colorectal(252;0.234)	305			Cytoplasmic (By similarity).		B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	ENST00000370449.4	37	c.913G>C	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	G	2.537	-0.307266	0.05458	.	.	ENSG00000023839	ENST00000370449	D	0.88664	-2.41	5.95	4.83	0.62350	ABC transporter, transmembrane domain, type 1 (1);	0.395265	0.31246	N	0.007992	T	0.78136	0.4236	N	0.14661	0.345	0.80722	D	1	B	0.11235	0.004	B	0.10450	0.005	T	0.69636	-0.5092	10	0.09338	T	0.73	-0.4924	13.0561	0.58982	0.0:0.0:0.1504:0.8496	.	305	Q92887	MRP2_HUMAN	L	305	ENSP00000359478:V305L	ENSP00000359478:V305L	V	+	1	0	ABCC2	101548999	0.990000	0.36364	0.345000	0.25642	0.063000	0.16089	3.246000	0.51414	1.108000	0.41662	0.561000	0.74099	GTT		0.393	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		45	111	0	0	0	0.002852	0	45	111				
FGF8	2253	broad.mit.edu	37	10	103534631	103534631	+	Silent	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:103534631C>G	ENST00000344255.3	-	4	161	c.162G>C	c.(160-162)gtG>gtC	p.V54V	FGF8_ENST00000320185.2_Silent_p.V65V|FGF8_ENST00000485728.1_5'UTR|FGF8_ENST00000347978.2_Silent_p.V36V|FGF8_ENST00000346714.3_Silent_p.V25V			P55075	FGF8_HUMAN	fibroblast growth factor 8 (androgen-induced)	54					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|apoptotic process (GO:0006915)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in mesendoderm migration (GO:0090134)|cell proliferation in forebrain (GO:0021846)|corticotropin hormone secreting cell differentiation (GO:0060128)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral axon guidance (GO:0033563)|embryonic hindlimb morphogenesis (GO:0035116)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain morphogenesis (GO:0048853)|forebrain neuron development (GO:0021884)|gastrulation (GO:0007369)|gonad development (GO:0008406)|heart looping (GO:0001947)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|lung morphogenesis (GO:0060425)|male genitalia development (GO:0030539)|MAPK cascade (GO:0000165)|mesodermal cell migration (GO:0008078)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|midbrain-hindbrain boundary development (GO:0030917)|motor neuron axon guidance (GO:0008045)|negative regulation of cardiac muscle tissue development (GO:0055026)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate morphogenesis (GO:0001839)|neuroepithelial cell differentiation (GO:0060563)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|pallium development (GO:0021543)|patterning of blood vessels (GO:0001569)|pharyngeal system development (GO:0060037)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitosis (GO:0045840)|positive regulation of organ growth (GO:0046622)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to oxidative stress (GO:0006979)|signal transduction involved in regulation of gene expression (GO:0023019)|subpallium development (GO:0021544)|thyroid gland development (GO:0030878)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|type 1 fibroblast growth factor receptor binding (GO:0005105)|type 2 fibroblast growth factor receptor binding (GO:0005111)			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(2)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		TCTGCTCCCTCACATGCTGTG	0.542																																							uc001ktp.1		NA																	0					0						c.(160-162)GTG>GTC		fibroblast growth factor 8 isoform E precursor							77.0	80.0	79.0					10																	103534631		2203	4300	6503	SO:0001819	synonymous_variant	2253				bone development|dopaminergic neuron differentiation|fibroblast growth factor receptor signaling pathway|gastrulation|gonad development|insulin receptor signaling pathway|mesonephros development|metanephros development|negative regulation of cardiac muscle tissue development|neuroepithelial cell differentiation|odontogenesis|positive regulation of cell division|positive regulation of cell proliferation	extracellular region|extracellular space	growth factor activity|growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding	g.chr10:103534631C>G	D38752	CCDS7515.1, CCDS7516.1, CCDS7517.1, CCDS7518.1, CCDS73185.1	10q25-q26	2014-01-30			ENSG00000107831	ENSG00000107831		"""Endogenous ligands"""	3686	protein-coding gene	gene with protein product		600483				8595889	Standard	NM_033164		Approved	AIGF	uc001ktq.2	P55075	OTTHUMG00000018940	ENST00000344255.3:c.162G>C	10.37:g.103534631C>G						FGF8_uc001ktq.1_Silent_p.V65V|FGF8_uc001ktr.1_Silent_p.V36V|FGF8_uc001kts.1_Silent_p.V25V|FGF8_uc009xwr.1_5'UTR	p.V54V	NM_033164	NP_149354	P55075	FGF8_HUMAN		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)	4	332	-		Colorectal(252;0.122)	54					A1A514|Q14915|Q15766	Silent	SNP	ENST00000344255.3	37	c.162G>C	CCDS7517.1																																																																																				0.542	FGF8-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049999.1	NM_006119, NM_033165		16	24	0	0	0	0.00499	0	16	24				
LDB1	8861	broad.mit.edu	37	10	103869187	103869187	+	Silent	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:103869187G>C	ENST00000425280.1	-	9	1152	c.810C>G	c.(808-810)ctC>ctG	p.L270L	LDB1_ENST00000361198.5_Silent_p.L234L|LDB1_ENST00000490751.1_5'Flank	NM_001113407.1	NP_001106878.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	270					anterior/posterior axis specification (GO:0009948)|cellular component assembly (GO:0022607)|cerebellar Purkinje cell differentiation (GO:0021702)|epithelial structure maintenance (GO:0010669)|gastrulation with mouth forming second (GO:0001702)|hair follicle development (GO:0001942)|head development (GO:0060322)|histone H3-K4 acetylation (GO:0043973)|multicellular organismal development (GO:0007275)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|positive regulation of cell adhesion (GO:0045785)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery (GO:0000972)|Wnt signaling pathway (GO:0016055)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|enzyme binding (GO:0019899)|LIM domain binding (GO:0030274)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		GGCAGGTCTTGAGGCAGTCGC	0.592																																							uc009xwz.2		NA																	0				large_intestine(1)	1						c.(808-810)CTC>CTG		LIM domain binding 1 isoform 1							80.0	72.0	75.0					10																	103869187		2203	4300	6503	SO:0001819	synonymous_variant	8861				histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity	g.chr10:103869187G>C	AF068652	CCDS7528.1, CCDS44472.1	10q24-q25	2008-08-01			ENSG00000198728	ENSG00000198728			6532	protein-coding gene	gene with protein product	"""carboxy terminal LIM domain protein 2"""	603451				9503020, 9799849	Standard	NM_003893		Approved	NLI, CLIM2	uc009xwz.3	Q86U70	OTTHUMG00000018950	ENST00000425280.1:c.810C>G	10.37:g.103869187G>C						LDB1_uc001kuk.3_Silent_p.L234L|LDB1_uc001kul.3_Silent_p.L234L	p.L270L	NM_001113407	NP_001106878	Q86U70	LDB1_HUMAN		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)	9	1153	-		Colorectal(252;0.122)	270					B4DUC4|O75479|O96010|Q1EQX1|Q9UGM4	Silent	SNP	ENST00000425280.1	37	c.810C>G	CCDS44472.1																																																																																				0.592	LDB1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113407		9	36	0	0	0	0.008291	0	9	36				
PPRC1	23082	broad.mit.edu	37	10	103901572	103901572	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:103901572G>C	ENST00000278070.2	+	5	3346	c.3307G>C	c.(3307-3309)Gag>Cag	p.E1103Q	PPRC1_ENST00000489648.1_3'UTR|PPRC1_ENST00000413464.2_Missense_Mutation_p.E1103Q|PPRC1_ENST00000370012.1_Missense_Mutation_p.E70Q	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1103	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GCTAAAGCCTGAGACCCAAGA	0.592																																							uc001kum.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(3307-3309)GAG>CAG		peroxisome proliferator-activated receptor							72.0	69.0	70.0					10																	103901572		2203	4300	6503	SO:0001583	missense	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103901572G>C	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.3307G>C	10.37:g.103901572G>C	ENSP00000278070:p.Glu1103Gln					PPRC1_uc001kun.2_Missense_Mutation_p.E983Q|PPRC1_uc010qqj.1_Missense_Mutation_p.E1103Q|PPRC1_uc009xxa.2_RNA	p.E1103Q	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	5	3346	+		Colorectal(252;0.122)	1103			Pro-rich.		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	c.3307G>C	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.062396	0.36373	.	.	ENSG00000148840	ENST00000278070;ENST00000413464;ENST00000370012	T;T;T	0.34859	1.73;1.71;1.34	5.74	5.74	0.90152	.	0.337042	0.28052	N	0.016792	T	0.42810	0.1219	L	0.29908	0.895	0.26952	N	0.966002	D;D;D	0.71674	0.996;0.998;0.996	P;P;P	0.59115	0.715;0.852;0.715	T	0.27297	-1.0078	10	0.34782	T	0.22	.	14.5708	0.68210	0.0:0.1457:0.8542:0.0	.	1103;983;1103	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	Q	1103;1103;70	ENSP00000278070:E1103Q;ENSP00000399743:E1103Q;ENSP00000359029:E70Q	ENSP00000278070:E1103Q	E	+	1	0	PPRC1	103891562	0.736000	0.28164	1.000000	0.80357	0.685000	0.39939	1.589000	0.36644	2.873000	0.98535	0.563000	0.77884	GAG		0.592	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		3	8	0	0	0	0.004672	0	3	8				
GBF1	8729	broad.mit.edu	37	10	104019846	104019846	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:104019846C>G	ENST00000369983.3	+	3	396	c.136C>G	c.(136-138)Cta>Gta	p.L46V	AL160011.1_ENST00000516180.2_RNA	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	46					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		TTTCGGTCATCTAAAGGAGGT	0.338																																							uc001kux.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(136-138)CTA>GTA		golgi-specific brefeldin A resistant guanine							184.0	176.0	179.0					10																	104019846		2203	4300	6503	SO:0001583	missense	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104019846C>G	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.136C>G	10.37:g.104019846C>G	ENSP00000359000:p.Leu46Val					GBF1_uc001kuw.2_Missense_Mutation_p.L46V|GBF1_uc001kuy.1_Missense_Mutation_p.L46V|GBF1_uc001kuz.1_Missense_Mutation_p.L46V	p.L46V	NM_004193	NP_004184	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	3	376	+		Colorectal(252;0.0236)	46					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	c.136C>G	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.536494	0.45176	.	.	ENSG00000107862	ENST00000369983	T	0.38560	1.13	5.15	2.0	0.26442	.	0.169630	0.38605	N	0.001629	T	0.54983	0.1892	M	0.86864	2.845	0.42796	D	0.993914	P;D;P;D	0.60575	0.841;0.963;0.772;0.988	P;P;B;P	0.50754	0.54;0.54;0.133;0.649	T	0.61700	-0.7009	10	0.87932	D	0	-6.9531	10.2895	0.43588	0.0:0.6401:0.0:0.3599	.	46;46;46;46	Q149P1;Q149P0;Q92538;Q504U7	.;.;GBF1_HUMAN;.	V	46	ENSP00000359000:L46V	ENSP00000359000:L46V	L	+	1	2	GBF1	104009836	0.461000	0.25783	0.993000	0.49108	0.500000	0.33767	0.594000	0.24014	0.195000	0.20347	-0.145000	0.13849	CTA		0.338	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			30	78	0	0	0	0.005524	0	30	78				
INA	9118	broad.mit.edu	37	10	105046872	105046872	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:105046872G>T	ENST00000369849.4	+	2	1195	c.1146G>T	c.(1144-1146)ttG>ttT	p.L382F		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	382	Coil 2.|Rod.				cell differentiation (GO:0030154)|neurofilament cytoskeleton organization (GO:0060052)|substantia nigra development (GO:0021762)	cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular space (GO:0005615)|neurofilament (GO:0005883)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		ACCAGGACTTGCTCAATGTCA	0.483																																							uc001kws.2		NA																	0				ovary(1)|breast(1)	2						c.(1144-1146)TTG>TTT		internexin neuronal intermediate filament							120.0	98.0	106.0					10																	105046872		2203	4300	6503	SO:0001583	missense	9118				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton	g.chr10:105046872G>T	S78296	CCDS7545.1	10q24	2013-01-16			ENSG00000148798	ENSG00000148798		"""Intermediate filaments type IV"""	6057	protein-coding gene	gene with protein product		605338		NEF5		7769995	Standard	NM_032727		Approved	NF-66	uc001kws.3	Q16352	OTTHUMG00000018986	ENST00000369849.4:c.1146G>T	10.37:g.105046872G>T	ENSP00000358865:p.Leu382Phe						p.L382F	NM_032727	NP_116116	Q16352	AINX_HUMAN		Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)	2	1195	+			382			Coil 2.|Rod.		B1AQK0|Q9BRC5	Missense_Mutation	SNP	ENST00000369849.4	37	c.1146G>T	CCDS7545.1	.	.	.	.	.	.	.	.	.	.	G	18.28	3.588612	0.66105	.	.	ENSG00000148798	ENST00000369849	D	0.96856	-4.15	5.43	4.53	0.55603	Filament (1);	0.000000	0.64402	D	0.000001	D	0.98745	0.9578	H	0.99225	4.475	0.40855	D	0.983789	D	0.89917	1.0	D	0.97110	1.0	D	0.98231	1.0483	10	0.87932	D	0	.	6.765	0.23562	0.1555:0.148:0.6965:0.0	.	382	Q16352	AINX_HUMAN	F	382	ENSP00000358865:L382F	ENSP00000358865:L382F	L	+	3	2	INA	105036862	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.874000	0.28065	1.524000	0.49035	0.655000	0.94253	TTG		0.483	INA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050145.1	NM_032727		10	32	1	0	2.17888e-05	0.006214	2.52532e-05	10	32				
SFR1	119392	broad.mit.edu	37	10	105883606	105883606	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:105883606C>T	ENST00000369727.3	+	3	289	c.270C>T	c.(268-270)tcC>tcT	p.S90S	SFR1_ENST00000369729.3_Silent_p.S77S|SFR1_ENST00000336358.5_Silent_p.S152S	NM_001002759.1	NP_001002759.1	Q86XK3	SFR1_HUMAN	SWI5-dependent recombination repair 1	90					double-strand break repair via homologous recombination (GO:0000724)	nucleus (GO:0005634)|Swi5-Sfr1 complex (GO:0032798)											CAGCATCTTCCACAGAGGAAA	0.303																																							uc001kxu.2		NA																	0					0						c.(268-270)TCC>TCT		hypothetical protein LOC119392 isoform a							58.0	66.0	64.0					10																	105883606		2200	4298	6498	SO:0001819	synonymous_variant	119392				double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding	g.chr10:105883606C>T	BC020892	CCDS31279.1, CCDS31280.1	10q25.1	2013-10-11	2011-08-01	2011-08-01	ENSG00000156384	ENSG00000156384			29574	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 78"", ""MEI5 recombination repair protein homolog (S. cerevisiae)"""	C10orf78, MEIR5		21252223, 21779174, 20976249	Standard	NM_145247		Approved	MEI5, bA373N18.1, FLJ41960	uc001kxu.3	Q86XK3	OTTHUMG00000019000	ENST00000369727.3:c.270C>T	10.37:g.105883606C>T						C10orf78_uc001kxs.2_Silent_p.S77S|C10orf78_uc001kxt.2_Silent_p.S44S|C10orf78_uc001kxv.2_Silent_p.S152S	p.S90S	NM_001002759	NP_001002759	Q86XK3	SFR1_HUMAN		Epithelial(162;1.31e-09)|all cancers(201;3.84e-08)|BRCA - Breast invasive adenocarcinoma(275;0.014)	3	283	+		Colorectal(252;0.102)|Breast(234;0.122)	90					A8K569|B2RTV8|Q5JT39|Q5JT40|Q8WW47	Silent	SNP	ENST00000369727.3	37	c.270C>T	CCDS31279.1																																																																																				0.303	SFR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050191.1	NM_145247		19	38	0	0	0	0.001882	0	19	38				
SORCS3	22986	broad.mit.edu	37	10	106937921	106937921	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:106937921C>A	ENST00000369701.3	+	14	2226	c.1999C>A	c.(1999-2001)Cac>Aac	p.H667N	SORCS3_ENST00000369699.4_Intron	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	667					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AATGGAGACCCACATCATGAC	0.502																																					NSCLC(116;1497 1690 7108 13108 14106)	NSCLC(116;1497 1690 7108 13108 14106)	uc001kyi.1		NA																	0				ovary(6)|skin(3)|central_nervous_system(1)	10						c.(1999-2001)CAC>AAC		VPS10 domain receptor protein SORCS 3 precursor							186.0	156.0	166.0					10																	106937921		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106937921C>A	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.1999C>A	10.37:g.106937921C>A	ENSP00000358715:p.His667Asn					SORCS3_uc010qqz.1_Intron	p.H667N	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	14	2226	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	667			Lumenal (Potential).		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.1999C>A	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.773990	0.49786	.	.	ENSG00000156395	ENST00000369701;ENST00000393176	T;T	0.28255	1.62;1.62	5.79	5.79	0.91817	VPS10 (1);	0.171108	0.52532	D	0.000065	T	0.31167	0.0788	L	0.46157	1.445	0.44754	D	0.997759	B	0.19583	0.037	B	0.20184	0.028	T	0.04320	-1.0960	9	.	.	.	.	18.8022	0.92022	0.0:1.0:0.0:0.0	.	667	Q9UPU3	SORC3_HUMAN	N	667;112	ENSP00000358715:H667N;ENSP00000376876:H112N	.	H	+	1	0	SORCS3	106927911	0.998000	0.40836	1.000000	0.80357	0.919000	0.55068	7.118000	0.77137	2.732000	0.93576	0.585000	0.79938	CAC		0.502	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		12	26	1	0	1.3612e-06	0.003163	1.67559e-06	12	26				
SORCS3	22986	broad.mit.edu	37	10	106974319	106974319	+	Missense_Mutation	SNP	G	G	T	rs202092284		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:106974319G>T	ENST00000369701.3	+	18	2722	c.2495G>T	c.(2494-2496)cGg>cTg	p.R832L	SORCS3_ENST00000369699.4_Missense_Mutation_p.R118L	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	832	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.R832L(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		ACCGATGGGCGGCTGGTGGCA	0.582																																					NSCLC(116;1497 1690 7108 13108 14106)	NSCLC(116;1497 1690 7108 13108 14106)	uc001kyi.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|central_nervous_system(1)	10						c.(2494-2496)CGG>CTG		VPS10 domain receptor protein SORCS 3 precursor							53.0	47.0	49.0					10																	106974319		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106974319G>T	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2495G>T	10.37:g.106974319G>T	ENSP00000358715:p.Arg832Leu					SORCS3_uc010qqz.1_RNA	p.R832L	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	18	2722	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	832			PKD.|Lumenal (Potential).		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.2495G>T	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	g	20.5	3.994917	0.74703	.	.	ENSG00000156395	ENST00000369701;ENST00000369699	T;T	0.61158	0.13;0.13	5.89	4.99	0.66335	PKD domain (2);	0.202216	0.44097	D	0.000490	T	0.36880	0.0983	N	0.08118	0	0.38235	D	0.94115	B	0.33964	0.434	B	0.39738	0.308	T	0.34054	-0.9844	9	.	.	.	.	7.1795	0.25763	0.2805:0.0:0.7195:0.0	.	832	Q9UPU3	SORC3_HUMAN	L	832;118	ENSP00000358715:R832L;ENSP00000358713:R118L	.	R	+	2	0	SORCS3	106964309	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.233000	0.78125	1.500000	0.48636	0.558000	0.71614	CGG		0.582	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		10	29	1	0	4.3838e-07	0.001855	5.45499e-07	10	29				
DUSP5	1847	broad.mit.edu	37	10	112258062	112258062	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:112258062G>T	ENST00000369583.3	+	1	467	c.183G>T	c.(181-183)tcG>tcT	p.S61S	RP11-525A16.4_ENST00000609514.1_lincRNA	NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	61	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				endoderm formation (GO:0001706)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		gcgcggTGTCGGCGCGCTACG	0.776																																							uc001kzd.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(181-183)TCG>TCT		dual specificity phosphatase 5							7.0	8.0	8.0					10																	112258062		2039	3940	5979	SO:0001819	synonymous_variant	1847				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr10:112258062G>T	U16996	CCDS7566.1	10q25	2011-06-09			ENSG00000138166	ENSG00000138166		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3071	protein-coding gene	gene with protein product		603069				7806236	Standard	NM_004419		Approved	HVH3	uc001kzd.3	Q16690	OTTHUMG00000019040	ENST00000369583.3:c.183G>T	10.37:g.112258062G>T							p.S61S	NM_004419	NP_004410	Q16690	DUS5_HUMAN		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)	1	438	+		Breast(234;0.0848)	61			Nuclear localization signal (Potential).|Rhodanese.		Q12997|Q5T603	Silent	SNP	ENST00000369583.3	37	c.183G>T	CCDS7566.1																																																																																				0.776	DUSP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050333.1	NM_004419		3	16	1	0	0.004672	0.004672	0.00493414	3	16				
ATRNL1	26033	broad.mit.edu	37	10	117061393	117061393	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:117061393C>T	ENST00000355044.3	+	17	2784	c.2658C>T	c.(2656-2658)tgC>tgT	p.C886C	ATRNL1_ENST00000423111.2_5'UTR|ATRNL1_ENST00000303745.7_5'Flank	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	886					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CGAGGCCGTGCAAAAAGCCAT	0.378																																							uc001lcg.2		NA																	0				ovary(5)|lung(1)|central_nervous_system(1)	7						c.(2656-2658)TGC>TGT		attractin-like 1 precursor							178.0	130.0	146.0					10																	117061393		2203	4300	6503	SO:0001819	synonymous_variant	26033					integral to membrane	sugar binding	g.chr10:117061393C>T	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.2658C>T	10.37:g.117061393C>T						ATRNL1_uc010qsm.1_Silent_p.C61C|ATRNL1_uc010qsn.1_RNA	p.C886C	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	17	3044	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	886			Extracellular (Potential).		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Silent	SNP	ENST00000355044.3	37	c.2658C>T	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	C	9.548	1.115115	0.20795	.	.	ENSG00000107518	ENST00000526373	.	.	.	5.41	3.21	0.36854	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.1753	9.3241	0.37982	0.0:0.7003:0.0:0.2997	.	.	.	.	X	16	.	.	Q	+	1	0	ATRNL1	117051383	0.994000	0.37717	1.000000	0.80357	0.976000	0.68499	0.425000	0.21346	1.284000	0.44531	0.655000	0.94253	CAA		0.378	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		15	26	0	0	0	0.006122	0	15	26				
PNLIPRP2	5408	broad.mit.edu	37	10	118404544	118404544	+	RNA	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:118404544G>T	ENST00000298771.7	+	0	1371				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000537242.1_RNA	NR_103727.1		P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process (GO:0019376)|lipid digestion (GO:0044241)|phospholipid catabolic process (GO:0009395)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	acylglycerol lipase activity (GO:0047372)|calcium ion binding (GO:0005509)|galactolipase activity (GO:0047714)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		TTCCTCCACAGGTATAATTTT	0.438																																							uc001lcq.2		NA																	0				large_intestine(1)	1						c.e16-1		pancreatic lipase-related protein 2							71.0	69.0	70.0					10																	118404544		1856	4101	5957			5408				galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity	g.chr10:118404544G>T	M93284		10q26.12	2014-03-14				ENSG00000266200	3.1.1.3		9157	protein-coding gene	gene with protein product		604423				1379598	Standard	NM_005396		Approved	PLRP2	uc001lcq.3	P54317			10.37:g.118404544G>T							p.E450_splice	NM_005396	NP_005387	P54317	LIPR2_HUMAN		all cancers(201;0.015)	16	1373	+								A8K627|Q6IB55	Splice_Site	SNP	ENST00000298771.7	37	c.1350_splice		.	.	.	.	.	.	.	.	.	.	G	10.45	1.354620	0.24512	.	.	ENSG00000165862	ENST00000537242	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8227	0.78673	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PNLIPRP2	118394534	1.000000	0.71417	1.000000	0.80357	0.564000	0.35744	3.577000	0.53885	2.472000	0.83506	0.650000	0.86243	.		0.438	PNLIPRP2-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000050546.6	NM_005396		5	11	1	0	0.000602214	0.000602	0.00065942	5	11				
SEC23IP	11196	broad.mit.edu	37	10	121674267	121674267	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:121674267G>T	ENST00000369075.3	+	7	1410	c.1338G>T	c.(1336-1338)ttG>ttT	p.L446F	SEC23IP_ENST00000543134.1_Missense_Mutation_p.L235F	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	446					acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		TTGACCATTTGGTGTTTGTGG	0.373																																							uc001leu.1		NA																	0				ovary(3)	3						c.(1336-1338)TTG>TTT		Sec23-interacting protein p125							438.0	394.0	409.0					10																	121674267		2203	4300	6503	SO:0001583	missense	11196				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding	g.chr10:121674267G>T	AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"""Sterile alpha motif (SAM) domain containing"""	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.1338G>T	10.37:g.121674267G>T	ENSP00000358071:p.Leu446Phe					SEC23IP_uc010qtc.1_Missense_Mutation_p.L235F	p.L446F	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN		all cancers(201;0.00515)	7	1410	+		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)	446					D3DRD2|Q8IXH5|Q9BUK5	Missense_Mutation	SNP	ENST00000369075.3	37	c.1338G>T	CCDS7618.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.960837	0.74016	.	.	ENSG00000107651	ENST00000369075;ENST00000543134;ENST00000446561	T;T;T	0.62105	0.05;0.05;0.05	5.45	2.56	0.30785	.	0.000000	0.85682	D	0.000000	D	0.83566	0.5282	H	0.96489	3.83	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.994	D	0.86952	0.2086	10	0.87932	D	0	-14.1741	11.8	0.52122	0.2022:0.0:0.7978:0.0	.	235;446	F5H0L8;Q9Y6Y8	.;S23IP_HUMAN	F	446;235;150	ENSP00000358071:L446F;ENSP00000438773:L235F;ENSP00000396906:L150F	ENSP00000358071:L446F	L	+	3	2	SEC23IP	121664257	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	0.724000	0.25954	0.788000	0.33755	0.591000	0.81541	TTG		0.373	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1			71	130	1	0	4.45923e-32	0.00361	7.96979e-32	71	130				
FGFR2	2263	broad.mit.edu	37	10	123263308	123263308	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:123263308C>T	ENST00000358487.5	-	10	1707	c.1435G>A	c.(1435-1437)Gat>Aat	p.D479N	FGFR2_ENST00000478859.1_Missense_Mutation_p.D251N|FGFR2_ENST00000457416.2_Missense_Mutation_p.D480N|FGFR2_ENST00000351936.6_Missense_Mutation_p.D477N|FGFR2_ENST00000346997.2_Missense_Mutation_p.D477N|FGFR2_ENST00000360144.3_Missense_Mutation_p.D391N|FGFR2_ENST00000357555.5_Missense_Mutation_p.D390N|FGFR2_ENST00000369061.4_Missense_Mutation_p.D367N|FGFR2_ENST00000369059.1_Missense_Mutation_p.D365N|FGFR2_ENST00000356226.4_Missense_Mutation_p.D362N|FGFR2_ENST00000369060.4_Missense_Mutation_p.D363N|FGFR2_ENST00000369056.1_Missense_Mutation_p.D480N	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	479					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	ACTCACTTATCTCTTGGAAAC	0.473		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome																														uc010qtk.1		5		Dom	yes		10	10q26	2263	Mis	fibroblast growth factor receptor 2	yes	Crouzon|Pfeiffer|and Apert syndromes	E			gastric. NSCLC|endometrial		0				endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1)	96						c.(1435-1437)GAT>AAT		fibroblast growth factor receptor 2 isoform 1	Palifermin(DB00039)						74.0	73.0	74.0					10																	123263308		2203	4300	6503	SO:0001583	missense	2263	Apert_syndrome|Saethre-Chotzen_syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	g.chr10:123263308C>T	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.1435G>A	10.37:g.123263308C>T	ENSP00000351276:p.Asp479Asn					FGFR2_uc010qtg.1_Missense_Mutation_p.D367N|FGFR2_uc010qth.1_Missense_Mutation_p.D364N|FGFR2_uc010qti.1_Missense_Mutation_p.D390N|FGFR2_uc010qtj.1_Missense_Mutation_p.D480N|FGFR2_uc010qtl.1_Missense_Mutation_p.D363N|FGFR2_uc010qtm.1_Missense_Mutation_p.D362N|FGFR2_uc001lfl.3_Missense_Mutation_p.D480N|FGFR2_uc001lfm.2_Missense_Mutation_p.D391N|FGFR2_uc001lfg.3_Missense_Mutation_p.D87N	p.D479N	NM_000141	NP_000132	P21802	FGFR2_HUMAN	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	11	2082	-		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	479			Cytoplasmic (Potential).		B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	SNP	ENST00000358487.5	37	c.1435G>A	CCDS31298.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.645200	0.67358	.	.	ENSG00000066468	ENST00000357555;ENST00000369062;ENST00000369061;ENST00000358487;ENST00000356226;ENST00000369060;ENST00000369059;ENST00000429361;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000360144;ENST00000369056;ENST00000369058;ENST00000336553	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91407	-2.84;-2.84;-2.84;-2.84;-2.84;-2.84;-2.84;-2.84;-2.84;-2.84;-2.84;-2.84;-2.84;-2.84	6.03	5.11	0.69529	Protein kinase-like domain (1);	0.041245	0.85682	D	0.000000	D	0.90950	0.7155	M	0.75777	2.31	0.80722	D	1	B;B;B;B;B;B;B;B	0.27264	0.005;0.009;0.128;0.005;0.054;0.002;0.173;0.063	B;B;B;B;B;B;B;B	0.30105	0.016;0.035;0.094;0.007;0.038;0.016;0.111;0.029	D	0.89023	0.3436	10	0.52906	T	0.07	.	17.2618	0.87072	0.0:0.8744:0.1256:0.0	.	496;478;390;362;479;391;480;382	D3DRD5;P21802-18;P21802-21;P21802-20;P21802;P21802-22;P21802-17;D3DRD3	.;.;.;.;FGFR2_HUMAN;.;.;.	N	390;480;367;479;362;363;365;71;477;480;477;391;480;480;388	ENSP00000350166:D390N;ENSP00000358057:D367N;ENSP00000351276:D479N;ENSP00000348559:D362N;ENSP00000358056:D363N;ENSP00000358055:D365N;ENSP00000404219:D71N;ENSP00000263451:D477N;ENSP00000410294:D480N;ENSP00000309878:D477N;ENSP00000353262:D391N;ENSP00000358052:D480N;ENSP00000358054:D480N;ENSP00000337665:D388N	ENSP00000337665:D388N	D	-	1	0	FGFR2	123253298	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.019000	0.70818	1.511000	0.48818	0.655000	0.94253	GAT		0.473	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141		10	27	0	0	0	0.008291	0	10	27				
PTPRE	5791	broad.mit.edu	37	10	129846042	129846042	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:129846042G>T	ENST00000254667.3	+	5	503	c.224G>T	c.(223-225)aGg>aTg	p.R75M	PTPRE_ENST00000471218.1_Missense_Mutation_p.R75M|PTPRE_ENST00000419012.2_Missense_Mutation_p.R75M|PTPRE_ENST00000430713.2_Missense_Mutation_p.R75M|PTPRE_ENST00000306042.5_Missense_Mutation_p.R17M	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	75					negative regulation of insulin receptor signaling pathway (GO:0046627)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of mast cell activation (GO:0033003)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)			Alendronate(DB00630)	AGGAAGCAGAGGAAAGCTGTG	0.552																																					Colon(52;977 1184 20575 41685)	Colon(52;977 1184 20575 41685)	uc001lkb.2		NA																	0				ovary(1)	1						c.(223-225)AGG>ATG		protein tyrosine phosphatase, receptor type, E							104.0	102.0	103.0					10																	129846042		2203	4300	6503	SO:0001583	missense	5791				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr10:129846042G>T	AF406557	CCDS7657.1, CCDS7658.1	10q26	2011-06-09			ENSG00000132334	ENSG00000132334		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9669	protein-coding gene	gene with protein product		600926				8595895	Standard	NM_130435		Approved	PTPE	uc001lkb.3	P23469	OTTHUMG00000019254	ENST00000254667.3:c.224G>T	10.37:g.129846042G>T	ENSP00000254667:p.Arg75Met					PTPRE_uc009yat.2_Missense_Mutation_p.R86M|PTPRE_uc010qup.1_RNA|PTPRE_uc009yau.2_Missense_Mutation_p.R75M|PTPRE_uc001lkc.1_RNA|PTPRE_uc001lkd.2_Missense_Mutation_p.R17M|PTPRE_uc010quq.1_5'Flank	p.R75M	NM_006504	NP_006495	P23469	PTPRE_HUMAN			5	503	+		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)	75			Cytoplasmic (Potential).		Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Missense_Mutation	SNP	ENST00000254667.3	37	c.224G>T	CCDS7657.1	.	.	.	.	.	.	.	.	.	.	G	31	5.081363	0.94050	.	.	ENSG00000132334	ENST00000254667;ENST00000442830;ENST00000419012;ENST00000430713;ENST00000455661;ENST00000306042	T;T;T	0.03580	3.89;3.89;3.88	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.16041	0.0386	L	0.61218	1.895	0.80722	D	1	D;D;D	0.62365	0.985;0.991;0.985	P;D;P	0.66497	0.88;0.944;0.88	T	0.00128	-1.2018	10	0.87932	D	0	.	18.4659	0.90755	0.0:0.0:1.0:0.0	.	75;17;75	Q5VWH4;P23469-2;P23469	.;.;PTPRE_HUMAN	M	75;75;75;75;75;17	ENSP00000254667:R75M;ENSP00000402337:R75M;ENSP00000303350:R17M	ENSP00000254667:R75M	R	+	2	0	PTPRE	129736032	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.680000	0.91225	2.519000	0.84933	0.650000	0.86243	AGG		0.552	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050990.1			13	43	1	0	2.32078e-09	0.003163	3.14299e-09	13	43				
CFAP46	54777	broad.mit.edu	37	10	134664626	134664626	+	Missense_Mutation	SNP	C	C	A	rs143825819	byFrequency	TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:134664626C>A	ENST00000368586.5	-	40	5858	c.5758G>T	c.(5758-5760)Ggc>Tgc	p.G1920C	TTC40_ENST00000263170.5_Missense_Mutation_p.G81C	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						ATTACCAGGCCGACGGAAGTG	0.632																																							uc010qux.1		NA																	0					NA						c.(4936-4938)GGC>TGC		Homo sapiens cDNA, FLJ17989.							73.0	71.0	72.0					10																	134664626		2203	4300	6503	SO:0001583	missense	0							g.chr10:134664626C>A																												ENST00000368586.5:c.5758G>T	10.37:g.134664626C>A	ENSP00000357575:p.Gly1920Cys						p.G1646C	NM_017609	NP_060079					32	4936	-									Missense_Mutation	SNP	ENST00000368586.5	37	c.4936G>T	CCDS58101.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.303920	0.40795	.	.	ENSG00000171811	ENST00000368586;ENST00000263170	T;T	0.12774	2.88;2.65	4.26	1.29	0.21616	.	0.498703	0.16393	N	0.216389	T	0.21881	0.0527	L	0.48642	1.525	0.09310	N	1	D	0.76494	0.999	D	0.63113	0.911	T	0.06445	-1.0826	10	0.62326	D	0.03	.	5.3691	0.16131	0.0:0.6434:0.1659:0.1906	.	81	Q8IYW2	CJ092_HUMAN	C	1920;81	ENSP00000357575:G1920C;ENSP00000263170:G81C	ENSP00000263170:G81C	G	-	1	0	C10orf93	134514616	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	0.781000	0.26774	0.083000	0.17047	-0.150000	0.13652	GGC		0.632	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051095.3			24	58	1	0	1.2476e-16	0.00632	1.99696e-16	24	58				
FRG2B	441581	broad.mit.edu	37	10	135440114	135440114	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:135440114T>A	ENST00000425520.1	-	1	185	c.133A>T	c.(133-135)Aag>Tag	p.K45*	FRG2B_ENST00000443774.1_Nonsense_Mutation_p.K45*	NM_001080998.1	NP_001074467.1	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	45						nucleus (GO:0005634)				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		AAGGCGGTCTTGCCTTTTTCT	0.507																																							uc010qvg.1		NA																	0					0						c.(133-135)AAG>TAG		FSHD region gene 2 family, member B							14.0	16.0	16.0					10																	135440114		2132	4237	6369	SO:0001587	stop_gained	441581					nucleus		g.chr10:135440114T>A	AY744466	CCDS44502.1	10q26.3	2012-10-02			ENSG00000225899	ENSG00000225899			33518	protein-coding gene	gene with protein product						15520407	Standard	NM_001080998		Approved		uc010qvg.2	Q96QU4	OTTHUMG00000019328	ENST00000425520.1:c.133A>T	10.37:g.135440114T>A	ENSP00000401310:p.Lys45*						p.K45*	NM_001080998	NP_001074467	Q96QU4	FRG2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	1	186	-		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)	45					Q5VSQ1	Nonsense_Mutation	SNP	ENST00000425520.1	37	c.133A>T	CCDS44502.1	.	.	.	.	.	.	.	.	.	.	.	11.56	1.675855	0.29783	.	.	ENSG00000225899	ENST00000443774;ENST00000425520	.	.	.	0.109	0.109	0.14578	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.4605	.	.	.	.	.	.	.	X	45	.	ENSP00000401310:K45X	K	-	1	0	FRG2B	135290104	0.931000	0.31567	0.014000	0.15608	0.015000	0.08874	0.735000	0.26115	0.156000	0.19299	0.155000	0.16302	AAG		0.507	FRG2B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467780.1	NM_001080998		12	33	0	0	0	0.004007	0	12	33				
NLRP6	171389	broad.mit.edu	37	11	281085	281085	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:281085G>C	ENST00000312165.5	+	4	1351	c.1351G>C	c.(1351-1353)Gag>Cag	p.E451Q	NLRP6_ENST00000534750.1_Missense_Mutation_p.E451Q	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	451	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)	p.E451K(1)		breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CCTGGCCCGCGAGGGCGTCCT	0.627																																							uc010qvs.1		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|skin(1)	2						c.(1351-1353)GAG>CAG		NLR family, pyrin domain containing 6							54.0	61.0	59.0					11																	281085		2201	4298	6499	SO:0001583	missense	171389					cytoplasm	ATP binding	g.chr11:281085G>C	AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"""Nucleotide-binding domain and leucine rich repeat containing"""	22944	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"""	609650	"""NACHT, leucine rich repeat and PYD containing 6"""	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.1351G>C	11.37:g.281085G>C	ENSP00000309767:p.Glu451Gln					NLRP6_uc010qvt.1_Missense_Mutation_p.E451Q	p.E451Q	NM_138329	NP_612202	P59044	NALP6_HUMAN		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)	4	1351	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	451			NACHT.		A8K9F3|E9PJZ8	Missense_Mutation	SNP	ENST00000312165.5	37	c.1351G>C	CCDS7693.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.448098	0.26074	.	.	ENSG00000174885	ENST00000534750;ENST00000312165	T;T	0.77489	-1.1;-1.09	3.08	0.0837	0.14434	NACHT nucleoside triphosphatase (1);	0.401401	0.18383	N	0.142907	T	0.68366	0.2993	L	0.55990	1.75	0.09310	N	1	B;B	0.24186	0.017;0.099	B;B	0.28553	0.051;0.091	T	0.55398	-0.8147	10	0.30078	T	0.28	.	7.0921	0.25289	0.3457:0.0:0.6543:0.0	.	451;451	E9PJZ8;P59044	.;NALP6_HUMAN	Q	451	ENSP00000433617:E451Q;ENSP00000309767:E451Q	ENSP00000309767:E451Q	E	+	1	0	NLRP6	271085	0.000000	0.05858	0.167000	0.22817	0.849000	0.48306	-0.128000	0.10531	0.021000	0.15133	-0.463000	0.05309	GAG		0.627	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		14	28	0	0	0	0.00245	0	14	28				
IFITM2	10581	broad.mit.edu	37	11	309045	309045	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:309045C>T	ENST00000399817.4	+	2	309	c.279C>T	c.(277-279)acC>acT	p.T93T	IFITM2_ENST00000602569.1_Silent_p.T73T|IFITM2_ENST00000533141.1_Silent_p.T73T|RP11-326C3.7_ENST00000526612.1_RNA	NM_006435.2	NP_006426.2	Q01629	IFM2_HUMAN	interferon induced transmembrane protein 2	93					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-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;5.73e-28)|Epithelial(43;3.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.14e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0328)|LUSC - Lung squamous cell carcinoma(625;0.122)		GCGACGTGACCGGGGCCCAGG	0.602																																							uc001lox.3		NA																	0					0						c.(277-279)ACC>ACT		interferon induced transmembrane protein 2							63.0	64.0	64.0					11																	309045		1964	4125	6089	SO:0001819	synonymous_variant	10581				response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane	protein binding	g.chr11:309045C>T	X57351	CCDS41583.1	11p15.5	2012-03-13	2012-03-13		ENSG00000185201	ENSG00000185201			5413	protein-coding gene	gene with protein product		605578	"""interferon induced transmembrane protein 2 (1-8D)"""			1906403	Standard	NM_006435		Approved	1-8D	uc001lox.4	Q01629		ENST00000399817.4:c.279C>T	11.37:g.309045C>T							p.T93T	NM_006435	NP_006426	Q01629	IFM2_HUMAN		all cancers(45;5.73e-28)|Epithelial(43;3.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.14e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0328)|LUSC - Lung squamous cell carcinoma(625;0.122)	2	365	+		all_cancers(49;2e-09)|all_epithelial(84;3.36e-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)	93			Cytoplasmic (Potential).		Q6FH82|Q96DA8	Silent	SNP	ENST00000399817.4	37	c.279C>T	CCDS41583.1																																																																																				0.602	IFITM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383591.1	NM_006435		4	33	0	0	0	0.008291	0	4	33				
TRPM5	29850	broad.mit.edu	37	11	2441587	2441587	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:2441587G>T	ENST00000155858.6	-	4	522	c.514C>A	c.(514-516)Ccc>Acc	p.P172T	TRPM5_ENST00000452833.1_Missense_Mutation_p.P174T|TRPM5_ENST00000528453.1_Missense_Mutation_p.P172T|TRPM5_ENST00000533060.1_Missense_Mutation_p.P172T	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5											breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GAACAGAGGGGGCCCTGGCTG	0.667																																					NSCLC(1;49 61 17205 18850 43201)	NSCLC(1;49 61 17205 18850 43201)	uc001lwm.3		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(514-516)CCC>ACC		transient receptor potential cation channel,							60.0	63.0	62.0					11																	2441587		2202	4298	6500	SO:0001583	missense	29850					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity	g.chr11:2441587G>T	AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.514C>A	11.37:g.2441587G>T	ENSP00000155858:p.Pro172Thr					TRPM5_uc010qxl.1_Missense_Mutation_p.P172T|TRPM5_uc009ydn.2_Missense_Mutation_p.P174T	p.P172T	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)	4	523	-		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)	172			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000155858.6	37	c.514C>A	CCDS31340.1	.	.	.	.	.	.	.	.	.	.	G	8.584	0.882924	0.17467	.	.	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453;ENST00000437542	T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34	4.5	2.42	0.29668	.	0.265582	0.31577	N	0.007411	T	0.29458	0.0734	L	0.51422	1.61	0.32357	N	0.557629	P;B;B	0.36974	0.576;0.433;0.014	B;B;B	0.36845	0.234;0.234;0.067	T	0.35773	-0.9775	10	0.23302	T	0.38	-30.3328	10.543	0.45043	0.0:0.1431:0.7092:0.1477	.	172;174;172	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	T	166;172;174;172;172;172	ENSP00000434383:P166T;ENSP00000155858:P172T;ENSP00000387965:P174T;ENSP00000434121:P172T;ENSP00000436809:P172T	ENSP00000155858:P172T	P	-	1	0	TRPM5	2398163	1.000000	0.71417	0.998000	0.56505	0.010000	0.07245	1.591000	0.36665	0.983000	0.38602	0.491000	0.48974	CCC		0.667	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000027378.1	NM_014555		17	30	1	0	1.33834e-09	0.007413	1.82244e-09	17	30				
OR52K2	119774	broad.mit.edu	37	11	4470617	4470617	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:4470617G>T	ENST00000325719.4	+	1	93	c.48G>T	c.(46-48)ttG>ttT	p.L16F	AC010930.1_ENST00000408103.1_RNA	NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	16						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCTTCTTGTTGGTGGGGATTC	0.517																																							uc001lyz.1		NA																	0				skin(2)	2						c.(46-48)TTG>TTT		olfactory receptor, family 52, subfamily K,							141.0	121.0	128.0					11																	4470617		2201	4298	6499	SO:0001583	missense	119774				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4470617G>T	AB065791	CCDS31351.1	11p15.4	2012-08-09			ENSG00000181963	ENSG00000181963		"""GPCR / Class A : Olfactory receptors"""	15223	protein-coding gene	gene with protein product							Standard	NM_001005172		Approved		uc001lyz.2	Q8NGK3	OTTHUMG00000165703	ENST00000325719.4:c.48G>T	11.37:g.4470617G>T	ENSP00000318956:p.Leu16Phe						p.L16F	NM_001005172	NP_001005172	Q8NGK3	O52K2_HUMAN		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	48	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	16			Extracellular (Potential).		A8MUY8|B2RP35|Q6IFK4	Missense_Mutation	SNP	ENST00000325719.4	37	c.48G>T	CCDS31351.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.798456	0.31777	.	.	ENSG00000181963	ENST00000325719	T	0.00554	6.64	4.51	0.303	0.15791	.	0.000000	0.37809	N	0.001930	T	0.01730	0.0055	M	0.85945	2.785	0.23589	N	0.997345	D	0.89917	1.0	D	0.85130	0.997	T	0.33163	-0.9879	10	0.87932	D	0	.	5.6177	0.17440	0.2576:0.0:0.5999:0.1424	.	16	Q8NGK3	O52K2_HUMAN	F	16	ENSP00000318956:L16F	ENSP00000318956:L16F	L	+	3	2	OR52K2	4427193	0.001000	0.12720	0.965000	0.40720	0.231000	0.25187	-0.215000	0.09279	0.521000	0.28445	0.561000	0.74099	TTG		0.517	OR52K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385844.1	NM_001005172		16	36	1	0	4.96729e-08	0.008871	6.42292e-08	16	36				
OR52R1	119695	broad.mit.edu	37	11	4825366	4825366	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:4825366G>T	ENST00000356069.2	-	1	244	c.245C>A	c.(244-246)cCt>cAt	p.P82H	OR52R1_ENST00000380382.1_Missense_Mutation_p.P161H|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005177.3	NP_001005177.3	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	82						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAACATCTTAGGTTGAGTGGA	0.498																																							uc010qym.1		NA																	0				skin(1)	1						c.(481-483)CCT>CAT		olfactory receptor, family 52, subfamily R,							130.0	115.0	120.0					11																	4825366		2201	4298	6499	SO:0001583	missense	119695				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4825366G>T	BK004282	CCDS31360.1, CCDS31360.2	11p15.4	2012-08-09			ENSG00000176937	ENSG00000176937		"""GPCR / Class A : Olfactory receptors"""	15235	protein-coding gene	gene with protein product							Standard	NM_001005177		Approved		uc021qcs.1	Q8NGF1	OTTHUMG00000066510	ENST00000356069.2:c.245C>A	11.37:g.4825366G>T	ENSP00000348368:p.Pro82His						p.P161H	NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	482	-		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)	82			Extracellular (Potential).		Q6IFI0	Missense_Mutation	SNP	ENST00000356069.2	37	c.482C>A	CCDS31360.2	.	.	.	.	.	.	.	.	.	.	G	23.7	4.452015	0.84209	.	.	ENSG00000176937	ENST00000356069;ENST00000380382	T;T	0.01871	4.59;4.59	5.57	5.57	0.84162	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000154	T	0.21186	0.0510	H	0.94886	3.595	0.54753	D	0.999982	D	0.89917	1.0	D	0.91635	0.999	T	0.03034	-1.1080	10	0.87932	D	0	.	18.291	0.90130	0.0:0.0:1.0:0.0	.	82	Q8NGF1	O52R1_HUMAN	H	82;161	ENSP00000348368:P82H;ENSP00000369742:P161H	ENSP00000348368:P82H	P	-	2	0	OR52R1	4781942	1.000000	0.71417	0.974000	0.42286	0.931000	0.56810	6.295000	0.72744	2.902000	0.99343	0.650000	0.86243	CCT		0.498	OR52R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142183.1	NM_001005177		17	43	1	0	3.41278e-10	0.00499	4.72955e-10	17	43				
OR51G1	79324	broad.mit.edu	37	11	4944844	4944844	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:4944844G>T	ENST00000321961.2	-	1	793	c.726C>A	c.(724-726)acC>acA	p.T242T	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	242						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(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAGAGACACAGGTGTTGAGGG	0.552																																							uc010qyr.1		NA																	0				ovary(1)|skin(1)	2						c.(724-726)ACC>ACA		olfactory receptor, family 51, subfamily G,							162.0	125.0	137.0					11																	4944844		2201	4298	6499	SO:0001819	synonymous_variant	79324				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4944844G>T	AB065793	CCDS31366.1	11p15.4	2012-08-09			ENSG00000176879	ENSG00000176879		"""GPCR / Class A : Olfactory receptors"""	14738	protein-coding gene	gene with protein product				OR51G3P			Standard	NM_001005237		Approved		uc010qyr.2	Q8NGK1	OTTHUMG00000066532	ENST00000321961.2:c.726C>A	11.37:g.4944844G>T							p.T242T	NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	726	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	242			Helical; Name=6; (Potential).		B9EGW8|Q6IFH6	Silent	SNP	ENST00000321961.2	37	c.726C>A	CCDS31366.1																																																																																				0.552	OR51G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142345.1	NM_001005237		15	76	1	0	8.28177e-16	0.007413	1.30317e-15	15	76				
MMP26	56547	broad.mit.edu	37	11	5012612	5012612	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:5012612G>T	ENST00000380390.1	+	5	697	c.481G>T	c.(481-483)Ggt>Tgt	p.G161C	MMP26_ENST00000300762.1_Missense_Mutation_p.G161C			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	161					collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	Marimastat(DB00786)	CCATGAAGATGGTTGGCCCTT	0.458																																							uc001lzv.2		NA																	0					0						c.(481-483)GGT>TGT		matrix metalloproteinase 26 preproprotein							300.0	290.0	293.0					11																	5012612		2201	4298	6499	SO:0001583	missense	56547				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:5012612G>T	AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"""matrilysin 2"""	605470	"""matrix metalloproteinase 26"""			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.481G>T	11.37:g.5012612G>T	ENSP00000369753:p.Gly161Cys						p.G161C	NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	4	499	+		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)	161					Q3MJ78|Q9GZS2|Q9NR87	Missense_Mutation	SNP	ENST00000380390.1	37	c.481G>T	CCDS7752.1	.	.	.	.	.	.	.	.	.	.	G	0.337	-0.952576	0.02285	.	.	ENSG00000167346	ENST00000380390;ENST00000300762	T;T	0.51071	0.72;0.72	3.93	-0.509	0.11977	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	1.016910	0.07926	N	0.976813	T	0.31827	0.0809	N	0.21545	0.675	0.09310	N	1	B	0.16396	0.017	B	0.22753	0.041	T	0.26360	-1.0105	10	0.35671	T	0.21	.	6.7408	0.23435	0.0913:0.0:0.2983:0.6104	.	161	Q9NRE1	MMP26_HUMAN	C	161	ENSP00000369753:G161C;ENSP00000300762:G161C	ENSP00000300762:G161C	G	+	1	0	MMP26	4969188	0.000000	0.05858	0.007000	0.13788	0.007000	0.05969	-2.423000	0.01030	-0.518000	0.06452	-0.152000	0.13540	GGT		0.458	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142058.3	NM_021801		86	162	1	0	7.62712e-44	0.00361	1.40365e-43	86	162				
OR51B5	282763	broad.mit.edu	37	11	5364143	5364143	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:5364143T>C	ENST00000300773.2	-	1	666	c.612A>G	c.(610-612)atA>atG	p.I204M	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	204					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCAGCACAAATATAAAGACTA	0.453																																							uc001map.1		NA																	0				skin(1)	1						c.(610-612)ATA>ATG		olfactory receptor, family 51, subfamily B,							102.0	106.0	105.0					11																	5364143		2201	4297	6498	SO:0001583	missense	282763				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5364143T>C	BK004430	CCDS31378.1	11p15.4	2012-08-09			ENSG00000242180	ENSG00000242180		"""GPCR / Class A : Olfactory receptors"""	19599	protein-coding gene	gene with protein product							Standard	NM_001005567		Approved		uc001maq.2	Q9H339	OTTHUMG00000066676	ENST00000300773.2:c.612A>G	11.37:g.5364143T>C	ENSP00000300773:p.Ile204Met					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	p.I204M	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	612	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	204			Helical; Name=5; (Potential).		B2RN59	Missense_Mutation	SNP	ENST00000300773.2	37	c.612A>G	CCDS31378.1	.	.	.	.	.	.	.	.	.	.	T	4.090	0.014597	0.07959	.	.	ENSG00000242180	ENST00000300773	T	0.00137	8.68	4.92	-5.54	0.02544	GPCR, rhodopsin-like superfamily (1);	0.150207	0.29830	N	0.011093	T	0.00073	0.0002	N	0.10782	0.045	0.09310	N	1	B	0.18310	0.027	B	0.17098	0.017	T	0.46428	-0.9192	10	0.54805	T	0.06	.	2.4257	0.04459	0.1602:0.1716:0.4395:0.2287	.	204	Q9H339	O51B5_HUMAN	M	204	ENSP00000300773:I204M	ENSP00000300773:I204M	I	-	3	3	OR51B5	5320719	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-2.382000	0.01064	-0.640000	0.05495	0.529000	0.55759	ATA		0.453	OR51B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142975.1	NM_001005567		35	52	0	0	0	0.003755	0	35	52				
OR51Q1	390061	broad.mit.edu	37	11	5443647	5443647	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:5443647C>A	ENST00000300778.4	+	1	307	c.217C>A	c.(217-219)Ctg>Atg	p.L73M	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	73						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L73M(2)|p.D72_L73>EM(1)		endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTGACGGACCTGGGTCTCAC	0.532																																							uc010qzd.1		NA																	3	Substitution - Missense(2)|Complex - compound substitution(1)		lung(3)	ovary(1)	1						c.(217-219)CTG>ATG		olfactory receptor, family 51, subfamily Q,							209.0	184.0	192.0					11																	5443647		2201	4297	6498	SO:0001583	missense	390061				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5443647C>A	AB065531	CCDS31381.1	11p15.4	2013-10-10	2013-10-10		ENSG00000167360	ENSG00000167360		"""GPCR / Class A : Olfactory receptors"""	14851	protein-coding gene	gene with protein product			"""olfactory receptor, family 51, subfamily Q, member 1"""				Standard	NM_001004757		Approved		uc010qzd.2	Q8NH59	OTTHUMG00000066896	ENST00000300778.4:c.217C>A	11.37:g.5443647C>A	ENSP00000300778:p.Leu73Met					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.L73M	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	217	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	73			Helical; Name=2; (Potential).		B2RNN1	Missense_Mutation	SNP	ENST00000300778.4	37	c.217C>A	CCDS31381.1	.	.	.	.	.	.	.	.	.	.	C	8.253	0.809439	0.16537	.	.	ENSG00000167360	ENST00000300778	T	0.04706	3.57	4.86	4.86	0.63082	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45606	D	0.000350	T	0.15912	0.0383	M	0.71581	2.175	0.40672	D	0.982225	D	0.89917	1.0	D	0.91635	0.999	T	0.00448	-1.1733	10	0.39692	T	0.17	.	6.9778	0.24686	0.0:0.7315:0.177:0.0915	.	73	Q8NH59	O51Q1_HUMAN	M	73	ENSP00000300778:L73M	ENSP00000300778:L73M	L	+	1	2	OR51Q1	5400223	0.469000	0.25846	1.000000	0.80357	0.089000	0.18198	0.020000	0.13466	2.571000	0.86741	0.089000	0.15464	CTG		0.532	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143373.1	NM_001004757		16	80	1	0	3.51602e-12	0.008871	5.14092e-12	16	80				
OR51I2	390064	broad.mit.edu	37	11	5474794	5474794	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:5474794T>A	ENST00000341449.2	+	1	157	c.76T>A	c.(76-78)Tgg>Agg	p.W26R	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	26					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCTCACTCCTGGCTGTCAGG	0.547																																							uc010qzf.1		NA																	0				ovary(2)|skin(2)	4						c.(76-78)TGG>AGG		olfactory receptor, family 51, subfamily I,							110.0	94.0	99.0					11																	5474794		2201	4297	6498	SO:0001583	missense	390064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5474794T>A	BK004381	CCDS31383.1	11p15.4	2012-08-09			ENSG00000187918	ENSG00000187918		"""GPCR / Class A : Olfactory receptors"""	15201	protein-coding gene	gene with protein product							Standard	NM_001004754		Approved		uc010qzf.2	Q9H344	OTTHUMG00000066902	ENST00000341449.2:c.76T>A	11.37:g.5474794T>A	ENSP00000341987:p.Trp26Arg					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.W26R	NM_001004754	NP_001004754	Q9H344	O51I2_HUMAN		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	76	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	26			Helical; Name=1; (Potential).		Q6IF81	Missense_Mutation	SNP	ENST00000341449.2	37	c.76T>A	CCDS31383.1	.	.	.	.	.	.	.	.	.	.	T	15.98	2.991492	0.54041	.	.	ENSG00000187918	ENST00000341449	T	0.00321	8.11	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000010	T	0.00875	0.0029	H	0.94734	3.575	0.33705	D	0.614992	D	0.60160	0.987	P	0.59221	0.854	T	0.23583	-1.0184	10	0.87932	D	0	.	14.7227	0.69320	0.0:0.0:0.0:1.0	.	26	Q9H344	O51I2_HUMAN	R	26	ENSP00000341987:W26R	ENSP00000341987:W26R	W	+	1	0	OR51I2	5431370	0.946000	0.32159	0.971000	0.41717	0.647000	0.38526	1.352000	0.34033	2.343000	0.79666	0.533000	0.62120	TGG		0.547	OR51I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143385.1	NM_001004754		10	40	0	0	0	0.003163	0	10	40				
OR51I2	390064	broad.mit.edu	37	11	5474804	5474804	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:5474804G>A	ENST00000341449.2	+	1	167	c.86G>A	c.(85-87)gGg>gAg	p.G29E	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	29					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGCTGTCAGGGCCCCTCTGC	0.547																																							uc010qzf.1		NA																	0				ovary(2)|skin(2)	4						c.(85-87)GGG>GAG		olfactory receptor, family 51, subfamily I,							110.0	94.0	99.0					11																	5474804		2201	4297	6498	SO:0001583	missense	390064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5474804G>A	BK004381	CCDS31383.1	11p15.4	2012-08-09			ENSG00000187918	ENSG00000187918		"""GPCR / Class A : Olfactory receptors"""	15201	protein-coding gene	gene with protein product							Standard	NM_001004754		Approved		uc010qzf.2	Q9H344	OTTHUMG00000066902	ENST00000341449.2:c.86G>A	11.37:g.5474804G>A	ENSP00000341987:p.Gly29Glu					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.G29E	NM_001004754	NP_001004754	Q9H344	O51I2_HUMAN		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	86	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	29			Helical; Name=1; (Potential).		Q6IF81	Missense_Mutation	SNP	ENST00000341449.2	37	c.86G>A	CCDS31383.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.853066	0.32699	.	.	ENSG00000187918	ENST00000341449	T	0.00321	8.11	5.58	2.52	0.30459	.	0.310879	0.28549	N	0.014953	T	0.00300	0.0009	M	0.73319	2.225	0.09310	N	1	B	0.33448	0.412	B	0.34722	0.188	T	0.32025	-0.9922	10	0.87932	D	0	.	13.8761	0.63653	0.0:0.0:0.4202:0.5798	.	29	Q9H344	O51I2_HUMAN	E	29	ENSP00000341987:G29E	ENSP00000341987:G29E	G	+	2	0	OR51I2	5431380	0.026000	0.19158	0.202000	0.23494	0.084000	0.17831	2.190000	0.42630	0.874000	0.35823	0.655000	0.94253	GGG		0.547	OR51I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143385.1	NM_001004754		9	39	0	0	0	0.003163	0	9	39				
OR52N4	390072	broad.mit.edu	37	11	5776462	5776462	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:5776462C>T	ENST00000317254.3	+	1	540	c.492C>T	c.(490-492)ctC>ctT	p.L164L	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	164						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		TTACTTTCCTCACCAAGCTCC	0.463																																							uc001mbu.2		NA																	0				ovary(1)|skin(1)	2						c.(490-492)CTC>CTT		olfactory receptor, family 52, subfamily N,							147.0	141.0	143.0					11																	5776462		2195	4297	6492	SO:0001819	synonymous_variant	390072				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5776462C>T	AB065813	CCDS44528.1	11p15.4	2013-10-10	2013-10-10		ENSG00000181074	ENSG00000181074		"""GPCR / Class A : Olfactory receptors"""	15230	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily N, member 4"""				Standard	NM_001005175		Approved		uc001mbu.3	Q8NGI2	OTTHUMG00000066887	ENST00000317254.3:c.492C>T	11.37:g.5776462C>T						TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	p.L164L	NM_001005175	NP_001005175	Q8NGI2	O52N4_HUMAN		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)	1	540	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	164			Extracellular (Potential).		B2RNP8|Q6IF77	Silent	SNP	ENST00000317254.3	37	c.492C>T	CCDS44528.1																																																																																				0.463	OR52N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143350.1	NM_001005175		27	50	0	0	0	0.002836	0	27	50				
OR56A1	120796	broad.mit.edu	37	11	6048549	6048549	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:6048549C>A	ENST00000316650.5	-	1	422	c.386G>T	c.(385-387)cGt>cTt	p.R129L		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	129						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCACATAACGGTCATAGGC	0.507																																							uc010qzw.1		NA																	0				ovary(2)|breast(1)	3						c.(385-387)CGT>CTT		olfactory receptor, family 56, subfamily A,							127.0	105.0	112.0					11																	6048549		2201	4296	6497	SO:0001583	missense	120796				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6048549C>A	AB065821	CCDS31405.1	11p15.4	2012-08-09			ENSG00000180934	ENSG00000180934		"""GPCR / Class A : Olfactory receptors"""	14781	protein-coding gene	gene with protein product							Standard	NM_001001917		Approved		uc010qzw.2	Q8NGH5	OTTHUMG00000165377	ENST00000316650.5:c.386G>T	11.37:g.6048549C>A	ENSP00000321246:p.Arg129Leu						p.R129L	NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	386	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	129			Cytoplasmic (Potential).		B2RNI2|Q6IFL0	Missense_Mutation	SNP	ENST00000316650.5	37	c.386G>T	CCDS31405.1	.	.	.	.	.	.	.	.	.	.	C	9.481	1.098078	0.20552	.	.	ENSG00000180934	ENST00000316650	T	0.77358	-1.09	4.16	2.27	0.28462	GPCR, rhodopsin-like superfamily (1);	0.161506	0.29218	N	0.012783	D	0.84000	0.5376	H	0.97315	3.98	0.23501	N	0.997541	B	0.20780	0.048	B	0.24974	0.057	T	0.78380	-0.2226	10	0.87932	D	0	.	9.2606	0.37610	0.0:0.8182:0.0:0.1818	.	129	Q8NGH5	O56A1_HUMAN	L	129	ENSP00000321246:R129L	ENSP00000321246:R129L	R	-	2	0	OR56A1	6005125	0.999000	0.42202	0.978000	0.43139	0.002000	0.02628	3.913000	0.56394	0.511000	0.28236	-0.136000	0.14681	CGT		0.507	OR56A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383757.1	NM_001001917		9	37	1	0	5.4927e-09	0.004482	7.31868e-09	9	37				
CNGA4	1262	broad.mit.edu	37	11	6261363	6261363	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:6261363G>T	ENST00000379936.2	+	4	454	c.339G>T	c.(337-339)tgG>tgT	p.W113C	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	113					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCGCACCTGGAGTTTCTTCT	0.617																																							uc001mco.2		NA																	0				skin(1)	1						c.(337-339)TGG>TGT		cyclic nucleotide gated channel alpha 4							136.0	129.0	131.0					11																	6261363		2201	4296	6497	SO:0001583	missense	1262				response to stimulus|sensory perception of smell		cAMP binding	g.chr11:6261363G>T	AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2152	protein-coding gene	gene with protein product		609472	"""cyclic nucleotide gated channel beta 2"""	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.339G>T	11.37:g.6261363G>T	ENSP00000369268:p.Trp113Cys					CNGA4_uc010raa.1_Intron|CNGA4_uc001mcn.2_Missense_Mutation_p.W73C	p.W113C	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	4	446	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	113			Helical; Name=H3; (Potential).			Missense_Mutation	SNP	ENST00000379936.2	37	c.339G>T	CCDS31408.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.311549	0.23821	.	.	ENSG00000132259	ENST00000379936	D	0.98028	-4.67	5.15	3.14	0.36123	Ion transport (1);	0.413516	0.25052	N	0.033514	D	0.94981	0.8376	M	0.70275	2.135	0.46131	D	0.998889	B;P	0.43231	0.046;0.801	B;B	0.35240	0.102;0.198	D	0.92663	0.6143	10	0.38643	T	0.18	.	7.2088	0.25921	0.0973:0.334:0.5688:0.0	.	113;73	Q8IV77;Q8IV77-2	CNGA4_HUMAN;.	C	113	ENSP00000369268:W113C	ENSP00000369268:W113C	W	+	3	0	CNGA4	6217939	0.000000	0.05858	1.000000	0.80357	0.915000	0.54546	-0.081000	0.11321	2.549000	0.85964	0.655000	0.94253	TGG		0.617	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383765.2	NM_001037329		17	100	1	0	2.94398e-08	0.007413	3.84684e-08	17	100				
CNGA4	1262	broad.mit.edu	37	11	6262679	6262679	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:6262679C>A	ENST00000379936.2	+	5	1051	c.936C>A	c.(934-936)atC>atA	p.I312I	CNGA4_ENST00000533426.1_Silent_p.I81I	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	312					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCTGCAGATCAACAAGAAGA	0.562																																							uc001mco.2		NA																	0				skin(1)	1						c.(934-936)ATC>ATA		cyclic nucleotide gated channel alpha 4							100.0	91.0	94.0					11																	6262679		2201	4296	6497	SO:0001819	synonymous_variant	1262				response to stimulus|sensory perception of smell		cAMP binding	g.chr11:6262679C>A	AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2152	protein-coding gene	gene with protein product		609472	"""cyclic nucleotide gated channel beta 2"""	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.936C>A	11.37:g.6262679C>A						CNGA4_uc010raa.1_Silent_p.I81I|CNGA4_uc001mcn.2_Silent_p.I272I	p.I312I	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	5	1043	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	312			Cytoplasmic (Potential).			Silent	SNP	ENST00000379936.2	37	c.936C>A	CCDS31408.1																																																																																				0.562	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383765.2	NM_001037329		11	57	1	0	3.86212e-05	0.008291	4.42789e-05	11	57				
OR10A2	341276	broad.mit.edu	37	11	6891001	6891001	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:6891001C>A	ENST00000307322.4	+	1	78	c.16C>A	c.(16-18)Ctg>Atg	p.L6M		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	6						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CTTCTCTTCCCTGCCTACTGA	0.443																																							uc001meu.1		NA																	0				breast(1)	1						c.(16-18)CTG>ATG		olfactory receptor, family 10, subfamily A,							193.0	194.0	194.0					11																	6891001		2201	4296	6497	SO:0001583	missense	341276				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6891001C>A	BK004293	CCDS31415.1	11p15.4	2012-08-09		2004-03-10	ENSG00000170790	ENSG00000170790		"""GPCR / Class A : Olfactory receptors"""	8161	protein-coding gene	gene with protein product				OR10A2P			Standard	NM_001004460		Approved	OST363	uc001meu.1	Q9H208	OTTHUMG00000165739	ENST00000307322.4:c.16C>A	11.37:g.6891001C>A	ENSP00000303862:p.Leu6Met						p.L6M	NM_001004460	NP_001004460	Q9H208	O10A2_HUMAN		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	1	16	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	6			Extracellular (Potential).		B2RNL9|Q6IFG9	Missense_Mutation	SNP	ENST00000307322.4	37	c.16C>A	CCDS31415.1	.	.	.	.	.	.	.	.	.	.	C	5.512	0.279453	0.10458	.	.	ENSG00000170790	ENST00000307322	T	0.00554	6.64	4.45	0.131	0.14755	.	0.000000	0.39759	N	0.001273	T	0.01222	0.0040	M	0.69185	2.1	0.09310	N	1	D	0.69078	0.997	D	0.70935	0.971	T	0.47861	-0.9084	10	0.62326	D	0.03	.	4.5413	0.12058	0.0:0.4423:0.157:0.4006	.	6	Q9H208	O10A2_HUMAN	M	6	ENSP00000303862:L6M	ENSP00000303862:L6M	L	+	1	2	OR10A2	6847577	0.000000	0.05858	0.142000	0.22268	0.004000	0.04260	-1.006000	0.03671	-0.055000	0.13244	-0.781000	0.03364	CTG		0.443	OR10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385984.1	NM_001004460		27	149	1	0	7.11191e-15	0.002836	1.0925e-14	27	149				
OR10A2	341276	broad.mit.edu	37	11	6891503	6891503	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:6891503G>A	ENST00000307322.4	+	1	580	c.518G>A	c.(517-519)aGg>aAg	p.R173K		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	173				R -> K (in Ref. 4; AAK95109). {ECO:0000305}.		integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCTGTGCTGAGGCTGGTCTGT	0.507																																							uc001meu.1		NA																	0				breast(1)	1						c.(517-519)AGG>AAG		olfactory receptor, family 10, subfamily A,							191.0	158.0	169.0					11																	6891503		2201	4296	6497	SO:0001583	missense	341276				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6891503G>A	BK004293	CCDS31415.1	11p15.4	2012-08-09		2004-03-10	ENSG00000170790	ENSG00000170790		"""GPCR / Class A : Olfactory receptors"""	8161	protein-coding gene	gene with protein product				OR10A2P			Standard	NM_001004460		Approved	OST363	uc001meu.1	Q9H208	OTTHUMG00000165739	ENST00000307322.4:c.518G>A	11.37:g.6891503G>A	ENSP00000303862:p.Arg173Lys						p.R173K	NM_001004460	NP_001004460	Q9H208	O10A2_HUMAN		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	1	518	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	173	R -> K (in Ref. 4; AAK95109).		Extracellular (Potential).		B2RNL9|Q6IFG9	Missense_Mutation	SNP	ENST00000307322.4	37	c.518G>A	CCDS31415.1	.	.	.	.	.	.	.	.	.	.	g	0.888	-0.726545	0.03158	.	.	ENSG00000170790	ENST00000307322	T	0.00016	9.13	4.14	-2.4	0.06583	GPCR, rhodopsin-like superfamily (1);	0.386873	0.25280	N	0.031805	T	0.00039	0.0001	N	0.00815	-1.16	0.22620	N	0.998928	B	0.02656	0.0	B	0.04013	0.001	T	0.40040	-0.9584	10	0.02654	T	1	.	9.7558	0.40502	0.6387:0.0:0.3613:0.0	.	173	Q9H208	O10A2_HUMAN	K	173	ENSP00000303862:R173K	ENSP00000303862:R173K	R	+	2	0	OR10A2	6848079	0.000000	0.05858	0.986000	0.45419	0.922000	0.55478	-0.974000	0.03794	-0.362000	0.08113	-0.201000	0.12746	AGG		0.507	OR10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385984.1	NM_001004460		5	94	0	0	0	0.000602	0	5	94				
OR10A4	283297	broad.mit.edu	37	11	6898039	6898039	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:6898039C>A	ENST00000379829.2	+	1	184	c.161C>A	c.(160-162)tCt>tAt	p.S54Y		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	54					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ATAGCTGACTCTGCACTACAA	0.453																																							uc010rat.1		NA																	0				ovary(1)	1						c.(160-162)TCT>TAT		olfactory receptor, family 10, subfamily A,							191.0	179.0	183.0					11																	6898039		2201	4296	6497	SO:0001583	missense	283297				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6898039C>A	AF209506	CCDS7774.1	11p15.4	2012-08-09	2002-11-13	2004-03-10	ENSG00000170782	ENSG00000170782		"""GPCR / Class A : Olfactory receptors"""	15130	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily A, member 4 pseudogene"""	OR10A4P			Standard	NM_207186		Approved		uc010rat.2	Q9H209	OTTHUMG00000165740	ENST00000379829.2:c.161C>A	11.37:g.6898039C>A	ENSP00000369157:p.Ser54Tyr						p.S54Y	NM_207186	NP_997069	Q9H209	O10A4_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	161	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	54			Cytoplasmic (Potential).		B2RNP5|B9EH36|Q96R20	Missense_Mutation	SNP	ENST00000379829.2	37	c.161C>A	CCDS7774.1	.	.	.	.	.	.	.	.	.	.	c	8.781	0.928355	0.18131	.	.	ENSG00000170782	ENST00000379829	T	0.01106	5.33	4.91	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44483	D	0.000446	T	0.02533	0.0077	L	0.56199	1.76	0.09310	N	1	P	0.43973	0.823	P	0.47891	0.56	T	0.36311	-0.9753	10	0.62326	D	0.03	.	10.9536	0.47345	0.1866:0.8134:0.0:0.0	.	54	Q9H209	O10A4_HUMAN	Y	54	ENSP00000369157:S54Y	ENSP00000369157:S54Y	S	+	2	0	OR10A4	6854615	0.000000	0.05858	0.986000	0.45419	0.021000	0.10359	0.541000	0.23207	2.716000	0.92895	0.655000	0.94253	TCT		0.453	OR10A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385985.1	NM_207186		26	103	1	0	8.4185e-14	0.002445	1.26448e-13	26	103				
ZNF214	7761	broad.mit.edu	37	11	7021487	7021487	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:7021487C>A	ENST00000278314.4	-	3	1742	c.1427G>T	c.(1426-1428)gGg>gTg	p.G476V	ZNF214_ENST00000531083.1_5'Flank|ZNF214_ENST00000536068.1_Missense_Mutation_p.G476V	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	476					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		GAAGCCCTTCCCACATTCAGG	0.443																																					Ovarian(22;251 657 736 21522 46864)	Ovarian(22;251 657 736 21522 46864)	uc001mfa.2		NA																	0				skin(1)	1						c.(1426-1428)GGG>GTG		zinc finger protein 214							97.0	102.0	100.0					11																	7021487		2201	4295	6496	SO:0001583	missense	7761				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:7021487C>A	AF056617	CCDS31418.1	11p15.4	2013-01-08				ENSG00000149050		"""Zinc fingers, C2H2-type"", ""-"""	13006	protein-coding gene	gene with protein product		605015					Standard	NM_013249		Approved		uc001mfa.2	Q9UL59		ENST00000278314.4:c.1427G>T	11.37:g.7021487C>A	ENSP00000278314:p.Gly476Val					ZNF214_uc010ray.1_Missense_Mutation_p.G476V|ZNF214_uc009yfh.1_Missense_Mutation_p.G476V	p.G476V	NM_013249	NP_037381	Q9UL59	ZN214_HUMAN		Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)	3	1730	-			476			C2H2-type 8.		B2R8Q1	Missense_Mutation	SNP	ENST00000278314.4	37	c.1427G>T	CCDS31418.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.802033	0.50315	.	.	ENSG00000149050	ENST00000278314;ENST00000536068	T;T	0.58358	0.34;0.34	4.05	3.14	0.36123	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.151699	0.31145	N	0.008166	T	0.67249	0.2873	M	0.91249	3.19	0.49051	D	0.999741	D	0.55605	0.972	P	0.51324	0.666	T	0.74497	-0.3646	10	0.87932	D	0	.	9.8562	0.41088	0.0:0.8972:0.0:0.1028	.	476	Q9UL59	ZN214_HUMAN	V	476	ENSP00000278314:G476V;ENSP00000445373:G476V	ENSP00000278314:G476V	G	-	2	0	ZNF214	6978063	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.533000	0.53561	1.284000	0.44531	0.561000	0.74099	GGG		0.443	ZNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385349.1			10	50	1	0	1.61879e-10	0.001368	2.25599e-10	10	50				
EIF4G2	1982	broad.mit.edu	37	11	10827457	10827457	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:10827457C>G	ENST00000526148.1	-	4	755	c.245G>C	c.(244-246)aGa>aCa	p.R82T	EIF4G2_ENST00000396525.2_Missense_Mutation_p.R82T|EIF4G2_ENST00000339995.5_Missense_Mutation_p.R82T|EIF4G2_ENST00000525681.1_Missense_Mutation_p.R82T|EIF4G2_ENST00000525995.1_5'UTR	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2											NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AACTTACCCTCTTACTTTCCT	0.433																																							uc001mjc.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(244-246)AGA>ACA		eukaryotic translation initiation factor 4							298.0	267.0	278.0					11																	10827457		2201	4294	6495	SO:0001583	missense	1982				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr11:10827457C>G	U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.245G>C	11.37:g.10827457C>G	ENSP00000433664:p.Arg82Thr					EIF4G2_uc001mjb.2_5'UTR|EIF4G2_uc009ygf.2_5'UTR|EIF4G2_uc001mjd.2_Missense_Mutation_p.R82T|EIF4G2_uc001mjf.1_5'UTR	p.R82T	NM_001418	NP_001409	P78344	IF4G2_HUMAN		all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	4	662	-			82			MIF4G.			Missense_Mutation	SNP	ENST00000526148.1	37	c.245G>C	CCDS31428.1	.	.	.	.	.	.	.	.	.	.	C	33	5.230940	0.95207	.	.	ENSG00000110321	ENST00000526148;ENST00000525681;ENST00000339995;ENST00000396525;ENST00000429377;ENST00000531416;ENST00000532082;ENST00000524932;ENST00000527419;ENST00000532570;ENST00000526591;ENST00000530211;ENST00000527526;ENST00000530702	T;T;T;T;T;T;T;T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88	5.48	5.48	0.80851	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.53867	0.1823	M	0.73430	2.235	0.58432	D	0.999999	D;D	0.76494	0.998;0.999	D;D	0.72338	0.954;0.977	T	0.56980	-0.7889	9	0.87932	D	0	.	19.3534	0.94401	0.0:1.0:0.0:0.0	.	82;155	P78344;B4DZF2	IF4G2_HUMAN;.	T	82;82;82;82;155;82;82;82;13;82;82;82;82;60	ENSP00000433664:R82T;ENSP00000433371:R82T;ENSP00000340281:R82T;ENSP00000379778:R82T;ENSP00000431583:R82T;ENSP00000433121:R82T;ENSP00000435523:R82T;ENSP00000434940:R13T;ENSP00000431511:R82T;ENSP00000433335:R82T;ENSP00000436235:R82T;ENSP00000435912:R60T	ENSP00000340281:R82T	R	-	2	0	EIF4G2	10784033	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.563000	0.86464	0.650000	0.86243	AGA		0.433	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	NM_001418		51	124	0	0	0	0.00361	0	51	124				
USH1C	10083	broad.mit.edu	37	11	17553016	17553016	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:17553016C>G	ENST00000318024.4	-	3	286	c.178G>C	c.(178-180)Gat>Cat	p.D60H	USH1C_ENST00000527020.1_Missense_Mutation_p.D60H|USH1C_ENST00000005226.7_Missense_Mutation_p.D60H|USH1C_ENST00000527720.1_Missense_Mutation_p.D29H	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	60	N-terminal domain.				auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CGAATGGCATCAAACAGAGGC	0.617																																							uc001mnf.2		NA																	0				ovary(1)	1						c.(178-180)GAT>CAT		harmonin isoform a							54.0	49.0	51.0					11																	17553016		2200	4293	6493	SO:0001583	missense	10083				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	g.chr11:17553016C>G	AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"""harmonin"""	605242	"""deafness, autosomal recessive 18"""	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.178G>C	11.37:g.17553016C>G	ENSP00000317018:p.Asp60His					USH1C_uc001mne.2_Missense_Mutation_p.D60H|USH1C_uc009yhb.2_Missense_Mutation_p.D60H|USH1C_uc001mng.2_RNA|USH1C_uc001mnd.2_Missense_Mutation_p.D24H	p.D60H	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN			3	287	-			60					A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Missense_Mutation	SNP	ENST00000318024.4	37	c.178G>C	CCDS31438.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.773476	0.90108	.	.	ENSG00000006611	ENST00000318024;ENST00000527720;ENST00000527020;ENST00000005226;ENST00000526181	T;T;T;T;T	0.27557	1.69;1.67;1.9;1.66;2.15	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.42899	0.1223	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;P;D	0.71656	0.974;0.904;0.953	T	0.18871	-1.0323	10	0.44086	T	0.13	.	16.722	0.85412	0.0:1.0:0.0:0.0	.	60;60;60	Q9Y6N9-4;Q9Y6N9;Q7RTU8	.;USH1C_HUMAN;.	H	60;29;60;60;71	ENSP00000317018:D60H;ENSP00000432944:D29H;ENSP00000436934:D60H;ENSP00000005226:D60H;ENSP00000437128:D71H	ENSP00000005226:D60H	D	-	1	0	USH1C	17509592	1.000000	0.71417	0.855000	0.33649	0.972000	0.66771	6.824000	0.75288	2.688000	0.91661	0.561000	0.74099	GAT		0.617	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709		14	17	0	0	0	0.004007	0	14	17				
MRGPRX4	117196	broad.mit.edu	37	11	18194994	18194994	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:18194994A>G	ENST00000314254.3	+	1	611	c.191A>G	c.(190-192)tAc>tGc	p.Y64C	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	64						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						GTCTCCATCTACATCCTCAAC	0.537																																							uc001mnv.1		NA																	0				skin(1)	1						c.(190-192)TAC>TGC		MAS-related GPR, member X4							119.0	101.0	107.0					11																	18194994		2199	4293	6492	SO:0001583	missense	117196					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18194994A>G	AY042216	CCDS7831.1	11p15.1	2013-10-10			ENSG00000179817	ENSG00000179817		"""GPCR / Class A : Orphans"""	17617	protein-coding gene	gene with protein product		607230				11551509	Standard	NM_054032		Approved	MRGX4	uc001mnv.1	Q96LA9	OTTHUMG00000166442	ENST00000314254.3:c.191A>G	11.37:g.18194994A>G	ENSP00000314042:p.Tyr64Cys						p.Y64C	NM_054032	NP_473373	Q96LA9	MRGX4_HUMAN			1	611	+			64			Helical; Name=2; (Potential).		Q3KNU3|Q3KNU4|Q502W0|Q8TDD6|Q8TDD7	Missense_Mutation	SNP	ENST00000314254.3	37	c.191A>G	CCDS7831.1	.	.	.	.	.	.	.	.	.	.	A	17.07	3.295175	0.60086	.	.	ENSG00000179817	ENST00000314254	T	0.75704	-0.96	2.95	2.95	0.34219	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000024	D	0.87212	0.6121	M	0.93016	3.37	0.30295	N	0.789961	D	0.89917	1.0	D	0.97110	1.0	D	0.84095	0.0392	10	0.87932	D	0	.	9.2893	0.37778	1.0:0.0:0.0:0.0	.	64	Q96LA9	MRGX4_HUMAN	C	64	ENSP00000314042:Y64C	ENSP00000314042:Y64C	Y	+	2	0	MRGPRX4	18151570	0.998000	0.40836	0.966000	0.40874	0.278000	0.26855	2.901000	0.48695	1.364000	0.46038	0.418000	0.28097	TAC		0.537	MRGPRX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389788.1	NM_054032		8	44	0	0	0	0.004482	0	8	44				
IGSF22	283284	broad.mit.edu	37	11	18739579	18739579	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:18739579G>T	ENST00000513874.1	-	9	1011	c.872C>A	c.(871-873)aCc>aAc	p.T291N	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	291	Ig-like 2.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CATGTACTTGGTGCCCATCTG	0.532																																							uc009yht.2		NA																	0				ovary(4)|large_intestine(2)|kidney(1)	7						c.(871-873)ACC>AAC		immunoglobulin superfamily, member 22							164.0	161.0	162.0					11																	18739579		2123	4240	6363	SO:0001583	missense	283284							g.chr11:18739579G>T	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.872C>A	11.37:g.18739579G>T	ENSP00000421191:p.Thr291Asn					IGSF22_uc001mpa.2_RNA	p.T291N	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN			9	1062	-			291			Ig-like 2.		A6NNA0|D6RGV7	Missense_Mutation	SNP	ENST00000513874.1	37	c.872C>A	CCDS41625.2	.	.	.	.	.	.	.	.	.	.	G	16.52	3.147335	0.57151	.	.	ENSG00000179057	ENST00000513874	T	0.65549	-0.16	4.7	1.69	0.24217	.	0.000000	0.39759	N	0.001271	T	0.58949	0.2158	L	0.38531	1.155	0.25549	N	0.987102	D	0.57571	0.98	P	0.57846	0.828	T	0.51834	-0.8655	10	0.18710	T	0.47	.	8.0154	0.30379	0.0856:0.301:0.6134:0.0	.	291	D6RGV7	.	N	291	ENSP00000421191:T291N	ENSP00000322422:T291N	T	-	2	0	IGSF22	18696155	0.997000	0.39634	0.998000	0.56505	0.999000	0.98932	1.306000	0.33505	0.064000	0.16427	0.655000	0.94253	ACC		0.532	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		17	65	1	0	2.35188e-11	0.006122	3.34985e-11	17	65				
PTPN5	84867	broad.mit.edu	37	11	18754793	18754793	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:18754793C>A	ENST00000358540.2	-	11	1637	c.1207G>T	c.(1207-1209)Gag>Tag	p.E403*	PTPN5_ENST00000396167.2_Nonsense_Mutation_p.E371*|PTPN5_ENST00000396171.4_Nonsense_Mutation_p.E403*|PTPN5_ENST00000396168.1_Nonsense_Mutation_p.E379*|PTPN5_ENST00000396166.3_5'Flank|PTPN5_ENST00000396170.1_Nonsense_Mutation_p.E371*|PTPN5_ENST00000477854.1_Nonsense_Mutation_p.E207*|RP11-1081L13.4_ENST00000527285.1_RNA	NM_006906.1	NP_008837.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	403	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						TCGTTCATCTCCTCGATGTTG	0.522																																							uc001mpd.2		NA																	0				ovary(2)	2						c.(1207-1209)GAG>TAG		protein-tyrosine-phosphatase non-receptor 5							187.0	157.0	167.0					11																	18754793		2199	4293	6492	SO:0001587	stop_gained	84867					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr11:18754793C>A	BC064807	CCDS7845.1, CCDS41626.1, CCDS60746.1	11p15.1	2011-06-09			ENSG00000110786	ENSG00000110786		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9657	protein-coding gene	gene with protein product		176879				1714595	Standard	NM_001278236		Approved	STEP, PTPSTEP	uc001mpc.4	P54829	OTTHUMG00000134304	ENST00000358540.2:c.1207G>T	11.37:g.18754793C>A	ENSP00000351342:p.Glu403*					PTPN5_uc001mpb.2_Nonsense_Mutation_p.E371*|PTPN5_uc001mpc.2_Nonsense_Mutation_p.E403*|PTPN5_uc001mpe.2_Nonsense_Mutation_p.E371*|PTPN5_uc010rdj.1_Nonsense_Mutation_p.E347*|PTPN5_uc001mpf.2_Nonsense_Mutation_p.E379*|PTPN5_uc010rdk.1_Nonsense_Mutation_p.E348*	p.E403*	NM_006906	NP_008837	P54829	PTN5_HUMAN			11	1638	-			403			Tyrosine-protein phosphatase.		B3KXG7|B7Z386|B7ZAF5|D3DQY7|Q6P1Z2|Q8N2A1|Q8NDP8	Nonsense_Mutation	SNP	ENST00000358540.2	37	c.1207G>T	CCDS7845.1	.	.	.	.	.	.	.	.	.	.	C	43	10.098488	0.99336	.	.	ENSG00000110786	ENST00000477854;ENST00000358540;ENST00000396170;ENST00000396171;ENST00000396167;ENST00000396168	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.557	0.95354	0.0:1.0:0.0:0.0	.	.	.	.	X	207;403;371;403;371;379	.	ENSP00000351342:E403X	E	-	1	0	PTPN5	18711369	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.701000	0.84566	2.630000	0.89119	0.655000	0.94253	GAG		0.522	PTPN5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259196.2	NM_001039970		32	69	1	0	1.90571e-15	0.004289	2.9798e-15	32	69				
NAV2	89797	broad.mit.edu	37	11	20113751	20113751	+	Splice_Site	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:20113751G>T	ENST00000396087.3	+	31	5928		c.e31-1		NAV2_ENST00000349880.4_Splice_Site|NAV2_ENST00000311043.8_Splice_Site|NAV2_ENST00000360655.4_Splice_Site|NAV2_ENST00000540292.1_Splice_Site|NAV2_ENST00000396085.1_Splice_Site|NAV2_ENST00000533917.1_Splice_Site|NAV2_ENST00000527559.2_Splice_Site	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2						glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						ACTCTTTGCAGAGTGAAATAG	0.488																																							uc001mpr.3		NA																	0				skin(4)|ovary(1)|pancreas(1)	6						c.e28-1		neuron navigator 2 isoform 1							62.0	66.0	65.0					11																	20113751		2203	4300	6503	SO:0001630	splice_region_variant	89797					nucleus	ATP binding|helicase activity	g.chr11:20113751G>T	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.5830-1G>T	11.37:g.20113751G>T						NAV2_uc001mpp.2_Splice_Site_p.S1821_splice|NAV2_uc009yhx.2_Splice_Site_p.S949_splice|NAV2_uc009yhz.2_Splice_Site_p.S530_splice|NAV2_uc001mpu.2_Splice_Site_p.S323_splice	p.S1888_splice	NM_182964	NP_892009	Q8IVL1	NAV2_HUMAN			28	6023	+								A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Splice_Site	SNP	ENST00000396087.3	37	c.5662_splice	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.310447	0.81358	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000311043	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NAV2	20070327	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	.		0.488	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117	Intron	18	43	1	0	4.96729e-08	0.008871	6.42292e-08	18	43				
MUC15	143662	broad.mit.edu	37	11	26582746	26582746	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:26582746G>A	ENST00000455601.2	-	4	989	c.871C>T	c.(871-873)Cct>Tct	p.P291S	MUC15_ENST00000527569.1_Missense_Mutation_p.P268S|MUC15_ENST00000529533.1_Missense_Mutation_p.P318S|ANO3_ENST00000531568.1_Intron|ANO3_ENST00000529242.1_Intron|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000281268.8_Missense_Mutation_p.P268S|MUC15_ENST00000436318.2_Missense_Mutation_p.P318S|ANO3_ENST00000537978.1_Intron	NM_145650.3	NP_663625.2	Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	291					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						ACATCATAAGGTTCCGGTGCA	0.378																																							uc001mqx.2		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(871-873)CCT>TCT		mucin 15 isoform b							132.0	118.0	123.0					11																	26582746		2203	4300	6503	SO:0001583	missense	143662					extracellular region|integral to membrane|plasma membrane		g.chr11:26582746G>A	AJ417818	CCDS7859.1, CCDS44556.1, CCDS44557.1	11p14.3	2007-01-17	2006-03-14					"""Mucins"""	14956	protein-coding gene	gene with protein product		608566				12047385	Standard	NM_145650		Approved		uc001mqw.3	Q8N387		ENST00000455601.2:c.871C>T	11.37:g.26582746G>A	ENSP00000397339:p.Pro291Ser					ANO3_uc010rdr.1_Intron|ANO3_uc001mqt.3_Intron|ANO3_uc010rds.1_Intron|ANO3_uc010rdt.1_Intron|MUC15_uc001mqw.2_Missense_Mutation_p.P318S|MUC15_uc001mqy.2_Missense_Mutation_p.P268S	p.P291S	NM_145650	NP_663625	Q8N387	MUC15_HUMAN			4	1137	-			291			Cytoplasmic (Potential).		B3KY00|E9PII6|F8W945|Q6UWS3|Q8IXI8|Q8WW41	Missense_Mutation	SNP	ENST00000455601.2	37	c.871C>T	CCDS7859.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.058912	0.76074	.	.	ENSG00000169550	ENST00000455601;ENST00000436318;ENST00000281268;ENST00000529533;ENST00000527569	T;T;T;T;T	0.55930	0.56;0.49;0.57;0.49;0.57	5.43	4.47	0.54385	.	0.000000	0.49305	D	0.000142	T	0.61160	0.2325	L	0.29908	0.895	0.33896	D	0.637965	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	T	0.70737	-0.4790	10	0.66056	D	0.02	-17.8666	15.0721	0.72046	0.0:0.0:0.8581:0.1419	.	268;291;318	F8W945;Q8N387;E9PII6	.;MUC15_HUMAN;.	S	291;318;268;318;268	ENSP00000397339:P291S;ENSP00000416753:P318S;ENSP00000281268:P268S;ENSP00000431983:P318S;ENSP00000431945:P268S	ENSP00000281268:P268S	P	-	1	0	MUC15	26539322	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.315000	0.43752	2.708000	0.92522	0.591000	0.81541	CCT		0.378	MUC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387866.1	NM_145650		3	28	0	0	0	0.009096	0	3	28				
KCNA4	3739	broad.mit.edu	37	11	30033752	30033752	+	Silent	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:30033752A>T	ENST00000328224.6	-	2	1707	c.474T>A	c.(472-474)ccT>ccA	p.P158P	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	158					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	CCTCATCCTGAGGCAGCAGAT	0.512																																							uc001msk.2		NA																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(472-474)CCT>CCA		potassium voltage-gated channel, shaker-related							64.0	63.0	63.0					11																	30033752		2182	4271	6453	SO:0001819	synonymous_variant	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30033752A>T	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.474T>A	11.37:g.30033752A>T							p.P158P	NM_002233	NP_002224	P22459	KCNA4_HUMAN			2	1626	-			158						Silent	SNP	ENST00000328224.6	37	c.474T>A	CCDS41629.1																																																																																				0.512	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		7	54	0	0	0	0.00308	0	7	54				
DCDC1	341019	broad.mit.edu	37	11	31086068	31086068	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:31086068C>T	ENST00000597505.1	-	18	2538	c.2539G>A	c.(2539-2541)Gta>Ata	p.V847I	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					ACCAGTGCTACTGTCAGCTCC	0.488																																							uc009yjk.1		NA																	0					NA						c.(883-885)GTA>ATA		RecName: Full=Doublecortin domain-containing protein 5;							174.0	167.0	169.0					11																	31086068		1896	4120	6016	SO:0001583	missense	0							g.chr11:31086068C>T	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.2539G>A	11.37:g.31086068C>T	ENSP00000472625:p.Val847Ile					uc009yjl.1_Missense_Mutation_p.V223I|DCDC1_uc001msu.1_Missense_Mutation_p.V466I	p.V295I							8	952	-								A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	ENST00000597505.1	37	c.883G>A																																																																																					0.488	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	NM_181807		36	69	0	0	0	0.00874	0	36	69				
ELP4	26610	broad.mit.edu	37	11	31671690	31671690	+	Missense_Mutation	SNP	G	G	T	rs376061277		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:31671690G>T	ENST00000350638.5	+	9	1099	c.1064G>T	c.(1063-1065)cGg>cTg	p.R355L	Z83001.1_ENST00000429821.1_RNA|ELP4_ENST00000395934.2_Missense_Mutation_p.R355L|ELP4_ENST00000379163.5_Missense_Mutation_p.R356L	NM_019040.3	NP_061913.3	Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	355					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					CAGATTCCTCGGCTTAATAAC	0.284																																							uc001mtb.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|prostate(1)	3						c.(1063-1065)CGG>CTG		elongation protein 4 homolog							54.0	52.0	52.0					11																	31671690		1798	4061	5859	SO:0001583	missense	26610				histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding	g.chr11:31671690G>T	AJ276005	CCDS7875.2, CCDS73271.1, CCDS73272.1	11p13	2012-08-14	2012-08-08	2002-05-24	ENSG00000109911	ENSG00000109911		"""Elongator acetyltransferase complex subunits"""	1171	protein-coding gene	gene with protein product		606985	"""chromosome 11 open reading frame 19"", ""elongation protein 4 homolog (S. cerevisiae)"""	C11orf19		11889558, 11435442	Standard	XM_005252865		Approved	PAXNEB	uc001mtb.3	Q96EB1	OTTHUMG00000142919	ENST00000350638.5:c.1064G>T	11.37:g.31671690G>T	ENSP00000298937:p.Arg355Leu					ELP4_uc001mta.1_RNA|ELP4_uc001mtc.2_Missense_Mutation_p.R355L|ELP4_uc010rdz.1_Missense_Mutation_p.R356L	p.R355L	NM_019040	NP_061913	Q96EB1	ELP4_HUMAN			9	1099	+	Lung SC(675;0.225)		355					B4E3W0|E7EPZ6|Q9H4E8|Q9NX11	Missense_Mutation	SNP	ENST00000350638.5	37	c.1064G>T	CCDS7875.2	.	.	.	.	.	.	.	.	.	.	G	14.37	2.513977	0.44763	.	.	ENSG00000109911	ENST00000350638;ENST00000379163;ENST00000395934	T;T;T	0.40756	1.02;1.02;1.02	5.97	5.07	0.68467	.	0.112704	0.64402	D	0.000008	T	0.61813	0.2377	M	0.83953	2.67	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.76071	0.987;0.979;0.968	T	0.64478	-0.6398	10	0.08837	T	0.75	-7.6064	12.4312	0.55575	0.135:0.0:0.865:0.0	.	356;355;355	B4E3W0;G5E9D4;Q96EB1	.;.;ELP4_HUMAN	L	355;356;355	ENSP00000298937:R355L;ENSP00000368461:R356L;ENSP00000379267:R355L	ENSP00000298937:R355L	R	+	2	0	ELP4	31628266	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.485000	0.35519	1.538000	0.49270	0.585000	0.79938	CGG		0.284	ELP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286640.1	NM_019040		4	33	1	0	4.096e-09	0.001168	5.49211e-09	4	33				
KIAA1549L	25758	broad.mit.edu	37	11	33667548	33667548	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:33667548G>T	ENST00000321505.4	+	16	5015	c.4835G>T	c.(4834-4836)cGc>cTc	p.R1612L	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.R1618L			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1612						integral component of membrane (GO:0016021)											CCGACCTACCGCCCAGAAATG	0.627																																							uc001mup.3		NA																	0				ovary(2)	2						c.(4852-4854)CGC>CTC		hypothetical protein LOC25758							19.0	22.0	22.0					11																	33667548		1959	4131	6090	SO:0001583	missense	25758					integral to membrane		g.chr11:33667548G>T	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.4835G>T	11.37:g.33667548G>T	ENSP00000315295:p.Arg1612Leu						p.R1618L	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN			16	4977	+			1612					B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.4853G>T	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	G	26.5	4.746339	0.89663	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000536568	.	.	.	5.42	5.42	0.78866	.	0.082143	0.46442	D	0.000290	T	0.64886	0.2639	N	0.24115	0.695	0.49798	D	0.999822	D	0.76494	0.999	D	0.67548	0.952	T	0.65747	-0.6093	9	0.46703	T	0.11	-13.7977	19.5962	0.95538	0.0:0.0:1.0:0.0	.	1618	E9PAT2	.	L	1612;1618;1451	.	ENSP00000315295:R1612L	R	+	2	0	C11orf41	33624124	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.146000	0.94640	2.702000	0.92279	0.462000	0.41574	CGC		0.627	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		3	10	1	0	2.56e-06	0.009096	3.10246e-06	3	10				
FBXO3	26273	broad.mit.edu	37	11	33777464	33777464	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:33777464G>A	ENST00000265651.3	-	5	549	c.531C>T	c.(529-531)gtC>gtT	p.V177V	FBXO3_ENST00000534136.1_Silent_p.V177V|FBXO3_ENST00000530401.1_Silent_p.V172V|FBXO3_ENST00000531080.1_5'Flank|FBXO3_ENST00000448981.2_Silent_p.V177V|FBXO3_ENST00000532057.1_5'Flank|FBXO3_ENST00000533103.1_5'Flank|FBXO3_ENST00000526785.1_Silent_p.V64V	NM_012175.3	NP_036307.2	Q9UK99	FBX3_HUMAN	F-box protein 3	177					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		CAGCTGTATCGACGTCTAACA	0.453																																							uc001muz.2		NA																	0		p.V177I(1)		pancreas(1)	1						c.(529-531)GTC>GTT		F-box only protein 3 isoform 1							85.0	78.0	80.0					11																	33777464		2202	4298	6500	SO:0001819	synonymous_variant	26273				proteolysis	nucleus	ubiquitin-protein ligase activity	g.chr11:33777464G>A	AK001943	CCDS7887.1, CCDS44566.1	11p13	2006-07-07	2004-06-15		ENSG00000110429	ENSG00000110429		"""F-boxes /  ""other"""""	13582	protein-coding gene	gene with protein product		609089	"""F-box only protein 3"""			10531037	Standard	NM_033406		Approved	FBX3, FBA	uc001muz.3	Q9UK99	OTTHUMG00000166244	ENST00000265651.3:c.531C>T	11.37:g.33777464G>A						FBXO3_uc010rej.1_5'Flank|FBXO3_uc001muy.2_Silent_p.V64V|FBXO3_uc009ykb.2_RNA|FBXO3_uc001mva.1_Silent_p.V177V|FBXO3_uc001mvb.1_Silent_p.V172V|FBXO3_uc010rek.1_Intron	p.V177V	NM_012175	NP_036307	Q9UK99	FBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)	5	559	-		Lung NSC(402;0.0804)	177					B3KY16|D3DR05|Q86X90|Q9H0V2|Q9NUX2	Silent	SNP	ENST00000265651.3	37	c.531C>T	CCDS7887.1																																																																																				0.453	FBXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388665.1	NM_012175		3	47	0	0	0	0.000602	0	3	47				
NAT10	55226	broad.mit.edu	37	11	34129826	34129826	+	Silent	SNP	A	A	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:34129826A>G	ENST00000257829.3	+	2	260	c.54A>G	c.(52-54)gtA>gtG	p.V18V	NAT10_ENST00000531159.2_Intron|NAT10_ENST00000527971.1_Silent_p.V18V	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	18						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				AGAATGGAGTAGCTGAGCGGC	0.408																																							uc001mvk.2		NA																	0				ovary(1)|skin(1)	2						c.(52-54)GTA>GTG		N-acetyltransferase 10 isoform a							146.0	147.0	147.0					11																	34129826		2202	4298	6500	SO:0001819	synonymous_variant	55226					nucleolus	ATP binding|N-acetyltransferase activity|protein binding	g.chr11:34129826A>G	AF489535	CCDS7889.1, CCDS44568.1	11p13	2011-11-16	2008-09-24		ENSG00000135372	ENSG00000135372	2.3.1.-		29830	protein-coding gene	gene with protein product		609221	"""N-acetyltransferase 10"""			14592445, 21177859	Standard	NM_024662		Approved	hALP, FLJ10774, FLJ12179, NET43, KIAA1709	uc001mvk.3	Q9H0A0	OTTHUMG00000166249	ENST00000257829.3:c.54A>G	11.37:g.34129826A>G						NAT10_uc010ren.1_Intron	p.V18V	NM_024662	NP_078938	Q9H0A0	NAT10_HUMAN			2	298	+		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)	18					B4DFD5|E7ESU4|E9PMN9|Q86WK5|Q9C0F4|Q9HA61|Q9NVF2	Silent	SNP	ENST00000257829.3	37	c.54A>G	CCDS7889.1																																																																																				0.408	NAT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388693.1	NM_024662		35	87	0	0	0	0.004878	0	35	87				
PAMR1	25891	broad.mit.edu	37	11	35496271	35496271	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:35496271G>T	ENST00000378880.2	-	4	846	c.401C>A	c.(400-402)gCc>gAc	p.A134D	PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000278360.3_Missense_Mutation_p.A134D|PAMR1_ENST00000532848.1_Missense_Mutation_p.A94D|PAMR1_ENST00000378878.3_Intron	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	134	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						ACCCTTTGGGGCTCGCAGAAC	0.433																																							uc001mwg.2		NA																	0				ovary(2)	2						c.(400-402)GCC>GAC		regeneration associated muscle protease isoform							74.0	73.0	74.0					11																	35496271		2202	4298	6500	SO:0001583	missense	25891				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr11:35496271G>T		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"""regeneration-associated muscle protease"""					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.401C>A	11.37:g.35496271G>T	ENSP00000368158:p.Ala134Asp					PAMR1_uc001mwf.2_Missense_Mutation_p.A134D|PAMR1_uc010rew.1_Intron|PAMR1_uc010rex.1_Missense_Mutation_p.A94D	p.A134D	NM_001001991	NP_001001991	Q6UXH9	PAMR1_HUMAN			4	444	-			134			CUB.		A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Missense_Mutation	SNP	ENST00000378880.2	37	c.401C>A	CCDS31460.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.239355	0.58995	.	.	ENSG00000149090	ENST00000278360;ENST00000378880;ENST00000532848;ENST00000527605	T;T;T;T	0.17213	2.29;2.29;2.29;2.29	5.2	-2.26	0.06867	CUB (5);	0.588070	0.17848	N	0.159946	T	0.21267	0.0512	L	0.37466	1.105	0.22446	N	0.999097	P;P	0.49783	0.928;0.731	P;P	0.54965	0.765;0.447	T	0.15723	-1.0427	10	0.87932	D	0	.	11.6218	0.51121	0.4474:0.0:0.5526:0.0	.	134;134	Q6UXH9;Q6UXH9-2	PAMR1_HUMAN;.	D	134;134;94;94	ENSP00000278360:A134D;ENSP00000368158:A134D;ENSP00000433868:A94D;ENSP00000432591:A94D	ENSP00000278360:A134D	A	-	2	0	PAMR1	35452847	0.017000	0.18338	0.151000	0.22473	0.984000	0.73092	0.525000	0.22956	-0.303000	0.08856	-0.379000	0.06801	GCC		0.433	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		13	39	1	0	1.99824e-07	0.00499	2.51812e-07	13	39				
RAG1	5896	broad.mit.edu	37	11	36594961	36594961	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:36594961G>T	ENST00000299440.5	+	2	219	c.107G>T	c.(106-108)aGa>aTa	p.R36I		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	36	Interaction with importin alpha-1.				adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TTCCGGGTGAGATCCTTTGAA	0.468									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	uc001mwu.3		NA																	0				ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5						c.(106-108)AGA>ATA		recombination activating gene 1							50.0	55.0	54.0					11																	36594961		2202	4298	6500	SO:0001583	missense	5896	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36594961G>T	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.107G>T	11.37:g.36594961G>T	ENSP00000299440:p.Arg36Ile					RAG1_uc001mwt.2_RNA	p.R36I	NM_000448	NP_000439	P15918	RAG1_HUMAN			2	231	+	all_lung(20;0.226)	all_hematologic(20;0.107)	36			Interaction with importin alpha-1.		E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.107G>T	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.723279	0.68959	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	T;T	0.74526	-0.85;-0.85	6.14	6.14	0.99180	.	0.156594	0.56097	D	0.000025	D	0.83202	0.5203	M	0.81942	2.565	0.80722	D	1	D	0.57899	0.981	P	0.55161	0.77	D	0.84951	0.0871	10	0.87932	D	0	.	13.9788	0.64291	0.0686:0.0:0.9314:0.0	.	36	P15918	RAG1_HUMAN	I	36	ENSP00000434610:R36I;ENSP00000299440:R36I	ENSP00000299440:R36I	R	+	2	0	RAG1	36551537	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	2.808000	0.47963	2.937000	0.99478	0.650000	0.86243	AGA		0.468	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		11	33	1	0	1.58986e-06	0.008291	1.94739e-06	11	33				
TTC17	55761	broad.mit.edu	37	11	43423014	43423014	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:43423014G>T	ENST00000039989.4	+	10	1252	c.1238G>T	c.(1237-1239)cGa>cTa	p.R413L	TTC17_ENST00000299240.6_Missense_Mutation_p.R413L|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	413					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CAGATATGCCGACTGGTCAAC	0.398																																							uc001mxi.2		NA																	0				ovary(5)	5						c.(1237-1239)CGA>CTA		tetratricopeptide repeat domain 17							127.0	111.0	116.0					11																	43423014		2203	4300	6503	SO:0001583	missense	55761						binding	g.chr11:43423014G>T	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.1238G>T	11.37:g.43423014G>T	ENSP00000039989:p.Arg413Leu					TTC17_uc001mxh.2_Missense_Mutation_p.R413L|TTC17_uc010rfj.1_Missense_Mutation_p.R356L|TTC17_uc001mxj.2_Missense_Mutation_p.R183L	p.R413L	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN			10	1252	+			413					G3XAB3|Q8NEC0	Missense_Mutation	SNP	ENST00000039989.4	37	c.1238G>T	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.147634	0.57151	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.32515	1.45;1.47	6.08	6.08	0.98989	.	0.214361	0.49305	D	0.000145	T	0.27313	0.0670	N	0.22421	0.69	0.34559	D	0.712209	B;B;B	0.30727	0.193;0.269;0.292	B;B;B	0.34138	0.085;0.028;0.176	T	0.16748	-1.0392	10	0.22109	T	0.4	-13.847	20.6721	0.99693	0.0:0.0:1.0:0.0	.	413;413;413	Q8NEC0;Q96AE7;G3XAB3	.;TTC17_HUMAN;.	L	413	ENSP00000299240:R413L;ENSP00000039989:R413L	ENSP00000039989:R413L	R	+	2	0	TTC17	43379590	0.998000	0.40836	0.997000	0.53966	0.994000	0.84299	2.606000	0.46291	2.894000	0.99253	0.591000	0.81541	CGA		0.398	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		5	22	1	0	6.5536e-12	0.00308	9.53542e-12	5	22				
NR1H3	10062	broad.mit.edu	37	11	47282960	47282960	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:47282960A>T	ENST00000467728.1	+	4	1906	c.668A>T	c.(667-669)cAg>cTg	p.Q223L	NR1H3_ENST00000441012.2_Missense_Mutation_p.Q223L|NR1H3_ENST00000527949.1_Missense_Mutation_p.Q132L|NR1H3_ENST00000481889.2_Missense_Mutation_p.Q178L|NR1H3_ENST00000405576.1_Missense_Mutation_p.Q178L|NR1H3_ENST00000407404.1_Missense_Mutation_p.Q223L|NR1H3_ENST00000405853.3_Missense_Mutation_p.Q223L|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000395397.3_Missense_Mutation_p.Q178L			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	223	Ligand-binding. {ECO:0000255}.				apoptotic cell clearance (GO:0043277)|cellular lipid metabolic process (GO:0044255)|cellular response to lipopolysaccharide (GO:0071222)|cholesterol homeostasis (GO:0042632)|gene expression (GO:0010467)|lipid homeostasis (GO:0055088)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage activation (GO:0043031)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of pinocytosis (GO:0048550)|negative regulation of proteolysis (GO:0045861)|negative regulation of secretion of lysosomal enzymes (GO:0090341)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|response to progesterone (GO:0032570)|sterol homeostasis (GO:0055092)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid hormone receptor activity (GO:0003707)|sterol response element binding (GO:0032810)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						GCCCAGCAACAGTGTAACCGG	0.617																																							uc009ylm.2		NA																	0				ovary(2)|lung(1)	3						c.(667-669)CAG>CTG		nuclear receptor subfamily 1, group H, member 3							59.0	56.0	57.0					11																	47282960		2201	4298	6499	SO:0001583	missense	10062				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding	g.chr11:47282960A>T	U22662	CCDS7929.1, CCDS44584.1, CCDS44585.1, CCDS73285.1	11p11.2	2013-01-16			ENSG00000025434	ENSG00000025434		"""Nuclear hormone receptors"""	7966	protein-coding gene	gene with protein product	"""liver X receptor-alpha"""	602423				8621574, 7744246	Standard	NM_005693		Approved	LXR-a, RLD-1	uc009ylm.3	Q13133	OTTHUMG00000150628	ENST00000467728.1:c.668A>T	11.37:g.47282960A>T	ENSP00000420656:p.Gln223Leu					NR1H3_uc009yll.1_Missense_Mutation_p.Q229L|NR1H3_uc010rhk.1_Missense_Mutation_p.Q229L|NR1H3_uc001nek.2_Missense_Mutation_p.Q178L|NR1H3_uc001nej.2_Missense_Mutation_p.Q223L|NR1H3_uc001nel.2_Missense_Mutation_p.Q178L|NR1H3_uc001nen.3_Missense_Mutation_p.Q223L|NR1H3_uc001nem.2_Missense_Mutation_p.Q223L|NR1H3_uc001nep.2_Missense_Mutation_p.Q132L	p.Q223L	NM_005693	NP_005684	Q13133	NR1H3_HUMAN			5	889	+			223			Ligand-binding (Potential).		A8K3J9|D3DQR1|Q8IW13|Q96H87	Missense_Mutation	SNP	ENST00000467728.1	37	c.668A>T	CCDS7929.1	.	.	.	.	.	.	.	.	.	.	A	16.11	3.028999	0.54790	.	.	ENSG00000025434	ENST00000395397;ENST00000405576;ENST00000481889;ENST00000531660;ENST00000407404;ENST00000441012;ENST00000467728;ENST00000405853;ENST00000527949	D;D;D;T;D;D;D;D;D	0.95103	-3.61;-3.2;-3.03;0.48;-3.22;-3.61;-3.61;-3.22;-3.4	5.35	1.34	0.21922	Nuclear hormone receptor, ligand-binding (2);	0.429819	0.27941	N	0.017225	D	0.89829	0.6828	L	0.45137	1.4	0.42735	D	0.993722	B;B;B;B;B	0.27765	0.0;0.0;0.0;0.188;0.001	B;B;B;B;B	0.22880	0.0;0.003;0.0;0.042;0.004	D	0.85252	0.1045	10	0.49607	T	0.09	.	10.5738	0.45214	0.6329:0.0:0.0:0.3671	.	229;178;223;178;223	B4DXU5;B5MBY7;Q13133;E9PLL4;Q13133-2	.;.;NR1H3_HUMAN;.;.	L	178;178;178;89;223;223;223;223;132	ENSP00000378793:Q178L;ENSP00000385073:Q178L;ENSP00000433271:Q178L;ENSP00000434650:Q89L;ENSP00000385801:Q223L;ENSP00000387946:Q223L;ENSP00000420656:Q223L;ENSP00000384745:Q223L;ENSP00000432073:Q132L	ENSP00000378793:Q178L	Q	+	2	0	NR1H3	47239536	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.769000	0.62300	0.476000	0.27440	0.533000	0.62120	CAG		0.617	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319214.3			12	42	0	0	0	0.003163	0	12	42				
MADD	8567	broad.mit.edu	37	11	47312232	47312232	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:47312232G>T	ENST00000311027.5	+	20	3391	c.3226G>T	c.(3226-3228)Ggg>Tgg	p.G1076W	MADD_ENST00000395336.3_Missense_Mutation_p.G1076W|MADD_ENST00000406482.1_Missense_Mutation_p.G1013W|MADD_ENST00000405573.2_5'Flank|MADD_ENST00000395344.3_Missense_Mutation_p.G1013W|MADD_ENST00000349238.3_Missense_Mutation_p.G1076W|MADD_ENST00000342922.4_Missense_Mutation_p.G1056W|MADD_ENST00000407859.3_Missense_Mutation_p.G1033W|MADD_ENST00000402192.2_Missense_Mutation_p.G1056W|MADD_ENST00000402799.1_Missense_Mutation_p.G1013W	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		TGGCCTAGCTGGGCGGGGGGA	0.537																																							uc001ner.1		NA																	0				ovary(5)|skin(4)|central_nervous_system(2)	11						c.(3226-3228)GGG>TGG		MAP-kinase activating death domain-containing							56.0	56.0	56.0					11																	47312232		2201	4298	6499	SO:0001583	missense	8567				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr11:47312232G>T	AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.3226G>T	11.37:g.47312232G>T	ENSP00000310933:p.Gly1076Trp					MADD_uc001neq.2_Missense_Mutation_p.G1056W|MADD_uc001nev.1_Missense_Mutation_p.G1013W|MADD_uc001nes.1_Missense_Mutation_p.G1033W|MADD_uc001net.1_Missense_Mutation_p.G1076W|MADD_uc009yln.1_Missense_Mutation_p.G1013W|MADD_uc001neu.1_Missense_Mutation_p.G1013W|MADD_uc001nex.2_Missense_Mutation_p.G1076W|MADD_uc001nez.2_Missense_Mutation_p.G1013W|MADD_uc001new.2_Missense_Mutation_p.G1056W|MADD_uc009ylo.2_5'UTR	p.G1076W	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN		Lung(87;0.182)	20	3417	+			1076						Missense_Mutation	SNP	ENST00000311027.5	37	c.3226G>T	CCDS7930.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.727777	0.69074	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192	T;T;T;T;T;T;T;T;T	0.06068	3.49;3.35;3.35;3.49;3.47;3.35;3.35;3.47;3.49	5.56	4.65	0.58169	.	0.321376	0.33813	N	0.004540	T	0.09598	0.0236	N	0.22421	0.69	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.65815	0.983;0.97;0.992;0.99;0.99;0.99;0.986;0.995;0.987;0.992	P;P;P;P;P;P;P;P;P;P	0.61003	0.502;0.711;0.882;0.849;0.789;0.694;0.849;0.849;0.765;0.849	T	0.14337	-1.0476	10	0.72032	D	0.01	-9.7672	5.4225	0.16407	0.0745:0.2533:0.5442:0.128	.	1013;1013;1076;1013;1013;1013;1076;1033;1076;1056	B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;MADD_HUMAN;.	W	1056;1013;1013;1013;1076;1076;1033;1013;1076;1056	ENSP00000343902:G1056W;ENSP00000385585:G1013W;ENSP00000384435:G1013W;ENSP00000304505:G1076W;ENSP00000310933:G1076W;ENSP00000384204:G1033W;ENSP00000378753:G1013W;ENSP00000378745:G1076W;ENSP00000384287:G1056W	ENSP00000310933:G1076W	G	+	1	0	MADD	47268808	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	2.156000	0.42310	1.477000	0.48234	0.563000	0.77884	GGG		0.537	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			7	35	1	0	0.00307968	0.00308	0.00328514	7	35				
OR4A15	81328	broad.mit.edu	37	11	55135425	55135425	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:55135425G>A	ENST00000314706.3	+	1	66	c.66G>A	c.(64-66)ctG>ctA	p.L22L		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TCCGACACCTGAGTCCAACAC	0.408																																							uc010rif.1		NA																	0				ovary(1)|skin(1)	2						c.(64-66)CTG>CTA		olfactory receptor, family 4, subfamily A,							59.0	55.0	56.0					11																	55135425		2201	4296	6497	SO:0001819	synonymous_variant	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55135425G>A	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.66G>A	11.37:g.55135425G>A							p.L22L	NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN			1	66	+			22			Extracellular (Potential).		Q6IFL4|Q96R65	Silent	SNP	ENST00000314706.3	37	c.66G>A	CCDS31500.1																																																																																				0.408	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		6	32	0	0	0	0.001984	0	6	32				
OR4A15	81328	broad.mit.edu	37	11	55136164	55136164	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:55136164G>T	ENST00000314706.3	+	1	805	c.805G>T	c.(805-807)Gca>Tca	p.A269S		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	269						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A269S(2)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CTACACCTGTGCATCCCACGT	0.423																																							uc010rif.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(805-807)GCA>TCA		olfactory receptor, family 4, subfamily A,							222.0	201.0	208.0					11																	55136164		2201	4296	6497	SO:0001583	missense	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55136164G>T	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.805G>T	11.37:g.55136164G>T	ENSP00000325065:p.Ala269Ser						p.A269S	NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN			1	805	+			269			Helical; Name=6; (Potential).		Q6IFL4|Q96R65	Missense_Mutation	SNP	ENST00000314706.3	37	c.805G>T	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	-	8.837	0.941383	0.18281	.	.	ENSG00000181958	ENST00000314706	T	0.38887	1.11	3.65	0.319	0.15873	GPCR, rhodopsin-like superfamily (1);	1.072530	0.07285	N	0.871393	T	0.22126	0.0533	N	0.16201	0.385	0.09310	N	1	B	0.13145	0.007	B	0.23716	0.048	T	0.29792	-1.0000	10	0.07990	T	0.79	.	5.4841	0.16739	0.5889:0.0:0.4111:0.0	.	269	Q8NGL6	O4A15_HUMAN	S	269	ENSP00000325065:A269S	ENSP00000325065:A269S	A	+	1	0	OR4A15	54892740	0.000000	0.05858	0.012000	0.15200	0.899000	0.52679	-1.156000	0.03160	0.225000	0.20959	0.492000	0.49549	GCA		0.423	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		29	61	1	0	2.12542e-12	0.00632	3.1323e-12	29	61				
OR4C15	81309	broad.mit.edu	37	11	55321886	55321886	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:55321886G>T	ENST00000314644.2	+	1	104	c.104G>T	c.(103-105)tGt>tTt	p.C35F		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	0						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						ATTTTCCTTTGTCCTAATTGC	0.378										HNSCC(20;0.049)																													uc010rig.1		NA																	0				ovary(1)|skin(1)	2						c.(103-105)TGT>TTT		olfactory receptor, family 4, subfamily C,							163.0	162.0	162.0					11																	55321886		2201	4296	6497	SO:0001583	missense	81309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55321886G>T	BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.104G>T	11.37:g.55321886G>T	ENSP00000324958:p.Cys35Phe	HNSCC(20;0.049)					p.C35F	NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN			1	104	+			Error:Variant_position_missing_in_Q8NGM1_after_alignment					Q6IFE2	Missense_Mutation	SNP	ENST00000314644.2	37	c.104G>T	CCDS31501.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.478041	0.26511	.	.	ENSG00000181939	ENST00000314644	T	0.00001	9.9	4.97	-7.78	0.01223	.	.	.	.	.	T	0.00039	0.0001	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.19745	-1.0296	6	0.72032	D	0.01	.	0.6672	0.00853	0.3724:0.1636:0.1186:0.3454	.	.	.	.	F	35	ENSP00000324958:C35F	ENSP00000324958:C35F	C	+	2	0	OR4C15	55078462	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-2.463000	0.00996	-1.156000	0.02818	0.385000	0.25706	TGT		0.378	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920		8	69	1	0	5.4927e-09	0.004482	7.31868e-09	8	69				
OR4C11	219429	broad.mit.edu	37	11	55371142	55371142	+	Silent	SNP	G	G	A	rs146621611	byFrequency	TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:55371142G>A	ENST00000302231.4	-	1	732	c.708C>T	c.(706-708)tcC>tcT	p.S236S		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						ACGTGCAAGCGGAGAGAGCCT	0.413													-|||	19	0.00379393	0.0144	0.0	5008	,	,		14931	0.0		0.0	False		,,,				2504	0.0						uc010rii.1		NA																	0				ovary(1)	1						c.(706-708)TCC>TCT		olfactory receptor, family 4, subfamily C,		-		60,4296		4,52,2122	74.0	64.0	67.0		708	-7.2	0.0	11	dbSNP_134	67	0,8006		0,0,4003	no	coding-synonymous	OR4C11	NM_001004700.2		4,52,6125	AA,AG,GG		0.0,1.3774,0.4854		236/311	55371142	60,12302	2178	4003	6181	SO:0001819	synonymous_variant	219429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55371142G>A	AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"""GPCR / Class A : Olfactory receptors"""	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.708C>T	11.37:g.55371142G>A							p.S236S	NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN			1	708	-			236			Helical; Name=6; (Potential).		B9EIL4|Q8NGL8	Silent	SNP	ENST00000302231.4	37	c.708C>T	CCDS31503.1																																																																																				0.413	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1	NM_001004700		5	25	0	0	0	0.001168	0	5	25				
OR4C6	219432	broad.mit.edu	37	11	55433503	55433503	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:55433503G>A	ENST00000314259.3	+	1	890	c.861G>A	c.(859-861)ctG>ctA	p.L287L		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	287						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TCTATACACTGAGGAATGCAG	0.453																																							uc001nht.3		NA																	0				skin(2)	2						c.(859-861)CTG>CTA		olfactory receptor, family 4, subfamily C,							84.0	84.0	84.0					11																	55433503		2200	4296	6496	SO:0001819	synonymous_variant	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433503G>A	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.861G>A	11.37:g.55433503G>A						OR4C6_uc010rik.1_Silent_p.L287L	p.L287L	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN			3	1126	+			287			Helical; Name=7; (Potential).		B2RP11|Q6IFD2	Silent	SNP	ENST00000314259.3	37	c.861G>A	CCDS31506.1																																																																																				0.453	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		14	31	0	0	0	0.007413	0	14	31				
OR5D13	390142	broad.mit.edu	37	11	55540930	55540930	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:55540930G>C	ENST00000361760.1	+	1	17	c.17G>C	c.(16-18)aGa>aCa	p.R6T		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	6						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R6I(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				GCATCTGAAAGAAATCAAAGC	0.378																																							uc010ril.1		NA																	1	Substitution - Missense(1)	p.R6I(1)	pancreas(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(16-18)AGA>ACA		olfactory receptor, family 5, subfamily D,							90.0	92.0	92.0					11																	55540930		2200	4296	6496	SO:0001583	missense	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55540930G>C	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.17G>C	11.37:g.55540930G>C	ENSP00000354800:p.Arg6Thr						p.R6T	NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN			1	17	+		all_epithelial(135;0.196)	6			Extracellular (Potential).		Q6IF68|Q6IFC9	Missense_Mutation	SNP	ENST00000361760.1	37	c.17G>C	CCDS31507.1	.	.	.	.	.	.	.	.	.	.	G	3.728	-0.056175	0.07362	.	.	ENSG00000198877	ENST00000361760	T	0.00241	8.46	3.43	-0.99	0.10238	.	2.614400	0.02383	U	0.078988	T	0.00178	0.0005	L	0.38649	1.16	0.09310	N	1	B	0.12013	0.005	B	0.12156	0.007	T	0.37979	-0.9682	10	0.41790	T	0.15	2.0586	3.8268	0.08858	0.4124:0.0:0.4234:0.1642	.	6	Q8NGL4	OR5DD_HUMAN	T	6	ENSP00000354800:R6T	ENSP00000354800:R6T	R	+	2	0	OR5D13	55297506	0.004000	0.15560	0.000000	0.03702	0.000000	0.00434	0.111000	0.15458	-0.391000	0.07763	-1.549000	0.00901	AGA		0.378	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		10	73	0	0	0	0.003163	0	10	73				
TRIM51	84767	broad.mit.edu	37	11	55653632	55653632	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:55653632G>T	ENST00000449290.2	+	3	537	c.445G>T	c.(445-447)Gaa>Taa	p.E149*	TRIM51_ENST00000244891.3_Nonsense_Mutation_p.E6*	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	149						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										GTCTTTATGGGAAAAAGCTTG	0.408																																							uc010rip.1		NA																	0					0						c.(445-447)GAA>TAA		SPRY domain containing 5							65.0	67.0	66.0					11																	55653632		2201	4296	6497	SO:0001587	stop_gained	84767					intracellular	zinc ion binding	g.chr11:55653632G>T	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.445G>T	11.37:g.55653632G>T	ENSP00000395086:p.Glu149*					SPRYD5_uc010riq.1_Nonsense_Mutation_p.E6*	p.E149*	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN			3	537	+		all_epithelial(135;0.226)	149					A6NMG2	Nonsense_Mutation	SNP	ENST00000449290.2	37	c.445G>T		.	.	.	.	.	.	.	.	.	.	.	10.44	1.350599	0.24512	.	.	ENSG00000124900	ENST00000449290;ENST00000244891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	.	.	.	.	.	.	.	X	149;6	.	ENSP00000244891:E6X	E	+	1	0	SPRYD5	55410208	0.053000	0.20554	0.090000	0.20809	0.178000	0.23041	-0.018000	0.12568	0.495000	0.27882	0.152000	0.16155	GAA		0.408	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		3	28	1	0	0.00024832	0.009096	0.000277424	3	28				
OR5AS1	219447	broad.mit.edu	37	11	55798346	55798346	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:55798346G>T	ENST00000313555.1	+	1	452	c.452G>T	c.(451-453)aGt>aTt	p.S151I		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	151						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					GCATATTTCAGTGGAAGTACA	0.448																																							uc010riw.1		NA																	0				ovary(3)|liver(1)|skin(1)	5						c.(451-453)AGT>ATT		olfactory receptor, family 5, subfamily AS,							231.0	204.0	213.0					11																	55798346		2201	4296	6497	SO:0001583	missense	219447				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55798346G>T	AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"""GPCR / Class A : Olfactory receptors"""	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.452G>T	11.37:g.55798346G>T	ENSP00000324111:p.Ser151Ile						p.S151I	NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN			1	452	+	Esophageal squamous(21;0.00693)		151			Helical; Name=4; (Potential).		Q6IFB8	Missense_Mutation	SNP	ENST00000313555.1	37	c.452G>T	CCDS31516.1	.	.	.	.	.	.	.	.	.	.	G	0.311	-0.967724	0.02232	.	.	ENSG00000181785	ENST00000313555	T	0.35048	1.33	5.46	3.46	0.39613	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40728	U	0.001035	T	0.18130	0.0435	N	0.11064	0.09	0.09310	N	1	B	0.14012	0.009	B	0.17098	0.017	T	0.16808	-1.0390	10	0.23302	T	0.38	.	8.9711	0.35908	0.0:0.3193:0.543:0.1377	.	151	Q8N127	O5AS1_HUMAN	I	151	ENSP00000324111:S151I	ENSP00000324111:S151I	S	+	2	0	OR5AS1	55554922	0.000000	0.05858	0.005000	0.12908	0.008000	0.06430	-0.509000	0.06336	1.295000	0.44724	-0.165000	0.13383	AGT		0.448	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921		9	111	1	0	0.00829132	0.008291	0.00871937	9	111				
OR5AS1	219447	broad.mit.edu	37	11	55798392	55798392	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:55798392G>T	ENST00000313555.1	+	1	498	c.498G>T	c.(496-498)ctG>ctT	p.L166L		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					CATTCAGGCTGTCATTTTGTG	0.438																																							uc010riw.1		NA																	0				ovary(3)|liver(1)|skin(1)	5						c.(496-498)CTG>CTT		olfactory receptor, family 5, subfamily AS,							268.0	253.0	258.0					11																	55798392		2201	4296	6497	SO:0001819	synonymous_variant	219447				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55798392G>T	AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"""GPCR / Class A : Olfactory receptors"""	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.498G>T	11.37:g.55798392G>T							p.L166L	NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN			1	498	+	Esophageal squamous(21;0.00693)		166			Extracellular (Potential).		Q6IFB8	Silent	SNP	ENST00000313555.1	37	c.498G>T	CCDS31516.1																																																																																				0.438	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921		15	162	1	0	2.35188e-11	0.006122	3.34985e-11	15	162				
OR5AS1	219447	broad.mit.edu	37	11	55798567	55798567	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:55798567G>T	ENST00000313555.1	+	1	673	c.673G>T	c.(673-675)Gtg>Ttg	p.V225L		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	225						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					CCTCATCACTGTGTTGAGCAT	0.448																																							uc010riw.1		NA																	0				ovary(3)|liver(1)|skin(1)	5						c.(673-675)GTG>TTG		olfactory receptor, family 5, subfamily AS,							192.0	180.0	184.0					11																	55798567		2201	4296	6497	SO:0001583	missense	219447				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55798567G>T	AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"""GPCR / Class A : Olfactory receptors"""	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.673G>T	11.37:g.55798567G>T	ENSP00000324111:p.Val225Leu						p.V225L	NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN			1	673	+	Esophageal squamous(21;0.00693)		225			Cytoplasmic (Potential).		Q6IFB8	Missense_Mutation	SNP	ENST00000313555.1	37	c.673G>T	CCDS31516.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.212713	0.39102	.	.	ENSG00000181785	ENST00000313555	T	0.00291	8.27	5.23	2.34	0.29019	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31747	U	0.007121	T	0.00241	0.0007	M	0.68952	2.095	0.09310	N	1	P	0.39809	0.689	B	0.38921	0.285	T	0.40021	-0.9585	10	0.87932	D	0	.	7.5541	0.27814	0.3402:0.0:0.6598:0.0	.	225	Q8N127	O5AS1_HUMAN	L	225	ENSP00000324111:V225L	ENSP00000324111:V225L	V	+	1	0	OR5AS1	55555143	0.110000	0.22057	0.039000	0.18376	0.543000	0.35085	1.300000	0.33436	0.595000	0.29777	0.643000	0.83706	GTG		0.448	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921		39	74	1	0	4.42602e-33	0.00874	7.94867e-33	39	74				
OR5T3	390154	broad.mit.edu	37	11	56020058	56020058	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:56020058C>G	ENST00000303059.3	+	1	383	c.383C>G	c.(382-384)gCa>gGa	p.A128G		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	128						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					ATCGGATGTGCAACACAGATG	0.373																																							uc010rjd.1		NA																	0					0						c.(382-384)GCA>GGA		olfactory receptor, family 5, subfamily T,							180.0	177.0	178.0					11																	56020058		2201	4295	6496	SO:0001583	missense	390154				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56020058C>G	AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"""GPCR / Class A : Olfactory receptors"""	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.383C>G	11.37:g.56020058C>G	ENSP00000305403:p.Ala128Gly						p.A128G	NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN			1	383	+	Esophageal squamous(21;0.00448)		128			Extracellular (Potential).		Q6IFC7	Missense_Mutation	SNP	ENST00000303059.3	37	c.383C>G	CCDS31524.1	.	.	.	.	.	.	.	.	.	.	c	7.401	0.632688	0.14322	.	.	ENSG00000172489	ENST00000303059	T	0.00406	7.55	4.55	3.56	0.40772	GPCR, rhodopsin-like superfamily (1);	0.152011	0.30028	U	0.010593	T	0.00356	0.0011	L	0.50993	1.605	0.19300	N	0.999978	B	0.17667	0.023	B	0.23419	0.046	T	0.42865	-0.9426	10	0.72032	D	0.01	.	7.5401	0.27733	0.0:0.6479:0.0:0.3521	.	128	Q8NGG3	OR5T3_HUMAN	G	128	ENSP00000305403:A128G	ENSP00000305403:A128G	A	+	2	0	OR5T3	55776634	0.000000	0.05858	0.497000	0.27552	0.164000	0.22412	-1.059000	0.03479	1.127000	0.42034	0.643000	0.83706	GCA		0.373	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391599.1	NM_001004747		12	90	0	0	0	0.00245	0	12	90				
OR8J1	219477	broad.mit.edu	37	11	56127745	56127745	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:56127745G>T	ENST00000303039.3	+	1	55	c.23G>T	c.(22-24)aGa>aTa	p.R8I		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	8						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)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					AATTTCACCAGAGTCACTGAG	0.453																																							uc010rjh.1		NA																	0				ovary(2)	2						c.(22-24)AGG>ATG		olfactory receptor, family 8, subfamily J,							62.0	67.0	65.0					11																	56127745		2200	4295	6495	SO:0001583	missense	219477				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56127745G>T	AB065748	CCDS31529.1	11q11	2012-08-09			ENSG00000172487	ENSG00000172487		"""GPCR / Class A : Olfactory receptors"""	14855	protein-coding gene	gene with protein product							Standard	NM_001005205		Approved		uc010rjh.2	Q8NGP2	OTTHUMG00000166859	ENST00000303039.3:c.23G>T	11.37:g.56127745G>T	ENSP00000304060:p.Arg8Ile						p.R8M	NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN			1	23	+	Esophageal squamous(21;0.00448)		8			Extracellular (Potential).		B2RNQ6|B9EH63|Q6IFC2|Q96RC3	Missense_Mutation	SNP	ENST00000303039.3	37	c.23G>T	CCDS31529.1	.	.	.	.	.	.	.	.	.	.	G	0.594	-0.831757	0.02713	.	.	ENSG00000172487	ENST00000303039	T	0.19394	2.15	4.68	-8.0	0.01126	.	2.241330	0.01349	N	0.011856	T	0.10252	0.0251	N	0.14661	0.345	0.09310	N	1	B	0.17852	0.024	B	0.22880	0.042	T	0.16928	-1.0386	10	0.22706	T	0.39	.	5.1102	0.14806	0.5795:0.0957:0.2286:0.0962	.	8	Q8NGP2	OR8J1_HUMAN	I	8	ENSP00000304060:R8I	ENSP00000304060:R8I	R	+	2	0	OR8J1	55884321	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-3.081000	0.00613	-1.557000	0.01692	-0.822000	0.03109	AGA		0.453	OR8J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391606.2	NM_001005205		11	24	1	0	9.05144e-12	0.001855	1.30675e-11	11	24				
OR5M3	219482	broad.mit.edu	37	11	56237279	56237279	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:56237279C>A	ENST00000312240.2	-	1	735	c.695G>T	c.(694-696)aGg>aTg	p.R232M		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					GGCCTTCTGCCTTCCTTCTGC	0.443																																							uc010rjk.1		NA																	0				ovary(2)	2						c.(694-696)AGG>ATG		olfactory receptor, family 5, subfamily M,							56.0	54.0	55.0					11																	56237279		2201	4293	6494	SO:0001583	missense	219482				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56237279C>A	AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"""GPCR / Class A : Olfactory receptors"""	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.695G>T	11.37:g.56237279C>A	ENSP00000312208:p.Arg232Met						p.R232M	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN			1	695	-	Esophageal squamous(21;0.00448)		232			Cytoplasmic (Potential).		B2RNM7|Q6IEW4|Q96RC0	Missense_Mutation	SNP	ENST00000312240.2	37	c.695G>T	CCDS31532.1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.729402	0.30684	.	.	ENSG00000174937	ENST00000312240	T	0.00333	8.07	5.08	5.08	0.68730	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47455	D	0.000226	T	0.01558	0.0050	H	0.97390	3.995	0.09310	N	1	D	0.89917	1.0	D	0.76071	0.987	T	0.16808	-1.0390	10	0.87932	D	0	-16.5743	15.9666	0.79979	0.0:1.0:0.0:0.0	.	232	Q8NGP4	OR5M3_HUMAN	M	232	ENSP00000312208:R232M	ENSP00000312208:R232M	R	-	2	0	OR5M3	55993855	0.000000	0.05858	0.208000	0.23602	0.089000	0.18198	0.677000	0.25262	2.341000	0.79615	0.549000	0.68633	AGG		0.443	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742		7	31	1	0	2.0095e-06	0.001984	2.44928e-06	7	31				
P2RX3	5024	broad.mit.edu	37	11	57114087	57114087	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:57114087G>A	ENST00000263314.2	+	2	223	c.189G>A	c.(187-189)aaG>aaA	p.K63K		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	63					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of synaptic plasticity (GO:0048167)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to cold (GO:0009409)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)|transport (GO:0006810)|urinary bladder smooth muscle contraction (GO:0014832)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						TGGTAACCAAGGTGAAGGGCT	0.542																																							uc001nju.2		NA																	0					0						c.(187-189)AAG>AAA		purinergic receptor P2X3							140.0	101.0	114.0					11																	57114087		2201	4296	6497	SO:0001819	synonymous_variant	5024				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	g.chr11:57114087G>A	Y07683	CCDS7953.1	11q12	2012-01-17			ENSG00000109991	ENSG00000109991		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8534	protein-coding gene	gene with protein product		600843				9221902	Standard	NM_002559		Approved	P2X3	uc001nju.3	P56373	OTTHUMG00000167025	ENST00000263314.2:c.189G>A	11.37:g.57114087G>A							p.K63K	NM_002559	NP_002550	P56373	P2RX3_HUMAN			2	265	+			63			Extracellular (Potential).		Q6DK37|Q9UQB6	Silent	SNP	ENST00000263314.2	37	c.189G>A	CCDS7953.1																																																																																				0.542	P2RX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392465.1	NM_002559		11	34	0	0	0	0.001368	0	11	34				
OR10W1	81341	broad.mit.edu	37	11	58034486	58034486	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:58034486G>T	ENST00000395079.2	-	1	1246	c.845C>A	c.(844-846)gCc>gAc	p.A282D		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	282						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				GTTCCTCAGGGCATAGATAAG	0.537																																							uc001nmq.1		NA																	0				ovary(1)	1						c.(844-846)GCC>GAC		olfactory receptor, family 10, subfamily W,							107.0	100.0	102.0					11																	58034486		2201	4295	6496	SO:0001583	missense	81341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58034486G>T	AB065850	CCDS7968.1	11q12.1	2012-08-09	2004-03-04	2004-03-05		ENSG00000172772		"""GPCR / Class A : Olfactory receptors"""	15139	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily W, member 1 pseudogene"""	OR10W1P			Standard	NM_207374		Approved		uc001nmq.1	Q8NGF6		ENST00000395079.2:c.845C>A	11.37:g.58034486G>T	ENSP00000378516:p.Ala282Asp						p.A282D	NM_207374	NP_997257	Q8NGF6	O10W1_HUMAN			1	1247	-		Breast(21;0.0589)	282			Helical; Name=7; (Potential).		A2RUD2|A8MTE1|Q6UXQ2	Missense_Mutation	SNP	ENST00000395079.2	37	c.845C>A	CCDS7968.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.628210	0.46944	.	.	ENSG00000172772	ENST00000395079	T	0.40225	1.04	5.7	5.7	0.88788	.	0.123933	0.36778	N	0.002409	T	0.38268	0.1034	L	0.45352	1.415	0.25608	N	0.986525	B	0.21520	0.057	B	0.18871	0.023	T	0.37865	-0.9687	10	0.87932	D	0	.	14.883	0.70547	0.0:0.1442:0.8558:0.0	.	282	Q8NGF6	O10W1_HUMAN	D	282	ENSP00000378516:A282D	ENSP00000378516:A282D	A	-	2	0	OR10W1	57791062	0.574000	0.26684	0.923000	0.36655	0.907000	0.53573	2.482000	0.45224	2.694000	0.91930	0.655000	0.94253	GCC		0.537	OR10W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394704.1	NM_207374		31	59	1	0	3.03874e-20	0.003271	5.04309e-20	31	59				
OR5B2	390190	broad.mit.edu	37	11	58190537	58190537	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:58190537C>A	ENST00000302581.2	-	1	249	c.198G>T	c.(196-198)ctG>ctT	p.L66L		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	66						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CAAAGTCCACCAGAGACAGGT	0.507																																							uc010rkg.1		NA																	0				ovary(3)	3						c.(196-198)CTG>CTT		olfactory receptor, family 5, subfamily B,							107.0	98.0	101.0					11																	58190537		2201	4295	6496	SO:0001819	synonymous_variant	390190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58190537C>A	AB065852	CCDS31550.1	11q12.1	2012-08-09			ENSG00000172365	ENSG00000172365		"""GPCR / Class A : Olfactory receptors"""	8323	protein-coding gene	gene with protein product							Standard	NM_001005566		Approved	OST073	uc010rkg.2	Q96R09	OTTHUMG00000167517	ENST00000302581.2:c.198G>T	11.37:g.58190537C>A							p.L66L	NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN			1	198	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	66			Helical; Name=2; (Potential).		B2RNJ6|B9EGY7|Q6IEV7|Q8NGF5	Silent	SNP	ENST00000302581.2	37	c.198G>T	CCDS31550.1																																																																																				0.507	OR5B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394887.2	NM_001005566		28	46	1	0	8.4185e-14	0.002445	1.26448e-13	28	46				
OOSP2	219990	broad.mit.edu	37	11	59811111	59811111	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:59811111C>G	ENST00000278855.2	+	2	419	c.234C>G	c.(232-234)atC>atG	p.I78M	PLAC1L_ENST00000532905.1_Missense_Mutation_p.I47M	NM_173801.3	NP_776162.2	Q86WS3	OOSP2_HUMAN		78						extracellular region (GO:0005576)				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						ATTGTGGCATCAGGACAAGGG	0.323																																							uc001nol.2		NA																	0				ovary(2)|skin(1)	3						c.(232-234)ATC>ATG		placenta-specific 1-like precursor							76.0	74.0	75.0					11																	59811111		2201	4295	6496	SO:0001583	missense	219990					extracellular region		g.chr11:59811111C>G																												ENST00000278855.2:c.234C>G	11.37:g.59811111C>G	ENSP00000278855:p.Ile78Met						p.I78M	NM_173801	NP_776162	Q86WS3	PLACL_HUMAN			2	419	+			78					E9PJA4|Q8N9U6	Missense_Mutation	SNP	ENST00000278855.2	37	c.234C>G	CCDS7979.1	.	.	.	.	.	.	.	.	.	.	C	9.234	1.036581	0.19669	.	.	ENSG00000149507	ENST00000278855;ENST00000532905	D;D	0.82081	-1.57;-1.57	3.4	2.47	0.30058	.	0.000000	0.38548	N	0.001654	D	0.88134	0.6355	M	0.71206	2.165	0.27640	N	0.947737	D	0.89917	1.0	D	0.87578	0.998	T	0.79567	-0.1750	10	0.87932	D	0	-12.5967	8.0157	0.30379	0.2432:0.7568:0.0:0.0	.	78	Q86WS3	PLACL_HUMAN	M	78;47	ENSP00000278855:I78M;ENSP00000433831:I47M	ENSP00000278855:I78M	I	+	3	3	PLAC1L	59567687	1.000000	0.71417	0.981000	0.43875	0.015000	0.08874	1.233000	0.32648	0.979000	0.38497	-0.321000	0.08615	ATC		0.323	PLAC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394411.1			6	44	0	0	0	0.001984	0	6	44				
MS4A3	932	broad.mit.edu	37	11	59828659	59828659	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:59828659C>G	ENST00000278865.3	+	2	99	c.26C>G	c.(25-27)gCa>gGa	p.A9G	MS4A3_ENST00000526199.1_3'UTR|MS4A3_ENST00000358152.2_Missense_Mutation_p.A9G|MS4A3_ENST00000395032.2_Intron|MS4A3_ENST00000534744.1_Missense_Mutation_p.A9G	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	9						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				GTTGATAATGCAGAGCTGGGG	0.493																																							uc001nom.2		NA																	0				ovary(2)|skin(1)	3						c.(25-27)GCA>GGA		membrane-spanning 4-domains, subfamily A, member							84.0	83.0	84.0					11																	59828659		2201	4295	6496	SO:0001583	missense	932					endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity	g.chr11:59828659C>G	L35848	CCDS31567.1, CCDS31568.1, CCDS41651.1	11q12-q13.1	2008-03-25				ENSG00000149516			7317	protein-coding gene	gene with protein product		606498		CD20L		7524084	Standard	NM_006138		Approved	HTM4	uc001nom.3	Q96HJ5		ENST00000278865.3:c.26C>G	11.37:g.59828659C>G	ENSP00000278865:p.Ala9Gly					MS4A3_uc001non.2_Missense_Mutation_p.A9G|MS4A3_uc001noo.2_Intron	p.A9G	NM_006138	NP_006129	Q96HJ5	MS4A3_HUMAN			2	154	+		all_epithelial(135;0.245)	9			Cytoplasmic (Potential).		A8MTP8|Q8NHW2	Missense_Mutation	SNP	ENST00000278865.3	37	c.26C>G	CCDS31567.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.573530	0.45902	.	.	ENSG00000149516	ENST00000358152;ENST00000278865;ENST00000534744	T;T;T	0.40756	1.02;2.91;1.02	3.94	2.99	0.34606	.	0.931547	0.09111	N	0.847085	T	0.31040	0.0784	N	0.24115	0.695	0.09310	N	1	P;P	0.50819	0.939;0.816	P;B	0.44673	0.457;0.269	T	0.07233	-1.0783	10	0.22109	T	0.4	0.8829	8.7348	0.34521	0.2267:0.7733:0.0:0.0	.	9;9	Q96HJ5-2;Q96HJ5	.;MS4A3_HUMAN	G	9	ENSP00000350872:A9G;ENSP00000278865:A9G;ENSP00000434117:A9G	ENSP00000278865:A9G	A	+	2	0	MS4A3	59585235	0.003000	0.15002	0.003000	0.11579	0.030000	0.12068	0.430000	0.21428	0.938000	0.37419	0.563000	0.77884	GCA		0.493	MS4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394417.1			19	28	0	0	0	0.001882	0	19	28				
CD5	921	broad.mit.edu	37	11	60886854	60886854	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:60886854C>A	ENST00000347785.3	+	5	778	c.612C>A	c.(610-612)ctC>ctA	p.L204L		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	204	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic signaling pathway (GO:0097190)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		GCAACAACCTCCAGTGTGGCT	0.607																																							uc009ynk.2		NA																	0				ovary(1)	1						c.(610-612)CTC>CTA		CD5 molecule precursor							71.0	73.0	72.0					11																	60886854		2203	4299	6502	SO:0001819	synonymous_variant	921				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity	g.chr11:60886854C>A	X04391	CCDS8000.1	11q13	2008-07-18	2006-03-28		ENSG00000110448	ENSG00000110448		"""CD molecules"""	1685	protein-coding gene	gene with protein product		153340	"""CD5 antigen (p56-62)"""	LEU1		1711157	Standard	NM_014207		Approved	T1	uc009ynk.3	P06127	OTTHUMG00000167825	ENST00000347785.3:c.612C>A	11.37:g.60886854C>A							p.L204L	NM_014207	NP_055022	P06127	CD5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)	5	715	+		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)	204			Extracellular (Potential).|SRCR 2.		A0N0P4|A8K9I3	Silent	SNP	ENST00000347785.3	37	c.612C>A	CCDS8000.1																																																																																				0.607	CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396465.2	NM_014207		5	47	1	0	0.00198382	0.001984	0.00213454	5	47				
VWCE	220001	broad.mit.edu	37	11	61026292	61026293	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:61026292_61026293GG>AA	ENST00000335613.5	-	20	3108_3109	c.2722_2723CC>TT	c.(2722-2724)CCc>TTc	p.P908F	VWCE_ENST00000535710.1_Missense_Mutation_p.P373F	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	908						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GGTCTTCGAGGGGCTGGGGTCC	0.649																																							uc001nra.2		NA																	0				ovary(1)	1						c.(2722-2724)CCC>TTC		von Willebrand factor C and EGF domains																																				SO:0001583	missense	220001					extracellular region	calcium ion binding	g.chr11:61026292_61026293GG>AA	AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.2722_2723delinsAA	11.37:g.61026292_61026293delinsAA	ENSP00000334186:p.Pro908Phe					VWCE_uc001nrb.2_RNA	p.P908F	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN			20	3001_3002	-			908					A5PKV0|Q7Z7L6|Q86WK8	Missense_Mutation	DNP	ENST00000335613.5	37	c.2722_2723CC>TT	CCDS8002.1																																																																																				0.649	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1	NM_152718		18	35	0	0	0	0.004672	0	18	35				
VWCE	220001	broad.mit.edu	37	11	61026361	61026361	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:61026361G>A	ENST00000335613.5	-	20	3040	c.2654C>T	c.(2653-2655)tCc>tTc	p.S885F	VWCE_ENST00000535710.1_Missense_Mutation_p.S350F	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	885						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						AGGCCACCTGGACACTATCTG	0.647																																							uc001nra.2		NA																	0				ovary(1)	1						c.(2653-2655)TCC>TTC		von Willebrand factor C and EGF domains							35.0	39.0	38.0					11																	61026361		2203	4299	6502	SO:0001583	missense	220001					extracellular region	calcium ion binding	g.chr11:61026361G>A	AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.2654C>T	11.37:g.61026361G>A	ENSP00000334186:p.Ser885Phe					VWCE_uc001nrb.2_RNA	p.S885F	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN			20	2933	-			885					A5PKV0|Q7Z7L6|Q86WK8	Missense_Mutation	SNP	ENST00000335613.5	37	c.2654C>T	CCDS8002.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.477251	0.26511	.	.	ENSG00000167992	ENST00000335613;ENST00000535710	T;T	0.69175	-0.38;3.49	4.37	3.45	0.39498	.	0.391239	0.18958	N	0.126483	T	0.47857	0.1468	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.36866	-0.9730	10	0.44086	T	0.13	.	7.599	0.28065	0.1229:0.0:0.8771:0.0	.	885	Q96DN2	VWCE_HUMAN	F	885;350	ENSP00000334186:S885F;ENSP00000442570:S350F	ENSP00000334186:S885F	S	-	2	0	VWCE	60782937	0.065000	0.20965	0.006000	0.13384	0.003000	0.03518	2.974000	0.49272	0.923000	0.37045	0.561000	0.74099	TCC		0.647	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1	NM_152718		3	11	0	0	0	0.004672	0	3	11				
FERMT3	83706	broad.mit.edu	37	11	63988070	63988070	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:63988070G>T	ENST00000279227.5	+	12	1581	c.1486G>T	c.(1486-1488)Gcc>Tcc	p.A496S	FERMT3_ENST00000345728.5_Missense_Mutation_p.A492S	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	496	FERM.				integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|platelet aggregation (GO:0070527)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|podosome (GO:0002102)	integrin binding (GO:0005178)			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						CGGCCCTGATGCCTCTGCCGA	0.672																																							uc001nyl.2		NA																	0				ovary(1)	1						c.(1486-1488)GCC>TCC		fermitin family homolog 3 long form							13.0	13.0	13.0					11																	63988070		2193	4280	6473	SO:0001583	missense	83706				integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding	g.chr11:63988070G>T	L25343	CCDS8059.1, CCDS8060.1	11q13.1	2014-09-17	2010-06-24		ENSG00000149781	ENSG00000149781		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	23151	protein-coding gene	gene with protein product	"""kindlin-3"""	607901	"""fermitin family homolog 3 (Drosophila)"""				Standard	NM_178443		Approved	URP2, KIND3, MIG2B, MGC10966, MIG-2, UNC112C	uc001nym.2	Q86UX7	OTTHUMG00000167790	ENST00000279227.5:c.1486G>T	11.37:g.63988070G>T	ENSP00000279227:p.Ala496Ser					FERMT3_uc001nym.2_Missense_Mutation_p.A492S	p.A496S	NM_178443	NP_848537	Q86UX7	URP2_HUMAN			12	1635	+			496			FERM.		Q8IUA1|Q8N207|Q9BT48	Missense_Mutation	SNP	ENST00000279227.5	37	c.1486G>T	CCDS8060.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.474|3.474	-0.107387|-0.107387	0.06924|0.06924	.|.	.|.	ENSG00000149781|ENSG00000149781	ENST00000345728;ENST00000279227|ENST00000545896	T;T|T	0.71461|0.55413	-0.57;-0.57|0.52	4.31|4.31	2.24|2.24	0.28232|0.28232	Band 4.1 domain (1);FERM central domain (2);|.	0.380719|.	0.26567|.	N|.	0.023655|.	T|T	0.35393|0.35393	0.0930|0.0930	N|N	0.14661|0.14661	0.345|0.345	0.28699|0.28699	N|N	0.904199|0.904199	B;B|.	0.29481|.	0.011;0.245|.	B;B|.	0.35182|.	0.007;0.197|.	T|T	0.33266|0.33266	-0.9875|-0.9875	10|7	0.09843|0.62326	T|D	0.71|0.03	-21.9595|-21.9595	5.0431|5.0431	0.14469|0.14469	0.1089:0.0:0.6873:0.2038|0.1089:0.0:0.6873:0.2038	.|.	492;496|.	Q86UX7-2;Q86UX7|.	.;URP2_HUMAN|.	S|I	492;496|54	ENSP00000339950:A492S;ENSP00000279227:A496S|ENSP00000440209:M54I	ENSP00000279227:A496S|ENSP00000440209:M54I	A|M	+|+	1|3	0|0	FERMT3|FERMT3	63744646|63744646	0.025000|0.025000	0.19082|0.19082	0.556000|0.556000	0.28293|0.28293	0.491000|0.491000	0.33493|0.33493	1.038000|1.038000	0.30254|0.30254	1.148000|1.148000	0.42385|0.42385	0.561000|0.561000	0.74099|0.74099	GCC|ATG		0.672	FERMT3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396297.1	NM_031471		6	5	1	0	0.00198382	0.001984	0.00213454	6	5				
NPAS4	266743	broad.mit.edu	37	11	66191339	66191339	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:66191339G>T	ENST00000311034.2	+	7	1154	c.978G>T	c.(976-978)ttG>ttT	p.L326F		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	326					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						GCCAGCAGTTGAACTCTGAAG	0.552																																							uc001ohx.1		NA																	0					0						c.(976-978)TTG>TTT		neuronal PAS domain protein 4							90.0	93.0	92.0					11																	66191339		2200	4295	6495	SO:0001583	missense	266743				transcription, DNA-dependent		DNA binding|signal transducer activity	g.chr11:66191339G>T	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.978G>T	11.37:g.66191339G>T	ENSP00000311196:p.Leu326Phe					NPAS4_uc010rpc.1_Missense_Mutation_p.L116F	p.L326F	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN			7	1154	+			326					B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	ENST00000311034.2	37	c.978G>T	CCDS8138.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.753936	0.49362	.	.	ENSG00000174576	ENST00000311034	T	0.51325	0.71	4.71	1.56	0.23342	.	0.167110	0.28515	N	0.015066	T	0.49287	0.1548	L	0.29908	0.895	0.50632	D	0.999887	D	0.76494	0.999	D	0.73708	0.981	T	0.47923	-0.9079	10	0.72032	D	0.01	-4.7765	6.1353	0.20227	0.1907:0.157:0.6523:0.0	.	326	Q8IUM7	NPAS4_HUMAN	F	326	ENSP00000311196:L326F	ENSP00000311196:L326F	L	+	3	2	NPAS4	65947915	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	1.830000	0.39131	0.688000	0.31529	0.561000	0.74099	TTG		0.552	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864		24	48	1	0	4.59853e-10	0.005443	6.34324e-10	24	48				
CCDC87	55231	broad.mit.edu	37	11	66358319	66358319	+	Missense_Mutation	SNP	C	C	A	rs201450672		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:66358319C>A	ENST00000333861.3	-	1	2235	c.2168G>T	c.(2167-2169)cGg>cTg	p.R723L	CCS_ENST00000310190.4_5'Flank|CCS_ENST00000533244.1_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	723					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)			p.R723Q(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CTTCAGGGCCCGCTCCCAGGC	0.552																																							uc001oiq.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2167-2169)CGG>CTG		coiled-coil domain containing 87							74.0	83.0	80.0					11																	66358319		2200	4295	6495	SO:0001583	missense	55231							g.chr11:66358319C>A	BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.2168G>T	11.37:g.66358319C>A	ENSP00000328487:p.Arg723Leu					CCS_uc001oir.2_5'Flank	p.R723L	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN			1	2236	-			723					Q8NE76	Missense_Mutation	SNP	ENST00000333861.3	37	c.2168G>T	CCDS8145.1	.	.	.	.	.	.	.	.	.	.	C	10.01	1.233740	0.22626	.	.	ENSG00000182791	ENST00000333861	T	0.29917	1.55	5.07	-10.1	0.00402	.	1.037910	0.07693	N	0.938971	T	0.23451	0.0567	L	0.47716	1.5	0.09310	N	1	P	0.43169	0.8	B	0.36922	0.236	T	0.41342	-0.9514	10	0.51188	T	0.08	.	16.5756	0.84635	0.0:0.1922:0.0:0.8078	.	723	Q9NVE4	CCD87_HUMAN	L	723	ENSP00000328487:R723L	ENSP00000328487:R723L	R	-	2	0	CCDC87	66114895	0.000000	0.05858	0.033000	0.17914	0.116000	0.19942	-2.410000	0.01040	-2.253000	0.00698	-0.459000	0.05422	CGG		0.552	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393825.1	NM_018219		12	86	1	0	4.3838e-07	0.001855	5.45499e-07	12	86				
MRGPRF	116535	broad.mit.edu	37	11	68777350	68777350	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:68777350C>T	ENST00000309099.6	-	2	402	c.20G>A	c.(19-21)tGg>tAg	p.W7*	RP11-554A11.6_ENST00000538407.2_RNA|RP11-554A11.6_ENST00000569428.1_RNA|RP11-554A11.6_ENST00000569432.1_RNA|MRGPRF_ENST00000320913.6_Nonsense_Mutation_p.W7*|MRGPRF_ENST00000441623.1_Nonsense_Mutation_p.W7*	NM_145015.4	NP_659452.3	Q96AM1	MRGRF_HUMAN	MAS-related GPR, member F	7						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|lung(4)	7			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ATGGGCCTCCCAGGAGCAGTT	0.677																																							uc001ooo.3		NA																	0					0						c.(19-21)TGG>TAG		MAS-related GPR, member F							76.0	67.0	70.0					11																	68777350		2200	4294	6494	SO:0001587	stop_gained	116535					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:68777350C>T	AK075492	CCDS8188.1	11q13.1	2014-03-13	2004-03-25		ENSG00000172935	ENSG00000172935		"""GPCR / Class A : Orphans"""	24828	protein-coding gene	gene with protein product		607233	"""G protein-coupled receptor 168"", ""G protein-coupled receptor 140"""	GPR168, GPR140		12477932	Standard	NM_001098515		Approved	MGC21621, mrgF	uc001oop.4	Q96AM1	OTTHUMG00000167897	ENST00000309099.6:c.20G>A	11.37:g.68777350C>T	ENSP00000309782:p.Trp7*					MRGPRF_uc001oop.3_Nonsense_Mutation_p.W7*|uc001ooq.2_5'Flank	p.W7*	NM_001098515	NP_001091985	Q96AM1	MRGRF_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		2	387	-			7			Extracellular (Potential).		B3KV43|Q8NBK8	Nonsense_Mutation	SNP	ENST00000309099.6	37	c.20G>A	CCDS8188.1	.	.	.	.	.	.	.	.	.	.	C	34	5.369248	0.95900	.	.	ENSG00000172935	ENST00000441623;ENST00000309099;ENST00000421543;ENST00000320913	.	.	.	3.39	3.39	0.38822	.	0.195629	0.25677	N	0.029040	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.59	10.5297	0.44969	0.0:1.0:0.0:0.0	.	.	.	.	X	7	.	ENSP00000309782:W7X	W	-	2	0	MRGPRF	68533926	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	0.611000	0.24268	1.915000	0.55452	0.456000	0.33151	TGG		0.677	MRGPRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396875.1	NM_145015		13	38	0	0	0	0.004007	0	13	38				
PDE2A	5138	broad.mit.edu	37	11	72290346	72290346	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:72290346G>T	ENST00000334456.5	-	27	2583	c.2338C>A	c.(2338-2340)Ctc>Atc	p.L780I	PDE2A_ENST00000418754.2_Missense_Mutation_p.L665I|PDE2A_ENST00000540345.1_Missense_Mutation_p.L771I|PDE2A_ENST00000376450.3_Missense_Mutation_p.L524I|PDE2A_ENST00000544570.1_Missense_Mutation_p.L773I|PDE2A_ENST00000444035.2_Missense_Mutation_p.L771I	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	780	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	ATCTTCTGGAGGTCCTTGAAG	0.607																																							uc010rrc.1		NA																	0				ovary(2)|breast(1)|skin(1)	4						c.(2338-2340)CTC>ATC		phosphodiesterase 2A isoform 1	Sildenafil(DB00203)|Sulindac(DB00605)						101.0	94.0	96.0					11																	72290346		2200	4293	6493	SO:0001583	missense	5138				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr11:72290346G>T	U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"""Phosphodiesterases"""	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.2338C>A	11.37:g.72290346G>T	ENSP00000334910:p.Leu780Ile					PDE2A_uc001oso.2_Missense_Mutation_p.L759I|PDE2A_uc010rra.1_Missense_Mutation_p.L773I|PDE2A_uc001osn.2_Missense_Mutation_p.L524I|PDE2A_uc010rrb.1_Missense_Mutation_p.L771I|PDE2A_uc010rrd.1_Missense_Mutation_p.L665I	p.L780I	NM_002599	NP_002590	O00408	PDE2A_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		27	2581	-			780			Catalytic (By similarity).		B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Missense_Mutation	SNP	ENST00000334456.5	37	c.2338C>A	CCDS8216.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.444389	0.63178	.	.	ENSG00000186642	ENST00000334456;ENST00000376450;ENST00000444035;ENST00000429363;ENST00000544570;ENST00000418754;ENST00000540345;ENST00000420501;ENST00000441209	D;D;D;D;D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84;-1.84;-1.84;-1.84;-1.84	5.37	5.37	0.77165	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.64402	D	0.000004	D	0.85225	0.5648	N	0.26130	0.795	0.48975	D	0.999737	P;B;B;P;B;B	0.36789	0.57;0.187;0.187;0.516;0.187;0.428	P;B;P;P;B;B	0.49683	0.619;0.335;0.516;0.479;0.399;0.335	D	0.85120	0.0968	10	0.46703	T	0.11	.	17.6997	0.88291	0.0:0.0:1.0:0.0	.	665;780;771;773;780;524	E9PEF1;O00408;E9PGI1;F6W5Z0;B2R646;Q6ZMR1	.;PDE2A_HUMAN;.;.;.;.	I	780;524;771;849;773;665;771;159;321	ENSP00000334910:L780I;ENSP00000365633:L524I;ENSP00000411657:L771I;ENSP00000442256:L773I;ENSP00000410310:L665I;ENSP00000446399:L771I;ENSP00000388997:L159I;ENSP00000392457:L321I	ENSP00000334910:L780I	L	-	1	0	PDE2A	71967994	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.604000	0.61112	2.525000	0.85131	0.650000	0.86243	CTC		0.607	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219839.2	NM_002599		16	80	1	0	3.51602e-12	0.008871	5.14092e-12	16	80				
C2CD3	26005	broad.mit.edu	37	11	73759293	73759293	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:73759293C>A	ENST00000334126.7	-	28	5678	c.5452G>T	c.(5452-5454)Gct>Tct	p.A1818S	C2CD3_ENST00000313663.7_Missense_Mutation_p.A1818S			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1818					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GAGGCATGAGCAAGTTGGTCT	0.468																																							uc001ouu.2		NA																	0				ovary(4)|pancreas(2)|skin(1)	7						c.(5452-5454)GCT>TCT		C2 calcium-dependent domain containing 3							88.0	77.0	81.0					11																	73759293		2200	4293	6493	SO:0001583	missense	26005					centrosome		g.chr11:73759293C>A	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.5452G>T	11.37:g.73759293C>A	ENSP00000334379:p.Ala1818Ser					C2CD3_uc001out.2_RNA	p.A1818S	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN			28	5679	-	Breast(11;4.16e-06)		1818					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37	c.5452G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.066|3.066	-0.192107|-0.192107	0.06299|0.06299	.|.	.|.	ENSG00000168014|ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000414160|ENST00000538361	T;T;T|.	0.13901|.	2.96;2.96;2.55|.	4.75|4.75	-1.71|-1.71	0.08133|0.08133	.|.	0.968208|.	0.08606|.	N|.	0.920740|.	T|T	0.33933|0.33933	0.0880|0.0880	L|L	0.48362|0.48362	1.52|1.52	0.09310|0.09310	N|N	1|1	B|.	0.16802|.	0.019|.	B|.	0.12156|.	0.007|.	T|T	0.33420|0.33420	-0.9869|-0.9869	10|5	0.09590|.	T|.	0.72|.	1.0508|1.0508	4.3345|4.3345	0.11080|0.11080	0.153:0.4071:0.0:0.4399|0.153:0.4071:0.0:0.4399	.|.	1818|.	Q4AC94-1|.	.|.	S|F	1818;1818;1799;626|51	ENSP00000334379:A1818S;ENSP00000323339:A1818S;ENSP00000388750:A626S|.	ENSP00000323339:A1818S|.	A|C	-|-	1|2	0|0	C2CD3|C2CD3	73436941|73436941	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.012000|0.012000	0.07955|0.07955	-0.059000|-0.059000	0.11731|0.11731	-0.419000|-0.419000	0.07439|0.07439	-0.137000|-0.137000	0.14449|0.14449	GCT|TGC		0.468	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		8	13	1	0	1.76689e-08	0.006214	2.32305e-08	8	13				
C11orf30	56946	broad.mit.edu	37	11	76248853	76248853	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:76248853G>A	ENST00000529032.1	+	15	2374	c.2374G>A	c.(2374-2376)Gaa>Aaa	p.E792K	C11orf30_ENST00000524490.1_Missense_Mutation_p.E708K|C11orf30_ENST00000343878.3_Missense_Mutation_p.E792K|C11orf30_ENST00000525038.1_Missense_Mutation_p.E807K|C11orf30_ENST00000334736.3_Missense_Mutation_p.E792K|C11orf30_ENST00000533248.1_Intron|C11orf30_ENST00000525919.1_Missense_Mutation_p.E793K|C11orf30_ENST00000524767.1_Missense_Mutation_p.E807K			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	792					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						GGAAAAATTGGAATCTAAACC	0.393																																							uc001oxl.2		NA																	0				ovary(5)|skin(1)	6						c.(2374-2376)GAA>AAA		EMSY protein							90.0	87.0	88.0					11																	76248853		2200	4292	6492	SO:0001583	missense	56946				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr11:76248853G>A	AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.2374G>A	11.37:g.76248853G>A	ENSP00000432327:p.Glu792Lys					C11orf30_uc001oxm.2_Missense_Mutation_p.E708K|C11orf30_uc010rsb.1_Missense_Mutation_p.E807K|C11orf30_uc010rsc.1_Missense_Mutation_p.E807K|C11orf30_uc001oxn.2_Missense_Mutation_p.E793K|C11orf30_uc010rsd.1_Intron|C11orf30_uc001oxo.1_Missense_Mutation_p.E160K|C11orf30_uc010rse.1_Intron	p.E792K	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN			16	2517	+			792					B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	ENST00000529032.1	37	c.2374G>A	CCDS8244.1	.	.	.	.	.	.	.	.	.	.	G	34	5.355107	0.95854	.	.	ENSG00000158636	ENST00000524490;ENST00000334736;ENST00000343878;ENST00000524767;ENST00000525919;ENST00000525038;ENST00000529032	T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.63094	0.2482	L	0.27053	0.805	0.80722	D	1	D;D;D;D;D;D	0.69078	0.993;0.993;0.996;0.997;0.993;0.997	D;D;D;D;D;D	0.73708	0.971;0.971;0.981;0.98;0.971;0.98	T	0.60131	-0.7323	10	0.40728	T	0.16	-11.2075	20.428	0.99075	0.0:0.0:1.0:0.0	.	807;807;160;793;708;792	B7ZKU2;B7ZKU0;B3KWW8;Q17RM7;E9PMC9;Q7Z589	.;.;.;.;.;EMSY_HUMAN	K	708;792;792;807;793;807;792	ENSP00000334130:E792K;ENSP00000344688:E792K;ENSP00000433205:E807K;ENSP00000432010:E793K;ENSP00000432327:E792K	ENSP00000334130:E792K	E	+	1	0	C11orf30	75926501	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.035000	0.93752	2.837000	0.97791	0.655000	0.94253	GAA		0.393	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193		6	29	0	0	0	0.00308	0	6	29				
MYO7A	4647	broad.mit.edu	37	11	76915168	76915168	+	Missense_Mutation	SNP	G	G	A	rs369424114	byFrequency	TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:76915168G>A	ENST00000409709.3	+	39	5646	c.5374G>A	c.(5374-5376)Gtc>Atc	p.V1792I	MYO7A_ENST00000605744.1_3'UTR|MYO7A_ENST00000409619.2_Missense_Mutation_p.V1743I|MYO7A_ENST00000458637.2_Missense_Mutation_p.V1754I	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1792	MyTH4 2. {ECO:0000255|PROSITE- ProRule:PRU00359}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GACACGCTCCGTCAACGAGCT	0.592													G|||	6	0.00119808	0.0	0.0	5008	,	,		20817	0.002		0.0	False		,,,				2504	0.0041						uc001oyb.2		NA																	0				ovary(3)|breast(1)	4						c.(5374-5376)GTC>ATC		myosin VIIA isoform 1		G	ILE/VAL,ILE/VAL	0,4192		0,0,2096	55.0	58.0	57.0		5374,5260	3.8	1.0	11		57	1,8385		0,1,4192	no	missense,missense	MYO7A	NM_000260.3,NM_001127180.1	29,29	0,1,6288	AA,AG,GG		0.0119,0.0,0.0080	benign,benign	1792/2216,1754/2176	76915168	1,12577	2096	4193	6289	SO:0001583	missense	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76915168G>A	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.5374G>A	11.37:g.76915168G>A	ENSP00000386331:p.Val1792Ile					MYO7A_uc001oyc.2_Missense_Mutation_p.V1754I|MYO7A_uc001oye.2_RNA	p.V1792I	NM_000260	NP_000251	Q13402	MYO7A_HUMAN			39	5646	+			1792			MyTH4 2.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	c.5374G>A	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.722591	0.48728	0.0	1.19E-4	ENSG00000137474	ENST00000409709;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000458169;ENST00000544424	D;D;D;D	0.91843	-2.92;-2.92;-2.92;-2.92	4.68	3.77	0.43336	MyTH4 domain (3);	0.058958	0.64402	N	0.000002	D	0.83464	0.5260	N	0.12569	0.235	0.50632	D	0.999882	B;B	0.17667	0.023;0.011	B;B	0.15870	0.005;0.014	T	0.77040	-0.2735	10	0.37606	T	0.19	.	12.4029	0.55422	0.0825:0.0:0.9175:0.0	.	1754;1792	F8VUN5;Q13402	.;MYO7A_HUMAN	I	1792;1754;1743;965;1791;1761;1668;934;407	ENSP00000386331:V1792I;ENSP00000392185:V1754I;ENSP00000386635:V1743I;ENSP00000417017:V934I	ENSP00000345075:V1668I	V	+	1	0	MYO7A	76592816	1.000000	0.71417	0.961000	0.40146	0.795000	0.44927	3.703000	0.54808	0.940000	0.37473	0.484000	0.47621	GTC		0.592	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		3	9	0	0	0	0.009096	0	3	9				
MYO7A	4647	broad.mit.edu	37	11	76922953	76922953	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:76922953A>T	ENST00000409709.3	+	46	6597	c.6325A>T	c.(6325-6327)Acc>Tcc	p.T2109S	MYO7A_ENST00000605744.1_3'UTR|MYO7A_ENST00000409619.2_Missense_Mutation_p.T2060S|MYO7A_ENST00000458637.2_Missense_Mutation_p.T2071S	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	2109	FERM 2. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CAAGTGGCCCACCTTTGGCTC	0.562																																							uc001oyb.2		NA																	0				ovary(3)|breast(1)	4						c.(6325-6327)ACC>TCC		myosin VIIA isoform 1							55.0	57.0	56.0					11																	76922953		2189	4278	6467	SO:0001583	missense	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76922953A>T	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.6325A>T	11.37:g.76922953A>T	ENSP00000386331:p.Thr2109Ser					MYO7A_uc001oyc.2_Missense_Mutation_p.T2071S|MYO7A_uc001oye.2_RNA	p.T2109S	NM_000260	NP_000251	Q13402	MYO7A_HUMAN			46	6597	+			2109			FERM 2.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	c.6325A>T	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	A	18.85	3.710753	0.68730	.	.	ENSG00000137474	ENST00000409709;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000458169;ENST00000544424	T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74	4.59	4.59	0.56863	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);	0.100486	0.64402	D	0.000002	D	0.84719	0.5534	M	0.84511	2.7	0.80722	D	1	D;P	0.54964	0.969;0.69	P;P	0.58172	0.834;0.692	D	0.87401	0.2369	10	0.62326	D	0.03	.	14.268	0.66133	1.0:0.0:0.0:0.0	.	2071;2109	F8VUN5;Q13402	.;MYO7A_HUMAN	S	2109;2071;2060;1282;2108;2078;1985;1251;724	ENSP00000386331:T2109S;ENSP00000392185:T2071S;ENSP00000386635:T2060S;ENSP00000417017:T1251S	ENSP00000345075:T1985S	T	+	1	0	MYO7A	76600601	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	8.900000	0.92551	1.846000	0.53633	0.459000	0.35465	ACC		0.562	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		7	24	0	0	0	0.00308	0	7	24				
INTS4	92105	broad.mit.edu	37	11	77690143	77690143	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:77690143G>C	ENST00000534064.1	-	4	404	c.370C>G	c.(370-372)Cat>Gat	p.H124D	INTS4_ENST00000529807.1_Missense_Mutation_p.H124D	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	124					snRNA processing (GO:0016180)	integrator complex (GO:0032039)			INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			AGGACTTGATGAGACTCTAGA	0.413																																							uc001oys.2		NA																	0				ovary(2)	2						c.(370-372)CAT>GAT		integrator complex subunit 4							120.0	108.0	112.0					11																	77690143		2200	4292	6492	SO:0001583	missense	92105				snRNA processing	integrator complex	protein binding	g.chr11:77690143G>C	BC015664	CCDS31644.1	11q14.1	2006-04-26			ENSG00000149262	ENSG00000149262			25048	protein-coding gene	gene with protein product		611348				16239144	Standard	NM_033547		Approved	INT4, MGC16733, MST093	uc001oys.3	Q96HW7	OTTHUMG00000166629	ENST00000534064.1:c.370C>G	11.37:g.77690143G>C	ENSP00000434466:p.His124Asp					INTS4_uc001oyt.2_Intron|INTS4_uc001oyu.1_Missense_Mutation_p.H124D|INTS4_uc001oyv.1_RNA	p.H124D	NM_033547	NP_291025	Q96HW7	INT4_HUMAN	Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)		4	398	-	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		124					Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Missense_Mutation	SNP	ENST00000534064.1	37	c.370C>G	CCDS31644.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.462922	0.84425	.	.	ENSG00000149262	ENST00000534064;ENST00000529807	T;T	0.63096	-0.02;1.54	4.99	4.99	0.66335	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75459	0.3852	M	0.68952	2.095	0.80722	D	1	D	0.57899	0.981	D	0.69824	0.966	T	0.69416	-0.5151	10	0.12430	T	0.62	-17.6298	18.4663	0.90757	0.0:0.0:1.0:0.0	.	124	Q96HW7	INT4_HUMAN	D	124	ENSP00000434466:H124D;ENSP00000433644:H124D	ENSP00000433644:H124D	H	-	1	0	INTS4	77367791	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	8.267000	0.89874	2.600000	0.87896	0.655000	0.94253	CAT		0.413	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390927.1	NM_033547		17	48	0	0	0	0.00499	0	17	48				
DDIAS	220042	broad.mit.edu	37	11	82644525	82644525	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:82644525G>C	ENST00000533655.1	+	6	2357	c.2145G>C	c.(2143-2145)gaG>gaC	p.E715D	C11orf82_ENST00000329143.3_Missense_Mutation_p.E414D|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000430323.2_Missense_Mutation_p.E715D|C11orf82_ENST00000525361.1_Intron	NM_145018.3	NP_659455.3	Q8IXT1	DDIAS_HUMAN		715					apoptotic process (GO:0006915)|cellular response to cytokine stimulus (GO:0071345)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to hydroperoxide (GO:0071447)|cellular response to UV (GO:0034644)|hemopoiesis (GO:0030097)|mitotic cell cycle arrest (GO:0071850)|negative regulation of fibroblast apoptotic process (GO:2000270)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						ACCCTTCAGAGTCTGATTTTT	0.373																																							uc001ozt.2		NA																	0				ovary(2)	2						c.(2143-2145)GAG>GAC		nitric oxide-inducible gene protein							76.0	79.0	78.0					11																	82644525		2203	4300	6503	SO:0001583	missense	220042				apoptosis|cell cycle arrest	cytoplasm|nucleus		g.chr11:82644525G>C																												ENST00000533655.1:c.2145G>C	11.37:g.82644525G>C	ENSP00000435421:p.Glu715Asp					C11orf82_uc010rsr.1_Missense_Mutation_p.E414D|C11orf82_uc010rss.1_Missense_Mutation_p.E414D|C11orf82_uc009yvd.2_Intron	p.E715D	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN			6	2389	+			715					Q96LK6|Q9H856	Missense_Mutation	SNP	ENST00000533655.1	37	c.2145G>C	CCDS8263.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.623534	0.46840	.	.	ENSG00000165490	ENST00000430323;ENST00000533655;ENST00000329143	T;T;T	0.18960	2.45;2.45;2.18	4.94	2.8	0.32819	.	0.075251	0.47852	D	0.000215	T	0.16811	0.0404	L	0.57536	1.79	0.09310	N	1	B	0.20887	0.049	B	0.19666	0.026	T	0.20538	-1.0272	9	.	.	.	-4.5175	3.0372	0.06126	0.2589:0.0:0.1691:0.572	.	715	Q8IXT1	NOXIN_HUMAN	D	715;715;414	ENSP00000414687:E715D;ENSP00000435421:E715D;ENSP00000329930:E414D	.	E	+	3	2	C11orf82	82322173	0.000000	0.05858	0.618000	0.29105	0.978000	0.69477	0.076000	0.14712	0.591000	0.29711	0.650000	0.86243	GAG		0.373	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391936.1			12	60	0	0	0	0.000978	0	12	60				
DDIAS	220042	broad.mit.edu	37	11	82644895	82644895	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:82644895G>T	ENST00000533655.1	+	6	2727	c.2515G>T	c.(2515-2517)Gta>Tta	p.V839L	C11orf82_ENST00000329143.3_Missense_Mutation_p.V538L|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000430323.2_Missense_Mutation_p.V839L|C11orf82_ENST00000525361.1_Intron	NM_145018.3	NP_659455.3	Q8IXT1	DDIAS_HUMAN		839					apoptotic process (GO:0006915)|cellular response to cytokine stimulus (GO:0071345)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to hydroperoxide (GO:0071447)|cellular response to UV (GO:0034644)|hemopoiesis (GO:0030097)|mitotic cell cycle arrest (GO:0071850)|negative regulation of fibroblast apoptotic process (GO:2000270)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						AAGCCCTATTGTATCTGGTGT	0.398																																							uc001ozt.2		NA																	0				ovary(2)	2						c.(2515-2517)GTA>TTA		nitric oxide-inducible gene protein							47.0	47.0	47.0					11																	82644895		2203	4300	6503	SO:0001583	missense	220042				apoptosis|cell cycle arrest	cytoplasm|nucleus		g.chr11:82644895G>T																												ENST00000533655.1:c.2515G>T	11.37:g.82644895G>T	ENSP00000435421:p.Val839Leu					C11orf82_uc010rsr.1_Missense_Mutation_p.V538L|C11orf82_uc010rss.1_Missense_Mutation_p.V538L|C11orf82_uc009yvd.2_Intron	p.V839L	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN			6	2759	+			839					Q96LK6|Q9H856	Missense_Mutation	SNP	ENST00000533655.1	37	c.2515G>T	CCDS8263.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.888681	0.33348	.	.	ENSG00000165490	ENST00000430323;ENST00000533655;ENST00000329143	T;T;T	0.21191	2.3;2.3;2.02	5.83	-4.2	0.03823	.	1.694710	0.02854	N	0.129403	T	0.13114	0.0318	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.18023	-1.0350	9	.	.	.	.	3.9913	0.09538	0.2682:0.1344:0.4667:0.1307	.	839	Q8IXT1	NOXIN_HUMAN	L	839;839;538	ENSP00000414687:V839L;ENSP00000435421:V839L;ENSP00000329930:V538L	.	V	+	1	0	C11orf82	82322543	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.068000	0.11561	-0.710000	0.05001	-0.438000	0.05819	GTA		0.398	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391936.1			3	22	1	0	0.004672	0.004672	0.00493414	3	22				
CREBZF	58487	broad.mit.edu	37	11	85375702	85375702	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:85375702A>T	ENST00000527447.1	-	1	444	c.218T>A	c.(217-219)gTg>gAg	p.V73E	CREBZF_ENST00000531515.1_Intron|CREBZF_ENST00000398294.2_5'Flank|CREBZF_ENST00000534224.1_Intron	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	73					negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				GCGCACGGCCACGCCGCCGCG	0.711																																					NSCLC(172;674 2044 9050 18334 41735)	NSCLC(172;674 2044 9050 18334 41735)	uc001pas.2		NA																	0				ovary(1)	1						c.(217-219)GTG>GAG		HCF-binding transcription factor Zhangfei							29.0	35.0	33.0					11																	85375702		1843	4070	5913	SO:0001583	missense	58487				negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:85375702A>T	AF039942	CCDS41697.1	11q14.1	2013-01-10			ENSG00000137504	ENSG00000137504		"""basic leucine zipper proteins"""	24905	protein-coding gene	gene with protein product	"""Zhangfei"""	606444				10871379	Standard	NM_001039618		Approved	ZF	uc001pas.2	Q9NS37	OTTHUMG00000133648	ENST00000527447.1:c.218T>A	11.37:g.85375702A>T	ENSP00000433459:p.Val73Glu					CREBZF_uc010rtc.1_RNA|CREBZF_uc010rtd.1_RNA	p.V73E	NM_001039618	NP_001034707	Q9NS37	ZHANG_HUMAN			1	481	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	73					B2R8Q9|Q0P5U9|Q52LT3	Missense_Mutation	SNP	ENST00000527447.1	37	c.218T>A	CCDS41697.1	.	.	.	.	.	.	.	.	.	.	A	12.86	2.065599	0.36470	.	.	ENSG00000137504	ENST00000527447	.	.	.	4.02	-5.37	0.02681	.	0.677597	0.10636	U	0.651634	T	0.23014	0.0556	N	0.14661	0.345	0.54753	D	0.999987	B	0.02656	0.0	B	0.01281	0.0	T	0.22068	-1.0227	8	.	.	.	-23.1786	1.3022	0.02081	0.1852:0.383:0.1807:0.2512	.	73	Q9NS37	ZHANG_HUMAN	E	73	.	.	V	-	2	0	CREBZF	85053350	0.892000	0.30473	0.015000	0.15790	0.614000	0.37383	0.006000	0.13152	-0.545000	0.06224	0.459000	0.35465	GTG		0.711	CREBZF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390191.2	NM_001039618		11	41	0	0	0	0.000978	0	11	41				
CCDC89	220388	broad.mit.edu	37	11	85396236	85396236	+	Missense_Mutation	SNP	C	C	A	rs570614928		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:85396236C>A	ENST00000316398.3	-	1	1084	c.938G>T	c.(937-939)cGg>cTg	p.R313L	CREBZF_ENST00000531515.1_5'Flank|CREBZF_ENST00000534224.1_5'Flank	NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	313						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				TTGCTCAAACCGCTCCAGCGC	0.512																																							uc001pau.1		NA																	0					0						c.(937-939)CGG>CTG		coiled-coil domain containing 89							144.0	112.0	123.0					11																	85396236		2203	4299	6502	SO:0001583	missense	220388					cytoplasm|nucleus		g.chr11:85396236C>A	AK095478	CCDS8270.1	11q14.1	2006-03-16			ENSG00000179071	ENSG00000179071			26762	protein-coding gene	gene with protein product						12477932	Standard	NM_152723		Approved	FLJ38159	uc001pau.1	Q8N998	OTTHUMG00000166976	ENST00000316398.3:c.938G>T	11.37:g.85396236C>A	ENSP00000320649:p.Arg313Leu						p.R313L	NM_152723	NP_689936	Q8N998	CCD89_HUMAN			1	1085	-		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)	313			Potential.			Missense_Mutation	SNP	ENST00000316398.3	37	c.938G>T	CCDS8270.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.474393	0.63737	.	.	ENSG00000179071	ENST00000316398	.	.	.	6.06	6.06	0.98353	.	0.054965	0.64402	D	0.000002	T	0.77811	0.4186	M	0.74881	2.28	0.47476	D	0.999437	D	0.76494	0.999	D	0.67900	0.954	T	0.77120	-0.2705	8	.	.	.	-19.8357	15.7203	0.77705	0.0:0.9332:0.0:0.0668	.	313	Q8N998	CCD89_HUMAN	L	313	.	.	R	-	2	0	CCDC89	85073884	0.987000	0.35691	0.982000	0.44146	0.617000	0.37484	2.696000	0.47052	2.882000	0.98803	0.655000	0.94253	CGG		0.512	CCDC89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392182.1	NM_152723		20	33	1	0	4.35082e-09	0.010504	5.82853e-09	20	33				
GRM5	2915	broad.mit.edu	37	11	88330451	88330451	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:88330451G>C	ENST00000305447.4	-	5	1613	c.1464C>G	c.(1462-1464)gaC>gaG	p.D488E	GRM5_ENST00000455756.2_Missense_Mutation_p.D488E|GRM5_ENST00000305432.5_Missense_Mutation_p.D488E|GRM5_ENST00000393297.1_Missense_Mutation_p.D488E|GRM5_ENST00000418177.2_Missense_Mutation_p.D488E	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	488					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	ATTCTCCATTGTCCCAACTTC	0.353																																							uc001pcq.2		NA																	0				central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9						c.(1462-1464)GAC>GAG		glutamate receptor, metabotropic 5 isoform a	Acamprosate(DB00659)						185.0	154.0	165.0					11																	88330451		2201	4299	6500	SO:0001583	missense	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88330451G>C	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.1464C>G	11.37:g.88330451G>C	ENSP00000306138:p.Asp488Glu					GRM5_uc009yvm.2_Missense_Mutation_p.D488E	p.D488E	NM_001143831	NP_001137303	P41594	GRM5_HUMAN			5	1664	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	488			Extracellular (Potential).		Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.1464C>G	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.872385	0.51695	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.86562	-2.14;-2.14;-2.14;-2.14;-2.14	5.4	3.53	0.40419	.	0.000000	0.85682	D	0.000000	D	0.90710	0.7085	M	0.62723	1.935	0.39553	D	0.969009	D;D	0.67145	0.996;0.984	D;D	0.77557	0.99;0.967	D	0.89286	0.3615	9	.	.	.	.	9.547	0.39286	0.2091:0.0:0.7909:0.0	.	488;488	P41594-2;P41594	.;GRM5_HUMAN	E	488	ENSP00000402912:D488E;ENSP00000405690:D488E;ENSP00000305905:D488E;ENSP00000306138:D488E;ENSP00000376975:D488E	.	D	-	3	2	GRM5	87970099	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.198000	0.42705	0.669000	0.31146	0.650000	0.86243	GAC		0.353	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		8	20	0	0	0	0.006214	0	8	20				
FAT3	120114	broad.mit.edu	37	11	92533858	92533858	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:92533858G>T	ENST00000298047.6	+	9	7696	c.7679G>T	c.(7678-7680)cGg>cTg	p.R2560L	FAT3_ENST00000409404.2_Missense_Mutation_p.R2560L|FAT3_ENST00000525166.1_Missense_Mutation_p.R2410L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2560	Cadherin 23. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGGCTAGACCGGGAAAACCCT	0.473										TCGA Ovarian(4;0.039)																													uc001pdj.3		NA																	0				ovary(4)|pancreas(1)	5						c.(7678-7680)CGG>CTG		FAT tumor suppressor homolog 3							52.0	50.0	50.0					11																	92533858		1951	4150	6101	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92533858G>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.7679G>T	11.37:g.92533858G>T	ENSP00000298047:p.Arg2560Leu	TCGA Ovarian(4;0.039)					p.R2560L	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			9	7696	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2560			Cadherin 23.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.7679G>T		.	.	.	.	.	.	.	.	.	.	G	25.0	4.595105	0.86953	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.59638	0.25;0.25;0.25	6.17	6.17	0.99709	.	.	.	.	.	D	0.85039	0.5606	H	0.96547	3.84	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87360	0.2343	9	0.54805	T	0.06	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	2560	Q8TDW7-3	.	L	2560;2560;2410	ENSP00000298047:R2560L;ENSP00000387040:R2560L;ENSP00000432586:R2410L	ENSP00000298047:R2560L	R	+	2	0	FAT3	92173506	1.000000	0.71417	0.962000	0.40283	0.842000	0.47809	9.787000	0.99055	2.941000	0.99782	0.655000	0.94253	CGG		0.473	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		4	22	1	0	5.9392e-07	0.001168	7.35353e-07	4	22				
FAT3	120114	broad.mit.edu	37	11	92590415	92590415	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:92590415G>T	ENST00000298047.6	+	19	11418	c.11401G>T	c.(11401-11403)Gag>Tag	p.E3801*	FAT3_ENST00000533797.1_Nonsense_Mutation_p.E136*|FAT3_ENST00000409404.2_Nonsense_Mutation_p.E3801*|FAT3_ENST00000525166.1_Nonsense_Mutation_p.E3651*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3801	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCCTTGTGTGGAGAAGCCGTG	0.557										TCGA Ovarian(4;0.039)																													uc001pdj.3		NA																	0				ovary(4)|pancreas(1)	5						c.(11401-11403)GAG>TAG		FAT tumor suppressor homolog 3							109.0	114.0	113.0					11																	92590415		2015	4186	6201	SO:0001587	stop_gained	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92590415G>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.11401G>T	11.37:g.92590415G>T	ENSP00000298047:p.Glu3801*	TCGA Ovarian(4;0.039)				FAT3_uc001pdi.3_Nonsense_Mutation_p.E241*	p.E3801*	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			19	11418	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3801			EGF-like 1.|Extracellular (Potential).		B5MDB0|Q96AU6	Nonsense_Mutation	SNP	ENST00000298047.6	37	c.11401G>T		.	.	.	.	.	.	.	.	.	.	G	37	6.257534	0.97417	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	13.5695	0.61838	0.0706:0.0:0.9294:0.0	.	.	.	.	X	3801;3801;3651;136	.	ENSP00000298047:E3801X	E	+	1	0	FAT3	92230063	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	6.360000	0.73064	2.824000	0.97209	0.655000	0.94253	GAG		0.557	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		20	31	1	0	8.10497e-08	0.010504	1.03987e-07	20	31				
CEP57	9702	broad.mit.edu	37	11	95555060	95555060	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:95555060G>C	ENST00000325542.5	+	7	963	c.725G>C	c.(724-726)aGa>aCa	p.R242T	CEP57_ENST00000537677.1_Missense_Mutation_p.R215T|CEP57_ENST00000538658.1_Missense_Mutation_p.R242T|CEP57_ENST00000325486.5_Missense_Mutation_p.R242T|CEP57_ENST00000541150.1_Missense_Mutation_p.R233T	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	242					fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|mitotic cell cycle (GO:0000278)|protein homooligomerization (GO:0051260)|protein import into nucleus, translocation (GO:0000060)|spermatid development (GO:0007286)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	fibroblast growth factor binding (GO:0017134)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GAAACAAATAGACTTATCTTT	0.363									Mosaic Variegated Aneuploidy Syndrome																														uc001pfp.1		NA																	0				ovary(1)	1						c.(724-726)AGA>ACA		translokin							73.0	72.0	72.0					11																	95555060		2201	4298	6499	SO:0001583	missense	9702	Mosaic_Variegated_Aneuploidy_Syndrome	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development	centrosome|cytosol|Golgi apparatus|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity	g.chr11:95555060G>C	D42054	CCDS8304.1, CCDS58166.1, CCDS58167.1	11q21	2014-09-17			ENSG00000166037	ENSG00000166037			30794	protein-coding gene	gene with protein product		607951				7788527	Standard	NM_014679		Approved	Translokin, TSP57, KIAA0092	uc001pfp.2	Q86XR8	OTTHUMG00000167740	ENST00000325542.5:c.725G>C	11.37:g.95555060G>C	ENSP00000317902:p.Arg242Thr					CEP57_uc001pfo.1_Missense_Mutation_p.R242T|CEP57_uc010ruh.1_Missense_Mutation_p.R233T|CEP57_uc010rui.1_Missense_Mutation_p.R242T|CEP57_uc009ywn.1_Missense_Mutation_p.R90T|CEP57_uc001pfq.1_Missense_Mutation_p.R242T|CEP57_uc001pfr.1_Missense_Mutation_p.R90T	p.R242T	NM_014679	NP_055494	Q86XR8	CEP57_HUMAN			7	946	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	242			Potential.		A0PJH1|A8K5D0|B4DDP5|F5H5F7|Q14704|Q5JB46|Q8IXP0|Q9BVF9	Missense_Mutation	SNP	ENST00000325542.5	37	c.725G>C	CCDS8304.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.77|14.77	2.634380|2.634380	0.47049|0.47049	.|.	.|.	ENSG00000166037|ENSG00000166037	ENST00000537677;ENST00000325542;ENST00000325486;ENST00000538658;ENST00000541150|ENST00000535224	T;T;T;T;T|.	0.51325|.	0.71;0.71;0.71;0.71;0.71|.	5.96|5.96	3.13|3.13	0.36017|0.36017	.|.	0.198977|.	0.44902|.	D|.	0.000401|.	T|.	0.68879|.	0.3049|.	M|M	0.73217|0.73217	2.22|2.22	0.46203|0.46203	D|D	0.99892|0.99892	P;D;P;P|.	0.61697|.	0.675;0.99;0.722;0.787|.	B;P;P;B|.	0.56434|.	0.372;0.798;0.506;0.372|.	T|.	0.65529|.	-0.6146|.	10|.	0.87932|.	D|.	0|.	-0.0198|-0.0198	10.5264|10.5264	0.44952|0.44952	0.2022:0.0:0.7978:0.0|0.2022:0.0:0.7978:0.0	.|.	233;242;242;242|.	F5H5F7;Q86XR8-2;Q86XR8;Q86XR8-3|.	.;.;CEP57_HUMAN;.|.	T|Y	215;242;242;242;233|57	ENSP00000441392:R215T;ENSP00000317902:R242T;ENSP00000317487:R242T;ENSP00000445706:R242T;ENSP00000443436:R233T|.	ENSP00000317487:R242T|.	R|X	+|+	2|3	0|2	CEP57|CEP57	95194708|95194708	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.768000|0.768000	0.43524|0.43524	2.286000|2.286000	0.43496|0.43496	0.438000|0.438000	0.26450|0.26450	-0.145000|-0.145000	0.13849|0.13849	AGA|TAG		0.363	CEP57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395983.1	NM_014679		9	13	0	0	0	0.008291	0	9	13				
MMP27	64066	broad.mit.edu	37	11	102562575	102562575	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:102562575C>G	ENST00000260229.4	-	10	1555	c.1464G>C	c.(1462-1464)aaG>aaC	p.K488N		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	488	Required for retention in the endoplasmic reticulum. {ECO:0000269|PubMed:24548619}.				collagen catabolic process (GO:0030574)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	Marimastat(DB00786)	GATACAATATCTTTATGCCTC	0.299																																							uc001phd.1		NA																	0				ovary(2)|skin(1)	3						c.(1462-1464)AAG>AAC		matrix metalloproteinase 27 precursor							123.0	122.0	122.0					11																	102562575		2203	4298	6501	SO:0001583	missense	64066				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102562575C>G	AF195192	CCDS8319.1	11q24	2008-07-18	2005-08-08		ENSG00000137675	ENSG00000137675			14250	protein-coding gene	gene with protein product	"""matrix metalloprotease 27"""		"""matrix metalloproteinase 27"""			10419448	Standard	NM_022122		Approved		uc001phd.1	Q9H306	OTTHUMG00000168099	ENST00000260229.4:c.1464G>C	11.37:g.102562575C>G	ENSP00000260229:p.Lys488Asn						p.K488N	NM_022122	NP_071405	Q9H306	MMP27_HUMAN	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	10	1487	-	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	488					Q6UWK6	Missense_Mutation	SNP	ENST00000260229.4	37	c.1464G>C	CCDS8319.1	.	.	.	.	.	.	.	.	.	.	C	11.16	1.556717	0.27827	.	.	ENSG00000137675	ENST00000260229	T	0.13657	2.57	5.71	-2.31	0.06765	.	1.480990	0.04208	N	0.331149	T	0.06188	0.0160	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.12156	0.007	T	0.35748	-0.9776	10	0.48119	T	0.1	.	0.8973	0.01266	0.2313:0.3094:0.1137:0.3457	.	488	Q9H306	MMP27_HUMAN	N	488	ENSP00000260229:K488N	ENSP00000260229:K488N	K	-	3	2	MMP27	102067785	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-0.953000	0.03877	-0.132000	0.11557	0.467000	0.42956	AAG		0.299	MMP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398128.1	NM_022122		15	25	0	0	0	0.004007	0	15	25				
MMP3	4314	broad.mit.edu	37	11	102709892	102709892	+	Missense_Mutation	SNP	C	C	A	rs376007624		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:102709892C>A	ENST00000299855.5	-	7	1274	c.1018G>T	c.(1018-1020)Gtg>Ttg	p.V340L	WTAPP1_ENST00000525739.2_RNA	NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	340					cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|positive regulation of oxidative stress-induced cell death (GO:1903209)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.V340M(1)		endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)	GCGGCATCCACGCCTGAAGGA	0.378																																							uc001phj.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)|kidney(1)	2						c.(1018-1020)GTG>TTG		matrix metalloproteinase 3 preproprotein	Marimastat(DB00786)|Simvastatin(DB00641)						91.0	97.0	95.0					11																	102709892		2203	4299	6502	SO:0001583	missense	4314				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102709892C>A	X05232	CCDS8323.1	11q22.3	2012-10-02	2005-08-08		ENSG00000149968	ENSG00000149968	3.4.24.17		7173	protein-coding gene	gene with protein product		185250	"""matrix metalloproteinase 3 (stromelysin 1, progelatinase)"""	STMY1, STMY			Standard	NM_002422		Approved		uc001phj.1	P08254	OTTHUMG00000048254	ENST00000299855.5:c.1018G>T	11.37:g.102709892C>A	ENSP00000299855:p.Val340Leu						p.V340L	NM_002422	NP_002413	P08254	MMP3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0142)	7	1083	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	340			Hemopexin-like 2.		B2R8B8|Q3B7S0|Q6GRF8	Missense_Mutation	SNP	ENST00000299855.5	37	c.1018G>T	CCDS8323.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.298862	0.00243	.	.	ENSG00000149968	ENST00000299855	T	0.19105	2.17	5.58	-11.2	0.00127	Hemopexin/matrixin, conserved site (1);Hemopexin/matrixin (2);	2.339700	0.02390	N	0.079658	T	0.07188	0.0182	N	0.04787	-0.16	0.09310	N	0.999999	B	0.02656	0.0	B	0.12156	0.007	T	0.13098	-1.0522	10	0.10377	T	0.69	.	5.1241	0.14875	0.1132:0.1911:0.1416:0.5541	.	340	P08254	MMP3_HUMAN	L	340	ENSP00000299855:V340L	ENSP00000299855:V340L	V	-	1	0	MMP3	102215102	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-4.545000	0.00218	-5.084000	0.00022	-2.388000	0.00228	GTG		0.378	MMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109758.2	NM_002422		13	49	1	0	4.75885e-15	0.00499	7.35593e-15	13	49				
MMP3	4314	broad.mit.edu	37	11	102712964	102712964	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:102712964G>T	ENST00000299855.5	-	4	802	c.546C>A	c.(544-546)gcC>gcA	p.A182A		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	182					cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|positive regulation of oxidative stress-induced cell death (GO:1903209)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)	CATAGGCATGGGCCAAAACAT	0.418																																							uc001phj.1		NA																	0				lung(1)|kidney(1)	2						c.(544-546)GCC>GCA		matrix metalloproteinase 3 preproprotein	Marimastat(DB00786)|Simvastatin(DB00641)						122.0	115.0	117.0					11																	102712964		2203	4299	6502	SO:0001819	synonymous_variant	4314				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102712964G>T	X05232	CCDS8323.1	11q22.3	2012-10-02	2005-08-08		ENSG00000149968	ENSG00000149968	3.4.24.17		7173	protein-coding gene	gene with protein product		185250	"""matrix metalloproteinase 3 (stromelysin 1, progelatinase)"""	STMY1, STMY			Standard	NM_002422		Approved		uc001phj.1	P08254	OTTHUMG00000048254	ENST00000299855.5:c.546C>A	11.37:g.102712964G>T							p.A182A	NM_002422	NP_002413	P08254	MMP3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0142)	4	611	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	182					B2R8B8|Q3B7S0|Q6GRF8	Silent	SNP	ENST00000299855.5	37	c.546C>A	CCDS8323.1																																																																																				0.418	MMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109758.2	NM_002422		13	29	1	0	0.00316338	0.003163	0.003372	13	29				
GRIA4	2893	broad.mit.edu	37	11	105850454	105850454	+	Silent	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:105850454G>C	ENST00000530497.1	+	16	2697	c.2697G>C	c.(2695-2697)tcG>tcC	p.S899S	GRIA4_ENST00000282499.5_Silent_p.S899S|GRIA4_ENST00000393127.2_3'UTR|GRIA4_ENST00000533094.1_3'UTR|GRIA4_ENST00000525187.1_3'UTR			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	899					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		TCATTGCATCGGACCTACCAT	0.502																																							uc001pix.2		NA																	0				ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.(2695-2697)TCG>TCC		glutamate receptor, ionotrophic, AMPA 4 isoform	L-Glutamic Acid(DB00142)						58.0	49.0	52.0					11																	105850454		2201	4299	6500	SO:0001819	synonymous_variant	2893				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105850454G>C	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.2697G>C	11.37:g.105850454G>C						GRIA4_uc001piw.2_3'UTR|GRIA4_uc009yxl.1_RNA	p.S899S	NM_000829	NP_000820	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	17	3143	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	899			Cytoplasmic (Potential).		Q86XE8	Silent	SNP	ENST00000530497.1	37	c.2697G>C	CCDS8333.1																																																																																				0.502	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			5	14	0	0	0	0.001168	0	5	14				
EXPH5	23086	broad.mit.edu	37	11	108382214	108382214	+	Silent	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:108382214T>A	ENST00000265843.4	-	6	4130	c.4020A>T	c.(4018-4020)ctA>ctT	p.L1340L	EXPH5_ENST00000525344.1_Silent_p.L1333L|EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000443411.1_Silent_p.L1152L|EXPH5_ENST00000428840.1_Silent_p.L1264L	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1340					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		ATGTAGGAGCTAGGGGCCCCC	0.413																																							uc001pkk.2		NA																	0				skin(3)|ovary(2)	5						c.(4018-4020)CTA>CTT		exophilin 5 isoform a							47.0	52.0	50.0					11																	108382214		2198	4296	6494	SO:0001819	synonymous_variant	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108382214T>A		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.4020A>T	11.37:g.108382214T>A						EXPH5_uc010rvy.1_Silent_p.L1152L|EXPH5_uc010rvz.1_Silent_p.L1184L|EXPH5_uc010rwa.1_Silent_p.L1264L	p.L1340L	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	4131	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	1340					Q2KHM1|Q9Y4D6	Silent	SNP	ENST00000265843.4	37	c.4020A>T	CCDS8341.1																																																																																				0.413	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		12	17	0	0	0	0.004007	0	12	17				
ZW10	9183	broad.mit.edu	37	11	113644334	113644334	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:113644334C>A	ENST00000200135.3	-	1	199	c.55G>T	c.(55-57)Gat>Tat	p.D19Y	RP11-667M19.2_ENST00000543486.1_RNA	NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	19	Interaction with RINT1.|Interaction with ZWINT.				ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic metaphase plate congression (GO:0007080)|mitotic sister chromatid segregation (GO:0000070)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|protein transport (GO:0015031)|regulation of exit from mitosis (GO:0007096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|nucleus (GO:0005634)|spindle pole (GO:0000922)	centromeric DNA binding (GO:0019237)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		GTCCCCAGATCCTCCTTTTCC	0.632																																							uc001poe.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(55-57)GAT>TAT		centromere/kinetochore protein zw10							61.0	65.0	64.0					11																	113644334		2201	4296	6497	SO:0001583	missense	9183				cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding	g.chr11:113644334C>A	U54996	CCDS8363.1	11q23	2013-01-17	2012-12-13		ENSG00000086827	ENSG00000086827			13194	protein-coding gene	gene with protein product		603954	"""ZW10 (Drosophila) homolog, centromere/kinetochore protein"", ""ZW10, kinetochore associated, homolog (Drosophila)"""			9298984	Standard	NM_004724		Approved	KNTC1AP	uc001poe.3	O43264	OTTHUMG00000168190	ENST00000200135.3:c.55G>T	11.37:g.113644334C>A	ENSP00000200135:p.Asp19Tyr					ZW10_uc009yyv.2_RNA	p.D19Y	NM_004724	NP_004715	O43264	ZW10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)	1	92	-		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)	19			Interaction with RINT1.|Interaction with ZWINT.|Potential.		A1A528	Missense_Mutation	SNP	ENST00000200135.3	37	c.55G>T	CCDS8363.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.955675	0.92726	.	.	ENSG00000086827	ENST00000200135	T	0.57907	0.37	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.71921	0.3397	M	0.72894	2.215	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	T	0.74084	-0.3779	10	0.66056	D	0.02	-19.1914	18.0649	0.89388	0.0:1.0:0.0:0.0	.	19	O43264	ZW10_HUMAN	Y	19	ENSP00000200135:D19Y	ENSP00000200135:D19Y	D	-	1	0	ZW10	113149544	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.840000	0.69402	2.601000	0.87937	0.491000	0.48974	GAT		0.632	ZW10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398700.1	NM_004724		10	59	1	0	6.42651e-13	0.000978	9.55622e-13	10	59				
BUD13	84811	broad.mit.edu	37	11	116628652	116628652	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:116628652C>A	ENST00000260210.4	-	8	1537	c.1514G>T	c.(1513-1515)cGg>cTg	p.R505L	BUD13_ENST00000375445.3_Missense_Mutation_p.R371L	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	505					mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	nucleus (GO:0005634)|RES complex (GO:0070274)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		TTGCTGTTGCCGGCTCTGGGC	0.468																																							uc001ppn.2		NA																	0				large_intestine(1)|pancreas(1)	2						c.(1513-1515)CGG>CTG		BUD13 homolog isoform 1							82.0	84.0	83.0					11																	116628652		2201	4296	6497	SO:0001583	missense	84811							g.chr11:116628652C>A	BC006350	CCDS8374.1, CCDS53712.1	11q23.3	2012-06-07	2007-01-12		ENSG00000137656	ENSG00000137656			28199	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 71"""		"""BUD13 homolog (yeast)"""			12477932	Standard	NM_032725		Approved	MGC13125, fSAP71, Cwc26	uc001ppn.3	Q9BRD0	OTTHUMG00000045136	ENST00000260210.4:c.1514G>T	11.37:g.116628652C>A	ENSP00000260210:p.Arg505Leu					BUD13_uc001ppo.2_Missense_Mutation_p.R371L	p.R505L	NM_032725	NP_116114	Q9BRD0	BUD13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)	8	1548	-	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)	505			Potential.		A8K0S0|Q96LS7	Missense_Mutation	SNP	ENST00000260210.4	37	c.1514G>T	CCDS8374.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.542942	0.86022	.	.	ENSG00000137656	ENST00000375445;ENST00000260210	T;T	0.21031	2.08;2.03	6.17	5.25	0.73442	.	0.240810	0.45606	D	0.000357	T	0.39733	0.1089	L	0.58428	1.81	0.39599	D	0.969707	D;D	0.76494	0.973;0.999	P;D	0.71656	0.88;0.974	T	0.35176	-0.9799	10	0.87932	D	0	-7.2405	10.229	0.43243	0.1371:0.7961:0.0:0.0668	.	371;505	Q9BRD0-2;Q9BRD0	.;BUD13_HUMAN	L	371;505	ENSP00000364594:R371L;ENSP00000260210:R505L	ENSP00000260210:R505L	R	-	2	0	BUD13	116133862	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.334000	0.59291	1.602000	0.50124	0.655000	0.94253	CGG		0.468	BUD13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000104864.1	NM_032725		16	25	1	0	2.35188e-11	0.006122	3.34985e-11	16	25				
CEP164	22897	broad.mit.edu	37	11	117242165	117242165	+	Missense_Mutation	SNP	A	A	G	rs200122409		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:117242165A>G	ENST00000278935.3	+	9	1282	c.1135A>G	c.(1135-1137)Agt>Ggt	p.S379G	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	379					cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		GGAAGAGGGCAGTTCAGACGC	0.582																																							uc001prc.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1135-1137)AGT>GGT		centrosomal protein 164kDa		A	GLY/SER	0,4402		0,0,2201	73.0	67.0	69.0		1135	-3.3	0.0	11		69	1,8591	1.2+/-3.3	0,1,4295	yes	missense	CEP164	NM_014956.4	56	0,1,6496	GG,GA,AA		0.0116,0.0,0.0077	benign	379/1461	117242165	1,12993	2201	4296	6497	SO:0001583	missense	22897				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		g.chr11:117242165A>G	AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.1135A>G	11.37:g.117242165A>G	ENSP00000278935:p.Ser379Gly					CEP164_uc001prb.2_Missense_Mutation_p.S379G|CEP164_uc010rxk.1_Missense_Mutation_p.S353G|CEP164_uc001prf.2_RNA|CEP164_uc009yzp.1_RNA	p.S379G	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)	9	1282	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	379					Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	ENST00000278935.3	37	c.1135A>G	CCDS31683.1	.	.	.	.	.	.	.	.	.	.	A	5.622	0.299384	0.10622	0.0	1.16E-4	ENSG00000110274	ENST00000278935;ENST00000529538;ENST00000375253	T	0.58210	0.35	5.19	-3.35	0.04928	.	1.357380	0.04773	N	0.428471	T	0.27663	0.0680	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.09840	-1.0656	10	0.23302	T	0.38	1.8811	5.1818	0.15163	0.4543:0.2662:0.2795:0.0	.	353;379;379	E9PI34;Q9UPV0;Q9UPV0-2	.;CE164_HUMAN;.	G	379;353;306	ENSP00000278935:S379G	ENSP00000278935:S379G	S	+	1	0	CEP164	116747375	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	-0.567000	0.05916	-0.793000	0.04475	0.528000	0.53228	AGT		0.582	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		15	32	0	0	0	0.006122	0	15	32				
DSCAML1	57453	broad.mit.edu	37	11	117389215	117389215	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:117389215G>T	ENST00000321322.6	-	7	1657	c.1656C>A	c.(1654-1656)ggC>ggA	p.G552G	DSCAML1_ENST00000527706.1_Silent_p.G282G	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	492	Ig-like C2-type 6.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		ATTCAGCACTGCCCACCAAGT	0.532																																							uc001prh.1		NA																	0				ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(1654-1656)GGC>GGA		Down syndrome cell adhesion molecule like 1							108.0	108.0	108.0					11																	117389215		2201	4296	6497	SO:0001819	synonymous_variant	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117389215G>T		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.1656C>A	11.37:g.117389215G>T						DSCAML1_uc001pri.1_Silent_p.G356G	p.G552G	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	7	1658	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	492			Extracellular (Potential).|Ig-like C2-type 5.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	ENST00000321322.6	37	c.1656C>A	CCDS8384.1																																																																																				0.532	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		16	84	1	0	4.96729e-08	0.008871	6.42292e-08	16	84				
AMICA1	120425	broad.mit.edu	37	11	118083145	118083145	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:118083145G>C	ENST00000356289.5	-	3	348	c.175C>G	c.(175-177)Ctg>Gtg	p.L59V	AMICA1_ENST00000292067.7_Missense_Mutation_p.L49V|AMICA1_ENST00000533261.1_Missense_Mutation_p.L59V|AMICA1_ENST00000526620.1_Missense_Mutation_p.L20V	NM_001098526.1	NP_001091996.1	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	59	Ig-like V-type 1.				blood coagulation (GO:0007596)|gamma-delta T cell activation (GO:0046629)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte migration (GO:0050900)|monocyte extravasation (GO:0035696)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CCTGGTGACAGAGTCCAGTCT	0.502																																							uc001psk.2		NA																	0				ovary(1)	1						c.(175-177)CTG>GTG		adhesion molecule, interacts with CXADR antigen							122.0	110.0	114.0					11																	118083145		2200	4296	6496	SO:0001583	missense	120425				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane		g.chr11:118083145G>C	AY138965, AY358362	CCDS8391.1, CCDS41723.1, CCDS66240.1	11q23.3	2013-01-11				ENSG00000160593		"""Immunoglobulin superfamily / V-set domain containing"""	19084	protein-coding gene	gene with protein product		609770				12975309	Standard	NM_001098526		Approved	Gm638, AMICA	uc001psk.2	Q86YT9		ENST00000356289.5:c.175C>G	11.37:g.118083145G>C	ENSP00000348635:p.Leu59Val					AMICA1_uc001psh.2_Missense_Mutation_p.L20V|AMICA1_uc009yzw.1_RNA|AMICA1_uc001psi.2_Missense_Mutation_p.L49V|AMICA1_uc001psj.2_Missense_Mutation_p.L59V|AMICA1_uc010rxw.1_Missense_Mutation_p.L20V|AMICA1_uc010rxx.1_Missense_Mutation_p.L59V|AMICA1_uc001psl.1_Missense_Mutation_p.L15V	p.L59V	NM_001098526	NP_001091996	Q86YT9	JAML1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	3	349	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	59			Ig-like V-type 1.|Extracellular (Potential).		B0YIV1|B0YIV2|Q496M1|Q5DTC6|Q7Z499|Q8N9I7|Q8NF70	Missense_Mutation	SNP	ENST00000356289.5	37	c.175C>G	CCDS41723.1	.	.	.	.	.	.	.	.	.	.	G	1.795	-0.478599	0.04414	.	.	ENSG00000160593	ENST00000356289;ENST00000292067;ENST00000533261;ENST00000526620;ENST00000537867;ENST00000524477;ENST00000525565	T;T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17;-0.17	5.25	-0.884	0.10597	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.037060	0.07656	N	0.932819	T	0.47764	0.1463	L	0.34521	1.04	0.09310	N	1	B;B;B;B;B	0.21381	0.055;0.048;0.055;0.055;0.045	B;B;B;B;B	0.29077	0.037;0.098;0.037;0.037;0.022	T	0.37244	-0.9714	10	0.28530	T	0.3	-3.2596	4.8482	0.13524	0.565:0.1587:0.2763:0.0	.	59;20;59;59;49	B4DVI6;E9PKK2;Q86YT9;E9PR26;Q86YT9-2	.;.;JAML1_HUMAN;.;.	V	59;49;59;20;20;20;59	ENSP00000348635:L59V;ENSP00000292067:L49V;ENSP00000436117:L59V;ENSP00000431218:L20V;ENSP00000432769:L20V;ENSP00000431791:L59V	ENSP00000292067:L49V	L	-	1	2	AMICA1	117588355	0.011000	0.17503	0.000000	0.03702	0.020000	0.10135	0.038000	0.13862	-0.302000	0.08869	0.655000	0.94253	CTG		0.502	AMICA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392105.2	NM_153206		22	61	0	0	0	0.00632	0	22	61				
TRIM29	23650	broad.mit.edu	37	11	120008148	120008148	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:120008148G>A	ENST00000341846.5	-	1	1013	c.592C>T	c.(592-594)Cat>Tat	p.H198Y		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	198					negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		GGCTTGAGATGCAGCTCGCAG	0.652																																							uc001pwz.2		NA																	0				ovary(1)|breast(1)|kidney(1)|skin(1)	4						c.(592-594)CAT>TAT		tripartite motif protein TRIM29							33.0	35.0	34.0					11																	120008148		2203	4300	6503	SO:0001583	missense	23650				transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:120008148G>A	AF230388	CCDS8428.1	11q23.3	2011-04-20	2011-01-25		ENSG00000137699	ENSG00000137699		"""Tripartite motif containing / Tripartite motif containing"""	17274	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM29"", ""ataxia-telangiectasia group D-associated protein"""	610658	"""tripartite motif-containing 29"""			11331580	Standard	NM_012101		Approved	ATDC, FLJ36085	uc001pwz.3	Q14134	OTTHUMG00000140377	ENST00000341846.5:c.592C>T	11.37:g.120008148G>A	ENSP00000343129:p.His198Tyr					TRIM29_uc001pxa.2_RNA	p.H198Y	NM_012101	NP_036233	Q14134	TRI29_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)	1	716	-		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	198					Q96AA9|Q9BZY7	Missense_Mutation	SNP	ENST00000341846.5	37	c.592C>T	CCDS8428.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.767115	0.49574	.	.	ENSG00000137699	ENST00000341846	T	0.48836	0.8	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.78566	0.4303	M	0.93720	3.45	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.83025	-0.0165	9	.	.	.	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	198	Q14134	TRI29_HUMAN	Y	198	ENSP00000343129:H198Y	.	H	-	1	0	TRIM29	119513358	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.855000	0.99526	2.793000	0.96121	0.655000	0.94253	CAT		0.652	TRIM29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277108.2	NM_012101		9	17	0	0	0	0.008291	0	9	17				
OAF	220323	broad.mit.edu	37	11	120097704	120097704	+	Splice_Site	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:120097704A>T	ENST00000328965.4	+	3	1059	c.546A>T	c.(544-546)caA>caT	p.Q182H	OAF_ENST00000531220.1_Splice_Site_p.Q66H	NM_178507.2	NP_848602.1	Q86UD1	OAF_HUMAN	OAF homolog (Drosophila)	182						extracellular vesicular exosome (GO:0070062)		p.Q182Q(1)		kidney(1)|lung(5)	6		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		GGCTGGAGCAAGGTCAGCTGG	0.662																																							uc001pxb.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(544-546)CAA>CAT		OAF homolog precursor							34.0	29.0	31.0					11																	120097704		2203	4300	6503	SO:0001630	splice_region_variant	220323							g.chr11:120097704A>T	BC047726	CCDS8430.1	11q23.3	2010-11-23			ENSG00000184232	ENSG00000184232			28752	protein-coding gene	gene with protein product						12477932	Standard	NM_178507		Approved	MGC52117	uc001pxb.3	Q86UD1	OTTHUMG00000166139	ENST00000328965.4:c.547+1A>T	11.37:g.120097704A>T							p.Q182H	NM_178507	NP_848602	Q86UD1	OAF_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)	3	787	+		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)	182						Missense_Mutation	SNP	ENST00000328965.4	37	c.546A>T	CCDS8430.1	.	.	.	.	.	.	.	.	.	.	A	14.78	2.636216	0.47049	.	.	ENSG00000184232	ENST00000328965;ENST00000531220	T;T	0.31247	1.5;1.5	5.15	1.49	0.22878	.	0.301941	0.36444	N	0.002586	T	0.15869	0.0382	N	0.22421	0.69	0.35308	D	0.783628	B	0.11235	0.004	B	0.08055	0.003	T	0.09818	-1.0657	10	0.34782	T	0.22	-0.0296	3.7318	0.08496	0.6477:0.1564:0.0725:0.1234	.	182	Q86UD1	OAF_HUMAN	H	182;66	ENSP00000332613:Q182H;ENSP00000431865:Q66H	ENSP00000332613:Q182H	Q	+	3	2	OAF	119602914	1.000000	0.71417	0.998000	0.56505	0.883000	0.51084	4.047000	0.57383	-0.004000	0.14419	0.379000	0.24179	CAA		0.662	OAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388036.2	NM_178507	Missense_Mutation	9	11	0	0	0	0.000978	0	9	11				
GRIK4	2900	broad.mit.edu	37	11	120827647	120827647	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:120827647G>T	ENST00000527524.2	+	16	2146	c.1859G>T	c.(1858-1860)tGt>tTt	p.C620F	GRIK4_ENST00000438375.2_Missense_Mutation_p.C620F	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	620					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		TCCACCCGCTGTGTCAGTGGC	0.627																																							uc001pxn.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1858-1860)TGT>TTT		glutamate receptor KA1 precursor	L-Glutamic Acid(DB00142)						35.0	27.0	30.0					11																	120827647		2203	4299	6502	SO:0001583	missense	2900				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr11:120827647G>T	S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.1859G>T	11.37:g.120827647G>T	ENSP00000435648:p.Cys620Phe					GRIK4_uc009zav.1_Missense_Mutation_p.C620F|GRIK4_uc009zaw.1_Missense_Mutation_p.C620F|GRIK4_uc009zax.1_Missense_Mutation_p.C620F	p.C620F	NM_014619	NP_055434	Q16099	GRIK4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	16	2146	+		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)	620			Cytoplasmic (Potential).		A8K9L1	Missense_Mutation	SNP	ENST00000527524.2	37	c.1859G>T	CCDS8433.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.981473	0.74474	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	T;T	0.49432	0.78;0.78	4.86	4.86	0.63082	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.53045	0.1772	N	0.11927	0.2	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.995	T	0.63567	-0.6608	10	0.87932	D	0	.	17.9555	0.89067	0.0:0.0:1.0:0.0	.	620;620	A6H8K8;Q16099	.;GRIK4_HUMAN	F	620	ENSP00000435648:C620F;ENSP00000404063:C620F	ENSP00000404063:C620F	C	+	2	0	GRIK4	120332857	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	7.976000	0.88070	2.401000	0.81631	0.655000	0.94253	TGT		0.627	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619		5	14	1	0	1.024e-07	0.000602	1.31153e-07	5	14				
GRIK4	2900	broad.mit.edu	37	11	120852872	120852872	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:120852872T>A	ENST00000527524.2	+	20	2740	c.2453T>A	c.(2452-2454)gTg>gAg	p.V818E	GRIK4_ENST00000438375.2_Missense_Mutation_p.V818E	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	818					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		GGCTTAATCGTGGCCATTTTT	0.383																																							uc001pxn.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(2452-2454)GTG>GAG		glutamate receptor KA1 precursor	L-Glutamic Acid(DB00142)						252.0	254.0	254.0					11																	120852872		2203	4299	6502	SO:0001583	missense	2900				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr11:120852872T>A	S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.2453T>A	11.37:g.120852872T>A	ENSP00000435648:p.Val818Glu					GRIK4_uc009zaw.1_Missense_Mutation_p.V818E|GRIK4_uc009zax.1_Missense_Mutation_p.V818E	p.V818E	NM_014619	NP_055434	Q16099	GRIK4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	20	2740	+		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)	818			Helical; (Potential).		A8K9L1	Missense_Mutation	SNP	ENST00000527524.2	37	c.2453T>A	CCDS8433.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.690293	0.88735	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	T;T	0.13307	2.6;2.6	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.25717	0.0626	L	0.54323	1.7	0.80722	D	1	P	0.45011	0.848	P	0.50754	0.649	T	0.00494	-1.1706	10	0.87932	D	0	.	15.7081	0.77602	0.0:0.0:0.0:1.0	.	818	Q16099	GRIK4_HUMAN	E	818	ENSP00000435648:V818E;ENSP00000404063:V818E	ENSP00000404063:V818E	V	+	2	0	GRIK4	120358082	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.927000	0.70080	2.182000	0.69389	0.533000	0.62120	GTG		0.383	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619		31	75	0	0	0	0.003271	0	31	75				
SCN3B	55800	broad.mit.edu	37	11	123508911	123508911	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:123508911C>A	ENST00000392770.2	-	4	1369	c.567G>T	c.(565-567)gaG>gaT	p.E189D	SCN3B_ENST00000530277.1_Missense_Mutation_p.E189D|SCN3B_ENST00000299333.3_Missense_Mutation_p.E189D	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	189					atrial cardiac muscle cell action potential (GO:0086014)|axon guidance (GO:0007411)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|positive regulation of heart rate (GO:0010460)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|ventricular cardiac muscle cell action potential (GO:0086005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)	Valproic Acid(DB00313)|Zonisamide(DB00909)	CTTGGGCTGCCTCTTCGGCTT	0.453																																							uc001pza.1		NA																	0				large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(565-567)GAG>GAT		voltage-gated sodium channel beta-3 subunit							142.0	116.0	125.0					11																	123508911		2202	4299	6501	SO:0001583	missense	55800				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity	g.chr11:123508911C>A	AJ243396	CCDS8442.1	11q24.1	2014-09-17	2012-02-28		ENSG00000166257	ENSG00000166257		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"""	20665	protein-coding gene	gene with protein product		608214	"""sodium channel, voltage-gated, type III, beta"""			10688874	Standard	XR_428980		Approved	HSA243396	uc001pzb.1	Q9NY72	OTTHUMG00000166006	ENST00000392770.2:c.567G>T	11.37:g.123508911C>A	ENSP00000376523:p.Glu189Asp					SCN3B_uc001pzb.1_Missense_Mutation_p.E189D	p.E189D	NM_001040151	NP_001035241	Q9NY72	SCN3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)	5	974	-		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	189			Cytoplasmic (Potential).		A5H1I5|Q17RL3|Q9ULR2	Missense_Mutation	SNP	ENST00000392770.2	37	c.567G>T	CCDS8442.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.631477	0.67015	.	.	ENSG00000166257	ENST00000392770;ENST00000299333;ENST00000530277	D;D;D	0.96830	-4.14;-4.14;-4.14	5.7	2.83	0.33086	.	0.043077	0.85682	D	0.000000	D	0.95900	0.8665	L	0.52573	1.65	0.54753	D	0.999989	D	0.63880	0.993	D	0.67548	0.952	D	0.92744	0.6210	10	0.15952	T	0.53	-5.1984	8.2401	0.31654	0.0:0.5883:0.0:0.4117	.	189	Q9NY72	SCN3B_HUMAN	D	189	ENSP00000376523:E189D;ENSP00000299333:E189D;ENSP00000432785:E189D	ENSP00000299333:E189D	E	-	3	2	SCN3B	123014121	0.853000	0.29707	1.000000	0.80357	0.899000	0.52679	0.026000	0.13599	0.763000	0.33175	0.655000	0.94253	GAG		0.453	SCN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387412.1	NM_018400		6	18	1	0	2.0095e-06	0.001984	2.44928e-06	6	18				
OR10G8	219869	broad.mit.edu	37	11	123900510	123900510	+	Missense_Mutation	SNP	C	C	T	rs571022074		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:123900510C>T	ENST00000431524.1	+	1	214	c.181C>T	c.(181-183)Ctc>Ttc	p.L61F		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	61						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(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GTACTACTTCCTCACCAACCT	0.527													C|||	1	0.000199681	0.0	0.0014	5008	,	,		22507	0.0		0.0	False		,,,				2504	0.0						uc001pzp.1		NA																	0				ovary(1)|skin(1)	2						c.(181-183)CTC>TTC		olfactory receptor, family 10, subfamily G,							266.0	211.0	229.0					11																	123900510		2201	4299	6500	SO:0001583	missense	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123900510C>T	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.181C>T	11.37:g.123900510C>T	ENSP00000389072:p.Leu61Phe						p.L61F	NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	181	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	61			Helical; Name=2; (Potential).		B2RNJ3|Q6IEV2	Missense_Mutation	SNP	ENST00000431524.1	37	c.181C>T	CCDS31704.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.819774	0.50633	.	.	ENSG00000234560	ENST00000431524	T	0.14391	2.51	2.95	2.95	0.34219	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40469	N	0.001092	T	0.50582	0.1624	H	0.97365	3.99	0.35054	D	0.760949	D	0.89917	1.0	D	0.91635	0.999	T	0.75944	-0.3139	10	0.87932	D	0	.	13.0832	0.59125	0.0:1.0:0.0:0.0	.	61	Q8NGN5	O10G8_HUMAN	F	61	ENSP00000389072:L61F	ENSP00000389072:L61F	L	+	1	0	OR10G8	123405720	0.621000	0.27077	1.000000	0.80357	0.964000	0.63967	0.353000	0.20130	1.634000	0.50500	0.585000	0.79938	CTC		0.527	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		18	112	0	0	0	0.008871	0	18	112				
CCDC15	80071	broad.mit.edu	37	11	124847487	124847487	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:124847487G>T	ENST00000344762.5	+	6	1003	c.744G>T	c.(742-744)atG>atT	p.M248I	CCDC15_ENST00000529051.1_Missense_Mutation_p.M248I	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	248						centrosome (GO:0005813)				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		AGAATTATATGGAAAATCAGG	0.398																																							uc001qbm.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(742-744)ATG>ATT		coiled-coil domain containing 15							51.0	50.0	50.0					11																	124847487		1822	4067	5889	SO:0001583	missense	80071					centrosome		g.chr11:124847487G>T	BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.744G>T	11.37:g.124847487G>T	ENSP00000341684:p.Met248Ile						p.M248I	NM_025004	NP_079280	Q0P6D6	CCD15_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)	6	1003	+	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	248					Q9H8U7	Missense_Mutation	SNP	ENST00000344762.5	37	c.744G>T	CCDS44756.1	.	.	.	.	.	.	.	.	.	.	G	4.295	0.053987	0.08291	.	.	ENSG00000149548	ENST00000529051;ENST00000344762	T;T	0.29655	1.56;1.56	4.25	-1.28	0.09318	.	.	.	.	.	T	0.13286	0.0322	N	0.21448	0.665	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.32052	-0.9921	9	0.11182	T	0.66	-0.9287	0.5	0.00578	0.3:0.18:0.3366:0.1834	.	248	Q0P6D6	CCD15_HUMAN	I	248	ENSP00000435403:M248I;ENSP00000341684:M248I	ENSP00000341684:M248I	M	+	3	0	CCDC15	124352697	0.160000	0.22878	0.223000	0.23860	0.751000	0.42716	0.037000	0.13840	-0.030000	0.13804	0.467000	0.42956	ATG		0.398	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004		5	9	1	0	3.59834e-05	0.001168	4.13823e-05	5	9				
SPATA19	219938	broad.mit.edu	37	11	133714491	133714491	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:133714491G>C	ENST00000299140.3	-	3	234	c.180C>G	c.(178-180)atC>atG	p.I60M	SPATA19_ENST00000532889.1_Missense_Mutation_p.I60M	NM_174927.1	NP_777587.1	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19	60					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	mitochondrial outer membrane (GO:0005741)				cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		AAGGGTGGTTGATGGACAGCT	0.512																																							uc001qgv.1		NA																	0					0						c.(178-180)ATC>ATG		spermatogenesis associated 19 precursor							131.0	128.0	129.0					11																	133714491		2201	4297	6498	SO:0001583	missense	219938				cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane		g.chr11:133714491G>C	AK098717	CCDS8493.1	11q25	2010-04-23				ENSG00000166118			30614	protein-coding gene	gene with protein product	"""spergen 1"", ""cancer/testis antigen 132"""	609805				12477932	Standard	XM_005271448		Approved	FLJ25851, spergen1, SPAS1, CT132	uc001qgv.1	Q7Z5L4		ENST00000299140.3:c.180C>G	11.37:g.133714491G>C	ENSP00000299140:p.Ile60Met						p.I60M	NM_174927	NP_777587	Q7Z5L4	SPT19_HUMAN		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)	3	231	-	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)	60					Q8N7A9	Missense_Mutation	SNP	ENST00000299140.3	37	c.180C>G	CCDS8493.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.840979	0.32513	.	.	ENSG00000166118	ENST00000299140;ENST00000532889	T;T	0.48201	0.82;0.82	4.94	1.99	0.26369	.	1.158490	0.06389	N	0.716776	T	0.25269	0.0614	N	0.08118	0	0.09310	N	1	P	0.40032	0.699	B	0.32465	0.146	T	0.17379	-1.0371	10	0.66056	D	0.02	.	6.4417	0.21853	0.3084:0.0:0.6916:0.0	.	60	Q7Z5L4	SPT19_HUMAN	M	60	ENSP00000299140:I60M;ENSP00000435248:I60M	ENSP00000299140:I60M	I	-	3	3	SPATA19	133219701	0.011000	0.17503	0.001000	0.08648	0.011000	0.07611	0.373000	0.20484	0.588000	0.29660	0.655000	0.94253	ATC		0.512	SPATA19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393281.1	NM_174927		5	56	0	0	0	0.000602	0	5	56				
IGSF9B	22997	broad.mit.edu	37	11	133790145	133790145	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:133790145C>T	ENST00000321016.8	-	18	3705	c.3475G>A	c.(3475-3477)Ggc>Agc	p.G1159S	IGSF9B_ENST00000533871.2_Missense_Mutation_p.G1159S			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1159	Pro-rich.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CTGGGGCCGCCGTGCGCCCCC	0.682																																							uc001qgx.3		NA																	0					0						c.(3475-3477)GGC>AGC		immunoglobulin superfamily, member 9B							31.0	35.0	34.0					11																	133790145		1925	4112	6037	SO:0001583	missense	22997					integral to membrane|plasma membrane		g.chr11:133790145C>T	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.3475G>A	11.37:g.133790145C>T	ENSP00000317980:p.Gly1159Ser						p.G1159S	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	18	3706	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	1159			Pro-rich.|Cytoplasmic (Potential).		G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37	c.3475G>A		.	.	.	.	.	.	.	.	.	.	C	9.975	1.226560	0.22542	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.65732	0.15;-0.17	5.08	2.95	0.34219	.	0.477308	0.17592	N	0.168731	T	0.40297	0.1111	N	0.19112	0.55	0.23056	N	0.998368	B	0.12013	0.005	B	0.06405	0.002	T	0.19582	-1.0301	10	0.15499	T	0.54	.	6.7514	0.23489	0.0:0.5934:0.0:0.4066	.	1159	Q9UPX0	TUTLB_HUMAN	S	1159;1001	ENSP00000317980:G1159S;ENSP00000436552:G1001S	ENSP00000317980:G1159S	G	-	1	0	IGSF9B	133295355	0.578000	0.26717	0.981000	0.43875	0.939000	0.58152	0.822000	0.27352	0.348000	0.23949	0.455000	0.32223	GGC		0.682	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		10	39	0	0	0	0.001855	0	10	39				
CACNA1C	775	broad.mit.edu	37	12	2800282	2800282	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:2800282G>A	ENST00000347598.4	+	49	6478	c.6478G>A	c.(6478-6480)Gag>Aag	p.E2160K	CACNA1C_ENST00000399603.1_Missense_Mutation_p.E2112K|CACNA1C_ENST00000399634.1_Missense_Mutation_p.E2183K|CACNA1C_ENST00000399601.1_Missense_Mutation_p.E2112K|CACNA1C_ENST00000402845.3_Missense_Mutation_p.E2131K|CACNA1C_ENST00000399591.1_Missense_Mutation_p.E2120K|CACNA1C_ENST00000399621.1_Missense_Mutation_p.E2131K|CACNA1C_ENST00000399595.1_Missense_Mutation_p.E2120K|CACNA1C_ENST00000399655.1_Missense_Mutation_p.E2112K|CACNA1C_ENST00000327702.7_Missense_Mutation_p.E2147K|CACNA1C-AS1_ENST00000544517.1_RNA|CACNA1C_ENST00000399597.1_Missense_Mutation_p.E2112K|CACNA1C_ENST00000399641.1_Missense_Mutation_p.E2112K|CACNA1C_ENST00000399644.1_Missense_Mutation_p.E2112K|CACNA1C_ENST00000399637.1_Missense_Mutation_p.E2131K|CACNA1C_ENST00000399649.1_Missense_Mutation_p.E2118K|CACNA1C_ENST00000335762.5_Missense_Mutation_p.E2137K|CACNA1C_ENST00000399638.1_Missense_Mutation_p.E2140K|CACNA1C_ENST00000399606.1_Missense_Mutation_p.E2132K|CACNA1C_ENST00000399617.1_Missense_Mutation_p.E2147K|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399629.1_Missense_Mutation_p.E2129K|CACNA1C-AS1_ENST00000541673.1_RNA|CACNA1C_ENST00000406454.3_Missense_Mutation_p.E2183K|CACNA1C_ENST00000344100.3_Missense_Mutation_p.E2153K	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	2195					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CGGGGGCGAAGAGGACGCGGG	0.692																																							uc009zdu.1		NA																	0				ovary(10)|central_nervous_system(1)	11						c.(6583-6585)GAG>AAG		calcium channel, voltage-dependent, L type,	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						18.0	24.0	22.0					12																	2800282		1943	4113	6056	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2800282G>A	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.6478G>A	12.37:g.2800282G>A	ENSP00000266376:p.Glu2160Lys					CACNA1C_uc009zdv.1_Missense_Mutation_p.E2109K|CACNA1C_uc001qkb.2_Missense_Mutation_p.E2112K|CACNA1C_uc001qkc.2_Missense_Mutation_p.E2131K|CACNA1C_uc001qke.2_Missense_Mutation_p.E2101K|CACNA1C_uc001qkf.2_Missense_Mutation_p.E2120K|CACNA1C_uc001qjz.2_Missense_Mutation_p.E2112K|CACNA1C_uc001qkd.2_Missense_Mutation_p.E2131K|CACNA1C_uc001qkg.2_Missense_Mutation_p.E2118K|CACNA1C_uc009zdw.1_Missense_Mutation_p.E2153K|CACNA1C_uc001qkh.2_Missense_Mutation_p.E2120K|CACNA1C_uc001qkl.2_Missense_Mutation_p.E2160K|CACNA1C_uc001qkn.2_Missense_Mutation_p.E2112K|CACNA1C_uc001qko.2_Missense_Mutation_p.E2132K|CACNA1C_uc001qkp.2_Missense_Mutation_p.E2112K|CACNA1C_uc001qkr.2_Missense_Mutation_p.E2129K|CACNA1C_uc001qku.2_Missense_Mutation_p.E2147K|CACNA1C_uc001qkq.2_Missense_Mutation_p.E2140K|CACNA1C_uc001qks.2_Missense_Mutation_p.E2112K|CACNA1C_uc001qkt.2_Missense_Mutation_p.E2131K|CACNA1C_uc001qki.1_Missense_Mutation_p.E1919K|CACNA1C_uc001qkj.1_Missense_Mutation_p.E1883K|CACNA1C_uc001qkk.1_Missense_Mutation_p.E1848K|CACNA1C_uc001qkm.1_Missense_Mutation_p.E1908K|CACNA1C_uc010sea.1_Missense_Mutation_p.E803K|uc001qkx.1_RNA|CACNA1C_uc001qky.1_Missense_Mutation_p.E430K	p.E2195K	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	50	6896	+			2195			Cytoplasmic (Potential).		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.6583G>A	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.496465	0.44352	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.60672	0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17	4.49	3.57	0.40892	.	0.571672	0.17895	N	0.158385	T	0.46425	0.1392	L	0.36672	1.1	0.28536	N	0.91234	B;P;B;B;B;P;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.42556	0.017;0.694;0.03;0.019;0.123;0.783;0.082;0.123;0.199;0.102;0.102;0.03;0.01;0.123;0.018;0.075;0.01;0.225;0.338;0.043;0.082;0.332;0.102;0.082;0.03	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.39706	0.044;0.246;0.022;0.028;0.108;0.307;0.085;0.075;0.108;0.079;0.124;0.022;0.033;0.075;0.01;0.034;0.033;0.047;0.079;0.076;0.058;0.075;0.054;0.053;0.022	T	0.45190	-0.9278	10	0.56958	D	0.05	.	9.8568	0.41090	0.0:0.1521:0.6901:0.1577	.	803;2153;2109;2195;2147;2131;2112;2129;2140;2112;2132;2112;2143;2160;2112;2147;2183;2120;2118;2120;2101;2131;2131;2112;2112	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	K	2137;2112;2112;2140;2112;2131;2131;2120;2112;2160;2132;2112;2153;2129;2147;2118;2131;2112;2183;2147;2183;2120;2013	ENSP00000336982:E2137K;ENSP00000382563:E2112K;ENSP00000382552:E2112K;ENSP00000382547:E2140K;ENSP00000382506:E2112K;ENSP00000382530:E2131K;ENSP00000382546:E2131K;ENSP00000382500:E2120K;ENSP00000382549:E2112K;ENSP00000266376:E2160K;ENSP00000382515:E2132K;ENSP00000382510:E2112K;ENSP00000341092:E2153K;ENSP00000382537:E2129K;ENSP00000329877:E2147K;ENSP00000382557:E2118K;ENSP00000385724:E2131K;ENSP00000382512:E2112K;ENSP00000382542:E2183K;ENSP00000382526:E2147K;ENSP00000385896:E2183K;ENSP00000382504:E2120K	ENSP00000323129:E2013K	E	+	1	0	CACNA1C	2670543	1.000000	0.71417	0.618000	0.29105	0.864000	0.49448	3.874000	0.56101	1.211000	0.43351	0.591000	0.81541	GAG		0.692	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		15	11	0	0	0	0.006122	0	15	11				
CCND2	894	broad.mit.edu	37	12	4385191	4385191	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:4385191C>A	ENST00000261254.3	+	2	485	c.216C>A	c.(214-216)tgC>tgA	p.C72*	RP11-264F23.3_ENST00000539135.1_RNA|RP11-264F23.4_ENST00000537370.1_RNA	NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	cyclin D2	72	Cyclin N-terminal.				cell cycle (GO:0007049)|cell division (GO:0051301)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of protein phosphorylation (GO:0001934)	chromatin (GO:0000785)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			AACAGAAGTGCGAAGAAGAGG	0.532			T	IGL@	"""NHL,CLL"""																																		uc001qmo.2		NA		Dom	yes		12	12p13	894	T	cyclin D2			L	IGL@		NHL,CLL		0				haematopoietic_and_lymphoid_tissue(1)|breast(1)|kidney(1)	3						c.(214-216)TGC>TGA		cyclin D2							64.0	66.0	65.0					12																	4385191		2203	4300	6503	SO:0001587	stop_gained	894				cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding	g.chr12:4385191C>A	AF518005	CCDS8524.1	12p13	2008-08-04			ENSG00000118971	ENSG00000118971			1583	protein-coding gene	gene with protein product	"""G1/S-specific cyclin D2"""	123833				1386335	Standard	NM_001759		Approved		uc001qmo.3	P30279	OTTHUMG00000168123	ENST00000261254.3:c.216C>A	12.37:g.4385191C>A	ENSP00000261254:p.Cys72*						p.C72*	NM_001759	NP_001750	P30279	CCND2_HUMAN	all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)		2	521	+			72			Cyclin N-terminal.		A8K531|Q13955|Q5U035	Nonsense_Mutation	SNP	ENST00000261254.3	37	c.216C>A	CCDS8524.1	.	.	.	.	.	.	.	.	.	.	C	39	7.839517	0.98519	.	.	ENSG00000118971	ENST00000261254	.	.	.	5.15	-3.04	0.05412	.	0.192727	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3481	0.66680	0.0:0.701:0.0:0.299	.	.	.	.	X	72	.	ENSP00000261254:C72X	C	+	3	2	CCND2	4255452	0.888000	0.30383	0.980000	0.43619	0.984000	0.73092	-0.030000	0.12308	-0.483000	0.06772	-0.377000	0.06932	TGC		0.532	CCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398287.1	NM_001759		9	70	1	0	1.08611e-07	0.000978	1.38156e-07	9	70				
C12orf4	57102	broad.mit.edu	37	12	4598990	4598990	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:4598990G>C	ENST00000261250.3	-	14	1729	c.1642C>G	c.(1642-1644)Ctg>Gtg	p.L548V	C12orf4_ENST00000545746.1_Missense_Mutation_p.L548V	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	548										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		TTGGATGTCAGAGTGAGTGTT	0.378																																							uc001qms.2		NA																	0					0						c.(1642-1644)CTG>GTG		hypothetical protein LOC57102							169.0	160.0	163.0					12																	4598990		2203	4300	6503	SO:0001583	missense	57102							g.chr12:4598990G>C	AJ272205	CCDS8528.1	12p13.3	2012-08-10			ENSG00000047621	ENSG00000047621			1184	protein-coding gene	gene with protein product							Standard	NM_020374		Approved		uc001qms.3	Q9NQ89	OTTHUMG00000168258	ENST00000261250.3:c.1642C>G	12.37:g.4598990G>C	ENSP00000261250:p.Leu548Val					C12orf4_uc001qmt.2_Missense_Mutation_p.L548V	p.L548V	NM_020374	NP_065107	Q9NQ89	CL004_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)	14	1730	-			548					D3DUQ8|Q6MZH5	Missense_Mutation	SNP	ENST00000261250.3	37	c.1642C>G	CCDS8528.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.455106	0.63401	.	.	ENSG00000047621	ENST00000261250;ENST00000545746	.	.	.	5.5	3.66	0.41972	.	0.000000	0.85682	D	0.000000	T	0.69424	0.3109	M	0.64676	1.99	0.54753	D	0.999989	D	0.89917	1.0	D	0.87578	0.998	T	0.68981	-0.5266	9	0.46703	T	0.11	-19.3496	9.5671	0.39405	0.2205:0.0:0.7795:0.0	.	548	Q9NQ89	CL004_HUMAN	V	548	.	ENSP00000261250:L548V	L	-	1	2	C12orf4	4469251	1.000000	0.71417	0.919000	0.36401	0.994000	0.84299	3.114000	0.50383	1.317000	0.45149	0.460000	0.39030	CTG		0.378	C12orf4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398992.1	NM_020374		47	65	0	0	0	0.00361	0	47	65				
NTF3	4908	broad.mit.edu	37	12	5604066	5604066	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:5604066C>T	ENST00000331010.6	+	1	769	c.686C>T	c.(685-687)tCa>tTa	p.S229L	NTF3_ENST00000535299.1_Intron|NTF3_ENST00000423158.3_Missense_Mutation_p.S242L	NM_002527.4	NP_002518.1	P20783	NTF3_HUMAN	neurotrophin 3	229					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell-cell signaling (GO:0007267)|enteric nervous system development (GO:0048484)|epidermis development (GO:0008544)|glial cell fate determination (GO:0007403)|induction of positive chemotaxis (GO:0050930)|mechanoreceptor differentiation (GO:0042490)|myelination (GO:0042552)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive chemotaxis (GO:0050918)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glial cell differentiation (GO:0045687)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of synaptic transmission (GO:0050804)|signal transduction (GO:0007165)|smooth muscle cell differentiation (GO:0051145)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular region (GO:0005576)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						GCACTGACTTCAGAGAACAAT	0.488																																					GBM(194;1104 2182 8339 9578 18493)	GBM(194;1104 2182 8339 9578 18493)	uc001qnl.3		NA																	0				pancreas(1)	1						c.(685-687)TCA>TTA		neurotrophin 3 isoform 2 preproprotein							66.0	54.0	58.0					12																	5604066		2203	4300	6503	SO:0001583	missense	4908				signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding	g.chr12:5604066C>T		CCDS8538.1, CCDS44806.1	12p13	2014-01-30			ENSG00000185652	ENSG00000185652		"""Endogenous ligands"""	8023	protein-coding gene	gene with protein product		162660				1889806	Standard	NM_002527		Approved	NGF2	uc001qnk.4	P20783	OTTHUMG00000168649	ENST00000331010.6:c.686C>T	12.37:g.5604066C>T	ENSP00000328738:p.Ser229Leu					NTF3_uc001qnk.3_Missense_Mutation_p.S242L	p.S229L	NM_002527	NP_002518	P20783	NTF3_HUMAN			1	769	+			229					B7Z1T5|Q6FH50	Missense_Mutation	SNP	ENST00000331010.6	37	c.686C>T	CCDS8538.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.134701	0.77662	.	.	ENSG00000185652	ENST00000423158;ENST00000331010	T;T	0.65916	-0.18;-0.18	5.45	5.45	0.79879	Nerve growth factor-related (5);	0.215117	0.40818	N	0.001001	T	0.70219	0.3199	L	0.29908	0.895	0.54753	D	0.999988	D;D	0.61080	0.989;0.989	D;D	0.69654	0.965;0.965	T	0.71882	-0.4458	10	0.54805	T	0.06	-32.2114	18.2818	0.90101	0.0:1.0:0.0:0.0	.	229;242	P20783;B7Z1T5	NTF3_HUMAN;.	L	242;229	ENSP00000397297:S242L;ENSP00000328738:S229L	ENSP00000328738:S229L	S	+	2	0	NTF3	5474327	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.089000	0.71384	2.583000	0.87209	0.650000	0.86243	TCA		0.488	NTF3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400486.1			8	41	0	0	0	0.006214	0	8	41				
CD9	928	broad.mit.edu	37	12	6344465	6344465	+	Missense_Mutation	SNP	G	G	T	rs35799798		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:6344465G>T	ENST00000382518.1	+	6	855	c.419G>T	c.(418-420)cGg>cTg	p.R140L	Y_RNA_ENST00000365448.1_RNA|CD9_ENST00000009180.4_Missense_Mutation_p.R140L|CD9_ENST00000382515.2_Missense_Mutation_p.R71L|CD9_ENST00000481267.1_3'UTR			P21926	CD9_HUMAN	CD9 molecule	140					blood coagulation (GO:0007596)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|negative regulation of cell proliferation (GO:0008285)|oligodendrocyte development (GO:0014003)|paranodal junction assembly (GO:0030913)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|response to water deprivation (GO:0009414)|single fertilization (GO:0007338)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|vesicle (GO:0031982)				endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	8						GAGCCCCAGCGGGAAACGCTG	0.537																																							uc001qnp.1		NA																	0				ovary(1)	1						c.(418-420)CGG>CTG		CD9 antigen							141.0	128.0	133.0					12																	6344465		2203	4300	6503	SO:0001583	missense	928				cell adhesion|cellular component movement|fusion of sperm to egg plasma membrane|paranodal junction assembly|platelet activation|platelet degranulation	integral to plasma membrane|platelet alpha granule membrane		g.chr12:6344465G>T	M38690	CCDS8540.1	12p13	2013-02-14	2006-03-28		ENSG00000010278	ENSG00000010278		"""CD molecules"", ""Tetraspanins"""	1709	protein-coding gene	gene with protein product	"""motility related protein-1"""	143030	"""CD9 antigen (p24)"""	MIC3		6198179	Standard	NM_001769		Approved	BA2, P24, TSPAN29, MRP-1	uc001qnq.2	P21926	OTTHUMG00000044400	ENST00000382518.1:c.419G>T	12.37:g.6344465G>T	ENSP00000371958:p.Arg140Leu					CD9_uc010sev.1_Missense_Mutation_p.R140L|CD9_uc001qnq.1_Missense_Mutation_p.R140L	p.R140L	NM_001769	NP_001760	P21926	CD9_HUMAN			6	863	+			140			Extracellular (Potential).		D3DUQ9|Q5J7W6|Q96ES4	Missense_Mutation	SNP	ENST00000382518.1	37	c.419G>T	CCDS8540.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.590307	0.86851	.	.	ENSG00000010278	ENST00000382518;ENST00000536586;ENST00000382519;ENST00000425469;ENST00000543424;ENST00000009180;ENST00000382515	T;T;T;T;T	0.79554	-1.28;1.7;-1.28;-1.28;-1.28	5.69	3.53	0.40419	Tetraspanin, EC2 domain (1);CD81 extracellular domain (1);	0.690013	0.15001	N	0.286155	D	0.87621	0.6223	M	0.77406	2.37	0.46874	D	0.999232	D;P	0.65815	0.995;0.849	D;P	0.73380	0.98;0.844	D	0.86518	0.1814	10	0.66056	D	0.02	.	7.8633	0.29522	0.2727:0.0:0.7273:0.0	.	140;140	B4DK09;P21926	.;CD9_HUMAN	L	140;140;163;140;53;140;71	ENSP00000371958:R140L;ENSP00000440985:R140L;ENSP00000371959:R163L;ENSP00000009180:R140L;ENSP00000371955:R71L	ENSP00000009180:R140L	R	+	2	0	CD9	6214726	0.999000	0.42202	1.000000	0.80357	0.894000	0.52154	1.555000	0.36277	1.403000	0.46800	0.655000	0.94253	CGG		0.537	CD9-004	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103348.1			31	46	1	0	1.61788e-16	0.002445	2.57855e-16	31	46				
CD4	920	broad.mit.edu	37	12	6925297	6925297	+	Missense_Mutation	SNP	C	C	A	rs200190524		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:6925297C>A	ENST00000011653.4	+	6	941	c.683C>A	c.(682-684)aCa>aAa	p.T228K	CD4_ENST00000541982.1_3'UTR|CD4_ENST00000538827.1_3'UTR	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	228	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	CTCGCCTTTACAGTTGAAAAG	0.552																																							uc001qqv.1		NA																	0					0						c.(682-684)ACA>AAA		CD4 antigen precursor							121.0	107.0	112.0					12																	6925297		2203	4300	6503	SO:0001583	missense	920				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding	g.chr12:6925297C>A	M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1678	protein-coding gene	gene with protein product		186940	"""CD4 antigen (p55)"", ""T-cell surface glycoprotein CD4"""				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.683C>A	12.37:g.6925297C>A	ENSP00000011653:p.Thr228Lys					CD4_uc009zez.1_3'UTR|CD4_uc009zfa.1_RNA|CD4_uc009zfb.1_RNA|CD4_uc010sfj.1_5'UTR|CD4_uc009zfc.1_Missense_Mutation_p.T49K|CD4_uc010sfk.1_5'UTR|CD4_uc010sfl.1_5'UTR|CD4_uc010sfm.1_5'UTR	p.T228K	NM_000616	NP_000607	P01730	CD4_HUMAN			6	928	+		Myeloproliferative disorder(1001;0.0122)	228			Extracellular (Potential).|Ig-like C2-type 2.		B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Missense_Mutation	SNP	ENST00000011653.4	37	c.683C>A	CCDS8562.1	.	.	.	.	.	.	.	.	.	.	C	6.026	0.373211	0.11409	.	.	ENSG00000010610	ENST00000011653	T	0.28895	1.59	5.16	-5.59	0.02505	Immunoglobulin subtype (1);CD4, extracellular (1);Immunoglobulin-like fold (1);	2.049170	0.01842	N	0.035384	T	0.11153	0.0272	N	0.03608	-0.345	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.002;0.002	T	0.26121	-1.0112	10	0.07644	T	0.81	0.0749	6.6101	0.22747	0.3039:0.3849:0.3112:0.0	.	49;228	B0AZV7;P01730	.;CD4_HUMAN	K	228	ENSP00000011653:T228K	ENSP00000011653:T228K	T	+	2	0	CD4	6795558	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.613000	0.05610	-1.032000	0.03304	-0.410000	0.06199	ACA		0.552	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399978.1	NM_000616		15	91	1	0	1.15088e-07	0.004007	1.4602e-07	15	91				
SLC2A3	6515	broad.mit.edu	37	12	8075439	8075439	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:8075439C>A	ENST00000075120.7	-	9	1490	c.1250G>T	c.(1249-1251)gGa>gTa	p.G417V		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	417					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		GAAGAGCAATCCGACTAGGAA	0.517																																					Colon(96;424 1461 14416 20933 23688)	Colon(96;424 1461 14416 20933 23688)	uc001qtr.2		NA																	0				ovary(3)|pancreas(1)	4						c.(1249-1251)GGA>GTA		solute carrier family 2 (facilitated glucose							48.0	50.0	49.0					12																	8075439		2203	4300	6503	SO:0001583	missense	6515				carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	g.chr12:8075439C>A	M20681	CCDS8586.1	12p13.3	2013-05-22			ENSG00000059804	ENSG00000059804		"""Solute carriers"""	11007	protein-coding gene	gene with protein product		138170		GLUT3			Standard	NM_006931		Approved		uc001qtr.3	P11169	OTTHUMG00000133685	ENST00000075120.7:c.1250G>T	12.37:g.8075439C>A	ENSP00000075120:p.Gly417Val						p.G417V	NM_006931	NP_008862	P11169	GTR3_HUMAN		Kidney(36;0.0866)	9	1512	-			417			Helical; Name=11; (Potential).		B2R606|D3DUU6|Q6I9U2|Q9UG15	Missense_Mutation	SNP	ENST00000075120.7	37	c.1250G>T	CCDS8586.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.996374	0.54147	.	.	ENSG00000059804	ENST00000075120;ENST00000540978	T	0.80994	-1.44	4.34	4.34	0.51931	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.90235	0.6947	M	0.87758	2.905	0.80722	D	1	D	0.58620	0.983	D	0.74023	0.982	D	0.91931	0.5555	10	0.87932	D	0	.	14.7219	0.69314	0.0:1.0:0.0:0.0	.	417	P11169	GTR3_HUMAN	V	417;343	ENSP00000075120:G417V	ENSP00000075120:G417V	G	-	2	0	SLC2A3	7966706	1.000000	0.71417	0.821000	0.32701	0.042000	0.13812	5.244000	0.65400	2.398000	0.81561	0.655000	0.94253	GGA		0.517	SLC2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257914.1	NM_006931		26	38	1	0	8.4185e-14	0.002445	1.26448e-13	26	38				
PZP	5858	broad.mit.edu	37	12	9312562	9312562	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:9312562G>A	ENST00000261336.2	-	25	3137	c.3109C>T	c.(3109-3111)Cga>Tga	p.R1037*	PZP_ENST00000381997.2_Nonsense_Mutation_p.R823*|PZP_ENST00000539983.1_5'Flank	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	1037					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CTGCCATATCGTTCCCCAAAG	0.428																																					Melanoma(125;1402 1695 4685 34487 38571)	Melanoma(125;1402 1695 4685 34487 38571)	uc001qvl.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						c.(3109-3111)CGA>TGA		pregnancy-zone protein precursor							189.0	182.0	184.0					12																	9312562		2203	4300	6503	SO:0001587	stop_gained	5858							g.chr12:9312562G>A	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.3109C>T	12.37:g.9312562G>A	ENSP00000261336:p.Arg1037*					PZP_uc009zgl.2_Nonsense_Mutation_p.R823*	p.R1037*	NM_002864	NP_002855					25	3138	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Nonsense_Mutation	SNP	ENST00000261336.2	37	c.3109C>T	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.431598	0.83776	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	.	.	.	4.84	-2.99	0.05497	.	4.496270	0.00659	U	0.000585	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.2685	0.31829	0.1302:0.0:0.3545:0.5153	.	.	.	.	X	1037;823	.	ENSP00000261336:R1037X	R	-	1	2	PZP	9203829	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.809000	0.04510	-0.803000	0.04415	-1.479000	0.00991	CGA		0.428	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		41	80	0	0	0	0.00361	0	41	80				
DDX12P	440081	broad.mit.edu	37	12	9577158	9577158	+	IGR	SNP	C	C	A	rs201553936		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:9577158C>A								RP13-735L24.1 (26945 upstream) : SNORA75 (20495 downstream)																							GACCACTGCCCGGCATTCCTT	0.572																																							uc010sgs.1		NA																	0					0						c.(1840-1842)CGG>CTG		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12							85.0	79.0	81.0					12																	9577158		692	1591	2283	SO:0001628	intergenic_variant	440081							g.chr12:9577158C>A																													12.37:g.9577158C>A							p.R614L	NM_004400	NP_004391					18	2036	-									Missense_Mutation	SNP		37	c.1841G>T																																																																																				0	0.572									8	49	1	0	1.12685e-05	0.004482	1.32356e-05	8	49				
OLR1	4973	broad.mit.edu	37	12	10319353	10319353	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:10319353G>C	ENST00000309539.3	-	3	442	c.382C>G	c.(382-384)Ctg>Gtg	p.L128V	OLR1_ENST00000543993.1_Missense_Mutation_p.L24V|OLR1_ENST00000545927.1_Missense_Mutation_p.L128V|OLR1_ENST00000544577.1_Missense_Mutation_p.L128V|OLR1_ENST00000432556.2_Missense_Mutation_p.L128V	NM_002543.3	NP_002534.1	P78380	OLR1_HUMAN	oxidized low density lipoprotein (lectin-like) receptor 1	128	Neck.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell death (GO:0008219)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|lipoprotein metabolic process (GO:0042157)|proteolysis (GO:0006508)|response to hydrogen peroxide (GO:0042542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|low-density lipoprotein receptor activity (GO:0005041)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						TGGAGATTCAGATTCTGGTGG	0.423																																							uc001qxo.1		NA																	0				ovary(1)	1						c.(382-384)CTG>GTG		oxidized low density lipoprotein (lectin-like)							184.0	171.0	176.0					12																	10319353		2203	4300	6503	SO:0001583	missense	4973				blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis	extracellular region|integral to plasma membrane|membrane fraction	sugar binding	g.chr12:10319353G>C	D89050	CCDS8618.1, CCDS53745.1, CCDS53746.1	12p13.1-p12.3	2011-08-30	2006-12-07		ENSG00000173391	ENSG00000173391		"""C-type lectin domain containing"""	8133	protein-coding gene	gene with protein product		602601	"""oxidised low density lipoprotein (lectin-like) receptor 1"""			9763655	Standard	NM_002543		Approved	LOX-1, SCARE1, CLEC8A	uc001qxo.1	P78380	OTTHUMG00000168527	ENST00000309539.3:c.382C>G	12.37:g.10319353G>C	ENSP00000309124:p.Leu128Val					OLR1_uc010sgz.1_Missense_Mutation_p.L24V|OLR1_uc010sha.1_Missense_Mutation_p.L128V	p.L128V	NM_002543	NP_002534	P78380	OLR1_HUMAN			3	496	-			128			Extracellular (Potential).|Neck.		A8K7V9|B4DI48|G3V1I4|Q2PP00|Q7Z484	Missense_Mutation	SNP	ENST00000309539.3	37	c.382C>G	CCDS8618.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.249459	0.39797	.	.	ENSG00000173391	ENST00000309539;ENST00000544577;ENST00000543993;ENST00000545927;ENST00000432556;ENST00000539518;ENST00000538745;ENST00000339968;ENST00000538873;ENST00000543414	T;T;T;T;T;T;T	0.41758	2.26;0.99;2.26;2.26;2.26;2.26;2.26	5.08	0.768	0.18487	C-type lectin-like (1);	0.382752	0.19325	N	0.117024	T	0.44030	0.1274	M	0.68317	2.08	0.23132	N	0.998244	P;D	0.59357	0.705;0.985	B;P	0.50537	0.359;0.643	T	0.31166	-0.9953	10	0.28530	T	0.3	.	7.8924	0.29686	0.0:0.1523:0.378:0.4696	.	128;128	B4DI48;P78380	.;OLR1_HUMAN	V	128;128;24;128;128;75;24;24;24;75	ENSP00000309124:L128V;ENSP00000439251:L128V;ENSP00000442389:L75V;ENSP00000438925:L24V;ENSP00000340572:L24V;ENSP00000438744:L24V;ENSP00000444068:L75V	ENSP00000309124:L128V	L	-	1	2	OLR1	10210620	0.012000	0.17670	0.896000	0.35187	0.515000	0.34225	-0.627000	0.05521	0.347000	0.23924	-0.182000	0.12963	CTG		0.423	OLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400091.1	NM_002543		30	62	0	0	0	0.002445	0	30	62				
TAS2R7	50837	broad.mit.edu	37	12	10955157	10955157	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:10955157C>A	ENST00000240687.2	-	1	69	c.13G>T	c.(13-15)Gtg>Ttg	p.V5L		NM_023919.2	NP_076408.1	Q9NYW3	TA2R7_HUMAN	taste receptor, type 2, member 7	5					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						GTAGTCTGCACTTTATCTGCC	0.383																																							uc001qyv.2		NA																	0				skin(1)	1						c.(13-15)GTG>TTG		taste receptor, type 2, member 7							112.0	116.0	115.0					12																	10955157		2201	4299	6500	SO:0001583	missense	50837				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:10955157C>A	AF227133	CCDS8631.1	12p13	2012-08-22			ENSG00000121377	ENSG00000121377		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14913	protein-coding gene	gene with protein product		604793				10761934, 10766242	Standard	NM_023919		Approved	T2R7, TRB4	uc001qyv.3	Q9NYW3	OTTHUMG00000168505	ENST00000240687.2:c.13G>T	12.37:g.10955157C>A	ENSP00000240687:p.Val5Leu						p.V5L	NM_023919	NP_076408	Q9NYW3	TA2R7_HUMAN			1	70	-			5			Extracellular (Potential).		Q645Y1	Missense_Mutation	SNP	ENST00000240687.2	37	c.13G>T	CCDS8631.1	.	.	.	.	.	.	.	.	.	.	C	8.483	0.860239	0.17178	.	.	ENSG00000121377	ENST00000240687	T	0.00717	5.79	4.68	-6.24	0.02046	.	1.449980	0.05069	U	0.481257	T	0.00412	0.0013	N	0.05199	-0.095	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.47018	-0.9149	10	0.07482	T	0.82	.	5.6934	0.17843	0.2361:0.2243:0.0:0.5396	.	5	Q9NYW3	TA2R7_HUMAN	L	5	ENSP00000240687:V5L	ENSP00000240687:V5L	V	-	1	0	TAS2R7	10846424	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.777000	0.04669	-1.664000	0.01479	-0.238000	0.12139	GTG		0.383	TAS2R7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399931.1			13	140	1	0	0.00185496	0.001855	0.00200605	13	140				
PRB1	5542	broad.mit.edu	37	12	11506604	11506604	+	Intron	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:11506604C>T	ENST00000500254.2	-	3	351				PRB1_ENST00000545626.1_Intron|PRB1_ENST00000546254.1_Intron	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1							extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			GACTTGTCTCCTTGTGGGGGT	0.607																																							uc001qzw.1		NA																	0					0						c.(433-435)GGA>AGA		proline-rich protein BstNI subfamily 1 isoform 1							11.0	7.0	9.0					12																	11506604		1229	2193	3422	SO:0001627	intron_variant	5542					extracellular region		g.chr12:11506604C>T		CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.313+119G>A	12.37:g.11506604C>T						PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	p.G145R	NM_005039	NP_005030	P04280	PRP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	470	-			206		Missing (in clone CP-4).|Missing (in clone CP-5).|Missing (in allele S).	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].|8.		Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Missense_Mutation	SNP	ENST00000500254.2	37	c.433G>A	CCDS8642.1																																																																																				0.607	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402312.1	NM_005039		12	118	0	0	0	0.002096	0	12	118				
PRB2	653247	broad.mit.edu	37	12	11546699	11546699	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:11546699C>T	ENST00000389362.4	-	3	348	c.313G>A	c.(313-315)Gga>Aga	p.G105R	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	105	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GACTTGTCTCCTTGTGGGGGT	0.607																																							uc010shk.1		NA																	0					0						c.(313-315)GGA>AGA		proline-rich protein BstNI subfamily 2							292.0	317.0	309.0					12																	11546699		2203	4300	6503	SO:0001583	missense	653247							g.chr12:11546699C>T	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.313G>A	12.37:g.11546699C>T	ENSP00000374013:p.Gly105Arg						p.G105R	NM_006248	NP_006239			OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	348	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	Missense_Mutation	SNP	ENST00000389362.4	37	c.313G>A	CCDS41757.2	.	.	.	.	.	.	.	.	.	.	.	7.987	0.752465	0.15778	.	.	ENSG00000121335	ENST00000389362	T	0.09350	2.99	1.0	-1.83	0.07833	.	.	.	.	.	T	0.12347	0.0300	M	0.82323	2.585	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.40572	-0.9556	9	0.19147	T	0.46	.	5.2597	0.15565	0.0:0.566:0.0:0.434	.	105	P02812	PRB2_HUMAN	R	105	ENSP00000374013:G105R	ENSP00000374013:G105R	G	-	1	0	PRB2	11437966	0.007000	0.16637	0.001000	0.08648	0.037000	0.13140	1.528000	0.35985	-0.410000	0.07542	0.000000	0.15137	GGA		0.607	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		61	494	0	0	0	0.00361	0	61	494				
GPRC5A	9052	broad.mit.edu	37	12	13061883	13061883	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:13061883C>T	ENST00000014914.5	+	2	1590	c.700C>T	c.(700-702)Cct>Tct	p.P234S	GPRC5A_ENST00000542056.1_Intron	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, class C, group 5, member A	234					signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	GCTCATGCTTCCTGACTTTGA	0.572																																							uc001rba.2		NA																	0					0						c.(700-702)CCT>TCT		G protein-coupled receptor, family C, group 5,	Tretinoin(DB00755)						161.0	134.0	143.0					12																	13061883		2203	4300	6503	SO:0001583	missense	9052					cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane	G-protein coupled receptor activity	g.chr12:13061883C>T	AF095448	CCDS8657.1	12p13-p12.3	2014-01-30	2014-01-30	2005-05-03		ENSG00000013588		"""GPCR / Class C : Orphans"""	9836	protein-coding gene	gene with protein product		604138	"""retinoic acid induced 3"", ""G protein-coupled receptor, family C, group 5, member A"""	RAI3, GPCR5A		9857033	Standard	NM_003979		Approved	RAIG1	uc001rba.3	Q8NFJ5		ENST00000014914.5:c.700C>T	12.37:g.13061883C>T	ENSP00000014914:p.Pro234Ser					GPRC5A_uc001raz.2_Missense_Mutation_p.P234S	p.P234S	NM_003979	NP_003970	Q8NFJ5	RAI3_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0708)	2	1350	+		Prostate(47;0.141)	234			Extracellular (Potential).		B3KV45|O95357	Missense_Mutation	SNP	ENST00000014914.5	37	c.700C>T	CCDS8657.1	.	.	.	.	.	.	.	.	.	.	C	2.492	-0.317157	0.05386	.	.	ENSG00000013588	ENST00000014914;ENST00000534831	D;D	0.87103	-2.21;-2.21	5.2	0.654	0.17833	GPCR, family 3, C-terminal (1);	1.019750	0.07814	N	0.958613	T	0.74703	0.3751	N	0.20986	0.625	0.09310	N	1	B;B	0.14438	0.01;0.005	B;B	0.15052	0.012;0.008	T	0.58787	-0.7575	10	0.27785	T	0.31	-33.9043	2.3647	0.04315	0.1124:0.3092:0.3754:0.203	.	234;234	Q8NFJ5;A8K556	RAI3_HUMAN;.	S	234	ENSP00000014914:P234S;ENSP00000441627:P234S	ENSP00000014914:P234S	P	+	1	0	GPRC5A	12953150	0.975000	0.34042	0.005000	0.12908	0.048000	0.14542	2.799000	0.47892	0.554000	0.29061	0.549000	0.68633	CCT		0.572	GPRC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400682.1			33	46	0	0	0	0.002445	0	33	46				
PIK3C2G	5288	broad.mit.edu	37	12	18446839	18446839	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:18446839T>A	ENST00000266497.5	+	4	962	c.924T>A	c.(922-924)aaT>aaA	p.N308K	PIK3C2G_ENST00000433979.1_Missense_Mutation_p.N308K|PIK3C2G_ENST00000536967.1_3'UTR|RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.N308K|PIK3C2G_ENST00000535651.1_Missense_Mutation_p.N308K			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	308	PI3K-RBD. {ECO:0000255|PROSITE- ProRule:PRU00879}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CTTTAGCTAATTATCTTGTCA	0.313																																							uc001rdt.2		NA																	0				lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2)	21						c.(922-924)AAT>AAA		phosphoinositide-3-kinase, class 2 gamma							62.0	55.0	57.0					12																	18446839		1800	4063	5863	SO:0001583	missense	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18446839T>A	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.924T>A	12.37:g.18446839T>A	ENSP00000266497:p.Asn308Lys					PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Missense_Mutation_p.N308K|PIK3C2G_uc010sic.1_Missense_Mutation_p.N86K	p.N308K	NM_004570	NP_004561	O75747	P3C2G_HUMAN			5	1040	+		Hepatocellular(102;0.194)	308					A1L3U0	Missense_Mutation	SNP	ENST00000266497.5	37	c.924T>A	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	T	5.166	0.216219	0.09810	.	.	ENSG00000139144	ENST00000535651;ENST00000433979;ENST00000266497;ENST00000538779	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	4.19	0.347	0.16022	Phosphoinositide 3-kinase, ras-binding (2);	0.862419	0.10176	N	0.706465	T	0.36936	0.0985	M	0.63428	1.95	0.27219	N	0.959709	B;B;B	0.20052	0.041;0.033;0.018	B;B;B	0.25759	0.063;0.037;0.034	T	0.39375	-0.9617	10	0.48119	T	0.1	-18.7084	3.9572	0.09395	0.1576:0.2141:0.0:0.6283	.	307;308;308	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	K	308	ENSP00000443850:N308K;ENSP00000404845:N308K;ENSP00000266497:N308K;ENSP00000445381:N308K	ENSP00000266497:N308K	N	+	3	2	PIK3C2G	18338106	1.000000	0.71417	0.980000	0.43619	0.010000	0.07245	0.315000	0.19451	-0.182000	0.10602	-1.463000	0.01021	AAT		0.313	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		7	8	0	0	0	0.00308	0	7	8				
SLCO1C1	53919	broad.mit.edu	37	12	20868121	20868121	+	Missense_Mutation	SNP	G	G	C	rs368099003		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:20868121G>C	ENST00000266509.2	+	6	946	c.578G>C	c.(577-579)gGc>gCc	p.G193A	SLCO1C1_ENST00000381552.1_Missense_Mutation_p.G193A|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.G75A|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.G193A|SLCO1C1_ENST00000540354.1_Intron	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	193					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	GTTTTCCTGGGCAATCTTCTT	0.403																																							uc001rej.3		NA																	0				ovary(5)|pancreas(1)|skin(1)	7						c.(577-579)GGC>GCC		solute carrier organic anion transporter family,							206.0	197.0	200.0					12																	20868121		2203	4300	6503	SO:0001583	missense	53919				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr12:20868121G>C	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.578G>C	12.37:g.20868121G>C	ENSP00000266509:p.Gly193Ala					SLCO1C1_uc010sii.1_Missense_Mutation_p.G193A|SLCO1C1_uc010sij.1_Intron|SLCO1C1_uc009zip.2_Missense_Mutation_p.G27A|SLCO1C1_uc001rei.2_Missense_Mutation_p.G193A|SLCO1C1_uc010sik.1_Missense_Mutation_p.G75A	p.G193A	NM_017435	NP_059131	Q9NYB5	SO1C1_HUMAN			7	933	+	Esophageal squamous(101;0.149)		193			Helical; Name=4; (Potential).		B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	ENST00000266509.2	37	c.578G>C	CCDS8683.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.721972	0.89298	.	.	ENSG00000139155	ENST00000545604;ENST00000266509;ENST00000381552;ENST00000545102	T;T;T;T	0.80123	1.32;1.32;1.32;-1.34	4.99	4.99	0.66335	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.115441	0.64402	D	0.000014	D	0.84969	0.5590	L	0.48218	1.51	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.97110	1.0;1.0;0.994	T	0.79269	-0.1873	10	0.06891	T	0.86	.	18.6411	0.91396	0.0:0.0:1.0:0.0	.	75;193;193	F5GZD6;Q5JPA4;Q9NYB5	.;.;SO1C1_HUMAN	A	193;193;193;75	ENSP00000444149:G193A;ENSP00000266509:G193A;ENSP00000370964:G193A;ENSP00000444527:G75A	ENSP00000266509:G193A	G	+	2	0	SLCO1C1	20759388	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.437000	0.97535	2.473000	0.83533	0.563000	0.77884	GGC		0.403	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		50	91	0	0	0	0.00361	0	50	91				
SLCO1B1	10599	broad.mit.edu	37	12	21355454	21355455	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:21355454_21355455GG>TT	ENST00000256958.2	+	10	1261_1262	c.1165_1166GG>TT	c.(1165-1167)GGa>TTa	p.G389L		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	389					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	TTTTGCAAGTGGAATGTTTTTA	0.297																																							uc001req.3		NA																	0				ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8						c.(1165-1167)GGA>TTA		solute carrier organic anion transporter family,	Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)																																			SO:0001583	missense	10599				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	g.chr12:21355454_21355455GG>TT		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	Exception_encountered	12.37:g.21355454_21355455delinsTT	ENSP00000256958:p.Gly389Leu						p.G389L	NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN			10	1269_1270	+			389			Helical; Name=8; (Potential).		B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	DNP	ENST00000256958.2	37	c.1165_1166GG>TT	CCDS8685.1																																																																																				0.297	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446		6	24	0	0	0	0.004672	0	6	24				
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:25398285C>A	ENST00000256078.4	-	2	97	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000311936.3_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	uc001rgp.1	G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12C(CALU1_LUNG)|G12C(NCIH2030_LUNG)|G12C(LU99_LUNG)|G12C(NCIH1792_LUNG)|G12R(KP2_PANCREAS)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH2122_LUNG)|G12C(NCIH358_LUNG)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12S(A549_LUNG)|G12R(HUPT3_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12C(HCC44_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(SW1463_LARGE_INTESTINE)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12C(NCIH1373_LUNG)|G12C(MIAPACA2_PANCREAS)|G12R(HS274T_BREAST)|G12S(LS123_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(OV56_OVARY)|G12C(IALM_LUNG)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			pancreatic|colorectal|lung|thyroid|AML|others		5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12G(6)|p.G12N(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)GGT>TGT		c-K-ras2 protein isoform a precursor							93.0	83.0	86.0					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	Cardiofaciocutaneous_syndrome|Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398285C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>T	12.37:g.25398285C>A	ENSP00000256078:p.Gly12Cys	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_RNA	p.G12C	NM_033360	NP_203524	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	215	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).	GTP.		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.34G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676185	0.88445	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90466	0.7014	M	0.90650	3.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	D	0.91833	0.5477	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	C	12	ENSP00000308495:G12C;ENSP00000452512:G12C;ENSP00000256078:G12C;ENSP00000451856:G12C	ENSP00000256078:G12C	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		8	18	1	0	5.16669e-11	0.000978	7.3031e-11	8	18				
OVOS2	144203	broad.mit.edu	37	12	31289572	31289572	+	IGR	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:31289572C>A								RP11-551L14.1 (19167 upstream) : FAM60A (143945 downstream)																							TGACGAGGTCCCACATCCATG	0.363																																							uc010sjy.1		NA																	0					NA						c.(2185-2187)TGG>TGT		RecName: Full=Ovostatin homolog 1; Flags: Precursor;							109.0	113.0	112.0					12																	31289572		1825	4068	5893	SO:0001628	intergenic_variant	0							g.chr12:31289572C>A																													12.37:g.31289572C>A							p.W729C							16	2187	-									Missense_Mutation	SNP		37	c.2187G>T																																																																																				0	0.363									19	25	1	0	3.2961e-07	0.004878	4.12567e-07	19	25				
BICD1	636	broad.mit.edu	37	12	32369271	32369271	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:32369271G>A	ENST00000281474.5	+	2	407	c.304G>A	c.(304-306)Gag>Aag	p.E102K	BICD1_ENST00000548411.1_Missense_Mutation_p.E102K	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	102					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			AGCATCGAAGGAGGCTTACTA	0.542																																							uc001rku.2		NA																	0				large_intestine(1)|central_nervous_system(1)	2						c.(304-306)GAG>AAG		bicaudal D homolog 1 isoform 1							114.0	107.0	109.0					12																	32369271		2203	4300	6503	SO:0001583	missense	636				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton	g.chr12:32369271G>A	U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"""Bicaudal D (Drosophila) homolog 1"""			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.304G>A	12.37:g.32369271G>A	ENSP00000281474:p.Glu102Lys					BICD1_uc001rkv.2_Missense_Mutation_p.E102K|BICD1_uc010skd.1_RNA	p.E102K	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0201)		2	385	+	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		102			Potential.		A8K2C3|F8W113|O43892|O43893	Missense_Mutation	SNP	ENST00000281474.5	37	c.304G>A	CCDS8726.1	.	.	.	.	.	.	.	.	.	.	G	36	5.667958	0.96745	.	.	ENSG00000151746	ENST00000548411;ENST00000281474	T;T	0.64991	-0.13;-0.13	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.83538	0.5276	M	0.89904	3.07	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.83275	0.987;0.996	D	0.84661	0.0706	10	0.44086	T	0.13	.	19.5182	0.95174	0.0:0.0:1.0:0.0	.	102;102	F8W113;Q96G01	.;BICD1_HUMAN	K	102	ENSP00000446793:E102K;ENSP00000281474:E102K	ENSP00000281474:E102K	E	+	1	0	BICD1	32260538	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.573000	0.98181	2.603000	0.88011	0.655000	0.94253	GAG		0.542	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	NM_001714		27	30	0	0	0	0.00632	0	27	30				
C12orf40	283461	broad.mit.edu	37	12	40076933	40076933	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:40076933G>A	ENST00000324616.5	+	8	1361	c.1207G>A	c.(1207-1209)Gaa>Aaa	p.E403K	C12orf40_ENST00000398716.1_Missense_Mutation_p.E326K|C12orf40_ENST00000405531.3_Missense_Mutation_p.E403K	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	403										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						AAGCAGCTCTGAAAGAAAAGG	0.289																																							uc001rmc.2		NA																	0				ovary(6)	6						c.(1207-1209)GAA>AAA		hypothetical protein LOC283461							44.0	43.0	44.0					12																	40076933		1782	3938	5720	SO:0001583	missense	283461							g.chr12:40076933G>A	AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.1207G>A	12.37:g.40076933G>A	ENSP00000317671:p.Glu403Lys					C12orf40_uc009zjv.1_RNA	p.E403K	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN			8	1374	+			403					B7WNU1|Q8IXY6|Q8N818|V9HW02	Missense_Mutation	SNP	ENST00000324616.5	37	c.1207G>A	CCDS41770.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.988383	0.35036	.	.	ENSG00000180116	ENST00000405531;ENST00000398716;ENST00000324616	T;T	0.49432	0.78;0.79	5.11	3.24	0.37175	.	0.607072	0.15513	N	0.258452	T	0.40040	0.1101	L	0.27053	0.805	0.26451	N	0.975619	P	0.46784	0.884	P	0.48063	0.565	T	0.14559	-1.0468	10	0.46703	T	0.11	.	8.6069	0.33778	0.0841:0.153:0.7629:0.0	.	403	Q86WS4	CL040_HUMAN	K	403;326;403	ENSP00000383897:E403K;ENSP00000317671:E403K	ENSP00000317671:E403K	E	+	1	0	C12orf40	38363200	1.000000	0.71417	0.856000	0.33681	0.121000	0.20230	1.359000	0.34113	0.785000	0.33685	0.591000	0.81541	GAA		0.289	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257664.2	NM_173599		14	22	0	0	0	0.006122	0	14	22				
ADAMTS20	80070	broad.mit.edu	37	12	43771274	43771274	+	Missense_Mutation	SNP	C	C	A	rs112430320		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:43771274C>A	ENST00000389420.3	-	32	4888	c.4889G>T	c.(4888-4890)cGg>cTg	p.R1630L		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1630	TSP type-1 14. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AACTATAGGCCGAAGTCGATG	0.413																																							uc010skx.1		NA																	0				central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(4888-4890)CGG>CTG		a disintegrin-like and metalloprotease with							132.0	121.0	125.0					12																	43771274		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43771274C>A	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.4889G>T	12.37:g.43771274C>A	ENSP00000374071:p.Arg1630Leu						p.R1630L	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	32	4889	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1630			TSP type-1 14.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.4889G>T	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	C	9.219	1.032885	0.19590	.	.	ENSG00000173157	ENST00000389420	T	0.59224	0.28	5.08	3.26	0.37387	.	0.767160	0.11370	N	0.570964	T	0.51415	0.1673	L	0.46157	1.445	0.80722	D	1	B	0.21147	0.052	B	0.19666	0.026	T	0.40098	-0.9581	10	0.37606	T	0.19	.	12.2067	0.54356	0.0:0.8589:0.0:0.1411	.	1630	P59510	ATS20_HUMAN	L	1630	ENSP00000374071:R1630L	ENSP00000374071:R1630L	R	-	2	0	ADAMTS20	42057541	0.000000	0.05858	0.708000	0.30435	0.023000	0.10783	-0.573000	0.05874	0.820000	0.34516	-0.122000	0.15005	CGG		0.413	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		5	11	1	0	0.000602214	0.000602	0.00065942	5	11				
ADAMTS20	80070	broad.mit.edu	37	12	43925971	43925971	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:43925971C>A	ENST00000389420.3	-	3	480	c.481G>T	c.(481-483)Gaa>Taa	p.E161*	ADAMTS20_ENST00000553158.1_Nonsense_Mutation_p.E161*	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	161					extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AAGAAATATTCACCGTTCTGT	0.343																																							uc010skx.1		NA																	0				central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(481-483)GAA>TAA		a disintegrin-like and metalloprotease with							134.0	137.0	136.0					12																	43925971		2202	4300	6502	SO:0001587	stop_gained	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43925971C>A	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.481G>T	12.37:g.43925971C>A	ENSP00000374071:p.Glu161*						p.E161*	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	3	481	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	161					A6NNC9|J3QT00	Nonsense_Mutation	SNP	ENST00000389420.3	37	c.481G>T	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	C	32	5.127073	0.94429	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	.	.	.	4.74	4.74	0.60224	.	0.150968	0.29362	N	0.012378	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	17.3727	0.87383	0.0:1.0:0.0:0.0	.	.	.	.	X	161	.	ENSP00000374068:E161X	E	-	1	0	ADAMTS20	42212238	1.000000	0.71417	0.999000	0.59377	0.715000	0.41141	5.456000	0.66665	2.560000	0.86352	0.585000	0.79938	GAA		0.343	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		19	36	1	0	8.10497e-08	0.010504	1.03987e-07	19	36				
ANO6	196527	broad.mit.edu	37	12	45751133	45751133	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:45751133G>C	ENST00000320560.8	+	8	1126	c.924G>C	c.(922-924)atG>atC	p.M308I	ANO6_ENST00000425752.2_Missense_Mutation_p.M308I|ANO6_ENST00000435642.1_Missense_Mutation_p.M308I|ANO6_ENST00000441606.2_Missense_Mutation_p.M290I|ANO6_ENST00000423947.3_Missense_Mutation_p.M329I|ANO6_ENST00000426898.2_3'UTR	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	308					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						ACACTCAGATGCTTCTCCTGG	0.393																																							uc001roo.2		NA																	0				ovary(1)|kidney(1)	2						c.(922-924)ATG>ATC		anoctamin 6 isoform a							133.0	133.0	133.0					12																	45751133		2203	4300	6503	SO:0001583	missense	196527				activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	g.chr12:45751133G>C	AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25240	protein-coding gene	gene with protein product		608663	"""transmembrane protein 16F"""	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.924G>C	12.37:g.45751133G>C	ENSP00000320087:p.Met308Ile					ANO6_uc010sld.1_Missense_Mutation_p.M308I|ANO6_uc010sle.1_Missense_Mutation_p.M308I|ANO6_uc010slf.1_Missense_Mutation_p.M329I|ANO6_uc010slg.1_Missense_Mutation_p.M290I	p.M308I	NM_001025356	NP_001020527	Q4KMQ2	ANO6_HUMAN			8	1259	+			308			Helical; (Potential).		A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Missense_Mutation	SNP	ENST00000320560.8	37	c.924G>C	CCDS31782.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.954129	0.92726	.	.	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09	5.26	5.26	0.73747	.	0.040610	0.85682	D	0.000000	T	0.79953	0.4535	M	0.87758	2.905	0.80722	D	1	P;P;P;P	0.52577	0.927;0.786;0.883;0.954	P;P;P;P	0.56434	0.759;0.566;0.625;0.798	T	0.82583	-0.0385	10	0.62326	D	0.03	.	19.7728	0.96373	0.0:0.0:1.0:0.0	.	290;329;308;308	E9PB30;B9EGG0;E9PCT2;Q4KMQ2	.;.;.;ANO6_HUMAN	I	308;329;308;308;290	ENSP00000391417:M308I;ENSP00000409126:M329I;ENSP00000413840:M308I;ENSP00000320087:M308I;ENSP00000413137:M290I	ENSP00000320087:M308I	M	+	3	0	ANO6	44037400	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.801000	0.99128	2.840000	0.97914	0.655000	0.94253	ATG		0.393	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404822.1	XM_113743		18	58	0	0	0	0.002299	0	18	58				
COL2A1	1280	broad.mit.edu	37	12	48381440	48381440	+	Missense_Mutation	SNP	C	C	A	rs201953356		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:48381440C>A	ENST00000380518.3	-	19	1339	c.1175G>T	c.(1174-1176)cGc>cTc	p.R392L	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.R323L	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	392	Triple-helical region.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	AGGTTCACCGCGAGGACCTTG	0.617																																							uc001rqu.2		NA																	0				ovary(1)|skin(1)	2						c.(1174-1176)CGC>CTC		collagen, type II, alpha 1 isoform 1 precursor	Collagenase(DB00048)						62.0	55.0	57.0					12																	48381440		2203	4300	6503	SO:0001583	missense	1280				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	g.chr12:48381440C>A	X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.1175G>T	12.37:g.48381440C>A	ENSP00000369889:p.Arg392Leu					COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Missense_Mutation_p.R323L	p.R392L	NM_001844	NP_001835	P02458	CO2A1_HUMAN			19	1356	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	392			Triple-helical region.		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	ENST00000380518.3	37	c.1175G>T	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.603687	0.66445	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.96041	-3.89;-3.0	3.99	3.99	0.46301	.	0.000000	0.85682	D	0.000000	D	0.94627	0.8268	M	0.71206	2.165	0.54753	D	0.999989	B;B	0.28998	0.193;0.23	B;B	0.31547	0.081;0.132	D	0.94682	0.7866	10	0.87932	D	0	.	16.0882	0.81073	0.0:1.0:0.0:0.0	.	323;392	P02458-1;P02458	.;CO2A1_HUMAN	L	392;323;323	ENSP00000369889:R392L;ENSP00000338213:R323L	ENSP00000338213:R323L	R	-	2	0	COL2A1	46667707	0.070000	0.21116	0.953000	0.39169	0.940000	0.58332	2.498000	0.45363	2.529000	0.85273	0.655000	0.94253	CGC		0.617	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		6	10	1	0	0.000442599	0.006214	0.000487515	6	10				
CCNT1	904	broad.mit.edu	37	12	49088075	49088075	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:49088075T>A	ENST00000261900.3	-	9	1144	c.922A>T	c.(922-924)Agt>Tgt	p.S308C		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	308					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|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)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						GGCACTGCACTTGTGGTAGAA	0.483																																							uc001rse.1		NA																	0				ovary(3)|lung(1)|breast(1)|skin(1)	6						c.(922-924)AGT>TGT		cyclin T1							129.0	113.0	119.0					12																	49088075		2203	4300	6503	SO:0001583	missense	904				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding	g.chr12:49088075T>A	AF048730	CCDS8766.1, CCDS61109.1	12q13.11	2010-11-15			ENSG00000129315	ENSG00000129315			1599	protein-coding gene	gene with protein product		143055	"""human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1"""	HIVE1		9491887, 9499409	Standard	NM_001240		Approved	CCNT, CYCT1	uc001rsd.4	O60563	OTTHUMG00000170393	ENST00000261900.3:c.922A>T	12.37:g.49088075T>A	ENSP00000261900:p.Ser308Cys					LOC144438_uc001rsd.3_5'Flank|CCNT1_uc009zkz.1_Missense_Mutation_p.S23C	p.S308C	NM_001240	NP_001231	O60563	CCNT1_HUMAN			9	1245	-			308					A9XU13|E7EX76|O60581	Missense_Mutation	SNP	ENST00000261900.3	37	c.922A>T	CCDS8766.1	.	.	.	.	.	.	.	.	.	.	T	10.85	1.466243	0.26335	.	.	ENSG00000129315	ENST00000261900	T	0.48836	0.8	4.96	3.78	0.43462	.	0.447759	0.26542	N	0.023781	T	0.31765	0.0807	N	0.08118	0	0.09310	N	1	D	0.52996	0.957	P	0.49047	0.599	T	0.09185	-1.0686	10	0.66056	D	0.02	-0.2663	6.3546	0.21395	0.0:0.2653:0.0:0.7347	.	308	O60563	CCNT1_HUMAN	C	308	ENSP00000261900:S308C	ENSP00000261900:S308C	S	-	1	0	CCNT1	47374342	0.180000	0.23148	0.998000	0.56505	0.544000	0.35116	2.236000	0.43052	0.879000	0.35944	0.402000	0.26972	AGT		0.483	CCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408853.1	NM_001240		14	50	0	0	0	0.003163	0	14	50				
KMT2D	8085	broad.mit.edu	37	12	49438017	49438017	+	Silent	SNP	C	C	A	rs367970485		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:49438017C>A	ENST00000301067.7	-	21	5153	c.5154G>T	c.(5152-5154)gcG>gcT	p.A1718A		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1718					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TCAACACCTCCGCCTGTGCAG	0.617											OREG0021780	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001rta.3		NA								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(5152-5154)GCG>GCT		myeloid/lymphoid or mixed-lineage leukemia 2							47.0	54.0	52.0					12																	49438017		2116	4232	6348	SO:0001819	synonymous_variant	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49438017C>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.5154G>T	12.37:g.49438017C>A		HNSCC(34;0.089)	OREG0021780	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	962		p.A1718A	NM_003482	NP_003473	O14686	MLL2_HUMAN			21	5154	-			1718					O14687	Silent	SNP	ENST00000301067.7	37	c.5154G>T	CCDS44873.1																																																																																				0.617	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			10	16	1	0	0.000442599	0.006214	0.000487515	10	16				
DNAJC22	79962	broad.mit.edu	37	12	49742871	49742871	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:49742871G>T	ENST00000549441.2	+	3	1420	c.216G>T	c.(214-216)gtG>gtT	p.V72V	DNAJC22_ENST00000395069.3_Silent_p.V72V			Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	72						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						CCAGAGGGGTGACACCCCCTC	0.577																																							uc001rua.2		NA																	0				ovary(1)	1						c.(214-216)GTG>GTT		DnaJ (Hsp40) homolog, subfamily C, member 22							95.0	107.0	103.0					12																	49742871		2203	4300	6503	SO:0001819	synonymous_variant	79962				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr12:49742871G>T	AK055747	CCDS8785.1	12q13.12	2011-09-02		2008-07-08	ENSG00000178401	ENSG00000178401		"""Heat shock proteins / DNAJ (HSP40)"""	25802	protein-coding gene	gene with protein product	"""wurst homolog (Drosophila)"""					17558392	Standard	NM_024902		Approved	wus, FLJ13236	uc001rua.3	Q8N4W6		ENST00000549441.2:c.216G>T	12.37:g.49742871G>T						DNAJC22_uc001rub.2_Silent_p.V72V	p.V72V	NM_024902	NP_079178	Q8N4W6	DJC22_HUMAN			2	617	+			72					B3KP54	Silent	SNP	ENST00000549441.2	37	c.216G>T	CCDS8785.1																																																																																				0.577	DNAJC22-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404302.2	NM_024902		24	47	1	0	4.87955e-14	0.005443	7.35147e-14	24	47				
KCNH3	23416	broad.mit.edu	37	12	49951519	49951519	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:49951519C>T	ENST00000257981.6	+	15	3295	c.3035C>T	c.(3034-3036)cCc>cTc	p.P1012L	MCRS1_ENST00000547182.1_5'Flank	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	1012	Pro-rich.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						TGCTCTGAGCCCAGCACCCCT	0.672																																							uc001ruh.1		NA																	0					0						c.(3034-3036)CCC>CTC		potassium voltage-gated channel, subfamily H							33.0	35.0	35.0					12																	49951519		2203	4300	6503	SO:0001583	missense	23416				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	g.chr12:49951519C>T	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.3035C>T	12.37:g.49951519C>T	ENSP00000257981:p.Pro1012Leu					KCNH3_uc010smj.1_Missense_Mutation_p.P952L	p.P1012L	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN			15	3295	+			1012			Pro-rich.|Cytoplasmic (Potential).		Q9UQ06	Missense_Mutation	SNP	ENST00000257981.6	37	c.3035C>T	CCDS8786.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.208952	0.39003	.	.	ENSG00000135519	ENST00000257981	D	0.99399	-5.83	5.02	4.12	0.48240	.	0.179508	0.27379	N	0.019639	D	0.96040	0.8710	N	0.08118	0	0.80722	D	1	P	0.38195	0.622	B	0.31290	0.127	D	0.95769	0.8807	10	0.36615	T	0.2	.	10.5311	0.44977	0.1931:0.8069:0.0:0.0	.	1012	Q9ULD8	KCNH3_HUMAN	L	1012	ENSP00000257981:P1012L	ENSP00000257981:P1012L	P	+	2	0	KCNH3	48237786	0.634000	0.27190	1.000000	0.80357	0.993000	0.82548	1.140000	0.31516	1.305000	0.44909	0.561000	0.74099	CCC		0.672	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	NM_012284		6	23	0	0	0	0.001168	0	6	23				
TFCP2	7024	broad.mit.edu	37	12	51492610	51492610	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:51492610G>T	ENST00000257915.5	-	13	1826	c.1368C>A	c.(1366-1368)agC>agA	p.S456R	TFCP2_ENST00000307660.4_Missense_Mutation_p.S405R|TFCP2_ENST00000549867.1_Missense_Mutation_p.S378R|TFCP2_ENST00000548115.1_Missense_Mutation_p.S405R	NM_001173452.1|NM_005653.4	NP_001166923.1|NP_005644.2	Q12800	TFCP2_HUMAN	transcription factor CP2	456					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						TGTAAATCTGGCTGATCTGGC	0.393																																							uc001rxw.2		NA																	0				ovary(1)	1						c.(1366-1368)AGC>AGA		transcription factor CP2							122.0	111.0	115.0					12																	51492610		2203	4300	6503	SO:0001583	missense	7024				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:51492610G>T	U03494	CCDS8808.1, CCDS55827.1	12q13	2004-01-05				ENSG00000135457			11748	protein-coding gene	gene with protein product		189889				8157699	Standard	NM_005653		Approved	CP2, LSF, LBP-1C, TFCP2C	uc001rxw.3	Q12800	OTTHUMG00000169621	ENST00000257915.5:c.1368C>A	12.37:g.51492610G>T	ENSP00000257915:p.Ser456Arg					TFCP2_uc001rxv.1_Missense_Mutation_p.S456R|TFCP2_uc009zlx.1_Missense_Mutation_p.S405R|TFCP2_uc001rxx.2_Missense_Mutation_p.S378R|TFCP2_uc009zly.1_Missense_Mutation_p.S358R	p.S456R	NM_005653	NP_005644	Q12800	TFCP2_HUMAN			13	1827	-			456					A8K5E9|Q12801|Q9UD75|Q9UD77	Missense_Mutation	SNP	ENST00000257915.5	37	c.1368C>A	CCDS8808.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.236837	0.39498	.	.	ENSG00000135457	ENST00000257915;ENST00000307660;ENST00000549867;ENST00000548115;ENST00000548108	T;T;T;T;T	0.45276	2.24;0.91;2.24;0.9;2.26	5.84	4.74	0.60224	.	0.133372	0.64402	D	0.000001	T	0.32315	0.0825	L	0.43152	1.355	0.41880	D	0.990313	B;P;B;B	0.35908	0.003;0.527;0.04;0.001	B;B;B;B	0.34873	0.006;0.191;0.056;0.003	T	0.06463	-1.0825	10	0.36615	T	0.2	-10.2923	8.9579	0.35829	0.1555:0.0:0.8445:0.0	.	405;378;456;456	Q12800-2;F8VX55;Q12800;Q12800-4	.;.;TFCP2_HUMAN;.	R	456;405;378;405;358	ENSP00000257915:S456R;ENSP00000304411:S405R;ENSP00000449742:S378R;ENSP00000447991:S405R;ENSP00000449280:S358R	ENSP00000257915:S456R	S	-	3	2	TFCP2	49778877	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.096000	0.30976	2.937000	0.99478	0.650000	0.86243	AGC		0.393	TFCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405119.1	NM_005653		7	32	1	0	8.12818e-05	0.001984	9.21236e-05	7	32				
KRT5	3852	broad.mit.edu	37	12	52912779	52912779	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:52912779C>G	ENST00000252242.4	-	2	1111	c.721G>C	c.(721-723)Gac>Cac	p.D241H		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	241	Coil 1B.|Rod.				cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGCTCTGAGTCCAGGCGGCCC	0.577																																							uc001san.2		NA																	0					0						c.(721-723)GAC>CAC		keratin 5							191.0	170.0	177.0					12																	52912779		2203	4300	6503	SO:0001583	missense	3852				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52912779C>G		CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6442	protein-coding gene	gene with protein product		148040	"""epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types"", ""keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"""	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.721G>C	12.37:g.52912779C>G	ENSP00000252242:p.Asp241His					KRT5_uc009zmh.2_Missense_Mutation_p.D241H	p.D241H	NM_000424	NP_000415	P13647	K2C5_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	2	884	-			241			Rod.|Coil 1B.		Q6PI71|Q6UBJ0|Q8TA91	Missense_Mutation	SNP	ENST00000252242.4	37	c.721G>C	CCDS8830.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.71|16.71	3.199897|3.199897	0.58126|0.58126	.|.	.|.	ENSG00000186081|ENSG00000186081	ENST00000252242;ENST00000456000;ENST00000549420|ENST00000551188	D;D|.	0.89485|.	-2.52;-2.52|.	5.31|5.31	5.31|5.31	0.75309|0.75309	Filament (1);|.	0.000000|.	0.64402|.	D|.	0.000016|.	T|T	0.78935|0.78935	0.4362|0.4362	M|M	0.79693|0.79693	2.465|2.465	0.46981|0.46981	D|D	0.999271|0.999271	P|.	0.41080|.	0.737|.	B|.	0.43274|.	0.414|.	T|T	0.78979|0.78979	-0.1990|-0.1990	10|5	0.87932|.	D|.	0|.	.|.	19.1738|19.1738	0.93594|0.93594	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	241|.	P13647|.	K2C5_HUMAN|.	H|C	241;206;131|41	ENSP00000252242:D241H;ENSP00000447209:D131H|.	ENSP00000252242:D241H|.	D|W	-|-	1|3	0|0	KRT5|KRT5	51199046|51199046	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.695000|0.695000	0.40330|0.40330	4.758000|4.758000	0.62220|0.62220	2.764000|2.764000	0.94973|0.94973	0.655000|0.655000	0.94253|0.94253	GAC|TGG		0.577	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1			22	124	0	0	0	0.00278	0	22	124				
KRT79	338785	broad.mit.edu	37	12	53225306	53225306	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:53225306G>T	ENST00000330553.5	-	2	616	c.582C>A	c.(580-582)ctC>ctA	p.L194L		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	194	Linker 1.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGGCCTCAAAGAGGGGCTCCA	0.607																																							uc001sbb.2		NA																	0				ovary(2)|skin(2)	4						c.(580-582)CTC>CTA		keratin 6L							101.0	94.0	96.0					12																	53225306		2203	4300	6503	SO:0001819	synonymous_variant	338785					keratin filament	structural molecule activity	g.chr12:53225306G>T	AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28930	protein-coding gene	gene with protein product	"""keratin 6-like"""	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.582C>A	12.37:g.53225306G>T						KRT79_uc001sba.2_5'Flank	p.L194L	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN			2	615	-			194			Rod.|Linker 1.		Q6P465|Q7Z793	Silent	SNP	ENST00000330553.5	37	c.582C>A	CCDS8839.1																																																																																				0.607	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406376.1	NM_175834		7	64	1	0	1.12685e-05	0.004482	1.32356e-05	7	64				
ATF7	11016	broad.mit.edu	37	12	53911046	53911046	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:53911046G>A	ENST00000548446.2	-	12	1472	c.1360C>T	c.(1360-1362)Cgc>Tgc	p.R454C	ATF7_ENST00000328463.7_Missense_Mutation_p.R454C|ATF7_ENST00000456903.4_Missense_Mutation_p.R443C|RP11-793H13.3_ENST00000548347.1_RNA|ATF7_ENST00000420353.2_Missense_Mutation_p.R443C|RP11-793H13.10_ENST00000591834.1_Intron|ATF7_ENST00000415113.1_Missense_Mutation_p.R422C|ATF7_ENST00000546661.1_5'UTR			P17544	ATF7_HUMAN	activating transcription factor 7	454	Essential for binding adenovirus 2 E1A.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9					Pseudoephedrine(DB00852)	GCTGCAGAGCGAACACTGAGG	0.572																																							uc001sdy.2		NA																	0				ovary(1)|lung(1)	2						c.(1360-1362)CGC>TGC		activating transcription factor 7 isoform 1							92.0	93.0	93.0					12																	53911046		2071	4208	6279	SO:0001583	missense	11016				interspecies interaction between organisms	cytoplasm|nuclear periphery|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:53911046G>A	X52943	CCDS44906.1, CCDS58238.1	12q13	2013-01-10				ENSG00000170653		"""basic leucine zipper proteins"""	792	protein-coding gene	gene with protein product		606371				1694576, 11278933	Standard	NM_006856		Approved	ATFA	uc001sdz.3	P17544	OTTHUMG00000169776	ENST00000548446.2:c.1360C>T	12.37:g.53911046G>A	ENSP00000449938:p.Arg454Cys					ATF7_uc010sok.1_RNA|ATF7_uc001sdz.2_Missense_Mutation_p.R443C|ATF7_uc010sol.1_Missense_Mutation_p.R422C|uc001sdx.2_RNA	p.R454C	NM_001130059	NP_001123531	P17544	ATF7_HUMAN			11	1381	-			454			Essential for binding adenovirus 2 E1A.		A5D6Y4|B2RMP1|B4DQL4|Q13814|Q8IVR8|Q9UD83	Missense_Mutation	SNP	ENST00000548446.2	37	c.1360C>T		.	.	.	.	.	.	.	.	.	.	G	22.4	4.279340	0.80692	.	.	ENSG00000170653	ENST00000548446;ENST00000328463;ENST00000306727;ENST00000415113;ENST00000420353;ENST00000456903	T;T;T;T;T	0.47528	0.84;0.84;0.86;0.84;0.84	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.62171	0.2406	L	0.47716	1.5	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.996	P;D;P	0.75020	0.796;0.985;0.856	T	0.64011	-0.6507	10	0.59425	D	0.04	-28.6275	16.792	0.85591	0.0:0.0:1.0:0.0	.	422;443;454	P17544-2;B2RMP1;P17544	.;.;ATF7_HUMAN	C	454;454;267;422;443;443	ENSP00000449938:R454C;ENSP00000329212:R454C;ENSP00000404880:R422C;ENSP00000399465:R443C;ENSP00000387406:R443C	ENSP00000304187:R267C	R	-	1	0	ATF7	52197313	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.980000	0.63812	2.582000	0.87167	0.555000	0.69702	CGC		0.572	ATF7-007	KNOWN	NMD_exception|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000406302.2	NM_001130059		10	49	0	0	0	0.008291	0	10	49				
HOXC11	3227	broad.mit.edu	37	12	54369071	54369071	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:54369071G>T	ENST00000546378.1	+	2	905	c.789G>T	c.(787-789)ctG>ctT	p.L263L	HOXC11_ENST00000243082.4_Missense_Mutation_p.A265S|HOTAIR_ENST00000455246.1_RNA|HOTAIR_ENST00000424518.1_RNA			O43248	HXC11_HUMAN	homeobox C11	263					anterior/posterior pattern specification (GO:0009952)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal joint morphogenesis (GO:0060272)|endoderm development (GO:0007492)|metanephros development (GO:0001656)|organ induction (GO:0001759)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			large_intestine(1)|ovary(1)	2						AGAAGCGGCTGCAGCTGTCCC	0.502			T	NUP98	AML																																		uc001sem.2		NA		Dom	yes		12	12q13.3	3227	T	homeo box C11			L	NUP98		AML		0				ovary(1)	1						c.(787-789)CTG>CTT		homeobox C11							50.0	58.0	55.0					12																	54369071		2203	4300	6503	SO:0001819	synonymous_variant	3227				endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54369071G>T		CCDS8867.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123388	ENSG00000123388		"""Homeoboxes / ANTP class : HOXL subclass"""	5123	protein-coding gene	gene with protein product		605559	"""homeo box C11"""	HOX3H		1973146, 1358459	Standard	NM_014212		Approved		uc001sem.3	O43248	OTTHUMG00000160011	ENST00000546378.1:c.789G>T	12.37:g.54369071G>T							p.L263L	NM_014212	NP_055027	O43248	HXC11_HUMAN			2	905	+			263			Homeobox.		A8K7D1|Q96DH2	Silent	SNP	ENST00000546378.1	37	c.789G>T	CCDS8867.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.306151	0.23736	.	.	ENSG00000123388	ENST00000243082	T	0.26957	1.7	4.41	4.41	0.53225	.	.	.	.	.	T	0.35451	0.0932	.	.	.	0.29518	N	0.853706	.	.	.	.	.	.	T	0.25572	-1.0128	6	0.72032	D	0.01	.	11.437	0.50074	0.0:0.0:0.8194:0.1806	.	.	.	.	S	265	ENSP00000243082:A265S	ENSP00000243082:A265S	A	+	1	0	HOXC11	52655338	0.989000	0.36119	1.000000	0.80357	0.998000	0.95712	0.141000	0.16076	2.180000	0.69256	0.555000	0.69702	GCA		0.502	HOXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358869.2			6	58	1	0	1.26484e-09	0.00308	1.72553e-09	6	58				
NCKAP1L	3071	broad.mit.edu	37	12	54894400	54894400	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:54894400G>T	ENST00000293373.6	+	3	376	c.297G>T	c.(295-297)atG>atT	p.M99I	RP11-753H16.3_ENST00000550474.1_RNA|NCKAP1L_ENST00000545638.2_Missense_Mutation_p.M49I	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	99					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TGGATGTCATGGAATTTCGGG	0.398																																							uc001sgc.3		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(295-297)ATG>ATT		NCK-associated protein 1-like							155.0	144.0	148.0					12																	54894400		2203	4300	6503	SO:0001583	missense	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54894400G>T	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.297G>T	12.37:g.54894400G>T	ENSP00000293373:p.Met99Ile					NCKAP1L_uc010sox.1_5'UTR|NCKAP1L_uc010soy.1_Missense_Mutation_p.M49I	p.M99I	NM_005337	NP_005328	P55160	NCKPL_HUMAN			3	376	+			99					B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	c.297G>T	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.804005	0.50315	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.33216	1.42;1.42	5.16	5.16	0.70880	.	0.090695	0.85682	D	0.000000	T	0.22627	0.0546	N	0.16656	0.425	0.48341	D	0.999631	B	0.14805	0.011	B	0.15870	0.014	T	0.03433	-1.1037	10	0.51188	T	0.08	-25.7239	16.5054	0.84271	0.0:0.0:1.0:0.0	.	99	P55160	NCKPL_HUMAN	I	99;49	ENSP00000293373:M99I;ENSP00000445596:M49I	ENSP00000293373:M99I	M	+	3	0	NCKAP1L	53180667	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	4.935000	0.63498	2.554000	0.86153	0.460000	0.39030	ATG		0.398	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		16	81	1	0	8.00594e-06	0.007413	9.50106e-06	16	81				
PDE1B	5153	broad.mit.edu	37	12	54968998	54968998	+	Missense_Mutation	SNP	G	G	T	rs143206355		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:54968998G>T	ENST00000243052.3	+	11	1617	c.1181G>T	c.(1180-1182)cGt>cTt	p.R394L	PDE1B_ENST00000550620.1_Missense_Mutation_p.R374L|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Missense_Mutation_p.R353L	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	394	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	GAATTCTTCCGTCAGGTAGCG	0.572																																							uc001sgd.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1180-1182)CGT>CTT		phosphodiesterase 1B isoform 1		G	LEU/ARG,LEU/ARG	0,4406		0,0,2203	153.0	127.0	136.0		1181,1121	5.2	1.0	12	dbSNP_134	136	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PDE1B	NM_000924.3,NM_001165975.2	102,102	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	394/537,374/517	54968998	1,13005	2203	4300	6503	SO:0001583	missense	5153				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:54968998G>T	U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"""Phosphodiesterases"""	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.1181G>T	12.37:g.54968998G>T	ENSP00000243052:p.Arg394Leu					PDE1B_uc010soz.1_Missense_Mutation_p.R257L|PDE1B_uc010spa.1_Missense_Mutation_p.R353L|PDE1B_uc001sgf.2_Missense_Mutation_p.R257L|PDE1B_uc001sge.2_Missense_Mutation_p.R374L|PDE1B_uc009znq.2_Missense_Mutation_p.R190L	p.R394L	NM_000924	NP_000915	Q01064	PDE1B_HUMAN			11	1347	+			394			Catalytic (By similarity).		Q92825|Q96KP3	Missense_Mutation	SNP	ENST00000243052.3	37	c.1181G>T	CCDS8882.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.546437	0.65198	0.0	1.16E-4	ENSG00000123360	ENST00000243052;ENST00000538346;ENST00000550620	T;T;T	0.81078	-1.45;-1.45;-1.45	5.25	5.25	0.73442	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.064498	0.64402	D	0.000014	T	0.81128	0.4758	L	0.55103	1.725	0.80722	D	1	B;B	0.25609	0.107;0.13	B;B	0.37888	0.169;0.26	T	0.76618	-0.2893	10	0.30854	T	0.27	.	16.7112	0.85386	0.0:0.0:1.0:0.0	.	374;394	Q01064-2;Q01064	.;PDE1B_HUMAN	L	394;353;374	ENSP00000243052:R394L;ENSP00000442559:R353L;ENSP00000448519:R374L	ENSP00000243052:R394L	R	+	2	0	PDE1B	53255265	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.471000	0.66762	2.618000	0.88619	0.561000	0.74099	CGT		0.572	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406203.1			17	54	1	0	7.33628e-21	0.002299	1.2285e-20	17	54				
METTL7B	196410	broad.mit.edu	37	12	56075848	56075848	+	Missense_Mutation	SNP	G	G	C	rs141569755		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:56075848G>C	ENST00000394252.3	+	1	519	c.310G>C	c.(310-312)Gag>Cag	p.E104Q		NM_152637.2	NP_689850.2	Q6UX53	MET7B_HUMAN	methyltransferase like 7B	104							methyltransferase activity (GO:0008168)			kidney(1)|large_intestine(1)|lung(4)	6						TCCCCACTTTGAGAAGTTCCT	0.572																																							uc010spr.1		NA																	0					0						c.(310-312)GAG>CAG		methyltransferase like 7B precursor							93.0	84.0	87.0					12																	56075848		2203	4300	6503	SO:0001583	missense	196410						methyltransferase activity	g.chr12:56075848G>C		CCDS8887.2	12q13.2	2012-06-12			ENSG00000170439	ENSG00000170439			28276	protein-coding gene	gene with protein product	"""associated with lipid droplets 1"""					17004324	Standard	NM_152637		Approved	MGC17301, ALDI	uc010spr.2	Q6UX53	OTTHUMG00000152665	ENST00000394252.3:c.310G>C	12.37:g.56075848G>C	ENSP00000377796:p.Glu104Gln						p.E104Q	NM_152637	NP_689850	Q6UX53	MET7B_HUMAN			1	519	+			104					A8K247|Q8WUI1	Missense_Mutation	SNP	ENST00000394252.3	37	c.310G>C	CCDS8887.2	.	.	.	.	.	.	.	.	.	.	G	11.62	1.692235	0.30052	.	.	ENSG00000170439	ENST00000394252	T	0.09255	3.0	4.96	2.1	0.27182	Methyltransferase type 11 (1);	0.321601	0.33959	N	0.004387	T	0.05686	0.0149	N	0.17379	0.485	0.26886	N	0.96744	B	0.23735	0.09	B	0.29267	0.1	T	0.42565	-0.9444	10	0.10377	T	0.69	-7.4986	7.107	0.25368	0.3602:0.0:0.6398:0.0	.	104	Q6UX53	MET7B_HUMAN	Q	104	ENSP00000377796:E104Q	ENSP00000377796:E104Q	E	+	1	0	METTL7B	54362115	0.016000	0.18221	0.991000	0.47740	0.994000	0.84299	0.016000	0.13377	0.685000	0.31468	0.655000	0.94253	GAG		0.572	METTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327271.1	NM_152637		13	17	0	0	0	0.00245	0	13	17				
ANKRD52	283373	broad.mit.edu	37	12	56642588	56642588	+	Silent	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:56642588A>T	ENST00000267116.7	-	16	1780	c.1659T>A	c.(1657-1659)gcT>gcA	p.A553A		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	553										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						CATAGTGCACAGCTGTGTAGC	0.632																																							uc001skm.3		NA																	0				ovary(2)	2						c.(1657-1659)GCT>GCA		ankyrin repeat domain 52							24.0	28.0	26.0					12																	56642588		1917	4112	6029	SO:0001819	synonymous_variant	283373						protein binding	g.chr12:56642588A>T	AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	26614	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit C"""						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.1659T>A	12.37:g.56642588A>T							p.A553A	NM_173595	NP_775866	Q8NB46	ANR52_HUMAN			16	1749	-			553			ANK 16.		A6NE79|B1Q2K2	Silent	SNP	ENST00000267116.7	37	c.1659T>A	CCDS44920.1																																																																																				0.632	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595		9	18	0	0	0	0.00245	0	9	18				
STAT2	6773	broad.mit.edu	37	12	56737841	56737841	+	Silent	SNP	C	C	A	rs374697532		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:56737841C>A	ENST00000314128.4	-	23	2204	c.2181G>T	c.(2179-2181)ctG>ctT	p.L727L	STAT2_ENST00000557235.1_Silent_p.L723L|STAT2_ENST00000556539.1_5'UTR			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	727					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						gctctggcaccagccctagtt	0.572																																							uc001slc.2		NA																	0				ovary(1)|lung(1)|kidney(1)	3						c.(2179-2181)CTG>CTT		signal transducer and activator of transcription							29.0	27.0	28.0					12																	56737841		2203	4300	6503	SO:0001819	synonymous_variant	6773				interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:56737841C>A	BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"""SH2 domain containing"""	11363	protein-coding gene	gene with protein product		600556	"""signal transducer and activator of transcription 2, 113kD"""			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.2181G>T	12.37:g.56737841C>A						STAT2_uc001slb.2_Silent_p.L269L|STAT2_uc001sld.2_Silent_p.L723L	p.L727L	NM_005419	NP_005410	P52630	STAT2_HUMAN			23	2259	-			727					B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Silent	SNP	ENST00000314128.4	37	c.2181G>T	CCDS8917.1																																																																																				0.572	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410277.1	NM_005419		7	4	1	0	0.00198382	0.001984	0.00213454	7	4				
TIMELESS	8914	broad.mit.edu	37	12	56815550	56815550	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:56815550C>A	ENST00000553532.1	-	22	2836	c.2686G>T	c.(2686-2688)Gag>Tag	p.E896*	TIMELESS_ENST00000554616.1_Nonsense_Mutation_p.E393*|TIMELESS_ENST00000229201.4_Nonsense_Mutation_p.E895*					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CGCTGCAGCTCCAACTCCTGA	0.498																																							uc001slf.2		NA																	0				ovary(5)|breast(2)|pancreas(1)	8						c.(2686-2688)GAG>TAG		timeless homolog							127.0	127.0	127.0					12																	56815550		2203	4300	6503	SO:0001587	stop_gained	8914				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		g.chr12:56815550C>A	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.2686G>T	12.37:g.56815550C>A	ENSP00000450607:p.Glu896*						p.E896*	NM_003920	NP_003911	Q9UNS1	TIM_HUMAN			22	2854	-			896						Nonsense_Mutation	SNP	ENST00000553532.1	37	c.2686G>T	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	C	42	9.275810	0.99122	.	.	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	.	.	.	5.29	5.29	0.74685	.	0.178187	0.47455	D	0.000233	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-10.6743	18.0809	0.89441	0.0:1.0:0.0:0.0	.	.	.	.	X	895;896;393	.	ENSP00000229201:E896X	E	-	1	0	TIMELESS	55101817	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.532000	0.67154	2.653000	0.90120	0.555000	0.69702	GAG		0.498	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		21	109	1	0	2.65835e-16	0.007291	4.20976e-16	21	109				
MYO1A	4640	broad.mit.edu	37	12	57435270	57435270	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:57435270C>A	ENST00000442789.2	-	14	1397	c.1110G>T	c.(1108-1110)ggG>ggT	p.G370G	MYO1A_ENST00000544473.1_Silent_p.G208G|MYO1A_ENST00000300119.3_Silent_p.G370G|MYO1A_ENST00000476795.1_5'Flank	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	370	Myosin motor.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						TCTTCTTTTCCCCGATGCCCA	0.537																																							uc001smw.3		NA																	0				skin(4)|ovary(2)|urinary_tract(1)	7						c.(1108-1110)GGG>GGT		myosin IA							134.0	129.0	130.0					12																	57435270		2203	4300	6503	SO:0001819	synonymous_variant	4640				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr12:57435270C>A	L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"""Myosins / Myosin superfamily : Class I"""	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.1110G>T	12.37:g.57435270C>A						MYO1A_uc010sqz.1_Silent_p.G208G|MYO1A_uc009zpd.2_Silent_p.G370G	p.G370G	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN			13	1353	-			370			Myosin head-like.		Q9UQD7	Silent	SNP	ENST00000442789.2	37	c.1110G>T	CCDS8929.1																																																																																				0.537	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379		9	57	1	0	1.58986e-06	0.008291	1.94739e-06	9	57				
KIF5A	3798	broad.mit.edu	37	12	57971847	57971847	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:57971847C>A	ENST00000455537.2	+	22	2691	c.2417C>A	c.(2416-2418)aCg>aAg	p.T806K	KIF5A_ENST00000286452.5_Missense_Mutation_p.T717K	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	806					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CAAGACGTCACGACTCGAGTC	0.532																																							uc001sor.1		NA																	0				ovary(2)|skin(1)	3						c.(2416-2418)ACG>AAG		kinesin family member 5A							109.0	99.0	102.0					12																	57971847		2203	4300	6503	SO:0001583	missense	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57971847C>A	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.2417C>A	12.37:g.57971847C>A	ENSP00000408979:p.Thr806Lys					KIF5A_uc010srr.1_Missense_Mutation_p.T717K	p.T806K	NM_004984	NP_004975	Q12840	KIF5A_HUMAN			22	2625	+			806					A6H8M5|Q4LE26	Missense_Mutation	SNP	ENST00000455537.2	37	c.2417C>A	CCDS8945.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.905353	0.72868	.	.	ENSG00000155980	ENST00000455537;ENST00000286452	T;T	0.73681	-0.77;-0.77	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.73016	0.3533	M	0.68317	2.08	0.80722	D	1	P;B	0.40000	0.698;0.447	B;B	0.40329	0.173;0.326	T	0.69811	-0.5044	10	0.13853	T	0.58	.	17.4939	0.87712	0.0:1.0:0.0:0.0	.	717;806	B7Z2M7;Q12840	.;KIF5A_HUMAN	K	806;717	ENSP00000408979:T806K;ENSP00000286452:T717K	ENSP00000286452:T717K	T	+	2	0	KIF5A	56258114	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.865000	0.69583	2.747000	0.94245	0.462000	0.41574	ACG		0.532	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		21	52	1	0	4.26978e-12	0.00333	6.21857e-12	21	52				
ARHGEF25	115557	broad.mit.edu	37	12	58009028	58009028	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:58009028G>T	ENST00000286494.4	+	11	1429	c.969G>T	c.(967-969)gtG>gtT	p.V323V	AC025165.8_ENST00000444467.1_RNA|AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000593846.1_RNA|ARHGEF25_ENST00000333972.7_Silent_p.V362V|AC025165.8_ENST00000610219.1_RNA	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	323	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.					cytosol (GO:0005829)|myofibril (GO:0030016)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						AGCAAGCTGTGGAGGTCATGT	0.562																																							uc001spb.2		NA																	0					0						c.(967-969)GTG>GTT		RhoA/RAC/CDC42 exchange factor isoform 1							51.0	44.0	46.0					12																	58009028		2203	4300	6503	SO:0001819	synonymous_variant	115557				regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity	g.chr12:58009028G>T		CCDS8947.1, CCDS44931.1	12q13.3	2011-11-16			ENSG00000240771	ENSG00000240771		"""Rho guanine nucleotide exchange factors"""	30275	protein-coding gene	gene with protein product	"""RAC/CDC42 exchange factor"""	610215				12547822	Standard	NM_182947		Approved	GEFT, p63RhoGEF	uc009zpy.4	Q86VW2	OTTHUMG00000152516	ENST00000286494.4:c.969G>T	12.37:g.58009028G>T						GEFT_uc009zpy.2_Silent_p.V362V|GEFT_uc001soz.1_Intron|GEFT_uc001spa.2_Silent_p.V217V|uc001spc.2_RNA|GEFT_uc001spd.2_Silent_p.V28V	p.V323V	NM_182947	NP_891992	Q86VW2	ARHGP_HUMAN			11	1429	+	Melanoma(17;0.122)		323			DH.		A6NJH5|A9CQZ6|F8W7Z4|Q8WV84|Q96E63	Silent	SNP	ENST00000286494.4	37	c.969G>T	CCDS8947.1																																																																																				0.562	ARHGEF25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000326561.1	NM_133483		11	38	1	0	1.58986e-06	0.008291	1.94739e-06	11	38				
USP15	9958	broad.mit.edu	37	12	62715334	62715334	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:62715334G>C	ENST00000280377.5	+	5	623	c.565G>C	c.(565-567)Gaa>Caa	p.E189Q	USP15_ENST00000550632.1_3'UTR|USP15_ENST00000393654.3_Missense_Mutation_p.E189Q|USP15_ENST00000353364.3_Missense_Mutation_p.E189Q|USP15_ENST00000312635.6_Missense_Mutation_p.E189Q	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	189					BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TAACACATTTGAACCACTGAA	0.328																																					Melanoma(181;615 2041 39364 49691 50001)	Melanoma(181;615 2041 39364 49691 50001)	uc001src.1		NA																	0				ovary(2)|lung(1)	3						c.(565-567)GAA>CAA		ubiquitin specific peptidase 15							80.0	80.0	80.0					12																	62715334		2203	4300	6503	SO:0001583	missense	9958				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62715334G>C	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.565G>C	12.37:g.62715334G>C	ENSP00000280377:p.Glu189Gln					USP15_uc001srb.1_Missense_Mutation_p.E189Q|USP15_uc001sra.2_Missense_Mutation_p.E189Q	p.E189Q	NM_006313	NP_006304	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	5	574	+			189					Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	ENST00000280377.5	37	c.565G>C	CCDS58251.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.169596|5.169596	0.94768|0.94768	.|.	.|.	ENSG00000135655|ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000312635;ENST00000393654;ENST00000548836;ENST00000546694|ENST00000549237	T;T;T|.	0.21191|.	2.02;2.02;2.04|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	0.144445|.	0.64402|.	D|.	0.000009|.	T|T	0.76062|0.76062	0.3935|0.3935	M|M	0.71036|0.71036	2.16|2.16	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.997;0.999;0.999|.	T|T	0.74957|0.74957	-0.3487|-0.3487	9|5	.|.	.|.	.|.	-19.4601|-19.4601	19.2123|19.2123	0.93760|0.93760	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	189;189;189|.	Q9Y4E8;Q9Y4E8-2;Q9H8G9|.	UBP15_HUMAN;.;.|.	Q|F	189;189;189;189;135;68|184	ENSP00000258123:E189Q;ENSP00000280377:E189Q;ENSP00000377264:E189Q|.	.|.	E|L	+|+	1|3	0|2	USP15|USP15	61001601|61001601	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.776000|9.776000	0.99001|0.99001	2.542000|2.542000	0.85734|0.85734	0.650000|0.650000	0.86243|0.86243	GAA|TTG		0.328	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		8	25	0	0	0	0.000978	0	8	25				
HELB	92797	broad.mit.edu	37	12	66703861	66703861	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:66703861G>A	ENST00000247815.4	+	4	1212	c.1153G>A	c.(1153-1155)Gtg>Atg	p.V385M		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	385					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		TGTCGAAAAGGTGCTTGCCTC	0.418																																							uc001sti.2		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(1153-1155)GTG>ATG		helicase (DNA) B							198.0	190.0	193.0					12																	66703861		2203	4300	6503	SO:0001583	missense	92797				DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	g.chr12:66703861G>A	AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.1153G>A	12.37:g.66703861G>A	ENSP00000247815:p.Val385Met					HELB_uc010ssz.1_RNA|HELB_uc009zqt.1_RNA	p.V385M	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)	4	1181	+			385					A8K4C9|Q4G0T2|Q9H7L5	Missense_Mutation	SNP	ENST00000247815.4	37	c.1153G>A	CCDS8976.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.442609	0.43326	.	.	ENSG00000127311	ENST00000247815	T	0.56275	0.47	5.87	4.98	0.66077	.	0.195284	0.43110	D	0.000605	T	0.59676	0.2211	M	0.63843	1.955	0.38319	D	0.943463	D	0.59767	0.986	P	0.56216	0.794	T	0.64521	-0.6388	9	.	.	.	-16.4453	7.7915	0.29123	0.1374:0.1444:0.7182:0.0	.	385	Q8NG08	HELB_HUMAN	M	385	ENSP00000247815:V385M	.	V	+	1	0	HELB	64990128	1.000000	0.71417	0.961000	0.40146	0.155000	0.21991	2.254000	0.43214	1.616000	0.50265	0.655000	0.94253	GTG		0.418	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1			28	114	0	0	0	0.007291	0	28	114				
GRIP1	23426	broad.mit.edu	37	12	66786519	66786519	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:66786519G>A	ENST00000398016.3	-	17	2119	c.2051C>T	c.(2050-2052)gCc>gTc	p.A684V	GRIP1_ENST00000359742.4_Missense_Mutation_p.A736V|GRIP1_ENST00000542021.1_5'Flank|GRIP1_ENST00000286445.7_Missense_Mutation_p.A736V	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CAAATGGATGGCTTCACTCAG	0.433																																							uc001stk.2		NA																	0				ovary(2)	2						c.(2050-2052)GCC>GTC		glutamate receptor interacting protein 1							165.0	152.0	156.0					12																	66786519		1880	4117	5997	SO:0001583	missense	23426				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr12:66786519G>A	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.2051C>T	12.37:g.66786519G>A	ENSP00000381098:p.Ala684Val					GRIP1_uc010sta.1_Missense_Mutation_p.A628V|GRIP1_uc001stj.2_Missense_Mutation_p.A466V|GRIP1_uc001stl.1_Missense_Mutation_p.A576V|GRIP1_uc001stm.2_Missense_Mutation_p.A684V	p.A684V	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	17	2292	-			736			PDZ 6.		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000398016.3	37	c.2051C>T	CCDS41807.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.312708|5.312708	0.95655|0.95655	.|.	.|.	ENSG00000155974|ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215|ENST00000538164	T;T;T;T;T;T|.	0.32515|.	1.45;1.45;1.45;1.45;1.45;1.45|.	4.9|4.9	4.9|4.9	0.64082|0.64082	PDZ/DHR/GLGF (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59224|0.59224	0.2178|0.2178	L|L	0.33137|0.33137	0.985|0.985	0.80722|0.80722	D|D	1|1	D;P;D;D|.	0.76494|.	0.993;0.956;0.984;0.999|.	D;D;D;D|.	0.79784|.	0.913;0.953;0.97;0.993|.	T|T	0.53330|0.53330	-0.8454|-0.8454	9|5	.|.	.|.	.|.	-18.647|-18.647	18.6552|18.6552	0.91450|0.91450	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	684;736;684;736|.	F5H4N6;Q9Y3R0;Q9Y3R0-3;Q9Y3R0-2|.	.;GRIP1_HUMAN;.;.|.	V|S	684;736;736;684;628;576|551	ENSP00000381098:A684V;ENSP00000352780:A736V;ENSP00000286445:A736V;ENSP00000446047:A684V;ENSP00000446024:A628V;ENSP00000446011:A576V|.	.|.	A|P	-|-	2|1	0|0	GRIP1|GRIP1	65072786|65072786	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.657000|9.657000	0.98554|0.98554	2.728000|2.728000	0.93425|0.93425	0.462000|0.462000	0.41574|0.41574	GCC|CCA		0.433	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2			13	73	0	0	0	0.001855	0	13	73				
PTPRB	5787	broad.mit.edu	37	12	71003085	71003085	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:71003085G>T	ENST00000261266.5	-	2	118	c.89C>A	c.(88-90)aCc>aAc	p.T30N	PTPRB_ENST00000550358.1_Missense_Mutation_p.T248N|PTPRB_ENST00000334414.6_Missense_Mutation_p.T248N|PTPRB_ENST00000550857.1_Missense_Mutation_p.T30N|PTPRB_ENST00000451516.2_Missense_Mutation_p.T30N|PTPRB_ENST00000551525.1_Missense_Mutation_p.T247N|PTPRB_ENST00000538708.1_Missense_Mutation_p.T30N|PTPRB_ENST00000538174.2_5'UTR	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	30	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CTCCGCCAGGGTGAAGTTACA	0.522																																							uc001swb.3		NA																	0				lung(2)|skin(1)	3						c.(88-90)ACC>AAC		protein tyrosine phosphatase, receptor type, B							43.0	48.0	47.0					12																	71003085		1935	4134	6069	SO:0001583	missense	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71003085G>T	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.89C>A	12.37:g.71003085G>T	ENSP00000261266:p.Thr30Asn					PTPRB_uc010sto.1_Missense_Mutation_p.T30N|PTPRB_uc010stp.1_Missense_Mutation_p.T30N|PTPRB_uc001swc.3_Missense_Mutation_p.T248N|PTPRB_uc001swa.3_Missense_Mutation_p.T248N|PTPRB_uc001swd.3_Missense_Mutation_p.T247N|PTPRB_uc009zrr.1_Missense_Mutation_p.T127N|PTPRB_uc001swe.2_Missense_Mutation_p.T248N	p.T30N	NM_002837	NP_002828	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		2	119	-	Renal(347;0.236)		30			Fibronectin type-III 1.|Extracellular (Potential).		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.89C>A	CCDS44944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.200|3.200	-0.163874|-0.163874	0.06502|0.06502	.|.	.|.	ENSG00000127329|ENSG00000127329	ENST00000547715|ENST00000334414;ENST00000451516;ENST00000550358;ENST00000544694;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	.|T;T;T;T;T;T;T;T	.|0.04603	.|4.13;4.17;4.06;4.19;4.17;4.18;3.59;3.61	4.89|4.89	1.73|1.73	0.24493|0.24493	.|Fibronectin, type III (2);	.|0.122427	.|0.50627	.|D	.|0.000107	T|T	0.02767|0.02767	0.0083|0.0083	N|N	0.25647|0.25647	0.755|0.755	0.09310|0.09310	N|N	0.999994|0.999994	.|B;B;B;B;B;B;B;B	.|0.18310	.|0.024;0.024;0.008;0.027;0.001;0.0;0.0;0.002	.|B;B;B;B;B;B;B;B	.|0.21151	.|0.033;0.033;0.007;0.017;0.002;0.002;0.003;0.006	T|T	0.44605|0.44605	-0.9317|-0.9317	5|10	.|0.14656	.|T	.|0.56	.|.	2.698|2.698	0.05140|0.05140	0.0998:0.1601:0.5103:0.2298|0.0998:0.1601:0.5103:0.2298	.|.	.|30;30;127;248;247;248;30;248	.|P23467-2;F5H3G6;Q6ZR19;Q6ZTX7;F8VSD5;P23467-3;P23467;F8VU56	.|.;.;.;.;.;.;PTPRB_HUMAN;.	Q|N	21|248;30;248;248;30;30;30;247;127	.|ENSP00000334928:T248N;ENSP00000393028:T30N;ENSP00000448058:T248N;ENSP00000438927:T30N;ENSP00000447302:T30N;ENSP00000261266:T30N;ENSP00000448349:T247N;ENSP00000446982:T127N	.|ENSP00000261266:T30N	H|T	-|-	3|2	2|0	PTPRB|PTPRB	69289352|69289352	0.993000|0.993000	0.37304|0.37304	0.613000|0.613000	0.29037|0.29037	0.131000|0.131000	0.20780|0.20780	1.093000|1.093000	0.30939|0.30939	0.622000|0.622000	0.30249|0.30249	0.591000|0.591000	0.81541|0.81541	CAC|ACC		0.522	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			12	34	1	0	0.00244969	0.00245	0.00263201	12	34				
TMEM19	55266	broad.mit.edu	37	12	72094749	72094749	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:72094749G>T	ENST00000266673.5	+	6	1579	c.985G>T	c.(985-987)Gct>Tct	p.A329S		NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	329						integral component of membrane (GO:0016021)				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		CCCAACTGCTGCTTGGGGTTT	0.428																																							uc001sws.2		NA																	0					0						c.(985-987)GCT>TCT		transmembrane protein 19							221.0	201.0	208.0					12																	72094749		2203	4300	6503	SO:0001583	missense	55266					integral to membrane		g.chr12:72094749G>T	BC008596	CCDS9002.1	12q15	2004-03-04				ENSG00000139291			25605	protein-coding gene	gene with protein product						12477932	Standard	NM_018279		Approved	FLJ10936	uc001sws.3	Q96HH6	OTTHUMG00000169558	ENST00000266673.5:c.985G>T	12.37:g.72094749G>T	ENSP00000266673:p.Ala329Ser					TMEM19_uc009zru.1_RNA	p.A329S	NM_018279	NP_060749	Q96HH6	TMM19_HUMAN		GBM - Glioblastoma multiforme(134;0.044)	6	1568	+		Breast(359;0.0889)	329			Helical; (Potential).		B2RDL2|Q53FY3|Q9NV41	Missense_Mutation	SNP	ENST00000266673.5	37	c.985G>T	CCDS9002.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.485529|5.485529	0.96323|0.96323	.|.	.|.	ENSG00000139291|ENSG00000139291	ENST00000266673|ENST00000550787	.|.	.|.	.|.	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73984|0.73984	0.3657|0.3657	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.80764|.	0.994|.	T|T	0.69217|0.69217	-0.5203|-0.5203	9|5	0.45353|.	T|.	0.12|.	-22.9904|-22.9904	20.3465|20.3465	0.98790|0.98790	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	329|.	Q96HH6|.	TMM19_HUMAN|.	S|F	329|144	.|.	ENSP00000266673:A329S|.	A|C	+|+	1|2	0|0	TMEM19|TMEM19	70381016|70381016	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.927000|0.927000	0.56198|0.56198	7.904000|7.904000	0.87408|0.87408	2.798000|2.798000	0.96311|0.96311	0.655000|0.655000	0.94253|0.94253	GCT|TGC		0.428	TMEM19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404801.1	NM_018279		59	126	1	0	2.81305e-35	0.00361	5.10123e-35	59	126				
NAP1L1	4673	broad.mit.edu	37	12	76444424	76444424	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:76444424C>A	ENST00000261182.8	-	12	1432	c.946G>T	c.(946-948)Gct>Tct	p.A316S	NAP1L1_ENST00000549596.1_Missense_Mutation_p.A316S|NAP1L1_ENST00000552342.1_Missense_Mutation_p.A327S|NAP1L1_ENST00000547773.1_Missense_Mutation_p.A253S|NAP1L1_ENST00000544816.1_Missense_Mutation_p.A133S|NAP1L1_ENST00000393263.3_Missense_Mutation_p.A316S|NAP1L1_ENST00000547993.1_Missense_Mutation_p.A133S|NAP1L1_ENST00000542344.1_Missense_Mutation_p.A274S|NAP1L1_ENST00000431879.3_Missense_Mutation_p.A248S|NAP1L1_ENST00000548044.1_Missense_Mutation_p.A275S|NAP1L1_ENST00000535020.2_Missense_Mutation_p.A316S	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	316					DNA replication (GO:0006260)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9		Colorectal(145;0.09)				ATAGCTTCAGCATCATCATCC	0.363																																							uc001sxw.2		NA																	0				ovary(1)|skin(1)	2						c.(946-948)GCT>TCT		nucleosome assembly protein 1-like 1							65.0	62.0	63.0					12																	76444424		2203	4300	6503	SO:0001583	missense	4673				DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding	g.chr12:76444424C>A		CCDS9013.1	12q21.1	2010-03-17			ENSG00000187109	ENSG00000187109			7637	protein-coding gene	gene with protein product		164060				8297347	Standard	NM_004537		Approved	NRP, NAP1, NAP1L, MGC8688, MGC23410	uc001sxx.2	P55209		ENST00000261182.8:c.946G>T	12.37:g.76444424C>A	ENSP00000261182:p.Ala316Ser					NAP1L1_uc001sxv.2_Missense_Mutation_p.A274S|NAP1L1_uc001sxz.2_Missense_Mutation_p.A247S|NAP1L1_uc001sxx.2_Missense_Mutation_p.A316S|NAP1L1_uc001sxy.2_Missense_Mutation_p.A253S|NAP1L1_uc010sty.1_Missense_Mutation_p.A273S|NAP1L1_uc010stz.1_Missense_Mutation_p.A133S|NAP1L1_uc010sua.1_Missense_Mutation_p.A316S|NAP1L1_uc001syb.2_Missense_Mutation_p.A316S|NAP1L1_uc001sya.2_Missense_Mutation_p.A274S|NAP1L1_uc001syc.2_Missense_Mutation_p.A327S	p.A316S	NM_139207	NP_631946	P55209	NP1L1_HUMAN			12	1358	-		Colorectal(145;0.09)	316					B3KNT8	Missense_Mutation	SNP	ENST00000261182.8	37	c.946G>T	CCDS9013.1	.	.	.	.	.	.	.	.	.	.	C	4.773	0.143763	0.09134	.	.	ENSG00000187109	ENST00000261182;ENST00000552056;ENST00000393263;ENST00000431879;ENST00000547773;ENST00000544816;ENST00000542344;ENST00000535020;ENST00000549596;ENST00000547993;ENST00000552342;ENST00000548044	T;T;T;T;T;T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.49	4.59	0.56863	.	0.107189	0.64402	N	0.000004	T	0.23532	0.0569	N	0.12502	0.225	0.44366	D	0.997268	B;B;B;B;B;B;B	0.10296	0.001;0.0;0.0;0.002;0.0;0.0;0.003	B;B;B;B;B;B;B	0.14023	0.006;0.002;0.004;0.01;0.001;0.001;0.006	T	0.07731	-1.0757	10	0.06365	T	0.9	.	14.6888	0.69068	0.2635:0.7365:0.0:0.0	.	316;274;327;316;248;253;316	F5H4R6;B7Z9C2;F8W0J6;B3KNT8;B3KV44;F8W543;P55209	.;.;.;.;.;.;NP1L1_HUMAN	S	316;310;316;248;253;133;274;316;316;133;327;275	ENSP00000261182:A316S;ENSP00000450236:A310S;ENSP00000376947:A316S;ENSP00000409795:A248S;ENSP00000448167:A253S;ENSP00000437507:A133S;ENSP00000444759:A274S;ENSP00000445008:A316S;ENSP00000447793:A316S;ENSP00000448007:A133S;ENSP00000447196:A327S;ENSP00000449649:A275S	ENSP00000261182:A316S	A	-	1	0	NAP1L1	74730691	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.448000	0.52943	1.298000	0.44778	0.585000	0.79938	GCT		0.363	NAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405850.3	NM_139207		13	12	1	0	1.5842e-08	0.001855	2.09024e-08	13	12				
NAV3	89795	broad.mit.edu	37	12	78400474	78400474	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:78400474G>T	ENST00000397909.2	+	8	1329	c.1156G>T	c.(1156-1158)Gag>Tag	p.E386*	NAV3_ENST00000266692.7_Nonsense_Mutation_p.E386*|NAV3_ENST00000228327.6_Nonsense_Mutation_p.E386*|NAV3_ENST00000536525.2_Nonsense_Mutation_p.E386*			Q8IVL0	NAV3_HUMAN	neuron navigator 3	386						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ATCCATGCTTGAGAAATTCAA	0.532										HNSCC(70;0.22)																													uc001syp.2		NA																	0				large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(1156-1158)GAG>TAG		neuron navigator 3							68.0	71.0	70.0					12																	78400474		1976	4146	6122	SO:0001587	stop_gained	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78400474G>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1156G>T	12.37:g.78400474G>T	ENSP00000381007:p.Glu386*	HNSCC(70;0.22)				NAV3_uc001syo.2_Nonsense_Mutation_p.E386*	p.E386*	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			8	1329	+			386					Q8NFW7|Q9Y2E7	Nonsense_Mutation	SNP	ENST00000397909.2	37	c.1156G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.871651|7.871651	0.98537|0.98537	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692|ENST00000550503	.|.	.|.	.|.	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	0.000000|.	0.40385|.	U|.	0.001107|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.87932|.	D|.	0|.	-21.0193|-21.0193	19.9357|19.9357	0.97140|0.97140	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	386|209	.|.	ENSP00000228327:E386X|.	E|X	+|+	1|2	0|2	NAV3|NAV3	76924605|76924605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	9.624000|9.624000	0.98398|0.98398	2.715000|2.715000	0.92844|0.92844	0.655000|0.655000	0.94253|0.94253	GAG|TGA		0.532	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		6	41	1	0	3.59834e-05	0.001168	4.13823e-05	6	41				
NAV3	89795	broad.mit.edu	37	12	78401054	78401054	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:78401054G>T	ENST00000397909.2	+	8	1909	c.1736G>T	c.(1735-1737)tGt>tTt	p.C579F	NAV3_ENST00000266692.7_Missense_Mutation_p.C579F|NAV3_ENST00000228327.6_Missense_Mutation_p.C579F|NAV3_ENST00000536525.2_Missense_Mutation_p.C579F			Q8IVL0	NAV3_HUMAN	neuron navigator 3	579						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GCTTCTAGTTGTCCTGCCCCT	0.507										HNSCC(70;0.22)																													uc001syp.2		NA																	0				large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(1735-1737)TGT>TTT		neuron navigator 3							99.0	97.0	97.0					12																	78401054		1958	4137	6095	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78401054G>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1736G>T	12.37:g.78401054G>T	ENSP00000381007:p.Cys579Phe	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.C579F	p.C579F	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			8	1909	+			579					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.1736G>T		.	.	.	.	.	.	.	.	.	.	G	1.137	-0.650595	0.03506	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T;T	0.58652	0.32;1.81;1.81;1.81;1.71	4.95	3.06	0.35304	.	1.223170	0.06231	U	0.688767	T	0.45377	0.1339	N	0.22421	0.69	0.09310	N	0.999996	B;B	0.13594	0.008;0.002	B;B	0.12156	0.007;0.005	T	0.38950	-0.9637	10	0.62326	D	0.03	-0.8688	7.722	0.28738	0.0835:0.0:0.7498:0.1667	.	579;579	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	F	579	ENSP00000446628:C579F;ENSP00000446132:C579F;ENSP00000381007:C579F;ENSP00000228327:C579F;ENSP00000266692:C579F	ENSP00000228327:C579F	C	+	2	0	NAV3	76925185	0.449000	0.25689	0.000000	0.03702	0.001000	0.01503	1.520000	0.35899	0.460000	0.27045	-0.142000	0.14014	TGT		0.507	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		11	34	1	0	0.000978159	0.000978	0.00106403	11	34				
PPP1R12A	4659	broad.mit.edu	37	12	80214888	80214888	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:80214888T>C	ENST00000450142.2	-	7	1192	c.926A>G	c.(925-927)gAc>gGc	p.D309G	RP11-530C5.2_ENST00000548469.1_RNA|PPP1R12A_ENST00000261207.5_Missense_Mutation_p.D309G|PPP1R12A_ENST00000550107.1_Missense_Mutation_p.D309G|PPP1R12A_ENST00000437004.2_Missense_Mutation_p.D309G|PPP1R12A_ENST00000546369.1_Missense_Mutation_p.D222G	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	309					centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)|regulation of nucleocytoplasmic transport (GO:0046822)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|PTW/PP1 phosphatase complex (GO:0072357)	14-3-3 protein binding (GO:0071889)|enzyme inhibitor activity (GO:0004857)|phosphatase regulator activity (GO:0019208)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						CTGATTATTGTCCATATTTGC	0.318																																							uc001syz.2		NA																	0				ovary(2)|breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(925-927)GAC>GGC		protein phosphatase 1, regulatory (inhibitor)							195.0	181.0	185.0					12																	80214888		1815	4074	5889	SO:0001583	missense	4659					contractile fiber	protein binding|signal transducer activity	g.chr12:80214888T>C	D87930	CCDS44947.1, CCDS44948.1, CCDS58259.1, CCDS58260.1	12q15-q21	2013-01-18	2011-10-04	2001-08-10	ENSG00000058272	ENSG00000058272		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7618	protein-coding gene	gene with protein product	"""myosin phosphatase-targeting subunit 1"", ""myosin binding subunit"""	602021	"""protein phosphatase 1, regulatory (inhibitor) subunit 12A"""	MYPT1		9286714	Standard	NM_002480		Approved	MBS, M130	uc001syz.3	O14974	OTTHUMG00000170100	ENST00000450142.2:c.926A>G	12.37:g.80214888T>C	ENSP00000389168:p.Asp309Gly					PPP1R12A_uc010suc.1_Missense_Mutation_p.D222G|PPP1R12A_uc001sza.2_Missense_Mutation_p.D309G|PPP1R12A_uc010sud.1_Missense_Mutation_p.D309G|PPP1R12A_uc001szb.2_Missense_Mutation_p.D309G|PPP1R12A_uc001szc.2_Missense_Mutation_p.D309G	p.D309G	NM_002480	NP_002471	O14974	MYPT1_HUMAN			7	1193	-			309					B4DZ09|F8VWB4|Q2NKL4|Q569H0|Q86WU3|Q8NFR6|Q9BYH0	Missense_Mutation	SNP	ENST00000450142.2	37	c.926A>G	CCDS44947.1	.	.	.	.	.	.	.	.	.	.	T	16.54	3.151471	0.57151	.	.	ENSG00000058272	ENST00000261207;ENST00000546189;ENST00000360825;ENST00000341878;ENST00000312727;ENST00000450142;ENST00000437004;ENST00000546369;ENST00000550107;ENST00000547330;ENST00000547131	T;T;T;T;T;T;T	0.52057	1.16;1.16;1.18;1.14;1.15;1.14;0.68	5.79	5.79	0.91817	.	0.201310	0.51477	D	0.000085	T	0.56455	0.1986	L	0.47716	1.5	0.54753	D	0.999982	D;B;B;P	0.63880	0.993;0.079;0.137;0.457	P;B;B;B	0.60789	0.879;0.025;0.084;0.112	T	0.54077	-0.8347	10	0.35671	T	0.21	.	12.0331	0.53410	0.0:0.0:0.1439:0.8561	.	309;309;309;309	F8W8Q6;O14974-2;O14974-3;O14974	.;.;.;MYPT1_HUMAN	G	309;309;309;309;309;309;309;222;309;309;4	ENSP00000261207:D309G;ENSP00000389168:D309G;ENSP00000416769:D309G;ENSP00000449514:D222G;ENSP00000446855:D309G;ENSP00000446816:D309G;ENSP00000450061:D4G	ENSP00000261207:D309G	D	-	2	0	PPP1R12A	78739019	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.824000	0.69279	2.186000	0.69663	0.533000	0.62120	GAC		0.318	PPP1R12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407254.2	NM_002480		20	75	0	0	0	0.004656	0	20	75				
MYF5	4617	broad.mit.edu	37	12	81111177	81111177	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:81111177C>A	ENST00000228644.3	+	1	487	c.335C>A	c.(334-336)aCc>aAc	p.T112N		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	112	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				camera-type eye development (GO:0043010)|cartilage condensation (GO:0001502)|embryonic skeletal system morphogenesis (GO:0048704)|extracellular matrix organization (GO:0030198)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle tissue morphogenesis (GO:0060415)|ossification (GO:0001503)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)	p.T112N(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						TGTACCACGACCAACCCCAAC	0.592																																							uc001szg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(334-336)ACC>AAC		myogenic factor 5							77.0	72.0	74.0					12																	81111177		2203	4300	6503	SO:0001583	missense	4617				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr12:81111177C>A		CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049		"""Basic helix-loop-helix proteins"""	7565	protein-coding gene	gene with protein product		159990				8978788, 12105204	Standard	NM_005593		Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.335C>A	12.37:g.81111177C>A	ENSP00000228644:p.Thr112Asn						p.T112N	NM_005593	NP_005584	P13349	MYF5_HUMAN			1	470	+			112			Helix-loop-helix motif.		Q6ISR9	Missense_Mutation	SNP	ENST00000228644.3	37	c.335C>A	CCDS9020.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.956932	0.53293	.	.	ENSG00000111049	ENST00000228644	D	0.98028	-4.67	6.06	6.06	0.98353	Helix-loop-helix DNA-binding (5);	0.145914	0.64402	D	0.000009	D	0.95689	0.8598	L	0.37697	1.125	0.46631	D	0.99913	B	0.27910	0.193	B	0.31390	0.129	D	0.93227	0.6614	10	0.42905	T	0.14	-16.3297	16.8219	0.85748	0.0:0.8717:0.1283:0.0	.	112	P13349	MYF5_HUMAN	N	112	ENSP00000228644:T112N	ENSP00000228644:T112N	T	+	2	0	MYF5	79635308	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.637000	0.61346	2.882000	0.98803	0.655000	0.94253	ACC		0.592	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407757.1	NM_005593		16	30	1	0	2.39187e-15	0.008871	3.71838e-15	16	30				
ACSS3	79611	broad.mit.edu	37	12	81472085	81472085	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:81472085C>T	ENST00000548058.1	+	1	1096	c.186C>T	c.(184-186)taC>taT	p.Y62Y	ACSS3_ENST00000261206.3_Silent_p.Y62Y			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	62						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GCAGCGAGTACAAGACCCACT	0.682																																							uc001szl.1		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(184-186)TAC>TAT		acyl-CoA synthetase short-chain family member 3							25.0	24.0	24.0					12																	81472085		2077	4114	6191	SO:0001819	synonymous_variant	79611					mitochondrion	acetate-CoA ligase activity|ATP binding	g.chr12:81472085C>T		CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.186C>T	12.37:g.81472085C>T						ACSS3_uc001szm.1_Silent_p.Y62Y	p.Y62Y	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN			1	277	+			62					Q8NC66	Silent	SNP	ENST00000548058.1	37	c.186C>T	CCDS9022.1																																																																																				0.682	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	NM_024560		9	21	0	0	0	0.008291	0	9	21				
FGD6	55785	broad.mit.edu	37	12	95535258	95535258	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:95535258C>A	ENST00000343958.4	-	6	2966	c.2743G>T	c.(2743-2745)Gac>Tac	p.D915Y	FGD6_ENST00000546711.1_Missense_Mutation_p.D915Y|FGD6_ENST00000549499.1_Missense_Mutation_p.D915Y	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	915	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						AGAATCCGGTCCTCAATCACT	0.448																																							uc001tdp.3		NA																	0				ovary(2)|breast(1)	3						c.(2743-2745)GAC>TAC		FYVE, RhoGEF and PH domain containing 6							127.0	115.0	119.0					12																	95535258		2203	4300	6503	SO:0001583	missense	55785				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:95535258C>A	AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.2743G>T	12.37:g.95535258C>A	ENSP00000344446:p.Asp915Tyr					FGD6_uc009zsx.2_Missense_Mutation_p.D48Y	p.D915Y	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN			6	2967	-			915			DH.		Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	ENST00000343958.4	37	c.2743G>T	CCDS31878.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.650240	0.87958	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	T;T;T	0.63744	-0.06;-0.06;-0.06	5.66	5.66	0.87406	Dbl homology (DH) domain (5);	0.000000	0.51477	D	0.000094	T	0.76478	0.3993	L	0.49571	1.57	0.58432	D	0.999999	D	0.89917	1.0	D	0.79108	0.992	T	0.77558	-0.2543	10	0.87932	D	0	-17.5345	19.7628	0.96329	0.0:1.0:0.0:0.0	.	915	Q6ZV73	FGD6_HUMAN	Y	915	ENSP00000344446:D915Y;ENSP00000450342:D915Y;ENSP00000449005:D915Y	ENSP00000344446:D915Y	D	-	1	0	FGD6	94059389	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	5.703000	0.68340	2.653000	0.90120	0.563000	0.77884	GAC		0.448	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351		8	38	1	0	2.17888e-05	0.006214	2.52532e-05	8	38				
NR1H4	9971	broad.mit.edu	37	12	100926248	100926248	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:100926248G>C	ENST00000551379.1	+	3	516	c.488G>C	c.(487-489)aGa>aCa	p.R163T	NR1H4_ENST00000548884.1_Missense_Mutation_p.R153T|NR1H4_ENST00000549996.1_Intron|NR1H4_ENST00000188403.7_Missense_Mutation_p.R163T|NR1H4_ENST00000392986.3_Missense_Mutation_p.R153T			Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	163					bile acid metabolic process (GO:0008206)|cellular response to acid chemical (GO:0071229)|cellular response to organonitrogen compound (GO:0071417)|digestive tract development (GO:0048565)|gene expression (GO:0010467)|intracellular bile acid receptor signaling pathway (GO:0038185)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitrogen catabolite activation of transcription from RNA polymerase II promoter (GO:0001080)|positive regulation of ammonia assimilation cycle (GO:2001250)|positive regulation of glutamate metabolic process (GO:2000213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of carbohydrate metabolic process (GO:0006109)|regulation of cholesterol metabolic process (GO:0090181)|regulation of urea metabolic process (GO:0034255)|response to glucose (GO:0009749)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)	bile acid binding (GO:0032052)|bile acid receptor activity (GO:0038181)|chenodeoxycholic acid binding (GO:1902122)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor binding (GO:0016922)|peptide binding (GO:0042277)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44					Chenodeoxycholic acid(DB06777)	TTCTTCAGGAGAAGCATTACC	0.423																																							uc001tht.1		NA																	0				ovary(1)|lung(1)|skin(1)	3						c.(487-489)AGA>ACA		nuclear receptor subfamily 1, group H, member 4							113.0	109.0	111.0					12																	100926248		2203	4300	6503	SO:0001583	missense	9971				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr12:100926248G>C	U68233	CCDS9078.1, CCDS55873.1, CCDS55874.1, CCDS55875.1, CCDS55876.1	12q23.1	2013-01-16				ENSG00000012504		"""Nuclear hormone receptors"""	7967	protein-coding gene	gene with protein product		603826				7774010, 9223286	Standard	NM_001206977		Approved	FXR, RIP14, HRR1, HRR-1	uc001tht.2	Q96RI1	OTTHUMG00000170359	ENST00000551379.1:c.488G>C	12.37:g.100926248G>C	ENSP00000447149:p.Arg163Thr					NR1H4_uc001thp.1_Missense_Mutation_p.R153T|NR1H4_uc001thq.1_Missense_Mutation_p.R153T|NR1H4_uc010svj.1_RNA|NR1H4_uc001thr.1_Missense_Mutation_p.R153T|NR1H4_uc010svk.1_Intron|NR1H4_uc001ths.1_Missense_Mutation_p.R163T	p.R163T	NM_005123	NP_005114	Q96RI1	NR1H4_HUMAN			3	516	+			163			Nuclear receptor.		A1L4K5|B7Z412|B7ZM06|F8VYG8|Q8NFP5|Q8NFP6|Q92943	Missense_Mutation	SNP	ENST00000551379.1	37	c.488G>C	CCDS55876.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.350742	0.82132	.	.	ENSG00000012504	ENST00000548884;ENST00000392986;ENST00000551379;ENST00000188403	D;D;D;D	0.98978	-5.29;-5.29;-5.29;-5.29	5.66	5.66	0.87406	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.99750	0.9900	H	0.99884	4.89	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.997;0.998;1.0	D	0.96739	0.9545	10	0.87932	D	0	.	19.7423	0.96237	0.0:0.0:1.0:0.0	.	163;163;153;153	Q96RI1;Q96RI1-4;F1DAL1;B6ZGS9	NR1H4_HUMAN;.;.;.	T	153;153;163;163	ENSP00000448506:R153T;ENSP00000376712:R153T;ENSP00000447149:R163T;ENSP00000188403:R163T	ENSP00000188403:R163T	R	+	2	0	NR1H4	99450379	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.461000	0.97646	2.676000	0.91093	0.555000	0.69702	AGA		0.423	NR1H4-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409140.1	NM_005123		6	37	0	0	0	0.00308	0	6	37				
NR1H4	9971	broad.mit.edu	37	12	100926300	100926300	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:100926300G>A	ENST00000551379.1	+	3	568	c.540G>A	c.(538-540)gtG>gtA	p.V180V	NR1H4_ENST00000548884.1_Silent_p.V170V|NR1H4_ENST00000549996.1_Intron|NR1H4_ENST00000188403.7_Silent_p.V180V|NR1H4_ENST00000392986.3_Silent_p.V170V			Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	180					bile acid metabolic process (GO:0008206)|cellular response to acid chemical (GO:0071229)|cellular response to organonitrogen compound (GO:0071417)|digestive tract development (GO:0048565)|gene expression (GO:0010467)|intracellular bile acid receptor signaling pathway (GO:0038185)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitrogen catabolite activation of transcription from RNA polymerase II promoter (GO:0001080)|positive regulation of ammonia assimilation cycle (GO:2001250)|positive regulation of glutamate metabolic process (GO:2000213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of carbohydrate metabolic process (GO:0006109)|regulation of cholesterol metabolic process (GO:0090181)|regulation of urea metabolic process (GO:0034255)|response to glucose (GO:0009749)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)	bile acid binding (GO:0032052)|bile acid receptor activity (GO:0038181)|chenodeoxycholic acid binding (GO:1902122)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor binding (GO:0016922)|peptide binding (GO:0042277)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44					Chenodeoxycholic acid(DB06777)	GCAACTGTGTGATGGATATGT	0.413																																							uc001tht.1		NA																	0				ovary(1)|lung(1)|skin(1)	3						c.(538-540)GTG>GTA		nuclear receptor subfamily 1, group H, member 4							200.0	179.0	186.0					12																	100926300		2203	4300	6503	SO:0001819	synonymous_variant	9971				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr12:100926300G>A	U68233	CCDS9078.1, CCDS55873.1, CCDS55874.1, CCDS55875.1, CCDS55876.1	12q23.1	2013-01-16				ENSG00000012504		"""Nuclear hormone receptors"""	7967	protein-coding gene	gene with protein product		603826				7774010, 9223286	Standard	NM_001206977		Approved	FXR, RIP14, HRR1, HRR-1	uc001tht.2	Q96RI1	OTTHUMG00000170359	ENST00000551379.1:c.540G>A	12.37:g.100926300G>A						NR1H4_uc001thp.1_Silent_p.V170V|NR1H4_uc001thq.1_Silent_p.V170V|NR1H4_uc010svj.1_RNA|NR1H4_uc001thr.1_Silent_p.V170V|NR1H4_uc010svk.1_Intron|NR1H4_uc001ths.1_Silent_p.V180V	p.V180V	NM_005123	NP_005114	Q96RI1	NR1H4_HUMAN			3	568	+			180			NR C4-type.|Nuclear receptor.		A1L4K5|B7Z412|B7ZM06|F8VYG8|Q8NFP5|Q8NFP6|Q92943	Silent	SNP	ENST00000551379.1	37	c.540G>A	CCDS55876.1																																																																																				0.413	NR1H4-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409140.1	NM_005123		9	69	0	0	0	0.000978	0	9	69				
OAS2	4939	broad.mit.edu	37	12	113448195	113448195	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:113448195G>T	ENST00000342315.4	+	11	2280	c.2066G>T	c.(2065-2067)gGa>gTa	p.G689V	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000392583.2_3'UTR	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	689					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CAGACACCAGGAAGTTGTGGA	0.383																																					Pancreas(199;709 2232 18410 33584 35052)	Pancreas(199;709 2232 18410 33584 35052)	uc001tuj.2		NA																	0				ovary(1)	1						c.(2065-2067)GGA>GTA		2'-5'-oligoadenylate synthetase 2 isoform 1							264.0	274.0	271.0					12																	113448195		2203	4300	6503	SO:0001583	missense	4939				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113448195G>T	M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"""2'-5'-oligoadenylate synthetase 2 (69-71 kD)"""			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.2066G>T	12.37:g.113448195G>T	ENSP00000342278:p.Gly689Val					OAS2_uc001tui.1_3'UTR	p.G689V	NM_016817	NP_058197	P29728	OAS2_HUMAN			11	2206	+			689					A8K9T1|Q6PJ33|Q86XX8	Missense_Mutation	SNP	ENST00000342315.4	37	c.2066G>T	CCDS31906.1	.	.	.	.	.	.	.	.	.	.	.	10.51	1.369031	0.24771	.	.	ENSG00000111335	ENST00000342315	T	0.11063	2.81	4.01	0.986	0.19784	.	1.862600	0.03219	N	0.177207	T	0.15609	0.0376	L	0.29908	0.895	0.25614	N	0.986466	D	0.63880	0.993	P	0.54856	0.762	T	0.12293	-1.0553	10	0.72032	D	0.01	-32.2819	4.4816	0.11769	0.2071:0.1822:0.6107:0.0	.	689	P29728	OAS2_HUMAN	V	689	ENSP00000342278:G689V	ENSP00000342278:G689V	G	+	2	0	OAS2	111932578	0.537000	0.26386	0.068000	0.19968	0.007000	0.05969	0.406000	0.21032	0.084000	0.17077	0.563000	0.77884	GGA		0.383	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405937.1			69	152	1	0	1.50986e-39	0.00361	2.76498e-39	69	152				
TCTN2	79867	broad.mit.edu	37	12	124172603	124172603	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:124172603C>T	ENST00000303372.5	+	7	898	c.770C>T	c.(769-771)cCc>cTc	p.P257L	TCTN2_ENST00000426174.2_Missense_Mutation_p.P256L	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	257					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		TTCAGTTCCCCCAAACAGGAC	0.363																																							uc001ufp.2		NA																	0				ovary(1)	1						c.(769-771)CCC>CTC		tectonic family member 2 isoform 1							120.0	127.0	125.0					12																	124172603		2203	4300	6503	SO:0001583	missense	79867				cilium assembly|smoothened signaling pathway	integral to membrane		g.chr12:124172603C>T	AK056924	CCDS9253.1, CCDS45007.1	12q24.31	2011-04-12	2007-08-20	2007-08-20	ENSG00000168778	ENSG00000168778		"""Tectonic proteins"""	25774	protein-coding gene	gene with protein product	"""Meckel syndrome, type 8"""	613846	"""chromosome 12 open reading frame 38"""	C12orf38		21462283	Standard	NM_024809		Approved	FLJ12975, TECT2, MKS8	uc001ufp.3	Q96GX1	OTTHUMG00000168700	ENST00000303372.5:c.770C>T	12.37:g.124172603C>T	ENSP00000304941:p.Pro257Leu					TCTN2_uc009zya.2_Missense_Mutation_p.P256L	p.P257L	NM_024809	NP_079085	Q96GX1	TECT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)	7	898	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		257			Extracellular (Potential).		A8K7Y8|B3KPW5|Q9H966	Missense_Mutation	SNP	ENST00000303372.5	37	c.770C>T	CCDS9253.1	.	.	.	.	.	.	.	.	.	.	c	10.77	1.443442	0.25987	.	.	ENSG00000168778	ENST00000426174;ENST00000303372	D;D	0.82803	-1.65;-1.65	5.6	-1.27	0.09347	Domain of unknown function DUF1619 (1);	0.697227	0.13869	N	0.357109	T	0.69079	0.3071	L	0.45581	1.43	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.10450	0.005;0.005	T	0.49428	-0.8941	10	0.11485	T	0.65	-32.5559	3.2952	0.06964	0.3266:0.4361:0.1063:0.1309	.	256;257	A8K7Y8;Q96GX1	.;TECT2_HUMAN	L	256;257	ENSP00000395171:P256L;ENSP00000304941:P257L	ENSP00000304941:P257L	P	+	2	0	TCTN2	122738556	0.000000	0.05858	0.002000	0.10522	0.021000	0.10359	0.587000	0.23909	0.032000	0.15435	0.639000	0.83563	CCC		0.363	TCTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400652.1	NM_024809		13	59	0	0	0	0.004007	0	13	59				
DNAH10	196385	broad.mit.edu	37	12	124403315	124403315	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:124403315C>A	ENST00000409039.3	+	64	10996	c.10971C>A	c.(10969-10971)atC>atA	p.I3657I		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3657					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGGGGGCCATCCTGTTCTTCG	0.567																																							uc001uft.3		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(10969-10971)ATC>ATA		dynein, axonemal, heavy chain 10							47.0	50.0	49.0					12																	124403315		1975	4145	6120	SO:0001819	synonymous_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124403315C>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.10971C>A	12.37:g.124403315C>A							p.I3657I	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	64	10996	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		3657					C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	c.10971C>A	CCDS9255.2																																																																																				0.567	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			10	19	1	0	0.000673444	0.008291	0.000735791	10	19				
FZD10	11211	broad.mit.edu	37	12	130648479	130648479	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:130648479C>A	ENST00000229030.4	+	1	1476	c.992C>A	c.(991-993)aCg>aAg	p.T331K	FZD10_ENST00000539839.1_Missense_Mutation_p.H298Q|FZD10-AS1_ENST00000505807.2_RNA			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	331					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		GTGGTCCTCACGCTCACCTGG	0.647																																							uc001uii.2		NA																	0				lung(3)|breast(1)|central_nervous_system(1)	5						c.(991-993)ACG>AAG		frizzled 10 precursor							55.0	50.0	52.0					12																	130648479		2203	4300	6503	SO:0001583	missense	11211				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr12:130648479C>A	AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4039	protein-coding gene	gene with protein product		606147	"""frizzled (Drosophila) homolog 10"", ""frizzled homolog 10 (Drosophila)"", ""frizzled 10, seven transmembrane spanning receptor"", ""frizzled family receptor 10"""			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.992C>A	12.37:g.130648479C>A	ENSP00000229030:p.Thr331Lys					uc001uig.1_5'Flank|uc001uih.1_5'Flank	p.T331K	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)	1	1448	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		331			Helical; Name=3; (Potential).			Missense_Mutation	SNP	ENST00000229030.4	37	c.992C>A	CCDS9267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.68|13.68	2.310717|2.310717	0.40895|0.40895	.|.	.|.	ENSG00000111432|ENSG00000111432	ENST00000539839|ENST00000229030	.|T	.|0.45668	.|0.89	5.1|5.1	5.1|5.1	0.69264|0.69264	.|GPCR, family 2-like (1);	.|0.000000	.|0.85682	.|U	.|0.000000	T|T	0.74535|0.74535	0.3729|0.3729	M|M	0.93763|0.93763	3.455|3.455	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	T|T	0.82581|0.82581	-0.0386|-0.0386	6|10	0.87932|0.87932	D|D	0|0	.|.	18.5184|18.5184	0.90943|0.90943	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|331	.|Q9ULW2	.|FZD10_HUMAN	Q|K	298|331	.|ENSP00000229030:T331K	ENSP00000438460:H298Q|ENSP00000229030:T331K	H|T	+|+	3|2	2|0	FZD10|FZD10	129214432|129214432	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.941000|0.941000	0.58515|0.58515	7.644000|7.644000	0.83416|0.83416	2.374000|2.374000	0.81015|0.81015	0.561000|0.561000	0.74099|0.74099	CAC|ACG		0.647	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				8	31	1	0	0.000274275	0.004482	0.000304364	8	31				
GPR133	283383	broad.mit.edu	37	12	131593298	131593298	+	Silent	SNP	A	A	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:131593298A>G	ENST00000261654.5	+	18	2476	c.1917A>G	c.(1915-1917)ctA>ctG	p.L639L	GPR133_ENST00000376682.4_Silent_p.L325L|GPR133_ENST00000535015.1_Silent_p.L671L|GPR133_ENST00000543617.1_Silent_p.L158L	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	639					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CCGTGCTCCTACACTACTTCT	0.587																																							uc001uit.3		NA																	0				pancreas(5)|ovary(3)|skin(2)	10						c.(1915-1917)CTA>CTG		G protein-coupled receptor 133 precursor							229.0	210.0	216.0					12																	131593298		2203	4300	6503	SO:0001819	synonymous_variant	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131593298A>G	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.1917A>G	12.37:g.131593298A>G						GPR133_uc010tbm.1_Silent_p.L671L|GPR133_uc009zyo.2_Intron|GPR133_uc001uiv.1_Silent_p.L158L|GPR133_uc009zyp.2_RNA	p.L639L	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	18	2476	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		639			Helical; Name=3; (Potential).		B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Silent	SNP	ENST00000261654.5	37	c.1917A>G	CCDS9272.1																																																																																				0.587	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		65	152	0	0	0	0.00361	0	65	152				
SFSWAP	6433	broad.mit.edu	37	12	132262653	132262653	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:132262653C>T	ENST00000261674.4	+	14	2327	c.2186C>T	c.(2185-2187)cCt>cTt	p.P729L	SFSWAP_ENST00000541286.1_Missense_Mutation_p.P729L	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	729					mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						GGAGGCAGGCCTCTGCCTACT	0.433																																							uc001uja.1		NA																	0					0						c.(2185-2187)CCT>CTT		splicing factor, arginine/serine-rich 8							43.0	46.0	45.0					12																	132262653		2203	4300	6503	SO:0001583	missense	6433				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding	g.chr12:132262653C>T	U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)"", ""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)"", ""splicing factor, suppressor of white-apricot homolog (Drosophila)"""	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.2186C>T	12.37:g.132262653C>T	ENSP00000261674:p.Pro729Leu					SFRS8_uc010tbn.1_Missense_Mutation_p.P729L|SFRS8_uc001ujb.1_Missense_Mutation_p.P522L	p.P729L	NM_004592	NP_004583	Q12872	SFSWA_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05)	14	2326	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		729					B2RN45|B7ZM97|F5H6B8|Q6PJF7	Missense_Mutation	SNP	ENST00000261674.4	37	c.2186C>T	CCDS9273.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.68|16.68	3.190905|3.190905	0.58017|0.58017	.|.	.|.	ENSG00000061936|ENSG00000061936	ENST00000537164|ENST00000261674;ENST00000535236;ENST00000541286	.|T;T;T	.|0.22539	.|2.89;1.95;2.9	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	.|0.706748	.|0.14885	.|N	.|0.292736	T|T	0.18215|0.18215	0.0437|0.0437	L|L	0.36672|0.36672	1.1|1.1	0.26816|0.26816	N|N	0.968888|0.968888	.|B;B	.|0.27068	.|0.167;0.02	.|B;B	.|0.24394	.|0.053;0.01	T|T	0.09662|0.09662	-1.0664|-1.0664	5|10	.|0.27785	.|T	.|0.31	-3.4684|-3.4684	13.1441|13.1441	0.59450|0.59450	0.0:0.9272:0.0:0.0728|0.0:0.9272:0.0:0.0728	.|.	.|729;729	.|F5H6B8;Q12872	.|.;SFSWA_HUMAN	F|L	292|729;522;729	.|ENSP00000261674:P729L;ENSP00000443045:P522L;ENSP00000437738:P729L	.|ENSP00000261674:P729L	L|P	+|+	1|2	0|0	SFSWAP|SFSWAP	130828606|130828606	0.020000|0.020000	0.18652|0.18652	0.371000|0.371000	0.25978|0.25978	0.917000|0.917000	0.54804|0.54804	2.832000|2.832000	0.48152|0.48152	2.706000|2.706000	0.92434|0.92434	0.655000|0.655000	0.94253|0.94253	CTC|CCT		0.433	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399276.1	NM_004592		5	29	0	0	0	0.001168	0	5	29				
POLE	5426	broad.mit.edu	37	12	133212492	133212492	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:133212492T>C	ENST00000320574.5	-	42	5840	c.5797A>G	c.(5797-5799)Att>Gtt	p.I1933V	POLE_ENST00000535270.1_Missense_Mutation_p.I1906V|POLE_ENST00000434528.3_5'UTR	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1933					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	CCACAGTGAATACGAGATGAA	0.517								DNA polymerases (catalytic subunits)																															uc001uks.1		NA																	0				ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.(5797-5799)ATT>GTT	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase epsilon							97.0	95.0	96.0					12																	133212492		2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133212492T>C		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.5797A>G	12.37:g.133212492T>C	ENSP00000322570:p.Ile1933Val					POLE_uc001ukq.1_Missense_Mutation_p.I143V|POLE_uc001ukr.1_Missense_Mutation_p.I737V|POLE_uc010tbq.1_RNA	p.I1933V	NM_006231	NP_006222	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	42	5841	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	1933					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.5797A>G	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	T	4.798	0.148375	0.09134	.	.	ENSG00000177084	ENST00000434528;ENST00000320574;ENST00000455752;ENST00000535270	T;T;T	0.02498	4.27;4.27;4.27	4.95	-4.27	0.03744	.	0.621353	0.17854	N	0.159760	T	0.01156	0.0038	N	0.02736	-0.51	0.21675	N	0.999593	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43130	-0.9410	10	0.09084	T	0.74	.	12.9457	0.58371	0.0:0.4008:0.0:0.5992	.	1933;143	Q07864;B3KS74	DPOE1_HUMAN;.	V	143;1933;1944;1906	ENSP00000322570:I1933V;ENSP00000406383:I1944V;ENSP00000445753:I1906V	ENSP00000322570:I1933V	I	-	1	0	POLE	131722565	0.001000	0.12720	0.001000	0.08648	0.049000	0.14656	-0.194000	0.09559	-1.325000	0.02269	-0.766000	0.03442	ATT		0.517	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		15	29	0	0	0	0.007413	0	15	29				
POLE	5426	broad.mit.edu	37	12	133225973	133225973	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:133225973C>A	ENST00000320574.5	-	31	3967	c.3924G>T	c.(3922-3924)cgG>cgT	p.R1308R	POLE_ENST00000535270.1_Silent_p.R1281R	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1308					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	CAGGACCATCCCGGATGGCCC	0.647								DNA polymerases (catalytic subunits)																															uc001uks.1		NA																	0				ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.(3922-3924)CGG>CGT	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase epsilon							28.0	30.0	30.0					12																	133225973		2202	4298	6500	SO:0001819	synonymous_variant	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133225973C>A		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.3924G>T	12.37:g.133225973C>A						POLE_uc001ukr.1_Silent_p.R112R|POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Silent_p.R1281R	p.R1308R	NM_006231	NP_006222	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	31	3968	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	1308					Q13533|Q86VH9	Silent	SNP	ENST00000320574.5	37	c.3924G>T	CCDS9278.1																																																																																				0.647	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		11	26	1	0	3.86212e-05	0.008291	4.42789e-05	11	26				
ANKLE2	23141	broad.mit.edu	37	12	133306433	133306433	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:133306433C>G	ENST00000357997.5	-	11	2404	c.2315G>C	c.(2314-2316)aGa>aCa	p.R772T	ANKLE2_ENST00000542657.1_Missense_Mutation_p.R127T|ANKLE2_ENST00000542374.1_Intron|ANKLE2_ENST00000539605.1_Missense_Mutation_p.R710T|ANKLE2_ENST00000542282.1_Missense_Mutation_p.R127T	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	772					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		TAACAAGTCTCTTTCTACTGC	0.443																																							uc001ukx.2		NA																	0					0						c.(2314-2316)AGA>ACA		ankyrin repeat and LEM domain containing 2							158.0	151.0	153.0					12																	133306433		1971	4164	6135	SO:0001583	missense	23141					cytoplasm|integral to membrane|nuclear envelope		g.chr12:133306433C>G	AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"""Ankyrin repeat domain containing"""	29101	protein-coding gene	gene with protein product	"""LEM domain containing 7"""		"""KIAA0692"""	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.2315G>C	12.37:g.133306433C>G	ENSP00000350686:p.Arg772Thr					ANKLE2_uc009zyw.1_Missense_Mutation_p.R127T	p.R772T	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)	11	2382	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	772					A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Missense_Mutation	SNP	ENST00000357997.5	37	c.2315G>C	CCDS41869.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.531484	0.27387	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000542282;ENST00000542657;ENST00000538766	T;T;T;T;T	0.44482	1.96;1.95;0.92;0.92;0.92	5.59	1.55	0.23275	.	1.298190	0.04306	N	0.348091	T	0.24314	0.0589	N	0.08118	0	0.09310	N	1	B	0.16396	0.017	B	0.13407	0.009	T	0.19128	-1.0315	10	0.30078	T	0.28	-13.8349	6.7484	0.23474	0.0:0.5598:0.1263:0.3139	.	772	Q86XL3	ANKL2_HUMAN	T	710;772;127;127;127	ENSP00000446268:R710T;ENSP00000350686:R772T;ENSP00000437807:R127T;ENSP00000438551:R127T;ENSP00000445760:R127T	ENSP00000350686:R772T	R	-	2	0	ANKLE2	131816506	0.000000	0.05858	0.000000	0.03702	0.090000	0.18270	-0.247000	0.08866	0.363000	0.24346	0.645000	0.84053	AGA		0.443	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1			8	27	0	0	0	0.004482	0	8	27				
SACS	26278	broad.mit.edu	37	13	23913627	23913627	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr13:23913627C>A	ENST00000382292.3	-	9	4661	c.4388G>T	c.(4387-4389)aGa>aTa	p.R1463I	SACS_ENST00000402364.1_Missense_Mutation_p.R713I|SACS_ENST00000382298.3_Missense_Mutation_p.R1463I			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1463					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ATTTTTAATTCTTACAGTAAG	0.368																																							uc001uon.2		NA																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(4387-4389)AGA>ATA		sacsin							101.0	99.0	100.0					13																	23913627		2203	4299	6502	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23913627C>A	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.4388G>T	13.37:g.23913627C>A	ENSP00000371729:p.Arg1463Ile					SACS_uc001uoo.2_Missense_Mutation_p.R1316I|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	p.R1463I	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	4977	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	1463					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.4388G>T	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	17.12	3.308115	0.60305	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.96913	-4.17;-4.17;-4.17	5.96	5.12	0.69794	ATPase-like, ATP-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.96188	0.8757	M	0.62723	1.935	0.58432	D	0.999999	D	0.56035	0.974	P	0.49637	0.617	D	0.95960	0.8961	10	0.59425	D	0.04	.	15.155	0.72733	0.0:0.9326:0.0:0.0674	.	1463	Q9NZJ4	SACS_HUMAN	I	1463;713;1463	ENSP00000371729:R1463I;ENSP00000385844:R713I;ENSP00000371735:R1463I	ENSP00000371729:R1463I	R	-	2	0	SACS	22811627	1.000000	0.71417	1.000000	0.80357	0.581000	0.36288	7.487000	0.81328	1.542000	0.49330	-0.142000	0.14014	AGA		0.368	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		17	51	1	0	2.4624e-09	0.008871	3.32569e-09	17	51				
SACS	26278	broad.mit.edu	37	13	23914776	23914776	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr13:23914776G>T	ENST00000382292.3	-	9	3512	c.3239C>A	c.(3238-3240)tCa>tAa	p.S1080*	SACS_ENST00000402364.1_Nonsense_Mutation_p.S330*|SACS_ENST00000382298.3_Nonsense_Mutation_p.S1080*			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1080					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AATATCTGGTGAGGTAAAAAC	0.378																																							uc001uon.2		NA																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(3238-3240)TCA>TAA		sacsin							128.0	135.0	132.0					13																	23914776		2203	4300	6503	SO:0001587	stop_gained	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23914776G>T	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.3239C>A	13.37:g.23914776G>T	ENSP00000371729:p.Ser1080*					SACS_uc001uoo.2_Nonsense_Mutation_p.S933*|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	p.S1080*	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	3828	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	1080					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Nonsense_Mutation	SNP	ENST00000382292.3	37	c.3239C>A	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	G	54	21.984412	0.99945	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	.	.	.	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.6013	0.99457	0.0:0.0:1.0:0.0	.	.	.	.	X	1080;330;1080	.	ENSP00000371729:S1080X	S	-	2	0	SACS	22812776	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.476000	0.97823	2.878000	0.98634	0.650000	0.86243	TCA		0.378	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		29	93	1	0	2.65835e-16	0.007291	4.20976e-16	29	93				
RNF17	56163	broad.mit.edu	37	13	25406056	25406056	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr13:25406056G>T	ENST00000255324.5	+	18	2474	c.2422G>T	c.(2422-2424)Gaa>Taa	p.E808*	RNF17_ENST00000381921.1_Nonsense_Mutation_p.E808*	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	808					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GTGGTCCAAAGAAGCTAAAGA	0.289																																							uc001upr.2		NA																	0				ovary(1)|skin(1)	2						c.(2422-2424)GAA>TAA		ring finger protein 17							69.0	71.0	70.0					13																	25406056		2203	4297	6500	SO:0001587	stop_gained	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25406056G>T	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.2422G>T	13.37:g.25406056G>T	ENSP00000255324:p.Glu808*					RNF17_uc010tdd.1_Nonsense_Mutation_p.E667*|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Nonsense_Mutation_p.E808*|RNF17_uc001ups.2_Nonsense_Mutation_p.E747*|RNF17_uc010aac.2_Nonsense_Mutation_p.E6*	p.E808*	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	18	2463	+		Lung SC(185;0.0225)|Breast(139;0.077)	808					Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Nonsense_Mutation	SNP	ENST00000255324.5	37	c.2422G>T	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	G	38	7.240861	0.98157	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000418120	.	.	.	5.39	2.03	0.26663	.	0.578440	0.17509	N	0.171684	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-4.4925	3.926	0.09263	0.4611:0.1878:0.3512:0.0	.	.	.	.	X	808;808;667;132	.	ENSP00000255324:E808X	E	+	1	0	RNF17	24304056	0.596000	0.26866	0.907000	0.35723	0.961000	0.63080	0.480000	0.22244	0.100000	0.17581	-0.378000	0.06908	GAA		0.289	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		13	27	1	0	7.93312e-07	0.00245	9.78967e-07	13	27				
RNF17	56163	broad.mit.edu	37	13	25419098	25419098	+	Splice_Site	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr13:25419098G>T	ENST00000255324.5	+	22	3034		c.e22-1		RNF17_ENST00000339524.3_Splice_Site|RNF17_ENST00000381921.1_Splice_Site	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17						multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TATTTTCTTAGGTCTTGCTGT	0.318																																							uc001upr.2		NA																	0				ovary(1)|skin(1)	2						c.e22-1		ring finger protein 17							116.0	119.0	118.0					13																	25419098		2202	4300	6502	SO:0001630	splice_region_variant	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25419098G>T	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.2983-1G>T	13.37:g.25419098G>T						RNF17_uc010tdd.1_Splice_Site_p.V854_splice|RNF17_uc010aab.2_Splice_Site|RNF17_uc010tde.1_Splice_Site_p.V995_splice|RNF17_uc001ups.2_Splice_Site_p.V934_splice|RNF17_uc010aac.2_Splice_Site_p.V193_splice|RNF17_uc010aad.2_Splice_Site_p.V47_splice	p.V995_splice	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	22	3024	+		Lung SC(185;0.0225)|Breast(139;0.077)						Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Splice_Site	SNP	ENST00000255324.5	37	c.2983_splice	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	G	16.01	3.000404	0.54147	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000418120;ENST00000339524	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0001	0.71464	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RNF17	24317098	1.000000	0.71417	0.999000	0.59377	0.882000	0.50991	4.101000	0.57769	2.520000	0.84964	0.591000	0.81541	.		0.318	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994	Intron	9	32	1	0	0.00136819	0.001368	0.0014818	9	32				
CDK8	1024	broad.mit.edu	37	13	26957008	26957008	+	Splice_Site	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr13:26957008G>A	ENST00000381527.3	+	5	1017	c.514G>A	c.(514-516)Gct>Act	p.A172T	CDK8_ENST00000536792.1_Intron	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	172	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		AGTAAAAATTGGTATGTTATA	0.328																																							uc001uqr.1		NA																	0				lung(2)|large_intestine(1)|ovary(1)|skin(1)	5						c.(514-516)GCT>ACT		cyclin-dependent kinase 8							105.0	108.0	107.0					13																	26957008		2203	4300	6503	SO:0001630	splice_region_variant	1024				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr13:26957008G>A	X85753	CCDS9317.1	13q12	2011-11-08			ENSG00000132964	ENSG00000132964		"""Cyclin-dependent kinases"""	1779	protein-coding gene	gene with protein product		603184				7568034	Standard	NM_001260		Approved	K35	uc001uqr.1	P49336	OTTHUMG00000016617	ENST00000381527.3:c.514+1G>A	13.37:g.26957008G>A						CDK8_uc001uqs.1_Missense_Mutation_p.A172T|CDK8_uc001uqt.1_Intron	p.A172T	NM_001260	NP_001251	P49336	CDK8_HUMAN		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)	5	540	+	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)	172			Protein kinase.		Q5VUF3|Q6ISB5	Missense_Mutation	SNP	ENST00000381527.3	37	c.514G>A	CCDS9317.1	.	.	.	.	.	.	.	.	.	.	G	34	5.410711	0.96072	.	.	ENSG00000132964	ENST00000381527	T	0.49720	0.77	5.74	5.74	0.90152	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.61489	0.2351	L	0.38733	1.17	0.80722	D	1	D;D	0.67145	0.995;0.996	D;D	0.66979	0.913;0.948	T	0.62044	-0.6937	10	0.87932	D	0	-11.7047	20.2825	0.98528	0.0:0.0:1.0:0.0	.	172;172	P49336-2;P49336	.;CDK8_HUMAN	T	172	ENSP00000370938:A172T	ENSP00000370938:A172T	A	+	1	0	CDK8	25855008	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.142000	0.94618	2.873000	0.98535	0.561000	0.74099	GCT		0.328	CDK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044250.1		Missense_Mutation	15	36	0	0	0	0.007413	0	15	36				
MTUS2	23281	broad.mit.edu	37	13	29608058	29608058	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr13:29608058C>A	ENST00000431530.3	+	2	2330	c.2272C>A	c.(2272-2274)Cct>Act	p.P758T		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	748	Mediates interaction with MAPRE1.					cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GTTTTGTTCTCCTCCCTATGC	0.443																																							uc001usl.3		NA																	0					0						c.(2272-2274)CCT>ACT		hypothetical protein LOC23281 isoform a							88.0	83.0	85.0					13																	29608058		1911	4133	6044	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29608058C>A	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.2272C>A	13.37:g.29608058C>A	ENSP00000392057:p.Pro758Thr						p.P758T	NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN			2	2330	+			748			Mediates interaction with MAPRE1.		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.2272C>A	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.092895	0.36952	.	.	ENSG00000132938	ENST00000431530	T	0.18960	2.18	5.46	4.61	0.57282	.	0.541910	0.16461	N	0.213418	T	0.41696	0.1170	M	0.64997	1.995	0.80722	D	1	D	0.76494	0.999	D	0.67231	0.95	T	0.11743	-1.0575	9	.	.	.	.	13.1625	0.59552	0.0:0.9235:0.0:0.0765	.	748	Q5JR59	MTUS2_HUMAN	T	758	ENSP00000392057:P758T	.	P	+	1	0	MTUS2	28506058	1.000000	0.71417	0.991000	0.47740	0.074000	0.17049	3.960000	0.56752	1.288000	0.44600	0.655000	0.94253	CCT		0.443	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		4	12	1	0	0.00909568	0.009096	0.00953828	4	12				
N4BP2L1	90634	broad.mit.edu	37	13	32972857	32972857	+	IGR	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr13:32972857G>C	ENST00000380130.2	-	0	3046				BRCA2_ENST00000380152.3_Missense_Mutation_p.E3403Q|N4BP2L1_ENST00000459716.1_5'Flank|BRCA2_ENST00000544455.1_Missense_Mutation_p.E3403Q	NM_052818.2	NP_438169.2	Q5TBK1	N42L1_HUMAN	NEDD4 binding protein 2-like 1											large_intestine(1)|lung(2)|ovary(1)|skin(1)	5		Lung SC(185;0.0262)		all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171)		CAGTACGGAAGAATGTGAGAA	0.388																																						Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	uc001uub.1		NA								D|Mis|N|F|S						breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)	breast|ovarian|pancreatic		0				ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64						c.(10207-10209)GAA>CAA	Direct_reversal_of_damage|Homologous_recombination	breast cancer 2, early onset							55.0	52.0	53.0					13																	32972857		2203	4300	6503	SO:0001628	intergenic_variant	675	FanconAnemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome			cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32972857G>C	U50527	CCDS9345.2, CCDS41877.1	13q13.1	2008-11-05			ENSG00000139597	ENSG00000139597			25037	protein-coding gene	gene with protein product	"""hypothetical gene CG018"""					8812419	Standard	NM_052818		Approved	CG018	uc001uuc.3	Q5TBK1	OTTHUMG00000016697		13.37:g.32972857G>C		TCGA Ovarian(8;0.087)					p.E3403Q	NM_000059	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	27	10434	+		Lung SC(185;0.0262)	3403					A4QN21|Q5TBK0	Missense_Mutation	SNP	ENST00000380130.2	37	c.10207G>C	CCDS9345.2	.	.	.	.	.	.	.	.	.	.	G	15.47	2.841941	0.51057	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00902	5.56;5.56	4.6	1.94	0.25998	.	0.749081	0.12177	N	0.492479	T	0.00906	0.0030	L	0.27053	0.805	0.09310	N	1	P	0.48162	0.906	B	0.41036	0.346	T	0.55263	-0.8168	10	0.52906	T	0.07	.	6.4735	0.22022	0.3043:0.0:0.6957:0.0	.	3403	P51587	BRCA2_HUMAN	Q	3403	ENSP00000369497:E3403Q;ENSP00000439902:E3403Q	ENSP00000369497:E3403Q	E	+	1	0	BRCA2	31870857	0.211000	0.23529	0.002000	0.10522	0.023000	0.10783	1.526000	0.35964	0.204000	0.20548	0.650000	0.86243	GAA		0.388	N4BP2L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_052818		12	33	0	0	0	0.001368	0	12	33				
LHFP	10186	broad.mit.edu	37	13	40175066	40175066	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr13:40175066G>A	ENST00000379589.3	-	2	750	c.288C>T	c.(286-288)ctC>ctT	p.L96L	LHFP_ENST00000495922.1_5'Flank	NM_005780.2	NP_005771.1	Q9Y693	LHFP_HUMAN	lipoma HMGIC fusion partner	96						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)		HMGA2/LHFP(2)	breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		CCACCAGGAGGAGGAGGCCAC	0.592			T	HMGA2	lipoma																																		uc001uxf.2		NA		Dom	yes		13	13q12	10186	T	lipoma HMGIC fusion partner			M	HMGA2		lipoma	HMGA2/LHFP(2)	0				soft_tissue(2)|lung(1)|breast(1)	4						c.(286-288)CTC>CTT		lipoma HMGIC fusion partner precursor							137.0	131.0	133.0					13																	40175066		2203	4300	6503	SO:0001819	synonymous_variant	10186					integral to membrane	DNA binding	g.chr13:40175066G>A	AF098807	CCDS9369.1	13q12	2008-07-18			ENSG00000183722	ENSG00000183722			6586	protein-coding gene	gene with protein product		606710				10329012	Standard	NM_005780		Approved	MGC22429	uc001uxf.3	Q9Y693	OTTHUMG00000016767	ENST00000379589.3:c.288C>T	13.37:g.40175066G>A							p.L96L	NM_005780	NP_005771	Q9Y693	LHFP_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)	2	799	-		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)	96			Helical; (Potential).		B2R7M2|Q53FC0|Q96SH5	Silent	SNP	ENST00000379589.3	37	c.288C>T	CCDS9369.1																																																																																				0.592	LHFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044619.1	NM_005780		26	75	0	0	0	0.008361	0	26	75				
FOXO1	2308	broad.mit.edu	37	13	41134033	41134033	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr13:41134033G>T	ENST00000379561.5	-	2	1979	c.1595C>A	c.(1594-1596)tCt>tAt	p.S532Y	FOXO1_ENST00000473775.1_5'Flank	NM_002015.3	NP_002006.2	Q12778	FOXO1_HUMAN	forkhead box O1	532	Sufficient for interaction with NLK. {ECO:0000250}.				apoptotic process (GO:0006915)|autophagy (GO:0006914)|blood vessel development (GO:0001568)|cellular glucose homeostasis (GO:0001678)|cellular response to cold (GO:0070417)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hyperoxia (GO:0071455)|cellular response to insulin stimulus (GO:0032869)|cellular response to nitric oxide (GO:0071732)|cellular response to oxidative stress (GO:0034599)|cellular response to starvation (GO:0009267)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|fat cell differentiation (GO:0045444)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|regulation of cell proliferation (GO:0042127)|regulation of energy homeostasis (GO:2000505)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|protein phosphatase 2A binding (GO:0051721)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)		PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		GTTAACTGCAGATGTCTGCTG	0.557																																							uc001uxl.3		NA																PAX3/FOXO1(749)|PAX7/FOXO1(197)	0				soft_tissue(946)|lung(1)|central_nervous_system(1)	948						c.(1594-1596)TCT>TAT		forkhead box O1							133.0	122.0	126.0					13																	41134033		2203	4300	6503	SO:0001583	missense	2308				anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase 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 factor binding	g.chr13:41134033G>T		CCDS9371.1	13q14.1	2011-08-01	2007-05-02	2007-05-02	ENSG00000150907	ENSG00000150907		"""Forkhead boxes"""	3819	protein-coding gene	gene with protein product		136533	"""forkhead homolog in rhabdomyosarcoma"""	FKHR, FOXO1A		8275086, 15057823	Standard	NM_002015		Approved	FKH1	uc001uxl.4	Q12778	OTTHUMG00000016775	ENST00000379561.5:c.1595C>A	13.37:g.41134033G>T	ENSP00000368880:p.Ser532Tyr					FOXO1_uc010acc.1_Missense_Mutation_p.S347Y	p.S532Y	NM_002015	NP_002006	Q12778	FOXO1_HUMAN		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)	2	1980	-		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)	532					O43523|Q5VYC7|Q6NSK6	Missense_Mutation	SNP	ENST00000379561.5	37	c.1595C>A	CCDS9371.1	.	.	.	.	.	.	.	.	.	.	G	9.759	1.169645	0.21621	.	.	ENSG00000150907	ENST00000379561	D	0.94417	-3.42	5.87	5.87	0.94306	.	0.534882	0.21287	N	0.077045	D	0.93877	0.8041	M	0.66939	2.045	0.22171	N	0.999316	B	0.16166	0.016	B	0.19148	0.024	D	0.85170	0.0997	10	0.45353	T	0.12	-5.7715	19.2063	0.93732	0.0:0.0:1.0:0.0	.	532	Q12778	FOXO1_HUMAN	Y	532	ENSP00000368880:S532Y	ENSP00000368880:S532Y	S	-	2	0	FOXO1	40032033	1.000000	0.71417	0.011000	0.14972	0.398000	0.30690	3.440000	0.52886	2.785000	0.95823	0.655000	0.94253	TCT		0.557	FOXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044634.3	NM_002015		35	89	1	0	2.05212e-20	0.005524	3.41713e-20	35	89				
KIAA0226L	80183	broad.mit.edu	37	13	46946337	46946337	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr13:46946337G>A	ENST00000429979.1	-	3	878	c.274C>T	c.(274-276)Cct>Tct	p.P92S	KIAA0226L_ENST00000534925.1_5'UTR|RNU2-6P_ENST00000411404.1_RNA|KIAA0226L_ENST00000378781.3_Missense_Mutation_p.P92S|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.P92S|KIAA0226L_ENST00000322896.6_Intron|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.P92S|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.P92S|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.P25S|KIAA0226L_ENST00000409879.2_Intron|KIAA0226L_ENST00000480935.1_5'UTR	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	92	Ser-rich.									NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						AGGCACGAAGGTGAAGGGCCT	0.582																																							uc010acl.2		NA																	0					0						c.(274-276)CCT>TCT		hypothetical protein LOC80183							112.0	103.0	106.0					13																	46946337		2203	4300	6503	SO:0001583	missense	80183							g.chr13:46946337G>A	AK025215	CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1	13q14.11	2011-08-09	2011-08-09	2011-08-09	ENSG00000102445	ENSG00000102445			20420	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 18"""	C13orf18			Standard	NM_001286766		Approved	FLJ21562	uc010acl.3	Q9H714	OTTHUMG00000016868	ENST00000429979.1:c.274C>T	13.37:g.46946337G>A	ENSP00000396935:p.Pro92Ser					C13orf18_uc001vbf.3_Missense_Mutation_p.P25S|C13orf18_uc001vbg.3_5'UTR|C13orf18_uc010tfz.1_Intron|C13orf18_uc010acm.2_5'UTR|C13orf18_uc010acn.2_Intron|C13orf18_uc001vbe.3_Missense_Mutation_p.P92S|C13orf18_uc001vbh.3_Missense_Mutation_p.P92S|C13orf18_uc001vbi.3_Intron|C13orf18_uc010aco.1_Missense_Mutation_p.P92S|C13orf18_uc010tga.1_Missense_Mutation_p.P25S	p.P92S	NM_025113	NP_079389	Q9H714	CM018_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;2.19e-05)	3	879	-		Lung NSC(96;2.31e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	92			Ser-rich.		A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Missense_Mutation	SNP	ENST00000429979.1	37	c.274C>T	CCDS31970.2	.	.	.	.	.	.	.	.	.	.	G	8.552	0.875840	0.17395	.	.	ENSG00000102445	ENST00000378781;ENST00000429979;ENST00000378797;ENST00000378784;ENST00000389908;ENST00000378787;ENST00000439642	T;T;T;T;T;T;T	0.50001	0.8;0.91;0.87;0.77;0.91;0.87;0.76	5.72	2.93	0.34026	.	0.620613	0.15182	N	0.276075	T	0.32041	0.0816	N	0.20986	0.625	0.09310	N	1	B;B;B;B;B	0.17852	0.024;0.006;0.001;0.003;0.006	B;B;B;B;B	0.26202	0.067;0.015;0.001;0.006;0.009	T	0.25813	-1.0121	10	0.23891	T	0.37	0.3765	8.0367	0.30496	0.1551:0.0:0.7118:0.1331	.	92;92;92;25;92	E7EMA2;Q9H714-1;Q9H714;Q9H714-3;Q9H714-4	.;.;K226L_HUMAN;.;.	S	92;92;92;25;92;92;92	ENSP00000368057:P92S;ENSP00000396935:P92S;ENSP00000368074:P92S;ENSP00000368061:P25S;ENSP00000374558:P92S;ENSP00000368064:P92S;ENSP00000414579:P92S	ENSP00000368057:P92S	P	-	1	0	KIAA0226L	45844338	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.508000	0.22692	0.328000	0.23435	-0.797000	0.03246	CCT		0.582	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044809.2	NM_025113		15	50	0	0	0	0.007413	0	15	50				
FNDC3A	22862	broad.mit.edu	37	13	49712912	49712912	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr13:49712912G>T	ENST00000492622.2	+	7	1095	c.790G>T	c.(790-792)Gca>Tca	p.A264S	FNDC3A_ENST00000398316.3_Missense_Mutation_p.A208S|FNDC3A_ENST00000541916.1_Missense_Mutation_p.A264S	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	264					fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		AGCATTTGAAGCACTTCTTTC	0.249																																							uc001vcm.2		NA																	0				lung(2)	2						c.(790-792)GCA>TCA		fibronectin type III domain containing 3A							45.0	47.0	47.0					13																	49712912		2198	4270	6468	SO:0001583	missense	22862					Golgi membrane|integral to membrane		g.chr13:49712912G>T	AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"""Fibronectin type III domain containing"""	20296	protein-coding gene	gene with protein product		615794	"""fibronectin type III domain containing 3"""	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.790G>T	13.37:g.49712912G>T	ENSP00000417257:p.Ala264Ser					FNDC3A_uc001vcl.1_Missense_Mutation_p.A264S|FNDC3A_uc001vcn.2_Missense_Mutation_p.A264S|FNDC3A_uc001vco.2_RNA|FNDC3A_uc001vcp.1_Missense_Mutation_p.A208S|FNDC3A_uc001vcq.2_Missense_Mutation_p.A208S	p.A264S	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)	7	1095	+		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	264					B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Missense_Mutation	SNP	ENST00000492622.2	37	c.790G>T	CCDS41886.1	.	.	.	.	.	.	.	.	.	.	G	9.820	1.185599	0.21870	.	.	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	T;T;T	0.35789	1.29;1.29;1.29	5.81	4.06	0.47325	Fibronectin, type III (1);	0.274769	0.30630	N	0.009212	T	0.19967	0.0480	N	0.08118	0	0.45390	D	0.998379	B;B;B	0.12013	0.003;0.005;0.002	B;B;B	0.30943	0.122;0.095;0.027	T	0.05468	-1.0883	10	0.08837	T	0.75	-12.3005	12.4756	0.55811	0.1423:0.0:0.8577:0.0	.	208;264;264	Q9Y2H6-2;G5E9X3;Q9Y2H6	.;.;FND3A_HUMAN	S	264;200;264;208	ENSP00000417257:A264S;ENSP00000441831:A264S;ENSP00000381362:A208S	ENSP00000338579:A200S	A	+	1	0	FNDC3A	48610913	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.022000	0.57203	1.603000	0.50134	0.655000	0.94253	GCA		0.249	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	NM_014923		11	22	1	0	0.00244969	0.00245	0.00263201	11	22				
PCDH17	27253	broad.mit.edu	37	13	58207404	58207404	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr13:58207404G>C	ENST00000377918.3	+	1	750	c.724G>C	c.(724-726)Gtc>Ctc	p.V242L		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	242	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CAACAGCCCGGTCTTCGAGGC	0.607																																					Melanoma(72;952 1291 1619 12849 33676)	Melanoma(72;952 1291 1619 12849 33676)	uc001vhq.1		NA																	0				ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7						c.(724-726)GTC>CTC		protocadherin 17 precursor							72.0	61.0	65.0					13																	58207404		2203	4300	6503	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58207404G>C	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.724G>C	13.37:g.58207404G>C	ENSP00000367151:p.Val242Leu					PCDH17_uc010aec.1_Missense_Mutation_p.V242L	p.V242L	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	1616	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	242			Extracellular (Potential).|Cadherin 2.		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.724G>C	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	G	12.20	1.867142	0.32977	.	.	ENSG00000118946	ENST00000377918	T	0.61627	0.09	4.73	4.73	0.59995	Cadherin (2);Cadherin-like (1);	0.057530	0.64402	D	0.000002	T	0.56906	0.2017	M	0.73217	2.22	0.49687	D	0.999811	B;B	0.21606	0.058;0.034	B;B	0.25987	0.065;0.029	T	0.54569	-0.8274	9	.	.	.	.	13.2947	0.60290	0.0789:0.0:0.9211:0.0	.	242;242	O14917-2;O14917	.;PCD17_HUMAN	L	242	ENSP00000367151:V242L	.	V	+	1	0	PCDH17	57105405	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	3.737000	0.55060	2.470000	0.83445	0.650000	0.86243	GTC		0.607	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		18	41	0	0	0	0.008871	0	18	41				
PCDH17	27253	broad.mit.edu	37	13	58209020	58209020	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr13:58209020G>T	ENST00000377918.3	+	1	2366	c.2340G>T	c.(2338-2340)atG>atT	p.M780I		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	780					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GGAACGCCATGAACGTCATGA	0.602																																					Melanoma(72;952 1291 1619 12849 33676)	Melanoma(72;952 1291 1619 12849 33676)	uc001vhq.1		NA																	0				ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7						c.(2338-2340)ATG>ATT		protocadherin 17 precursor							108.0	101.0	104.0					13																	58209020		2203	4300	6503	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58209020G>T	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.2340G>T	13.37:g.58209020G>T	ENSP00000367151:p.Met780Ile					PCDH17_uc010aec.1_Missense_Mutation_p.M780I	p.M780I	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	3232	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	780			Cytoplasmic (Potential).		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.2340G>T	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	G	9.213	1.031522	0.19590	.	.	ENSG00000118946	ENST00000377918	T	0.50813	0.73	5.21	5.21	0.72293	.	0.079544	0.85682	D	0.000000	T	0.39436	0.1078	L	0.36672	1.1	0.51767	D	0.999933	B;B	0.18013	0.019;0.025	B;B	0.22152	0.038;0.017	T	0.13388	-1.0511	9	.	.	.	.	15.5919	0.76537	0.0:0.1473:0.8527:0.0	.	780;780	O14917-2;O14917	.;PCD17_HUMAN	I	780	ENSP00000367151:M780I	.	M	+	3	0	PCDH17	57107021	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.765000	0.68834	2.708000	0.92522	0.467000	0.42956	ATG		0.602	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		11	26	1	0	2.68362e-12	0.001368	3.93545e-12	11	26				
DIAPH3	81624	broad.mit.edu	37	13	60240873	60240873	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr13:60240873G>A	ENST00000400324.4	-	28	3647	c.3427C>T	c.(3427-3429)Cat>Tat	p.H1143Y	DIAPH3_ENST00000400320.1_Missense_Mutation_p.H1097Y|DIAPH3_ENST00000377908.2_Missense_Mutation_p.H1132Y|DIAPH3_ENST00000400319.1_Missense_Mutation_p.H1073Y|DIAPH3_ENST00000400330.1_Missense_Mutation_p.H1143Y	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	1143					actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		GTAGACGTATGAGTGTCTAGA	0.423																																							uc001vht.2		NA																	0				ovary(2)	2						c.(3427-3429)CAT>TAT		diaphanous homolog 3 isoform a							186.0	173.0	177.0					13																	60240873		1910	4132	6042	SO:0001583	missense	81624				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr13:60240873G>A	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.3427C>T	13.37:g.60240873G>A	ENSP00000383178:p.His1143Tyr					DIAPH3_uc001vhs.2_RNA	p.H1143Y	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN		GBM - Glioblastoma multiforme(99;2.77e-05)	28	3646	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)	1143					A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	ENST00000400324.4	37	c.3427C>T	CCDS41898.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.221638	0.39300	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320	T;T;T;T;T	0.80909	-1.42;-1.42;-1.43;-1.41;-1.41	5.46	3.69	0.42338	.	0.978663	0.08259	U	0.973393	T	0.68796	0.3040	N	0.19112	0.55	0.23371	N	0.997812	B	0.32620	0.378	B	0.24394	0.053	T	0.52495	-0.8568	10	0.34782	T	0.22	.	14.0434	0.64690	0.0:0.0:0.5379:0.4621	.	1143	Q9NSV4	DIAP3_HUMAN	Y	1143;1143;1132;1097;1073;1132;1073;1097	ENSP00000383178:H1143Y;ENSP00000383184:H1143Y;ENSP00000367141:H1132Y;ENSP00000383173:H1073Y;ENSP00000383174:H1097Y	ENSP00000367141:H1132Y	H	-	1	0	DIAPH3	59138874	0.975000	0.34042	0.520000	0.27837	0.961000	0.63080	1.649000	0.37281	0.625000	0.30304	0.655000	0.94253	CAT		0.423	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		28	59	0	0	0	0.002445	0	28	59				
PCDH20	64881	broad.mit.edu	37	13	61985470	61985470	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr13:61985470C>T	ENST00000409186.1	-	5	4867	c.2762G>A	c.(2761-2763)aGg>aAg	p.R921K	PCDH20_ENST00000409204.4_Missense_Mutation_p.R921K			Q8N6Y1	PCD20_HUMAN	protocadherin 20	921					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TTCATCTTCCCTGGGATGCTT	0.403																																							uc001vid.3		NA																	0				ovary(4)|breast(1)|central_nervous_system(1)	6						c.(2761-2763)AGG>AAG		protocadherin 20							88.0	81.0	83.0					13																	61985470		2203	4300	6503	SO:0001583	missense	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61985470C>T	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.2762G>A	13.37:g.61985470C>T	ENSP00000386653:p.Arg921Lys					PCDH20_uc010thj.1_Missense_Mutation_p.R921K	p.R921K	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	2	3126	-		Breast(118;0.195)|Prostate(109;0.229)	894			Cytoplasmic (Potential).		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	c.2762G>A	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	C	12.22	1.874045	0.33069	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.53640	0.61;0.61	6.07	4.34	0.51931	.	0.079329	0.52532	N	0.000065	T	0.23572	0.0570	N	0.12746	0.255	0.34316	D	0.685963	B	0.06786	0.001	B	0.04013	0.001	T	0.24693	-1.0153	10	0.02654	T	1	.	9.5775	0.39468	0.0:0.7536:0.1167:0.1297	.	921	A8K1K9	.	K	921;921;667	ENSP00000387250:R921K;ENSP00000386653:R921K	ENSP00000351500:R667K	R	-	2	0	PCDH20	60883471	1.000000	0.71417	0.988000	0.46212	0.757000	0.42996	2.179000	0.42528	1.583000	0.49898	-0.140000	0.14226	AGG		0.403	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		5	35	0	0	0	0.001984	0	5	35				
KLHL1	57626	broad.mit.edu	37	13	70535443	70535443	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr13:70535443T>C	ENST00000377844.4	-	3	1573	c.814A>G	c.(814-816)Aca>Gca	p.T272A	KLHL1_ENST00000545028.1_Missense_Mutation_p.T79A	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	272	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GCCATACCTGTATATGCAAAT	0.353																																							uc001vip.2		NA																	0					0						c.(814-816)ACA>GCA		kelch-like 1 protein							124.0	113.0	117.0					13																	70535443		2203	4300	6503	SO:0001583	missense	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70535443T>C	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.814A>G	13.37:g.70535443T>C	ENSP00000367075:p.Thr272Ala					KLHL1_uc010thm.1_Missense_Mutation_p.T211A	p.T272A	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	3	1608	-		Breast(118;0.000162)	272			BTB.		A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	37	c.814A>G	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.201616	0.79015	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	T;T	0.74737	-0.87;-0.87	5.08	5.08	0.68730	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.082841	0.52532	D	0.000075	D	0.89431	0.6713	M	0.94021	3.485	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.993	D	0.92261	0.5817	10	0.87932	D	0	.	15.1604	0.72778	0.0:0.0:0.0:1.0	.	272;272	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	A	272;79	ENSP00000367075:T272A;ENSP00000439602:T79A	ENSP00000367075:T272A	T	-	1	0	KLHL1	69433444	1.000000	0.71417	1.000000	0.80357	0.797000	0.45037	7.990000	0.88215	2.048000	0.60808	0.460000	0.39030	ACA		0.353	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		23	41	0	0	0	0.005443	0	23	41				
MYCBP2	23077	broad.mit.edu	37	13	77817201	77817201	+	De_novo_Start_OutOfFrame	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr13:77817201T>A	ENST00000360084.5	-	0	2600				MYCBP2_ENST00000357337.6_Missense_Mutation_p.E836D|MYCBP2_ENST00000544440.2_Missense_Mutation_p.E836D|MYCBP2_ENST00000407578.2_Missense_Mutation_p.E874D					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TACCTCTTCCTTCCTCTAATC	0.413																																							uc001vkf.2		NA																	0				ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(2506-2508)GAA>GAT		MYC binding protein 2							270.0	222.0	238.0					13																	77817201		2203	4300	6503			23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77817201T>A	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000360084.5:c.-5104A>T	13.37:g.77817201T>A						MYCBP2_uc010aev.2_Missense_Mutation_p.E240D	p.E836D	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	18	2599	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	836						Missense_Mutation	SNP	ENST00000360084.5	37	c.2508A>T		.	.	.	.	.	.	.	.	.	.	T	13.36	2.215379	0.39102	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.28895	1.6;1.59;1.6	5.22	-0.22	0.13130	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (1);	0.126232	0.52532	N	0.000080	T	0.34077	0.0885	L	0.44542	1.39	0.37744	D	0.925713	P	0.52842	0.956	P	0.62184	0.899	T	0.25257	-1.0137	10	0.23302	T	0.38	.	5.5363	0.17013	0.1193:0.2727:0.0:0.608	.	836	O75592	MYCB2_HUMAN	D	836;874;836	ENSP00000349892:E836D;ENSP00000384288:E874D;ENSP00000444596:E836D	ENSP00000349892:E836D	E	-	3	2	MYCBP2	76715202	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	0.668000	0.25127	-0.263000	0.09378	0.455000	0.32223	GAA		0.413	MYCBP2-202	KNOWN	basic	protein_coding	protein_coding		NM_015057		16	56	0	0	0	0.010504	0	16	56				
SLAIN1	122060	broad.mit.edu	37	13	78335215	78335215	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr13:78335215C>G	ENST00000466548.1	+	7	1627	c.1601C>G	c.(1600-1602)cCt>cGt	p.P534R	SLAIN1_ENST00000267219.8_Missense_Mutation_p.P315R|SLAIN1_ENST00000488699.1_Missense_Mutation_p.P392R|SLAIN1_ENST00000358679.3_Missense_Mutation_p.P271R|SLAIN1_ENST00000351546.3_Missense_Mutation_p.P271R|SLAIN1_ENST00000314070.5_Missense_Mutation_p.P157R|SLAIN1_ENST00000418532.1_Missense_Mutation_p.P315R	NM_001242868.1	NP_001229797.1	Q8ND83	SLAI1_HUMAN	SLAIN motif family, member 1	534										breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		AGTAACCTGCCTCGAAGCAAA	0.468																																							uc010thy.1		NA																	0				ovary(1)|skin(1)	2						c.(1174-1176)CCT>CGT		SLAIN motif family, member 1 B							71.0	64.0	67.0					13																	78335215		2203	4300	6503	SO:0001583	missense	122060							g.chr13:78335215C>G	AK054608	CCDS9460.1, CCDS31995.1, CCDS31995.2, CCDS55901.1, CCDS73588.1, CCDS73589.1	13q22.3	2006-09-12	2006-09-12	2006-09-12	ENSG00000139737	ENSG00000139737			26387	protein-coding gene	gene with protein product		610491	"""chromosome 13 open reading frame 32"""	C13orf32		16546155	Standard	NM_001040153		Approved	FLJ30046	uc001vkk.3	Q8ND83	OTTHUMG00000017110	ENST00000466548.1:c.1601C>G	13.37:g.78335215C>G	ENSP00000419730:p.Pro534Arg					SLAIN1_uc001vkk.1_Missense_Mutation_p.P315R|SLAIN1_uc001vkl.1_Missense_Mutation_p.P271R|SLAIN1_uc010thz.1_Missense_Mutation_p.P270R|SLAIN1_uc010aex.1_Missense_Mutation_p.P157R|SLAIN1_uc010aey.1_Missense_Mutation_p.P157R|SLAIN1_uc001vkm.2_Missense_Mutation_p.P271R	p.P392R	NM_144595	NP_653196	Q8ND83	SLAI1_HUMAN		GBM - Glioblastoma multiforme(99;0.0853)	6	1218	+		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)	534					A8K0Z9|B7Z209|Q5T6P4|Q5T6P7|Q8ND10|Q96NV0	Missense_Mutation	SNP	ENST00000466548.1	37	c.1175C>G		.	.	.	.	.	.	.	.	.	.	C	26.3	4.726718	0.89298	.	.	ENSG00000139737	ENST00000466548;ENST00000389459;ENST00000418532;ENST00000488699;ENST00000267219;ENST00000351546;ENST00000314070;ENST00000358679	.	.	.	5.9	5.9	0.94986	.	0.142736	0.64402	D	0.000004	D	0.83496	0.5267	M	0.78456	2.415	0.58432	D	0.999998	D;D;B;D	0.89917	1.0;0.999;0.404;1.0	D;D;B;D	0.87578	0.991;0.976;0.114;0.998	D	0.84225	0.0463	9	0.87932	D	0	-13.3525	20.2822	0.98520	0.0:1.0:0.0:0.0	.	270;392;157;534	B7Z326;B7Z209;Q8ND10;Q8ND83	.;.;.;SLAI1_HUMAN	R	534;534;315;392;315;271;157;271	.	ENSP00000267219:P315R	P	+	2	0	SLAIN1	77233216	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.927000	0.63440	2.806000	0.96561	0.655000	0.94253	CCT		0.468	SLAIN1-009	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000355018.1	NM_144595		5	35	0	0	0	0.000602	0	5	35				
SLITRK1	114798	broad.mit.edu	37	13	84454630	84454630	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr13:84454630C>G	ENST00000377084.2	-	1	1898	c.1013G>C	c.(1012-1014)aGt>aCt	p.S338T		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	338	LRRNT 2.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GCAGGGTAAACTGTTAGCTAA	0.537																																							uc001vlk.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(1012-1014)AGT>ACT		slit and trk like 1 protein precursor							75.0	73.0	74.0					13																	84454630		2203	4300	6503	SO:0001583	missense	114798					integral to membrane		g.chr13:84454630C>G	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.1013G>C	13.37:g.84454630C>G	ENSP00000366288:p.Ser338Thr						p.S338T	NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	1899	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	338			Extracellular (Potential).|LRRNT 2.		Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	c.1013G>C	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	C	6.599	0.478985	0.12581	.	.	ENSG00000178235	ENST00000377084	T	0.58652	0.32	4.85	4.85	0.62838	.	0.632329	0.15220	N	0.273991	T	0.35480	0.0933	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.10042	-1.0647	10	0.22109	T	0.4	-0.3127	11.2224	0.48864	0.0:0.8148:0.1851:0.0	.	338	Q96PX8	SLIK1_HUMAN	T	338	ENSP00000366288:S338T	ENSP00000366288:S338T	S	-	2	0	SLITRK1	83352631	0.011000	0.17503	0.839000	0.33178	0.977000	0.68977	1.965000	0.40471	2.525000	0.85131	0.555000	0.69702	AGT		0.537	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		15	62	0	0	0	0.007413	0	15	62				
GPC5	2262	broad.mit.edu	37	13	92345607	92345607	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr13:92345607C>A	ENST00000377067.3	+	3	864	c.492C>A	c.(490-492)aaC>aaA	p.N164K		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	164					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				AATTTGTAAACAGATTTTTTG	0.463																																							uc010tif.1		NA																	0				ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5						c.(490-492)AAC>AAA		glypican 5 precursor							152.0	155.0	154.0					13																	92345607		2203	4300	6503	SO:0001583	missense	2262					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:92345607C>A	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.492C>A	13.37:g.92345607C>A	ENSP00000366267:p.Asn164Lys						p.N164K	NM_004466	NP_004457	P78333	GPC5_HUMAN			3	858	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	164					B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	c.492C>A	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.857430	0.32791	.	.	ENSG00000179399	ENST00000377067	T	0.50001	0.76	5.07	5.07	0.68467	.	0.397131	0.29602	N	0.011695	T	0.47078	0.1426	M	0.66939	2.045	0.32553	N	0.532095	B	0.23249	0.082	B	0.29663	0.105	T	0.58983	-0.7539	10	0.56958	D	0.05	-30.0482	9.3595	0.38186	0.0:0.8347:0.0:0.1653	.	164	P78333	GPC5_HUMAN	K	164	ENSP00000366267:N164K	ENSP00000366267:N164K	N	+	3	2	GPC5	91143608	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	2.952000	0.49097	2.351000	0.79841	0.467000	0.42956	AAC		0.463	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		23	109	1	0	7.07758e-08	0.004656	9.1199e-08	23	109				
DZIP1	22873	broad.mit.edu	37	13	96293773	96293773	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr13:96293773G>T	ENST00000376829.2	-	5	1224	c.373C>A	c.(373-375)Cag>Aag	p.Q125K	DZIP1_ENST00000361156.3_Missense_Mutation_p.Q125K|DZIP1_ENST00000361396.2_Missense_Mutation_p.Q125K|DZIP1_ENST00000347108.3_Missense_Mutation_p.Q125K|DZIP1_ENST00000466027.1_5'UTR	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	125					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			ATGGTGAACTGCGCCAGACGG	0.607																																							uc001vmk.2		NA																	0				ovary(2)	2						c.(373-375)CAG>AAG		DAZ interacting protein 1 isoform 2							107.0	81.0	90.0					13																	96293773		2203	4300	6503	SO:0001583	missense	22873				germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr13:96293773G>T	AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"""Zinc fingers, C2H2-type"""	20908	protein-coding gene	gene with protein product		608671	"""DAZ interacting protein 1"""				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.373C>A	13.37:g.96293773G>T	ENSP00000366025:p.Gln125Lys					DZIP1_uc001vml.2_Missense_Mutation_p.Q125K|DZIP1_uc001vmn.2_Missense_Mutation_p.Q114K	p.Q125K	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.141)		5	1225	-	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		125					Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Missense_Mutation	SNP	ENST00000376829.2	37	c.373C>A	CCDS9478.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.360588	0.82353	.	.	ENSG00000134874	ENST00000347108;ENST00000361156;ENST00000361396;ENST00000376829	T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	D	0.87144	0.6104	M	0.89715	3.055	0.44927	D	0.997946	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.87578	0.998;0.997;0.998	D	0.90385	0.4391	10	0.87932	D	0	-19.3107	17.6067	0.88040	0.0:0.0:1.0:0.0	.	125;125;125	Q05D25;Q86YF9-2;Q86YF9	.;.;DZIP1_HUMAN	K	125	ENSP00000257312:Q125K;ENSP00000355018:Q125K;ENSP00000355175:Q125K;ENSP00000366025:Q125K	ENSP00000257312:Q125K	Q	-	1	0	DZIP1	95091774	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	7.628000	0.83189	2.150000	0.67090	0.655000	0.94253	CAG		0.607	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3	NM_014934		15	66	1	0	1.99824e-07	0.00499	2.51812e-07	15	66				
HS6ST3	266722	broad.mit.edu	37	13	97485369	97485369	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr13:97485369A>T	ENST00000376705.2	+	2	1357	c.1333A>T	c.(1333-1335)Agg>Tgg	p.R445W		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	445					heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)	integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					GCGAGAGCACAGGGACCACCA	0.617																																							uc001vmw.2		NA																	0				ovary(1)|skin(1)	2						c.(1333-1335)AGG>TGG		heparan sulfate 6-O-sulfotransferase 3							45.0	52.0	49.0					13																	97485369		2203	4300	6503	SO:0001583	missense	266722					integral to membrane	sulfotransferase activity	g.chr13:97485369A>T	AF539426	CCDS9481.1	13q32.2	2007-12-04			ENSG00000185352	ENSG00000185352		"""Sulfotransferases, membrane-bound"""	19134	protein-coding gene	gene with protein product		609401					Standard	NM_153456		Approved		uc001vmw.4	Q8IZP7	OTTHUMG00000017232	ENST00000376705.2:c.1333A>T	13.37:g.97485369A>T	ENSP00000365895:p.Arg445Trp						p.R445W	NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN			2	1357	+	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		445			Lumenal (Potential).		Q5W0L0|Q68CW6	Missense_Mutation	SNP	ENST00000376705.2	37	c.1333A>T	CCDS9481.1	.	.	.	.	.	.	.	.	.	.	A	17.57	3.422400	0.62622	.	.	ENSG00000185352	ENST00000376705	D	0.83837	-1.77	5.83	-1.21	0.09524	.	0.386950	0.25854	N	0.027864	D	0.83815	0.5336	L	0.29908	0.895	0.09310	N	1	D	0.69078	0.997	P	0.61328	0.887	T	0.81453	-0.0926	10	0.87932	D	0	-7.6584	18.7305	0.91733	0.3925:0.6075:0.0:0.0	.	445	Q8IZP7	H6ST3_HUMAN	W	445	ENSP00000365895:R445W	ENSP00000365895:R445W	R	+	1	2	HS6ST3	96283370	0.032000	0.19561	0.076000	0.20297	0.818000	0.46254	0.906000	0.28517	-0.183000	0.10585	0.459000	0.35465	AGG		0.617	HS6ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045517.2	NM_153456		13	26	0	0	0	0.001368	0	13	26				
FARP1	10160	broad.mit.edu	37	13	99092923	99092923	+	Splice_Site	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr13:99092923G>T	ENST00000319562.6	+	24	2894		c.e24-1		FARP1_ENST00000595437.1_Splice_Site|FARP1_ENST00000376586.2_Splice_Site	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)						dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CCATCCTGTAGAGTCCCCTGA	0.632																																							uc001vnj.2		NA																	0				breast(2)	2						c.e24-1		FERM, RhoGEF, and pleckstrin domain protein 1							46.0	46.0	46.0					13																	99092923		2203	4300	6503	SO:0001630	splice_region_variant	10160				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:99092923G>T	AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.2630-1G>T	13.37:g.99092923G>T						FARP1_uc001vnh.2_Splice_Site_p.K908_splice	p.K877_splice	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		24	2966	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)							Q5JVI9|Q6IQ29	Splice_Site	SNP	ENST00000319562.6	37	c.2630_splice	CCDS9487.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.663756	0.47572	.	.	ENSG00000152767	ENST00000376586;ENST00000319562	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4936	0.95062	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FARP1	97890924	1.000000	0.71417	0.997000	0.53966	0.081000	0.17604	9.617000	0.98361	2.605000	0.88082	0.655000	0.94253	.		0.632	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766	Intron	5	37	1	0	8.12818e-05	0.001984	9.21236e-05	5	37				
ITGBL1	9358	broad.mit.edu	37	13	102235682	102235682	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr13:102235682C>A	ENST00000376180.3	+	6	1063	c.844C>A	c.(844-846)Cga>Aga	p.R282R	ITGBL1_ENST00000545560.2_Silent_p.R141R|ITGBL1_ENST00000376162.3_Silent_p.R189R	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	282	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)				breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGTCTATGACCGATATTCTGA	0.458																																							uc001vpb.2		NA																	0				ovary(1)|skin(1)	2						c.(844-846)CGA>AGA		integrin, beta-like 1 (with EGF-like repeat							229.0	220.0	223.0					13																	102235682		2203	4300	6503	SO:0001819	synonymous_variant	9358				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity	g.chr13:102235682C>A	AF072752	CCDS9499.1, CCDS61361.1, CCDS61362.1, CCDS73594.1	13q33	2008-07-18			ENSG00000198542	ENSG00000198542			6164	protein-coding gene	gene with protein product	"""ten integrin EGF-like repeat domains protein"", ""ITGBL1, integrin beta-like 1"""	604234				10051402	Standard	NM_004791		Approved	TIED, OSCP	uc001vpb.4	O95965	OTTHUMG00000017296	ENST00000376180.3:c.844C>A	13.37:g.102235682C>A						ITGBL1_uc010agb.2_Silent_p.R233R|ITGBL1_uc001vpc.3_Silent_p.R141R	p.R282R	NM_004791	NP_004782	O95965	ITGBL_HUMAN			6	1063	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		282			VI.|Cysteine-rich tandem repeats.		A8K5M5|B3KTP1|B4DQ02|Q8N172|Q9NPR0	Silent	SNP	ENST00000376180.3	37	c.844C>A	CCDS9499.1																																																																																				0.458	ITGBL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045669.2	NM_004791		35	125	1	0	1.04594e-18	0.00623	1.70913e-18	35	125				
ITGBL1	9358	broad.mit.edu	37	13	102366809	102366809	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr13:102366809G>T	ENST00000376180.3	+	10	1520	c.1301G>T	c.(1300-1302)tGc>tTc	p.C434F	ITGBL1_ENST00000545560.2_Missense_Mutation_p.C293F|ITGBL1_ENST00000376162.3_Missense_Mutation_p.C341F|RP11-397O8.7_ENST00000606869.1_lincRNA	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	434	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)				breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGTGGGAAGTGCATTTGTTCT	0.408																																							uc001vpb.2		NA																	0				ovary(1)|skin(1)	2						c.(1300-1302)TGC>TTC		integrin, beta-like 1 (with EGF-like repeat							426.0	392.0	403.0					13																	102366809		2203	4300	6503	SO:0001583	missense	9358				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity	g.chr13:102366809G>T	AF072752	CCDS9499.1, CCDS61361.1, CCDS61362.1, CCDS73594.1	13q33	2008-07-18			ENSG00000198542	ENSG00000198542			6164	protein-coding gene	gene with protein product	"""ten integrin EGF-like repeat domains protein"", ""ITGBL1, integrin beta-like 1"""	604234				10051402	Standard	NM_004791		Approved	TIED, OSCP	uc001vpb.4	O95965	OTTHUMG00000017296	ENST00000376180.3:c.1301G>T	13.37:g.102366809G>T	ENSP00000365351:p.Cys434Phe					ITGBL1_uc010agb.2_Missense_Mutation_p.C385F|ITGBL1_uc001vpc.3_Missense_Mutation_p.C293F	p.C434F	NM_004791	NP_004782	O95965	ITGBL_HUMAN			10	1520	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		434			IX.|Cysteine-rich tandem repeats.		A8K5M5|B3KTP1|B4DQ02|Q8N172|Q9NPR0	Missense_Mutation	SNP	ENST00000376180.3	37	c.1301G>T	CCDS9499.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669282	0.88348	.	.	ENSG00000198542	ENST00000376180;ENST00000537118;ENST00000539955;ENST00000545560;ENST00000376162	D;D;D	0.97831	-4.56;-4.56;-4.56	6.16	6.16	0.99307	.	0.041188	0.85682	D	0.000000	D	0.99333	0.9766	H	0.97240	3.965	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.994;0.998	D	0.98579	1.0649	10	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	293;434	B3KTP1;O95965	.;ITGBL_HUMAN	F	434;342;293;293;341	ENSP00000365351:C434F;ENSP00000439903:C293F;ENSP00000365332:C341F	ENSP00000365332:C341F	C	+	2	0	ITGBL1	101164810	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.476000	0.97823	2.937000	0.99478	0.650000	0.86243	TGC		0.408	ITGBL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045669.2	NM_004791		35	110	1	0	3.21399e-22	0.004878	5.4682e-22	35	110				
COL4A1	1282	broad.mit.edu	37	13	110814614	110814614	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr13:110814614G>T	ENST00000375820.4	-	48	4546	c.4425C>A	c.(4423-4425)taC>taA	p.Y1475*	COL4A1_ENST00000467182.1_5'UTR	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1475	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TGCCTTGCACGTAGAGCAAAG	0.502																																							uc001vqw.3		NA																	0				ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6						c.(4423-4425)TAC>TAA		alpha 1 type IV collagen preproprotein							293.0	284.0	287.0					13																	110814614		2203	4300	6503	SO:0001587	stop_gained	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110814614G>T	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.4425C>A	13.37:g.110814614G>T	ENSP00000364979:p.Tyr1475*					COL4A1_uc010agl.2_Intron	p.Y1475*	NM_001845	NP_001836	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		48	4547	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	1475			Collagen IV NC1.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Nonsense_Mutation	SNP	ENST00000375820.4	37	c.4425C>A	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	G	41	9.150365	0.99082	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198	.	.	.	4.83	-0.0888	0.13671	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.7211	0.40304	0.6282:0.0:0.3718:0.0	.	.	.	.	X	1118;1475;1124	.	ENSP00000364973:Y1118X	Y	-	3	2	COL4A1	109612615	0.888000	0.30383	0.997000	0.53966	0.484000	0.33280	-0.010000	0.12743	-0.048000	0.13401	-1.036000	0.02392	TAC		0.502	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			69	208	1	0	2.65773e-34	0.00361	4.79617e-34	69	208				
MCF2L	23263	broad.mit.edu	37	13	113741727	113741727	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr13:113741727G>T	ENST00000375608.3	+	23	2700	c.2642G>T	c.(2641-2643)gGg>gTg	p.G881V	MCF2L_ENST00000397030.1_Missense_Mutation_p.G884V|MCF2L_ENST00000375601.3_Missense_Mutation_p.G855V|MCF2L_ENST00000375604.2_Missense_Mutation_p.G908V|MCF2L_ENST00000423482.2_Missense_Mutation_p.G849V|MCF2L_ENST00000375597.4_Missense_Mutation_p.G849V|MCF2L_ENST00000434480.2_Missense_Mutation_p.G857V|MCF2L_ENST00000421756.1_Missense_Mutation_p.G855V|MCF2L_ENST00000535094.2_Missense_Mutation_p.G851V|MCF2L_ENST00000442652.2_Missense_Mutation_p.G881V			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	881	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				AATGGGGAGGGGTATGAGAAA	0.592																																							uc001vsu.2		NA																	0				ovary(1)|kidney(1)	2						c.(2722-2724)GGG>GTG		MCF.2 cell line derived transforming							57.0	47.0	50.0					13																	113741727		2203	4299	6502	SO:0001583	missense	23263				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr13:113741727G>T	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.2642G>T	13.37:g.113741727G>T	ENSP00000364758:p.Gly881Val					MCF2L_uc001vsq.2_Missense_Mutation_p.G908V|MCF2L_uc010tjr.1_Missense_Mutation_p.G851V|MCF2L_uc001vsr.2_Missense_Mutation_p.G855V|MCF2L_uc001vss.3_Missense_Mutation_p.G849V|MCF2L_uc010tjs.1_Missense_Mutation_p.G849V|MCF2L_uc001vst.1_Missense_Mutation_p.G813V	p.G908V	NM_001112732	NP_001106203	O15068	MCF2L_HUMAN			22	2745	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)	881			PH.		A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	ENST00000375608.3	37	c.2723G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.90|15.90	2.968911|2.968911	0.53614|0.53614	.|.	.|.	ENSG00000126217|ENSG00000126217	ENST00000413354;ENST00000261963|ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000423482;ENST00000375597;ENST00000440749	T;T|T;T;T;T;T;T;T;T;T;T	0.19105|0.19105	2.17;2.17|2.17;2.17;2.17;2.17;2.17;2.17;2.17;2.17;2.17;2.17	4.57|4.57	4.57|4.57	0.56435|0.56435	.|Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.58509|0.58509	0.2127|0.2127	M|M	0.93283|0.93283	3.4|3.4	0.80722|0.80722	D|D	1|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;1.0;1.0	T|T	0.72737|0.72737	-0.4203|-0.4203	8|10	0.87932|0.87932	D|D	0|0	.|.	17.729|17.729	0.88372|0.88372	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|849;851;908;849;881	.|E9PDN8;O15068-9;G5E9A1;O15068-4;O15068	.|.;.;.;.;MCF2L_HUMAN	C|V	81;22|881;881;908;884;851;855;855;857;849;849;692	ENSP00000407392:G81C;ENSP00000261963:G22C|ENSP00000364758:G881V;ENSP00000401422:G881V;ENSP00000364754:G908V;ENSP00000380225:G884V;ENSP00000440374:G851V;ENSP00000397285:G855V;ENSP00000364751:G855V;ENSP00000407722:G857V;ENSP00000405639:G849V;ENSP00000364747:G849V	ENSP00000261963:G22C|ENSP00000364747:G849V	G|G	+|+	1|2	0|0	MCF2L|MCF2L	112789728|112789728	1.000000|1.000000	0.71417|0.71417	0.937000|0.937000	0.37676|0.37676	0.018000|0.018000	0.09664|0.09664	9.542000|9.542000	0.98086|0.98086	2.234000|2.234000	0.73211|0.73211	0.655000|0.655000	0.94253|0.94253	GGT|GGG		0.592	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4			8	8	1	0	0.00307968	0.00308	0.00328514	8	8				
OR4M1	441670	broad.mit.edu	37	14	20249337	20249337	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:20249337C>A	ENST00000315957.4	+	1	937	c.856C>A	c.(856-858)Ccc>Acc	p.P286T		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	286						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTTACTTAATCCCATTATTTA	0.368																																							uc010tku.1		NA																	0					0						c.(856-858)CCC>ACC		olfactory receptor, family 4, subfamily M,							107.0	106.0	106.0					14																	20249337		2203	4300	6503	SO:0001583	missense	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20249337C>A		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.856C>A	14.37:g.20249337C>A	ENSP00000319654:p.Pro286Thr						p.P286T	NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	856	+	all_cancers(95;0.00108)		286			Helical; Name=7; (Potential).		B9EH18|Q6IFA3	Missense_Mutation	SNP	ENST00000315957.4	37	c.856C>A	CCDS32021.1	.	.	.	.	.	.	.	.	.	.	.	13.98	2.398262	0.42512	.	.	ENSG00000176299	ENST00000315957	T	0.63913	-0.07	4.42	4.42	0.53409	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000149	D	0.85013	0.5600	H	0.96398	3.815	0.48341	D	0.99963	D	0.89917	1.0	D	0.87578	0.998	D	0.89690	0.3897	10	0.87932	D	0	-17.4385	14.9222	0.70847	0.0:1.0:0.0:0.0	.	286	Q8NGD0	OR4M1_HUMAN	T	286	ENSP00000319654:P286T	ENSP00000319654:P286T	P	+	1	0	OR4M1	19319177	1.000000	0.71417	1.000000	0.80357	0.687000	0.40016	7.025000	0.76449	2.468000	0.83385	0.506000	0.49869	CCC		0.368	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			7	83	1	0	2.0095e-06	0.001984	2.44928e-06	7	83				
OR4N2	390429	broad.mit.edu	37	14	20295891	20295891	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:20295891G>A	ENST00000315947.1	+	1	284	c.284G>A	c.(283-285)aGa>aAa	p.R95K	OR4N2_ENST00000568211.1_Missense_Mutation_p.R95K	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATCTCCTACAGAGGCTGCATC	0.527																																							uc010tkv.1		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(283-285)AGA>AAA		olfactory receptor, family 4, subfamily N,							132.0	148.0	143.0					14																	20295891		2203	4300	6503	SO:0001583	missense	390429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20295891G>A		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.284G>A	14.37:g.20295891G>A	ENSP00000319601:p.Arg95Lys						p.R95K	NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	284	+	all_cancers(95;0.00108)		95			Extracellular (Potential).		Q6IEY9|Q6IFA2	Missense_Mutation	SNP	ENST00000315947.1	37	c.284G>A	CCDS32022.1	.	.	.	.	.	.	.	.	.	.	.	3.128	-0.179095	0.06380	.	.	ENSG00000176294	ENST00000557677;ENST00000315947	T;T	0.00388	7.59;7.59	4.53	-2.09	0.07232	GPCR, rhodopsin-like superfamily (1);	0.468801	0.18702	N	0.133555	T	0.00144	0.0004	N	0.13272	0.32	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.27331	-1.0077	10	0.10636	T	0.68	-0.8911	5.1453	0.14981	0.449:0.2781:0.2729:0.0	.	95	Q8NGD1	OR4N2_HUMAN	K	95	ENSP00000452022:R95K;ENSP00000319601:R95K	ENSP00000319601:R95K	R	+	2	0	OR4N2	19365731	0.000000	0.05858	0.494000	0.27515	0.966000	0.64601	-4.170000	0.00281	-0.553000	0.06158	-0.218000	0.12543	AGA		0.527	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			26	270	0	0	0	0.009535	0	26	270				
OR4K15	81127	broad.mit.edu	37	14	20444345	20444345	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:20444345T>G	ENST00000305051.5	+	1	743	c.668T>G	c.(667-669)aTa>aGa	p.I223R		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	223						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGCTTACTAATAGTTGCAGAT	0.423																																							uc010tkx.1		NA																	0				ovary(1)	1						c.(667-669)ATA>AGA		olfactory receptor, family 4, subfamily K,							177.0	169.0	172.0					14																	20444345		2203	4300	6503	SO:0001583	missense	81127				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20444345T>G		CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"""GPCR / Class A : Olfactory receptors"""	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	ENST00000305051.5:c.668T>G	14.37:g.20444345T>G	ENSP00000304077:p.Ile223Arg						p.I223R	NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	668	+	all_cancers(95;0.00108)		223			Helical; Name=5; (Potential).		B9EIL3|Q6IEZ4	Missense_Mutation	SNP	ENST00000305051.5	37	c.668T>G	CCDS32026.1	.	.	.	.	.	.	.	.	.	.	.	9.613	1.131902	0.21041	.	.	ENSG00000169488	ENST00000305051	T	0.00174	8.62	3.98	3.98	0.46160	GPCR, rhodopsin-like superfamily (1);	0.112509	0.38897	N	0.001526	T	0.00468	0.0015	M	0.80982	2.52	0.20764	N	0.999854	D	0.58620	0.983	P	0.60886	0.88	T	0.36866	-0.9730	10	0.87932	D	0	.	10.8637	0.46842	0.0:0.0:0.0:1.0	.	223	Q8NH41	OR4KF_HUMAN	R	223	ENSP00000304077:I223R	ENSP00000304077:I223R	I	+	2	0	OR4K15	19514185	0.000000	0.05858	0.272000	0.24630	0.243000	0.25628	0.569000	0.23638	1.661000	0.50771	0.477000	0.44152	ATA		0.423	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409883.1			35	101	0	0	0	0.00623	0	35	101				
OR4N5	390437	broad.mit.edu	37	14	20612059	20612059	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:20612059C>T	ENST00000333629.1	+	1	165	c.165C>T	c.(163-165)ctC>ctT	p.L55L	RNA5SP381_ENST00000516076.1_RNA	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	55						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		ACCCTGGGCTCACAGCCCCCC	0.463																																							uc010tla.1		NA																	0				ovary(1)	1						c.(163-165)CTC>CTT		olfactory receptor, family 4, subfamily N,							202.0	206.0	205.0					14																	20612059		2203	4300	6503	SO:0001819	synonymous_variant	390437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20612059C>T		CCDS32031.1	14q11.2	2013-09-23			ENSG00000184394	ENSG00000184394		"""GPCR / Class A : Olfactory receptors"""	15358	protein-coding gene	gene with protein product							Standard	NM_001004724		Approved		uc010tla.2	Q8IXE1	OTTHUMG00000170784	ENST00000333629.1:c.165C>T	14.37:g.20612059C>T							p.L55L	NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)	1	165	+	all_cancers(95;0.00108)		55			Cytoplasmic (Potential).		Q6IF11	Silent	SNP	ENST00000333629.1	37	c.165C>T	CCDS32031.1																																																																																				0.463	OR4N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410347.1			54	180	0	0	0	0.00361	0	54	180				
TEP1	7011	broad.mit.edu	37	14	20849739	20849739	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:20849739C>A	ENST00000262715.5	-	31	4571	c.4531G>T	c.(4531-4533)Gag>Tag	p.E1511*	TEP1_ENST00000556935.1_Nonsense_Mutation_p.E1403*|TEP1_ENST00000545983.1_Intron	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1511					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GCCGTGTCCTCTAGCCCTGGC	0.647																																							uc001vxe.2		NA																	0				ovary(5)	5						c.(4531-4533)GAG>TAG		telomerase-associated protein 1							158.0	138.0	145.0					14																	20849739		2203	4300	6503	SO:0001587	stop_gained	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20849739C>A		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.4531G>T	14.37:g.20849739C>A	ENSP00000262715:p.Glu1511*					TEP1_uc010ahk.2_Nonsense_Mutation_p.E854*|TEP1_uc010tlf.1_Intron|TEP1_uc010tlg.1_Nonsense_Mutation_p.E1403*|TEP1_uc010tlh.1_Intron	p.E1511*	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	31	4571	-	all_cancers(95;0.00123)	all_lung(585;0.235)	1511					A0AUV9	Nonsense_Mutation	SNP	ENST00000262715.5	37	c.4531G>T	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	C	42	9.266043	0.99118	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	.	.	.	5.42	2.12	0.27331	.	0.401240	0.27881	N	0.017464	.	.	.	.	.	.	0.22982	N	0.998473	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-13.0223	7.4771	0.27382	0.0:0.6778:0.1439:0.1783	.	.	.	.	X	1511;1511;1403	.	ENSP00000262715:E1511X	E	-	1	0	TEP1	19919579	0.050000	0.20438	0.053000	0.19242	0.602000	0.36980	-0.059000	0.11731	0.658000	0.30925	0.563000	0.77884	GAG		0.647	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		36	102	1	0	2.95478e-19	0.00874	4.87112e-19	36	102				
TEP1	7011	broad.mit.edu	37	14	20872851	20872851	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:20872851C>T	ENST00000262715.5	-	5	991	c.951G>A	c.(949-951)gcG>gcA	p.A317A	TEP1_ENST00000556935.1_Intron	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	317	TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GGGGGCGACACGCCGGCAAGA	0.552																																							uc001vxe.2		NA																	0				ovary(5)	5						c.(949-951)GCG>GCA		telomerase-associated protein 1							81.0	77.0	78.0					14																	20872851		2203	4300	6503	SO:0001819	synonymous_variant	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20872851C>T		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.951G>A	14.37:g.20872851C>T						TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Intron	p.A317A	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	5	991	-	all_cancers(95;0.00123)	all_lung(585;0.235)	317			TROVE.		A0AUV9	Silent	SNP	ENST00000262715.5	37	c.951G>A	CCDS9548.1																																																																																				0.552	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		25	47	0	0	0	0.00632	0	25	47				
RNASE12	493901	broad.mit.edu	37	14	21058504	21058504	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:21058504C>A	ENST00000556526.1	-	1	478	c.379G>T	c.(379-381)Gag>Tag	p.E127*	RNASE11_ENST00000398009.2_5'Flank|RNASE11_ENST00000432835.2_5'Flank|RP11-14J7.6_ENST00000553604.1_RNA|RNASE11_ENST00000610205.1_5'Flank|RP11-14J7.6_ENST00000554006.1_RNA|RNASE11_ENST00000555283.1_Intron|RNASE11_ENST00000555841.1_5'Flank|RP11-14J7.6_ENST00000554993.1_RNA|RNASE11_ENST00000553849.1_5'Flank|RP11-14J7.6_ENST00000556487.1_RNA|RP11-14J7.6_ENST00000554529.1_RNA|RNASE11_ENST00000398008.2_5'Flank	NM_001024822.2	NP_001019993.1	Q5GAN4	RNS12_HUMAN	ribonuclease, RNase A family, 12 (non-active)	127						extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)			kidney(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.013)		ACAAACCCCTCTGTGGGGGAA	0.453																																							uc001vxt.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(379-381)GAG>TAG		ribonuclease, RNase A family, 12 (non-active)							77.0	77.0	77.0					14																	21058504		2203	4300	6503	SO:0001587	stop_gained	493901					extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21058504C>A		CCDS32037.1	14q11.1	2012-10-05			ENSG00000258436	ENSG00000258436		"""Ribonucleases, RNase A"""	24211	protein-coding gene	gene with protein product							Standard	NM_001024822		Approved		uc001vxt.3	Q5GAN4	OTTHUMG00000170991	ENST00000556526.1:c.379G>T	14.37:g.21058504C>A	ENSP00000450580:p.Glu127*					RNASE11_uc010ahv.2_5'Flank|RNASE11_uc010ahx.2_5'Flank|RNASE11_uc010ahw.2_5'Flank|RNASE11_uc001vxs.2_5'Flank|uc001vxu.1_5'Flank	p.E127*	NM_001024822	NP_001019993	Q5GAN4	RNS12_HUMAN	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.013)	1	479	-	all_cancers(95;0.00238)		127						Nonsense_Mutation	SNP	ENST00000556526.1	37	c.379G>T	CCDS32037.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.642097	0.47153	.	.	ENSG00000258436;ENSG00000206171	ENST00000556526;ENST00000382999	.	.	.	4.91	-0.587	0.11690	.	1.331680	0.04814	N	0.435738	.	.	.	.	.	.	0.37472	D	0.915641	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-2.3179	1.0748	0.01629	0.1507:0.4074:0.1706:0.2714	.	.	.	.	X	127	.	ENSP00000372460:E127X	E	-	1	0	RNASE12;AL163195.1	20128344	0.037000	0.19845	0.017000	0.16124	0.408000	0.30992	0.087000	0.14958	0.058000	0.16222	0.655000	0.94253	GAG		0.453	RNASE12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411107.1			21	49	1	0	4.54149e-19	0.002299	7.47861e-19	21	49				
RPGRIP1	57096	broad.mit.edu	37	14	21779997	21779997	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:21779997G>A	ENST00000400017.2	+	8	945	c.945G>A	c.(943-945)ctG>ctA	p.L315L	RPGRIP1_ENST00000556336.1_Silent_p.L288L|RPGRIP1_ENST00000206660.6_Silent_p.L315L|RPGRIP1_ENST00000557771.1_Silent_p.L288L	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	315					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		AGGGAATCCTGAGTGCAGCCC	0.517																																							uc001wag.2		NA																	0				ovary(4)|breast(2)|pancreas(1)	7						c.(943-945)CTG>CTA		retinitis pigmentosa GTPase regulator							44.0	43.0	43.0					14																	21779997		1931	4139	6070	SO:0001819	synonymous_variant	57096				response to stimulus|visual perception	cilium		g.chr14:21779997G>A	AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.945G>A	14.37:g.21779997G>A							p.L315L	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)	8	945	+	all_cancers(95;0.0017)	all_cancers(140;0.0973)	315			Potential.		Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Silent	SNP	ENST00000400017.2	37	c.945G>A	CCDS45080.1																																																																																				0.517	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	NM_020366		4	11	0	0	0	0.001168	0	4	11				
SUPT16H	11198	broad.mit.edu	37	14	21852072	21852072	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:21852072C>T	ENST00000216297.2	-	1	353	c.15G>A	c.(13-15)ctG>ctA	p.L5L	SUPT16H_ENST00000555943.1_Silent_p.L5L|RP11-524O1.4_ENST00000565098.1_RNA	NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	5					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CGTCTTTGTCCAGAGTCACAG	0.592																																							uc001wao.2		NA																	0					0						c.(13-15)CTG>CTA		chromatin-specific transcription elongation							69.0	70.0	70.0					14																	21852072		2203	4300	6503	SO:0001819	synonymous_variant	11198				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding	g.chr14:21852072C>T	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.15G>A	14.37:g.21852072C>T						SUPT16H_uc001wap.2_Silent_p.L5L|SUPT16H_uc001waq.1_Silent_p.L5L	p.L5L	NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)	1	354	-	all_cancers(95;0.00115)		5					Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Silent	SNP	ENST00000216297.2	37	c.15G>A	CCDS9569.1																																																																																				0.592	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2			20	44	0	0	0	0.00333	0	20	44				
TOX4	9878	broad.mit.edu	37	14	21960676	21960676	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:21960676G>A	ENST00000405508.1	+	8	1177	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	TOX4_ENST00000262709.3_Missense_Mutation_p.E301K|TOX4_ENST00000448790.2_Missense_Mutation_p.E278K			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	301						chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		GGCCACTGTGGAAACAGTGGA	0.413																																							uc001waz.2		NA																	0				ovary(1)	1						c.(901-903)GAA>AAA		epidermal Langerhans cell protein LCP1							121.0	115.0	117.0					14																	21960676		2203	4300	6503	SO:0001583	missense	9878					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding	g.chr14:21960676G>A	AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203			20161	protein-coding gene	gene with protein product		614032	"""chromosome 14 open reading frame 92"", ""KIAA0737"""	C14orf92, KIAA0737			Standard	NM_014828		Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.901G>A	14.37:g.21960676G>A	ENSP00000385102:p.Glu301Lys					TOX4_uc001way.2_Missense_Mutation_p.E171K|TOX4_uc001wba.2_RNA|TOX4_uc010tlu.1_Missense_Mutation_p.E278K|TOX4_uc010tlv.1_Missense_Mutation_p.E171K	p.E301K	NM_014828	NP_055643	O94842	TOX4_HUMAN	Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)	7	1004	+	all_cancers(95;0.000465)		301					B4DPY8|B4DSM0|E7EV69	Missense_Mutation	SNP	ENST00000405508.1	37	c.901G>A	CCDS32043.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.430835	0.83776	.	.	ENSG00000092203	ENST00000405508;ENST00000262709;ENST00000448790;ENST00000545559	T;T;T	0.43688	0.94;0.94;0.94	4.8	4.8	0.61643	High mobility group, superfamily (1);	0.211702	0.47455	D	0.000229	T	0.39009	0.1062	L	0.32530	0.975	0.80722	D	1	P;P	0.52842	0.956;0.948	P;B	0.45119	0.47;0.332	T	0.32587	-0.9901	10	0.54805	T	0.06	.	17.1232	0.86707	0.0:0.0:1.0:0.0	.	278;301	B4DPY8;O94842	.;TOX4_HUMAN	K	301;301;278;229	ENSP00000385102:E301K;ENSP00000262709:E301K;ENSP00000393080:E278K	ENSP00000262709:E301K	E	+	1	0	TOX4	21030516	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.245000	0.78237	2.656000	0.90262	0.484000	0.47621	GAA		0.413	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317287.2	NM_014828		39	114	0	0	0	0.00361	0	39	114				
ACIN1	22985	broad.mit.edu	37	14	23538785	23538785	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:23538785C>A	ENST00000262710.1	-	9	2666	c.2339G>T	c.(2338-2340)aGa>aTa	p.R780I	ACIN1_ENST00000555053.1_Missense_Mutation_p.R780I|ACIN1_ENST00000357481.2_Missense_Mutation_p.R22I|ACIN1_ENST00000555352.1_5'UTR|ACIN1_ENST00000605057.1_Missense_Mutation_p.R722I|ACIN1_ENST00000557515.1_Missense_Mutation_p.R22I|ACIN1_ENST00000397341.3_Missense_Mutation_p.R22I|ACIN1_ENST00000457657.1_Missense_Mutation_p.R740I|ACIN1_ENST00000338631.6_Missense_Mutation_p.R53I	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	780					apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		ATTTTCAGGTCTGTTTTCACT	0.537											OREG0022596	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001wit.3		NA																	0				ovary(2)|large_intestine(1)|skin(1)	4						c.(2338-2340)AGA>ATA		apoptotic chromatin condensation inducer 1							162.0	127.0	139.0					14																	23538785		2203	4300	6503	SO:0001583	missense	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23538785C>A	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.2339G>T	14.37:g.23538785C>A	ENSP00000262710:p.Arg780Ile		OREG0022596	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	764	ACIN1_uc001wio.3_RNA|ACIN1_uc001wip.3_Missense_Mutation_p.R22I|ACIN1_uc001wiq.3_Missense_Mutation_p.R22I|ACIN1_uc001wir.3_Missense_Mutation_p.R53I|ACIN1_uc001wis.3_Missense_Mutation_p.R462I|ACIN1_uc010akg.2_Missense_Mutation_p.R780I	p.R780I	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	9	2667	-	all_cancers(95;1.36e-05)		780					B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	c.2339G>T	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.757228	0.89843	.	.	ENSG00000100813	ENST00000557515;ENST00000338631;ENST00000357481;ENST00000262710;ENST00000457657;ENST00000397341;ENST00000555053;ENST00000555566	T;T;T;T;T;T	0.05717	3.4;3.42;3.4;3.4;3.42;3.46	6.17	6.17	0.99709	.	0.000000	0.44902	D	0.000411	T	0.17789	0.0427	L	0.40543	1.245	0.58432	D	0.999995	D;D;D;B;D	0.64830	0.985;0.974;0.974;0.225;0.994	P;P;P;B;D	0.71870	0.85;0.789;0.716;0.048;0.975	T	0.00500	-1.1703	10	0.30854	T	0.27	-10.754	17.7962	0.88572	0.0:1.0:0.0:0.0	.	780;780;740;53;22	G3V3M7;Q9UKV3;E7EQT4;Q9UKV3-2;Q9UKV3-3	.;ACINU_HUMAN;.;.;.	I	22;53;22;780;740;22;780;22	ENSP00000345541:R53I;ENSP00000350073:R22I;ENSP00000262710:R780I;ENSP00000405677:R740I;ENSP00000380502:R22I;ENSP00000451328:R780I	ENSP00000262710:R780I	R	-	2	0	ACIN1	22608625	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.636000	0.37144	2.941000	0.99782	0.655000	0.94253	AGA		0.537	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		13	31	1	0	3.27435e-08	0.00245	4.26728e-08	13	31				
ACIN1	22985	broad.mit.edu	37	14	23547448	23547448	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:23547448C>T	ENST00000262710.1	-	8	2536	c.2209G>A	c.(2209-2211)Gag>Aag	p.E737K	ACIN1_ENST00000555053.1_Missense_Mutation_p.E737K|ACIN1_ENST00000555352.1_5'UTR|ACIN1_ENST00000605057.1_Missense_Mutation_p.E679K|ACIN1_ENST00000457657.1_Missense_Mutation_p.E697K	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	737					apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GGCTCTGCCTCTTCAGCTTCA	0.473																																							uc001wit.3		NA																	0				ovary(2)|large_intestine(1)|skin(1)	4						c.(2209-2211)GAG>AAG		apoptotic chromatin condensation inducer 1							187.0	175.0	179.0					14																	23547448		2203	4300	6503	SO:0001583	missense	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23547448C>T	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.2209G>A	14.37:g.23547448C>T	ENSP00000262710:p.Glu737Lys					ACIN1_uc001wis.3_Missense_Mutation_p.E419K|ACIN1_uc010akg.2_Missense_Mutation_p.E737K	p.E737K	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	8	2537	-	all_cancers(95;1.36e-05)		737					B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	c.2209G>A	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.902433	0.92035	.	.	ENSG00000100813	ENST00000262710;ENST00000457657;ENST00000555053	T;T;T	0.06849	3.25;3.25;3.41	5.99	5.99	0.97316	.	0.000000	0.40222	N	0.001151	T	0.14917	0.0360	L	0.40543	1.245	0.46396	D	0.999027	P;P;P	0.52692	0.955;0.924;0.924	P;P;P	0.53401	0.725;0.535;0.535	T	0.01767	-1.1278	10	0.27082	T	0.32	-8.8121	15.9778	0.80083	0.0:1.0:0.0:0.0	.	737;737;697	G3V3M7;Q9UKV3;E7EQT4	.;ACINU_HUMAN;.	K	737;697;737	ENSP00000262710:E737K;ENSP00000405677:E697K;ENSP00000451328:E737K	ENSP00000262710:E737K	E	-	1	0	ACIN1	22617288	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.549000	0.53681	2.840000	0.97914	0.655000	0.94253	GAG		0.473	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		39	84	0	0	0	0.007835	0	39	84				
ACIN1	22985	broad.mit.edu	37	14	23562726	23562726	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:23562726G>A	ENST00000262710.1	-	2	667	c.340C>T	c.(340-342)Cac>Tac	p.H114Y	ACIN1_ENST00000555053.1_Missense_Mutation_p.H114Y|ACIN1_ENST00000605057.1_Missense_Mutation_p.H56Y|C14orf119_ENST00000319074.4_5'Flank|ACIN1_ENST00000457657.1_Missense_Mutation_p.H114Y|C14orf119_ENST00000554203.1_5'Flank	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	114					apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GGTGTTGAGTGTTTCTGTAAA	0.433																																							uc001wit.3		NA																	0				ovary(2)|large_intestine(1)|skin(1)	4						c.(340-342)CAC>TAC		apoptotic chromatin condensation inducer 1							149.0	133.0	139.0					14																	23562726		2203	4300	6503	SO:0001583	missense	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23562726G>A	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.340C>T	14.37:g.23562726G>A	ENSP00000262710:p.His114Tyr					ACIN1_uc010akg.2_Missense_Mutation_p.H114Y|ACIN1_uc010tnj.1_Missense_Mutation_p.H114Y|C14orf119_uc001wiu.2_5'Flank	p.H114Y	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	2	668	-	all_cancers(95;1.36e-05)		114					B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	c.340C>T	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.839056	0.71373	.	.	ENSG00000100813	ENST00000262710;ENST00000457657;ENST00000555053	T;T;T	0.15487	2.42;2.44;2.42	5.13	5.13	0.70059	.	0.000000	0.38605	N	0.001623	T	0.33731	0.0873	L	0.40543	1.245	0.32542	N	0.533505	D;P	0.53745	0.962;0.936	D;P	0.66716	0.946;0.885	T	0.32161	-0.9917	10	0.62326	D	0.03	-8.5011	17.3407	0.87294	0.0:0.0:1.0:0.0	.	114;114	G3V3M7;Q9UKV3	.;ACINU_HUMAN	Y	114	ENSP00000262710:H114Y;ENSP00000405677:H114Y;ENSP00000451328:H114Y	ENSP00000262710:H114Y	H	-	1	0	ACIN1	22632566	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.911000	0.56378	2.398000	0.81561	0.555000	0.69702	CAC		0.433	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		18	48	0	0	0	0.010504	0	18	48				
MYH7	4625	broad.mit.edu	37	14	23894032	23894032	+	Missense_Mutation	SNP	C	C	G	rs397516159		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:23894032C>G	ENST00000355349.3	-	22	2787	c.2625G>C	c.(2623-2625)gaG>gaC	p.E875D		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	875					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		ACACCATCTTCTCCTCCAGCT	0.587																																							uc001wjx.2		NA																	0				ovary(3)|skin(1)	4						c.(2623-2625)GAG>GAC		myosin, heavy chain 7, cardiac muscle, beta							88.0	75.0	79.0					14																	23894032		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23894032C>G	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.2625G>C	14.37:g.23894032C>G	ENSP00000347507:p.Glu875Asp						p.E875D	NM_000257	NP_000248	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	22	2731	-	all_cancers(95;2.54e-05)		875			Potential.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.2625G>C	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.190283	0.58017	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.83755	-1.76	4.73	3.83	0.44106	.	.	.	.	.	D	0.90625	0.7060	M	0.84326	2.69	0.49130	D	0.999751	D	0.69078	0.997	D	0.79108	0.992	D	0.90639	0.4573	9	0.62326	D	0.03	.	12.5703	0.56332	0.0:0.8536:0.0:0.1464	.	875	P12883	MYH7_HUMAN	D	875	ENSP00000347507:E875D	ENSP00000347507:E875D	E	-	3	2	MYH7	22963872	0.983000	0.35010	1.000000	0.80357	0.954000	0.61252	0.206000	0.17375	0.722000	0.32252	-0.797000	0.03246	GAG		0.587	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		14	28	0	0	0	0.004007	0	14	28				
LRRC16B	90668	broad.mit.edu	37	14	24535820	24535820	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:24535820C>G	ENST00000342740.5	+	36	3791	c.3637C>G	c.(3637-3639)Cca>Gca	p.P1213A	LRRC16B_ENST00000334420.7_Missense_Mutation_p.P266A	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	1213						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		AAGCACCAAACCAAGCTTCAG	0.547																																							uc001wlj.2		NA																	0				ovary(2)|breast(2)|pancreas(1)	5						c.(3637-3639)CCA>GCA		leucine rich repeat containing 16B							75.0	78.0	77.0					14																	24535820		2203	4300	6503	SO:0001583	missense	90668							g.chr14:24535820C>G	AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"""chromosome 14 open reading frame 121"""	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.3637C>G	14.37:g.24535820C>G	ENSP00000340467:p.Pro1213Ala					LRRC16B_uc001wlk.2_Missense_Mutation_p.P266A	p.P1213A	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN		GBM - Glioblastoma multiforme(265;0.019)	36	3794	+			1213					Q8TEF7|Q96HS9	Missense_Mutation	SNP	ENST00000342740.5	37	c.3637C>G	CCDS32054.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.722580	0.68959	.	.	ENSG00000186648	ENST00000342740;ENST00000334420	T;T	0.67865	1.23;-0.29	5.25	4.36	0.52297	.	0.141093	0.33401	N	0.004953	T	0.68384	0.2995	N	0.24115	0.695	0.37808	D	0.927957	B;D	0.76494	0.346;0.999	B;D	0.78314	0.199;0.991	T	0.73291	-0.4029	10	0.59425	D	0.04	-15.8041	9.9653	0.41721	0.0:0.9083:0.0:0.0917	.	266;1213	Q8ND23-2;Q8ND23	.;LR16B_HUMAN	A	1213;266	ENSP00000340467:P1213A;ENSP00000334701:P266A	ENSP00000334701:P266A	P	+	1	0	LRRC16B	23605660	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	4.068000	0.57534	1.591000	0.50007	-0.140000	0.14226	CCA		0.547	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360		10	48	0	0	0	0.00245	0	10	48				
RNF31	55072	broad.mit.edu	37	14	24619987	24619987	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:24619987G>T	ENST00000324103.6	+	8	1698	c.1378G>T	c.(1378-1380)Ggg>Tgg	p.G460W	RNF31_ENST00000559275.1_Missense_Mutation_p.G309W|RNF31_ENST00000382687.3_Missense_Mutation_p.G309W|RP11-468E2.4_ENST00000558468.1_5'Flank	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	460	Polyubiquitin-binding.				CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		CCCCAAGCCTGGGCCCCCACG	0.612																																							uc001wmn.1		NA																	0				large_intestine(1)|ovary(1)	2						c.(1378-1380)GGG>TGG		ring finger protein 31							50.0	57.0	55.0					14																	24619987		1888	4093	5981	SO:0001583	missense	55072				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:24619987G>T	AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"""RING-type (C3HC4) zinc fingers"""	16031	protein-coding gene	gene with protein product	"""HOIL-1-interacting protein"""	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.1378G>T	14.37:g.24619987G>T	ENSP00000315112:p.Gly460Trp					RNF31_uc001wml.1_Missense_Mutation_p.G309W|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Missense_Mutation_p.G275W|RNF31_uc001wmo.1_5'Flank|RNF31_uc001wmp.2_5'Flank	p.G460W	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN		GBM - Glioblastoma multiforme(265;0.00861)	8	1627	+			460			Polyubiquitin-binding.		A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Missense_Mutation	SNP	ENST00000324103.6	37	c.1378G>T	CCDS41931.1	.	.	.	.	.	.	.	.	.	.	G	6.923	0.539944	0.13250	.	.	ENSG00000092098	ENST00000324103;ENST00000382687	T;T	0.44482	0.92;0.92	5.87	1.73	0.24493	.	1.261880	0.05039	N	0.476008	T	0.46034	0.1372	L	0.54323	1.7	0.09310	N	1	P;P;P	0.49447	0.89;0.661;0.924	B;B;P	0.45829	0.215;0.299;0.494	T	0.41288	-0.9517	10	0.59425	D	0.04	-2.5936	9.7637	0.40548	0.0769:0.4367:0.4865:0.0	.	275;460;309	B3KV71;Q96EP0;Q96EP0-3	.;RNF31_HUMAN;.	W	460;309	ENSP00000315112:G460W;ENSP00000372134:G309W	ENSP00000315112:G460W	G	+	1	0	RNF31	23689827	0.075000	0.21258	0.004000	0.12327	0.065000	0.16274	1.587000	0.36622	0.363000	0.24346	0.655000	0.94253	GGG		0.612	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	NM_017999		19	58	1	0	3.99206e-14	0.007413	6.05116e-14	19	58				
ADCY4	196883	broad.mit.edu	37	14	24798651	24798651	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:24798651G>C	ENST00000310677.4	-	10	1419	c.1306C>G	c.(1306-1308)Ctt>Gtt	p.L436V	ADCY4_ENST00000418030.2_Missense_Mutation_p.L436V|ADCY4_ENST00000396747.3_Missense_Mutation_p.L129V|ADCY4_ENST00000554068.2_Missense_Mutation_p.L436V	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	436					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		AGCTCCCGAAGGTAGGGGTCC	0.632																																							uc001wov.2		NA																	0				ovary(1)|lung(1)|pancreas(1)	3						c.(1306-1308)CTT>GTT		adenylate cyclase 4							67.0	67.0	67.0					14																	24798651		2203	4300	6503	SO:0001583	missense	196883				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24798651G>C	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.1306C>G	14.37:g.24798651G>C	ENSP00000312126:p.Leu436Val					ADCY4_uc001wow.2_Missense_Mutation_p.L436V|ADCY4_uc010toh.1_Missense_Mutation_p.L122V|ADCY4_uc001wox.2_Missense_Mutation_p.L436V|ADCY4_uc001woy.2_Missense_Mutation_p.L436V	p.L436V	NM_139247	NP_640340	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	9	1312	-			436			Cytoplasmic (Potential).		B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Missense_Mutation	SNP	ENST00000310677.4	37	c.1306C>G	CCDS9627.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.180046	0.78564	.	.	ENSG00000129467	ENST00000310677;ENST00000554068;ENST00000418030;ENST00000396747	D;D;D;D	0.85702	-1.92;-1.92;-1.92;-2.02	5.13	5.13	0.70059	Adenylyl cyclase class-3/4/guanylyl cyclase (3);	0.192947	0.26467	N	0.024218	D	0.93294	0.7863	M	0.93241	3.395	0.54753	D	0.999989	D	0.89917	1.0	D	0.97110	1.0	D	0.93492	0.6836	10	0.59425	D	0.04	.	9.4919	0.38965	0.0936:0.0:0.9064:0.0	.	436	Q8NFM4	ADCY4_HUMAN	V	436;436;436;129	ENSP00000312126:L436V;ENSP00000452250:L436V;ENSP00000393177:L436V;ENSP00000379971:L129V	ENSP00000312126:L436V	L	-	1	0	ADCY4	23868491	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	6.584000	0.74057	2.670000	0.90874	0.655000	0.94253	CTT		0.632	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			14	33	0	0	0	0.007413	0	14	33				
CTSG	1511	broad.mit.edu	37	14	25042962	25042962	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:25042962A>G	ENST00000216336.2	-	5	685	c.649T>C	c.(649-651)Tat>Cat	p.Y217H		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	217	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		GACTTTCCATAGGAGACGATG	0.552																																							uc001wpq.2		NA																	0				ovary(2)	2						c.(649-651)TAT>CAT		cathepsin G preproprotein							118.0	128.0	125.0					14																	25042962		2203	4300	6503	SO:0001583	missense	1511				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	g.chr14:25042962A>G	M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"""Cathepsins"", ""Endogenous ligands"""	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.649T>C	14.37:g.25042962A>G	ENSP00000216336:p.Tyr217His						p.Y217H	NM_001911	NP_001902	P08311	CATG_HUMAN		GBM - Glioblastoma multiforme(265;0.0269)	5	686	-			217			Peptidase S1.		Q6IBJ6|Q9UCA5|Q9UCU6	Missense_Mutation	SNP	ENST00000216336.2	37	c.649T>C	CCDS9631.1	.	.	.	.	.	.	.	.	.	.	A	14.55	2.570362	0.45798	.	.	ENSG00000100448	ENST00000216336	D	0.93189	-3.18	4.63	4.63	0.57726	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.34411	N	0.003984	D	0.95249	0.8459	L	0.56199	1.76	0.38245	D	0.941436	B	0.31241	0.315	P	0.56216	0.794	D	0.95611	0.8672	10	0.59425	D	0.04	.	10.9889	0.47539	1.0:0.0:0.0:0.0	.	217	P08311	CATG_HUMAN	H	217	ENSP00000216336:Y217H	ENSP00000216336:Y217H	Y	-	1	0	CTSG	24112802	0.999000	0.42202	1.000000	0.80357	0.180000	0.23129	3.965000	0.56788	2.026000	0.59711	0.448000	0.29417	TAT		0.552	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276536.2	NM_001911		30	83	0	0	0	0.002445	0	30	83				
PRKD1	5587	broad.mit.edu	37	14	30105689	30105689	+	Missense_Mutation	SNP	G	G	A	rs146285949		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:30105689G>A	ENST00000331968.5	-	7	1226	c.997C>T	c.(997-999)Cct>Tct	p.P333S	PRKD1_ENST00000551644.1_5'UTR|PRKD1_ENST00000415220.2_Missense_Mutation_p.P341S	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	333					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TCTGCCCCAGGGCTAAGCAAA	0.438																																							uc001wqh.2		NA																	0				lung(3)|large_intestine(2)|ovary(2)|skin(1)	8						c.(997-999)CCT>TCT		protein kinase D1		G	SER/PRO	2,4404	4.2+/-10.8	0,2,2201	151.0	121.0	131.0		997	6.2	1.0	14	dbSNP_134	131	0,8600		0,0,4300	yes	missense	PRKD1	NM_002742.2	74	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	333/913	30105689	2,13004	2203	4300	6503	SO:0001583	missense	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30105689G>A		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.997C>T	14.37:g.30105689G>A	ENSP00000333568:p.Pro333Ser						p.P333S	NM_002742	NP_002733	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	7	1178	-	Hepatocellular(127;0.0604)		333					A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	c.997C>T	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.990793	0.35131	4.54E-4	0.0	ENSG00000184304	ENST00000331968;ENST00000415220	T;T	0.64803	-0.12;-0.11	6.17	6.17	0.99709	.	0.067772	0.56097	D	0.000023	T	0.51702	0.1690	L	0.32530	0.975	0.80722	D	1	B	0.17268	0.021	B	0.14023	0.01	T	0.47959	-0.9076	10	0.08837	T	0.75	-20.6819	19.0599	0.93085	0.0:0.0:1.0:0.0	.	333	Q15139	KPCD1_HUMAN	S	333;341	ENSP00000333568:P333S;ENSP00000390535:P341S	ENSP00000333568:P333S	P	-	1	0	PRKD1	29175440	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.175000	0.77632	2.941000	0.99782	0.655000	0.94253	CCT		0.438	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		19	41	0	0	0	0.010504	0	19	41				
G2E3	55632	broad.mit.edu	37	14	31066645	31066645	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:31066645G>T	ENST00000206595.6	+	7	702	c.548G>T	c.(547-549)gGa>gTa	p.G183V	G2E3_ENST00000553504.1_Missense_Mutation_p.G213V|G2E3_ENST00000438909.2_Missense_Mutation_p.G137V|G2E3_ENST00000544007.1_3'UTR	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	183					apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						ATAAATGCGGGAGTGTTTTTC	0.313																																							uc001wqk.2		NA																	0				ovary(2)|skin(1)	3						c.(547-549)GGA>GTA		G2/M-phase specific E3 ubiquitin ligase							150.0	167.0	161.0					14																	31066645		2203	4299	6502	SO:0001583	missense	55632				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding	g.chr14:31066645G>T	AK000340	CCDS9638.1	14q12	2013-01-28	2010-09-17	2009-02-03	ENSG00000092140	ENSG00000092140		"""Zinc fingers, PHD-type"""	20338	protein-coding gene	gene with protein product	"""PHD finger protein 7B"""	611299	"""KIAA1333"""	KIAA1333		18511420, 17239372	Standard	NM_017769		Approved	FLJ20333, PHF7B	uc001wqk.2	Q7L622	OTTHUMG00000140204	ENST00000206595.6:c.548G>T	14.37:g.31066645G>T	ENSP00000206595:p.Gly183Val					G2E3_uc010tpe.1_Missense_Mutation_p.G137V|G2E3_uc010tpf.1_Missense_Mutation_p.G137V	p.G183V	NM_017769	NP_060239	Q7L622	G2E3_HUMAN			7	702	+			183			PHD-type 2; degenerate.		Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Missense_Mutation	SNP	ENST00000206595.6	37	c.548G>T	CCDS9638.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.078577	0.76528	.	.	ENSG00000092140	ENST00000206595;ENST00000438909;ENST00000553504	T;T;T	0.61980	0.06;0.06;0.06	5.67	5.67	0.87782	Zinc finger, RING-type (1);Zinc finger, PHD-type (1);	0.046792	0.85682	D	0.000000	D	0.83133	0.5188	M	0.87827	2.91	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	D	0.85048	0.0927	10	0.87932	D	0	-19.8271	20.1169	0.97940	0.0:0.0:1.0:0.0	.	137;183	B4DIF9;Q7L622	.;G2E3_HUMAN	V	183;137;213	ENSP00000206595:G183V;ENSP00000391068:G137V;ENSP00000451653:G213V	ENSP00000206595:G183V	G	+	2	0	G2E3	30136396	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.378000	0.73150	2.835000	0.97688	0.591000	0.81541	GGA		0.313	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276613.2	NM_017769		34	109	1	0	2.6416e-12	0.00623	3.88532e-12	34	109				
HEATR5A	25938	broad.mit.edu	37	14	31813206	31813206	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:31813206T>A	ENST00000389961.3	-	20	3105	c.3106A>T	c.(3106-3108)Aac>Tac	p.N1036Y	HEATR5A_ENST00000439348.1_Missense_Mutation_p.N1036Y|HEATR5A_ENST00000404677.3_Missense_Mutation_p.N1042Y|HEATR5A_ENST00000543095.2_Missense_Mutation_p.N1042Y|HEATR5A_ENST00000439727.1_Missense_Mutation_p.N749Y			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1036										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		CAGTCTGGGTTATCTTGCATT	0.428																																							uc001wrf.3		NA																	0				ovary(1)	1						c.(2245-2247)AAC>TAC		HEAT repeat containing 5A							73.0	79.0	77.0					14																	31813206		2184	4296	6480	SO:0001583	missense	25938						binding	g.chr14:31813206T>A	AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.3106A>T	14.37:g.31813206T>A	ENSP00000374611:p.Asn1036Tyr					HEATR5A_uc010ami.2_Missense_Mutation_p.N647Y|HEATR5A_uc001wrg.1_Missense_Mutation_p.N631Y|HEATR5A_uc010tpk.1_Missense_Mutation_p.N1042Y	p.N749Y	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)	15	2322	-	Hepatocellular(127;0.0877)|Breast(36;0.137)		1036					Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	ENST00000389961.3	37	c.2245A>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.02|15.02	2.709324|2.709324	0.48517|0.48517	.|.	.|.	ENSG00000129493|ENSG00000129493	ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095;ENST00000404677|ENST00000550366	T;T;T;T;T|.	0.06294|.	3.32;3.32;3.32;3.32;3.32|.	5.98|5.98	3.61|3.61	0.41365|0.41365	Armadillo-type fold (1);|.	0.198126|.	0.51477|.	D|.	0.000087|.	T|.	0.62282|.	0.2415|.	M|M	0.65498|0.65498	2.005|2.005	0.38228|0.38228	D|D	0.940969|0.940969	P;P;B|.	0.38922|.	0.651;0.534;0.257|.	B;B;B|.	0.39419|.	0.299;0.271;0.139|.	T|.	0.61237|.	-0.7103|.	10|.	0.87932|.	D|.	0|.	.|.	8.5355|8.5355	0.33360|0.33360	0.0:0.0677:0.136:0.7962|0.0:0.0677:0.136:0.7962	.|.	1042;1036;1036|.	B5MC49;Q86XA9-2;Q86XA9|.	.;.;HTR5A_HUMAN|.	Y|L	1036;1036;749;1042;1042|684	ENSP00000374611:N1036Y;ENSP00000405407:N1036Y;ENSP00000408681:N749Y;ENSP00000437968:N1042Y;ENSP00000384646:N1042Y|.	ENSP00000374611:N1036Y|.	N|X	-|-	1|2	0|2	HEATR5A|HEATR5A	30882957|30882957	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	1.770000|1.770000	0.38532|0.38532	0.503000|0.503000	0.28060|0.28060	0.528000|0.528000	0.53228|0.53228	AAC|TAA		0.428	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473		9	29	0	0	0	0.004482	0	9	29				
PSMA6	5687	broad.mit.edu	37	14	35780014	35780014	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:35780014G>C	ENST00000261479.4	+	4	442	c.322G>C	c.(322-324)Gag>Cag	p.E108Q	KIAA0391_ENST00000557565.1_3'UTR|PSMA6_ENST00000553809.1_Missense_Mutation_p.E108Q|PSMA6_ENST00000555764.1_Missense_Mutation_p.E29Q|PSMA6_ENST00000556506.1_Missense_Mutation_p.E108Q|PSMA6_ENST00000540871.1_Missense_Mutation_p.E89Q	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	108					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|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 peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of inflammatory response (GO:0050727)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|myofibril (GO:0030016)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysome (GO:0005844)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)|sarcomere (GO:0030017)	endopeptidase activity (GO:0004175)|NF-kappaB binding (GO:0051059)|purine ribonucleoside triphosphate binding (GO:0035639)|RNA binding (GO:0003723)|threonine-type endopeptidase activity (GO:0004298)			kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		GTATGGCTATGAGATTCCTGT	0.423																																							uc001wtd.2		NA																	0					0						c.(322-324)GAG>CAG		proteasome alpha 6 subunit							129.0	115.0	120.0					14																	35780014		2203	4300	6503	SO:0001583	missense	5687				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity	g.chr14:35780014G>C	X59417	CCDS9655.1, CCDS61437.1, CCDS61438.1	14q13	2003-03-12			ENSG00000100902	ENSG00000100902		"""Proteasome (prosome, macropain) subunits"""	9535	protein-coding gene	gene with protein product		602855				1888762, 8811196	Standard	NM_002791		Approved	IOTA, PROS27, p27K, MGC22756, MGC2333, MGC23846	uc001wtd.3	P60900	OTTHUMG00000140221	ENST00000261479.4:c.322G>C	14.37:g.35780014G>C	ENSP00000261479:p.Glu108Gln					KIAA0391_uc001wta.2_RNA|PSMA6_uc010tpt.1_Missense_Mutation_p.E29Q|PSMA6_uc010tpu.1_Missense_Mutation_p.E29Q	p.E108Q	NM_002791	NP_002782	P60900	PSA6_HUMAN	Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)	4	431	+	Breast(36;0.0519)|Hepatocellular(127;0.158)		108					B2R7J9|B4DQR4|B4DXJ9|P34062|Q6IB60	Missense_Mutation	SNP	ENST00000261479.4	37	c.322G>C	CCDS9655.1	.	.	.	.	.	.	.	.	.	.	G	34	5.410504	0.96072	.	.	ENSG00000100902	ENST00000540871;ENST00000261479;ENST00000553809;ENST00000555764;ENST00000556506	T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9	5.55	5.55	0.83447	.	0.043539	0.85682	D	0.000000	T	0.33673	0.0871	M	0.62266	1.93	0.80722	D	1	B	0.19331	0.035	B	0.23852	0.049	T	0.08953	-1.0697	10	0.56958	D	0.05	-8.0034	19.8764	0.96873	0.0:0.0:1.0:0.0	.	108	P60900	PSA6_HUMAN	Q	89;108;108;29;108	ENSP00000444844:E89Q;ENSP00000261479:E108Q;ENSP00000452603:E108Q;ENSP00000452566:E29Q;ENSP00000450528:E108Q	ENSP00000261479:E108Q	E	+	1	0	PSMA6	34849765	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.647000	0.98478	2.768000	0.95171	0.655000	0.94253	GAG		0.423	PSMA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276684.1			26	34	0	0	0	0.00632	0	26	34				
CTAGE5	4253	broad.mit.edu	37	14	39762580	39762580	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:39762580G>T	ENST00000280083.3	+	6	804	c.490G>T	c.(490-492)Gaa>Taa	p.E164*	CTAGE5_ENST00000553352.1_Nonsense_Mutation_p.E135*|RP11-407N17.3_ENST00000603904.1_Nonsense_Mutation_p.E135*|RP11-407N17.3_ENST00000553728.1_Nonsense_Mutation_p.E699*|CTAGE5_ENST00000557038.1_Nonsense_Mutation_p.E84*|CTAGE5_ENST00000556148.1_Nonsense_Mutation_p.E89*|CTAGE5_ENST00000396158.2_Nonsense_Mutation_p.E169*|CTAGE5_ENST00000341502.5_Nonsense_Mutation_p.E164*|CTAGE5_ENST00000396165.4_Nonsense_Mutation_p.E135*|CTAGE5_ENST00000341749.3_Nonsense_Mutation_p.E152*|CTAGE5_ENST00000348007.3_Nonsense_Mutation_p.E164*			O15320	CTGE5_HUMAN	CTAGE family, member 5	164					positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		TGAACAAGATGAATTGGTAAG	0.294																																							uc001wvg.3		NA																	0					0						c.(490-492)GAA>TAA		CTAGE family, member 5 isoform 1							30.0	35.0	33.0					14																	39762580		2194	4291	6485	SO:0001587	stop_gained	4253						enzyme activator activity|protein binding	g.chr14:39762580G>T	U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"""meningioma expressed antigen 6 (coiled-coil proline-rich)"""	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.490G>T	14.37:g.39762580G>T	ENSP00000280083:p.Glu164*					CTAGE5_uc010tqe.1_Nonsense_Mutation_p.E126*|CTAGE5_uc001wuz.3_Nonsense_Mutation_p.E152*|CTAGE5_uc001wuy.3_Nonsense_Mutation_p.E84*|CTAGE5_uc001wvb.3_Nonsense_Mutation_p.E135*|CTAGE5_uc001wvc.3_Nonsense_Mutation_p.E109*|CTAGE5_uc001wva.3_Nonsense_Mutation_p.E135*|CTAGE5_uc001wve.1_Nonsense_Mutation_p.E140*|CTAGE5_uc001wvh.3_Nonsense_Mutation_p.E164*|CTAGE5_uc001wvf.3_Nonsense_Mutation_p.E89*|CTAGE5_uc001wvi.3_Nonsense_Mutation_p.E169*|CTAGE5_uc010amz.2_5'UTR|CTAGE5_uc001wvj.3_Nonsense_Mutation_p.E135*	p.E164*	NM_005930	NP_005921	O15320	CTGE5_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)	6	826	+	Hepatocellular(127;0.213)		164			Potential.		B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Nonsense_Mutation	SNP	ENST00000280083.3	37	c.490G>T	CCDS9674.1	.	.	.	.	.	.	.	.	.	.	G	37	5.992277	0.97179	.	.	ENSG00000258941;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527	ENST00000553728;ENST00000555716;ENST00000341749;ENST00000557038;ENST00000382245;ENST00000396165;ENST00000341502;ENST00000396158;ENST00000280083;ENST00000556148;ENST00000348007;ENST00000553352	.	.	.	5.12	3.22	0.36961	.	0.221425	0.22918	N	0.054045	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.5773	0.33605	0.0849:0.153:0.7621:0.0	.	.	.	.	X	699;126;152;84;126;135;164;169;164;89;164;135	.	.	E	+	1	0	CTAGE5;RP11-407N17.3	38832331	1.000000	0.71417	0.995000	0.50966	0.394000	0.30568	3.109000	0.50345	0.622000	0.30249	0.462000	0.41574	GAA		0.294	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	NM_005930		10	20	1	0	6.40141e-05	0.000978	7.28859e-05	10	20				
FBXO33	254170	broad.mit.edu	37	14	39900943	39900943	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:39900943C>T	ENST00000298097.7	-	1	761	c.424G>A	c.(424-426)Gaa>Aaa	p.E142K	FBXO33_ENST00000554190.1_Missense_Mutation_p.E14K	NM_203301.3	NP_976046.1	Q7Z6M2	FBX33_HUMAN	F-box protein 33	142					protein ubiquitination (GO:0016567)					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)		GCGGCGAATTCAACACGCAGC	0.687																																							uc001wvk.2		NA																	0					0						c.(424-426)GAA>AAA		F-box protein 33							29.0	35.0	33.0					14																	39900943		2203	4294	6497	SO:0001583	missense	254170							g.chr14:39900943C>T	BI460761	CCDS9677.1	14q13.3	2004-08-24	2004-06-15		ENSG00000165355	ENSG00000165355		"""F-boxes /  ""other"""""	19833	protein-coding gene	gene with protein product		609103	"""F-box only protein 33"""				Standard	NM_203301		Approved	Fbx33	uc001wvk.3	Q7Z6M2	OTTHUMG00000140257	ENST00000298097.7:c.424G>A	14.37:g.39900943C>T	ENSP00000298097:p.Glu142Lys						p.E142K	NM_203301	NP_976046	Q7Z6M2	FBX33_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)	1	762	-	Hepatocellular(127;0.213)		142					Q6PIR2|Q86TR2|Q86YE0	Missense_Mutation	SNP	ENST00000298097.7	37	c.424G>A	CCDS9677.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.221898	0.79464	.	.	ENSG00000165355	ENST00000298097;ENST00000554190	T	0.33216	1.42	4.2	4.2	0.49525	.	0.000000	0.85682	D	0.000000	T	0.18635	0.0447	L	0.29908	0.895	0.51482	D	0.999923	P	0.42908	0.793	B	0.32724	0.151	T	0.04621	-1.0938	9	.	.	.	-40.4942	12.6179	0.56588	0.0:0.7747:0.2253:0.0	.	142	Q7Z6M2	FBX33_HUMAN	K	142;14	ENSP00000298097:E142K	.	E	-	1	0	FBXO33	38970694	1.000000	0.71417	0.998000	0.56505	0.238000	0.25445	4.963000	0.63694	1.892000	0.54788	0.313000	0.20887	GAA		0.687	FBXO33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276769.2			19	29	0	0	0	0.00278	0	19	29				
NEMF	9147	broad.mit.edu	37	14	50301084	50301084	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:50301084T>C	ENST00000298310.5	-	7	1107	c.658A>G	c.(658-660)Aaa>Gaa	p.K220E	NEMF_ENST00000545773.1_Missense_Mutation_p.K178E|NEMF_ENST00000546046.1_Missense_Mutation_p.K220E|NEMF_ENST00000556925.1_5'Flank|AL627171.1_ENST00000358799.1_Intron			O60524	NEMF_HUMAN	nuclear export mediator factor	220					nuclear export (GO:0051168)	nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						GACATACCTTTAGTTTCAAGT	0.338																																							uc001wxc.2		NA																	0					0						c.(658-660)AAA>GAA		serologically defined colon cancer antigen 1							80.0	76.0	78.0					14																	50301084		2203	4300	6503	SO:0001583	missense	9147					cytoplasm|nucleus		g.chr14:50301084T>C	AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"""serologically defined colon cancer antigen 1"""	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.658A>G	14.37:g.50301084T>C	ENSP00000298310:p.Lys220Glu					SDCCAG1_uc010anj.1_Missense_Mutation_p.K220E|SDCCAG1_uc010tqi.1_Missense_Mutation_p.K220E|SDCCAG1_uc001wxe.2_Missense_Mutation_p.K178E|SDCCAG1_uc001wxd.1_5'Flank|SDCCAG1_uc010anq.1_Silent_p.L15L	p.K220E	NM_004713	NP_004704	O60524	NEMF_HUMAN		OV - Ovarian serous cystadenocarcinoma(311;5.99e-34)	7	726	-	all_epithelial(31;0.000822)|Breast(41;0.0117)	all_lung(585;1.02e-05)	220					A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Missense_Mutation	SNP	ENST00000298310.5	37	c.658A>G	CCDS9694.1	.	.	.	.	.	.	.	.	.	.	T	11.32	1.603857	0.28534	.	.	ENSG00000165525	ENST00000298310;ENST00000545773;ENST00000546046;ENST00000555970;ENST00000554626	T;T;T;T	0.38240	1.15;1.15;1.15;1.15	5.24	5.24	0.73138	Fibronectin-binding A, N-terminal (1);	0.297527	0.39475	N	0.001344	T	0.12987	0.0315	N	0.01146	-0.985	0.80722	D	1	B;P;B;B	0.36110	0.0;0.537;0.001;0.001	B;B;B;B	0.40165	0.004;0.321;0.004;0.006	T	0.32508	-0.9904	10	0.02654	T	1	.	9.9396	0.41572	0.0:0.0764:0.0:0.9236	.	220;220;178;220	O60524-3;O60524-5;O60524-4;O60524	.;.;.;NEMF_HUMAN	E	220;178;220;178;178	ENSP00000298310:K220E;ENSP00000438309:K178E;ENSP00000441016:K220E;ENSP00000452540:K178E	ENSP00000298310:K220E	K	-	1	0	NEMF	49370834	0.814000	0.29104	1.000000	0.80357	0.986000	0.74619	1.212000	0.32394	2.131000	0.65755	0.473000	0.43528	AAA		0.338	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410798.1	NM_004713		15	33	0	0	0	0.003163	0	15	33				
NID2	22795	broad.mit.edu	37	14	52495533	52495533	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:52495533C>A	ENST00000216286.5	-	11	2436	c.2437G>T	c.(2437-2439)Ggc>Tgc	p.G813C	NID2_ENST00000541773.1_Missense_Mutation_p.G760C	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	813	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GAGTTGGGGCCACAGCGATGA	0.448																																							uc001wzo.2		NA																	0				pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7						c.(2437-2439)GGC>TGC		nidogen 2 precursor							91.0	85.0	87.0					14																	52495533		2203	4300	6503	SO:0001583	missense	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52495533C>A	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.2437G>T	14.37:g.52495533C>A	ENSP00000216286:p.Gly813Cys					NID2_uc010tqs.1_Missense_Mutation_p.G813C|NID2_uc010tqt.1_Missense_Mutation_p.G813C|NID2_uc001wzp.2_Missense_Mutation_p.G813C	p.G813C	NM_007361	NP_031387	Q14112	NID2_HUMAN			11	2671	-	Breast(41;0.0639)|all_epithelial(31;0.123)		813			EGF-like 3; calcium-binding (Potential).		A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	c.2437G>T	CCDS9706.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.1|22.1	4.248209|4.248209	0.80024|0.80024	.|.	.|.	ENSG00000087303|ENSG00000087303	ENST00000216286;ENST00000316204;ENST00000541773;ENST00000395707|ENST00000556572	D;D|.	0.92099|.	-2.97;-2.97|.	5.94|5.94	5.94|5.94	0.96194|0.96194	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);|.	0.134393|.	0.64402|.	D|.	0.000002|.	T|T	0.75838|0.75838	0.3904|0.3904	M|M	0.80422|0.80422	2.495|2.495	0.42947|0.42947	D|D	0.994368|0.994368	D;D;D;D|.	0.89917|.	0.999;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.981;0.957;0.999;0.999|.	T|T	0.76782|0.76782	-0.2832|-0.2832	10|5	0.87932|.	D|.	0|.	.|.	13.1346|13.1346	0.59402|0.59402	0.0:0.9235:0.0:0.0765|0.0:0.9235:0.0:0.0765	.|.	407;760;815;813|.	E7EPP3;Q14112-2;Q5CZI2;Q14112|.	.;.;.;NID2_HUMAN|.	C|L	813;407;760;815|129	ENSP00000216286:G813C;ENSP00000443730:G760C|.	ENSP00000216286:G813C|.	G|W	-|-	1|2	0|0	NID2|NID2	51565283|51565283	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.968000|0.968000	0.65278|0.65278	3.681000|3.681000	0.54648|0.54648	2.816000|2.816000	0.96949|0.96949	0.563000|0.563000	0.77884|0.77884	GGC|TGG		0.448	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			11	40	1	0	9.70103e-10	0.008291	1.33322e-09	11	40				
PTGDR	5729	broad.mit.edu	37	14	52734663	52734663	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:52734663C>A	ENST00000306051.2	+	1	233	c.131C>A	c.(130-132)tCg>tAg	p.S44*	PTGDR_ENST00000553372.1_Nonsense_Mutation_p.S44*	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	44					adenosine metabolic process (GO:0046085)|cellular response to prostaglandin D stimulus (GO:0071799)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|male sex determination (GO:0030238)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin D receptor activity (GO:0004956)|prostaglandin J receptor activity (GO:0001785)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	CTGGCGCGCTCGGGGCTGGGG	0.687																																							uc001wzq.2		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(130-132)TCG>TAG		prostaglandin D2 receptor	Nedocromil(DB00716)						19.0	21.0	21.0					14																	52734663		2200	4297	6497	SO:0001587	stop_gained	5729					integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding	g.chr14:52734663C>A	U31332	CCDS9707.1, CCDS61454.1	14q22.1	2012-08-08			ENSG00000168229	ENSG00000168229		"""GPCR / Class A : Prostanoid receptors"""	9591	protein-coding gene	gene with protein product		604687				7642548	Standard	NM_000953		Approved	DP, DP1, PTGDR1	uc001wzq.3	Q13258	OTTHUMG00000140299	ENST00000306051.2:c.131C>A	14.37:g.52734663C>A	ENSP00000303424:p.Ser44*						p.S44*	NM_000953	NP_000944	Q13258	PD2R_HUMAN			1	233	+	Breast(41;0.0639)|all_epithelial(31;0.0887)		44			Cytoplasmic (Potential).		G3V5L3|Q13250|Q13251|Q1ZZ52	Nonsense_Mutation	SNP	ENST00000306051.2	37	c.131C>A	CCDS9707.1	.	.	.	.	.	.	.	.	.	.	C	35	5.456923	0.96223	.	.	ENSG00000168229	ENST00000306051;ENST00000553372	.	.	.	4.83	3.85	0.44370	.	0.000000	0.42821	D	0.000660	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.8031	9.7566	0.40506	0.3116:0.6884:0.0:0.0	.	.	.	.	X	44	.	ENSP00000303424:S44X	S	+	2	0	PTGDR	51804413	0.672000	0.27530	0.996000	0.52242	0.981000	0.71138	1.585000	0.36600	2.620000	0.88729	0.563000	0.77884	TCG		0.687	PTGDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276889.1	NM_000953		6	12	1	0	2.7689e-08	0.001984	3.62443e-08	6	12				
TBPL2	387332	broad.mit.edu	37	14	55903622	55903622	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:55903622C>T	ENST00000247219.5	-	2	335	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K		NM_199047.2	NP_950248.1			TATA box binding protein like 2											endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						CCAGATGTTTCTTTGACTTCA	0.428																																							uc001xby.2		NA																	0					0						c.(265-267)GAA>AAA		TATA box binding protein like 2							126.0	122.0	123.0					14																	55903622		2203	4300	6503	SO:0001583	missense	387332				multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding	g.chr14:55903622C>T	AY457923	CCDS9724.1	14q22.2	2004-06-03			ENSG00000182521	ENSG00000182521			19841	protein-coding gene	gene with protein product		608964				14634207	Standard	NM_199047		Approved	TRF3, TBP2	uc001xby.3	Q6SJ96	OTTHUMG00000140313	ENST00000247219.5:c.265G>A	14.37:g.55903622C>T	ENSP00000247219:p.Glu89Lys						p.E89K	NM_199047	NP_950248	Q6SJ96	TBPL2_HUMAN			2	265	-			89						Missense_Mutation	SNP	ENST00000247219.5	37	c.265G>A	CCDS9724.1	.	.	.	.	.	.	.	.	.	.	C	5.341	0.248237	0.10130	.	.	ENSG00000182521	ENST00000247219;ENST00000556755	T	0.49432	0.78	4.89	3.98	0.46160	.	0.653947	0.16726	N	0.202044	T	0.36138	0.0956	L	0.33485	1.01	0.09310	N	1	B	0.21071	0.051	B	0.14023	0.01	T	0.13710	-1.0499	10	0.17832	T	0.49	-6.6276	14.2426	0.65966	0.0:0.8499:0.1501:0.0	.	89	Q6SJ96	TBPL2_HUMAN	K	89;21	ENSP00000247219:E89K	ENSP00000247219:E89K	E	-	1	0	TBPL2	54973375	0.998000	0.40836	0.023000	0.16930	0.063000	0.16089	2.875000	0.48491	1.238000	0.43771	0.563000	0.77884	GAA		0.428	TBPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276916.1	NM_199047		16	56	0	0	0	0.006122	0	16	56				
DACT1	51339	broad.mit.edu	37	14	59112634	59112634	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:59112634G>A	ENST00000335867.4	+	4	1317	c.1293G>A	c.(1291-1293)aaG>aaA	p.K431K	DACT1_ENST00000395153.3_Silent_p.K394K|DACT1_ENST00000556859.1_Silent_p.K150K|DACT1_ENST00000541264.2_Silent_p.K150K			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	431					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CCGAAAGCAAGAGGGTGCCCC	0.592																																							uc001xdw.2		NA																	0				large_intestine(2)|lung(2)|ovary(1)	5						c.(1291-1293)AAG>AAA		dapper 1 isoform 1							45.0	52.0	50.0					14																	59112634		2202	4299	6501	SO:0001819	synonymous_variant	51339				multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr14:59112634G>A	AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"""dapper homolog 1, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"""			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.1293G>A	14.37:g.59112634G>A						DACT1_uc010trv.1_Silent_p.K150K|DACT1_uc001xdx.2_Silent_p.K394K|DACT1_uc010trw.1_Silent_p.K150K	p.K431K	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN			4	1457	+			431					A8MYJ2|Q86TY0	Silent	SNP	ENST00000335867.4	37	c.1293G>A	CCDS9736.1																																																																																				0.592	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		11	34	0	0	0	0.001368	0	11	34				
DHRS7	51635	broad.mit.edu	37	14	60611705	60611705	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:60611705G>C	ENST00000216500.5	-	8	1454	c.999C>G	c.(997-999)atC>atG	p.I333M	DHRS7_ENST00000536410.2_Missense_Mutation_p.I283M|PCNXL4_ENST00000406949.1_Intron|DHRS7_ENST00000557185.1_Missense_Mutation_p.I333M			Q9Y394	DHRS7_HUMAN	dehydrogenase/reductase (SDR family) member 7	333						membrane (GO:0016020)	oxidoreductase activity (GO:0016491)			endometrium(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(108;0.121)		TTGTCTTAAAGATTTTAAAAT	0.358																																							uc001xes.2		NA																	0				ovary(1)	1						c.(997-999)ATC>ATG		dehydrogenase/reductase (SDR family) member 7							77.0	88.0	84.0					14																	60611705		2203	4299	6502	SO:0001583	missense	51635						binding|oxidoreductase activity	g.chr14:60611705G>C	AF151844	CCDS9743.1	14q23.1	2011-09-20			ENSG00000100612	ENSG00000100612		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	21524	protein-coding gene	gene with protein product	"""retinal short-chain dehydrogenase/reductase 4"", ""short chain dehydrogenase/reductase family 34C, member 1"""	612833				10800688, 10810093, 19027726	Standard	NM_016029		Approved	retDSR4, SDR34C1	uc001xes.3	Q9Y394	OTTHUMG00000140331	ENST00000216500.5:c.999C>G	14.37:g.60611705G>C	ENSP00000216500:p.Ile333Met					C14orf135_uc001xeq.2_Intron|DHRS7_uc001xet.2_Missense_Mutation_p.I283M	p.I333M	NM_016029	NP_057113	Q9Y394	DHRS7_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.121)	7	1183	-			333					B2R896|Q9UKU2	Missense_Mutation	SNP	ENST00000216500.5	37	c.999C>G	CCDS9743.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	14.64|14.64|14.64	2.594421|2.594421|2.594421	0.46214|0.46214|0.46214	.|.|.	.|.|.	ENSG00000100612|ENSG00000100612|ENSG00000100612	ENST00000216500;ENST00000557185;ENST00000536410|ENST00000557751|ENST00000360557	D;D;D|.|.	0.84070|.|.	-1.76;-1.76;-1.8|.|.	5.05|5.05|5.05	1.97|1.97|1.97	0.26223|0.26223|0.26223	.|.|.	.|.|1.219690	.|.|0.06146	.|.|N	.|.|0.673271	T|T|T	0.19765|0.19765|0.19765	0.0475|0.0475|0.0475	N|N|N	0.08118|0.08118|0.08118	0|0|0	0.09310|0.09310|0.09310	N|N|N	1|1|1	P|.|.	0.35600|.|.	0.511|.|.	B|.|.	0.28232|.|.	0.087|.|.	T|T|T	0.28681|0.28681|0.28681	-1.0036|-1.0036|-1.0036	9|5|7	0.40728|.|0.72032	T|.|D	0.16|.|0.01	.|.|.	2.947|2.947|2.947	0.05849|0.05849|0.05849	0.089:0.1544:0.439:0.3176|0.089:0.1544:0.439:0.3176|0.089:0.1544:0.439:0.3176	.|.|.	333|.|.	Q9Y394|.|.	DHRS7_HUMAN|.|.	M|V|C	333;333;283|169|332	ENSP00000216500:I333M;ENSP00000451882:I333M;ENSP00000442993:I283M|.|.	ENSP00000216500:I333M|.|ENSP00000353759:S332C	I|L|S	-|-|-	3|1|2	3|0|0	DHRS7|DHRS7|DHRS7	59681458|59681458|59681458	0.000000|0.000000|0.000000	0.05858|0.05858|0.05858	0.001000|0.001000|0.001000	0.08648|0.08648|0.08648	0.009000|0.009000|0.009000	0.06853|0.06853|0.06853	0.107000|0.107000|0.107000	0.15375|0.15375|0.15375	0.782000|0.782000|0.782000	0.33613|0.33613|0.33613	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	ATC|CTT|TCT		0.358	DHRS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276947.2	NM_016029		5	62	0	0	0	0.000602	0	5	62				
KCNH5	27133	broad.mit.edu	37	14	63174517	63174517	+	Silent	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:63174517A>T	ENST00000322893.7	-	11	2944	c.2676T>A	c.(2674-2676)gcT>gcA	p.A892A	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	892					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GCTTGGCATCAGCCTGGATGG	0.517																																							uc001xfx.2		NA																	0				ovary(4)|skin(4)|central_nervous_system(1)	9						c.(2674-2676)GCT>GCA		potassium voltage-gated channel, subfamily H,							127.0	114.0	119.0					14																	63174517		2203	4300	6503	SO:0001819	synonymous_variant	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63174517A>T	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.2676T>A	14.37:g.63174517A>T						KCNH5_uc001xfy.2_3'UTR	p.A892A	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	11	2727	-			892			Cytoplasmic (Potential).		C9JP98	Silent	SNP	ENST00000322893.7	37	c.2676T>A	CCDS9756.1																																																																																				0.517	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		24	69	0	0	0	0.00632	0	24	69				
SYNE2	23224	broad.mit.edu	37	14	64520073	64520073	+	Missense_Mutation	SNP	G	G	C	rs371734893		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:64520073G>C	ENST00000344113.4	+	48	9654	c.9442G>C	c.(9442-9444)Gaa>Caa	p.E3148Q	SYNE2_ENST00000554584.1_Missense_Mutation_p.E3181Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.E3148Q|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3148					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.E3148K(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTCACCAAAAGAATTGGATGA	0.299																																							uc001xgm.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(9442-9444)GAA>CAA		spectrin repeat containing, nuclear envelope 2							48.0	47.0	47.0					14																	64520073		1810	4070	5880	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64520073G>C	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.9442G>C	14.37:g.64520073G>C	ENSP00000341781:p.Glu3148Gln					SYNE2_uc001xgl.2_Missense_Mutation_p.E3148Q|SYNE2_uc010apw.1_5'Flank	p.E3148Q	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	48	9672	+			3148			Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.9442G>C	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	10.31	1.316245	0.23908	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.57752	0.74;0.74;0.38	5.39	3.38	0.38709	.	0.579854	0.15816	N	0.243258	T	0.31389	0.0795	L	0.27053	0.805	0.19300	N	0.99998	B;P	0.36535	0.421;0.557	B;B	0.36186	0.109;0.219	T	0.08911	-1.0699	10	0.13853	T	0.58	.	3.1664	0.06538	0.2541:0.0:0.4784:0.2675	.	3148;3148	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	Q	3148;3148;3181;3181	ENSP00000350719:E3148Q;ENSP00000341781:E3148Q;ENSP00000452570:E3181Q	ENSP00000261678:E3181Q	E	+	1	0	SYNE2	63589826	0.021000	0.18746	0.933000	0.37362	0.693000	0.40251	1.482000	0.35486	1.279000	0.44446	0.462000	0.41574	GAA		0.299	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		5	18	0	0	0	0.000602	0	5	18				
SPTB	6710	broad.mit.edu	37	14	65252654	65252654	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:65252654G>A	ENST00000389721.5	-	16	3609	c.3577C>T	c.(3577-3579)Cac>Tac	p.H1193Y	SPTB_ENST00000389722.3_Missense_Mutation_p.H1193Y|SPTB_ENST00000389720.3_Missense_Mutation_p.H1193Y|SPTB_ENST00000556626.1_Missense_Mutation_p.H1193Y|SPTB_ENST00000542895.1_Missense_Mutation_p.H1193Y	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1193					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GGCTCCAAGTGAGCCAGAGTG	0.547																																							uc001xht.2		NA																	0				ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11						c.(3577-3579)CAC>TAC		spectrin beta isoform b							94.0	98.0	97.0					14																	65252654		2203	4300	6503	SO:0001583	missense	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65252654G>A		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.3577C>T	14.37:g.65252654G>A	ENSP00000374371:p.His1193Tyr					SPTB_uc001xhr.2_Missense_Mutation_p.H1193Y|SPTB_uc001xhs.2_Missense_Mutation_p.H1193Y|SPTB_uc001xhu.2_Missense_Mutation_p.H1193Y	p.H1193Y	NM_000347	NP_000338	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	16	3631	-		all_lung(585;4.15e-09)	1193			Spectrin 9.		Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	c.3577C>T	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107994	0.77096	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.58018	0.2093	M	0.79258	2.445	0.80722	D	1	P;B	0.36412	0.552;0.006	B;B	0.42245	0.381;0.006	T	0.64702	-0.6345	10	0.66056	D	0.02	.	17.2916	0.87158	0.0:0.0:1.0:0.0	.	1193;1197	P11277;Q59FP5	SPTB1_HUMAN;.	Y	1197;1193;1193;1193;1193;1193	ENSP00000374372:H1193Y;ENSP00000451752:H1193Y;ENSP00000374371:H1193Y;ENSP00000443882:H1193Y;ENSP00000374370:H1193Y	ENSP00000374370:H1193Y	H	-	1	0	SPTB	64322407	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	9.793000	0.99091	2.451000	0.82905	0.542000	0.68232	CAC		0.547	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			31	65	0	0	0	0.002096	0	31	65				
ZFYVE26	23503	broad.mit.edu	37	14	68234553	68234553	+	Silent	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:68234553T>A	ENST00000347230.4	-	31	5796	c.5658A>T	c.(5656-5658)ctA>ctT	p.L1886L	ZFYVE26_ENST00000555452.1_Silent_p.L1886L	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1886					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TGGAGCTGTCTAGAGCTGAGA	0.483																																							uc001xka.2		NA																	0				ovary(9)|breast(2)	11						c.(5656-5658)CTA>CTT		zinc finger, FYVE domain containing 26							109.0	97.0	101.0					14																	68234553		2203	4300	6503	SO:0001819	synonymous_variant	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68234553T>A	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.5658A>T	14.37:g.68234553T>A						ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Silent_p.L1886L	p.L1886L	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	31	5797	-			1886					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Silent	SNP	ENST00000347230.4	37	c.5658A>T	CCDS9788.1																																																																																				0.483	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		24	65	0	0	0	0.004656	0	24	65				
ADAM21P1	145241	broad.mit.edu	37	14	70713356	70713356	+	RNA	SNP	T	T	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:70713356T>C	ENST00000530196.1	-	0	1162					NR_003951.1				ADAM metallopeptidase domain 21 pseudogene 1																		ACCTAACTCATGGGCCACAGT	0.433																																							uc010ttg.1		NA																	0					0						c.(511-513)CAT>CGT		SubName: Full=ADAM21-like protein;																																						145241							g.chr14:70713356T>C			14q24.2	2014-03-25	2010-01-12	2010-01-12	ENSG00000235812	ENSG00000235812			19822	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 21 pseudogene"", ""ADAM metallopeptidase domain 21 pseudogene"""	ADAM21P			Standard	NR_003951		Approved		uc010ttg.2		OTTHUMG00000166565		14.37:g.70713356T>C							p.H171R	NR_003951						1	1163	-									Missense_Mutation	SNP	ENST00000530196.1	37	c.512A>G																																																																																					0.433	ADAM21P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390451.1	NG_002467		24	223	0	0	0	0.009535	0	24	223				
ADAM21	8747	broad.mit.edu	37	14	70925238	70925238	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:70925238A>G	ENST00000603540.1	+	2	1280	c.1022A>G	c.(1021-1023)cAt>cGt	p.H341R	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.H341R	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	341	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		ACTGTGGCCCATGAGTTAGGT	0.428																																							uc001xmd.2		NA																	0				pancreas(1)|skin(1)	2						c.(1021-1023)CAT>CGT		ADAM metallopeptidase domain 21 preproprotein							73.0	69.0	71.0					14																	70925238		2162	4270	6432	SO:0001583	missense	8747				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70925238A>G	AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.1022A>G	14.37:g.70925238A>G	ENSP00000474385:p.His341Arg						p.H341R	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN		all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	1	1022	+			341			Peptidase M12B.|Extracellular (Potential).	Zinc; catalytic (Potential).	O43507|Q2VPC6|Q32MR0	Missense_Mutation	SNP	ENST00000603540.1	37	c.1022A>G	CCDS9804.1	.	.	.	.	.	.	.	.	.	.	A	15.01	2.704904	0.48412	.	.	ENSG00000139985	ENST00000267499	T	0.39229	1.09	4.36	3.21	0.36854	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.45126	D	0.000384	T	0.67031	0.2850	M	0.90814	3.15	0.41665	D	0.989204	D	0.71674	0.998	D	0.80764	0.994	T	0.71728	-0.4505	10	0.87932	D	0	.	9.982	0.41819	0.9188:0.0:0.0812:0.0	.	341	Q9UKJ8	ADA21_HUMAN	R	341	ENSP00000267499:H341R	ENSP00000267499:H341R	H	+	2	0	ADAM21	69994991	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.181000	0.65054	0.823000	0.34589	0.455000	0.32223	CAT		0.428	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3			18	43	0	0	0	0.007413	0	18	43				
PAPLN	89932	broad.mit.edu	37	14	73718736	73718736	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:73718736A>G	ENST00000554301.1	+	9	1017	c.854A>G	c.(853-855)cAg>cGg	p.Q285R	PAPLN_ENST00000340738.5_Missense_Mutation_p.Q258R|PAPLN_ENST00000381166.3_Missense_Mutation_p.Q285R|PAPLN_ENST00000427855.1_Missense_Mutation_p.Q285R|PAPLN_ENST00000555445.1_Missense_Mutation_p.Q285R			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	285						basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CTCATCAGCCAGGAGCCCAAC	0.682																																							uc010ttx.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(853-855)CAG>CGG		papilin							46.0	34.0	38.0					14																	73718736		2203	4300	6503	SO:0001583	missense	89932					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding	g.chr14:73718736A>G	BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"""Immunoglobulin superfamily / I-set domain containing"""	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.854A>G	14.37:g.73718736A>G	ENSP00000451803:p.Gln285Arg					PAPLN_uc001xnw.3_Missense_Mutation_p.Q258R|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Missense_Mutation_p.Q285R	p.Q285R	NM_173462	NP_775733	O95428	PPN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)	9	1017	+			285					B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Missense_Mutation	SNP	ENST00000554301.1	37	c.854A>G		.	.	.	.	.	.	.	.	.	.	A	16.99	3.274970	0.59649	.	.	ENSG00000100767	ENST00000340738;ENST00000427855;ENST00000381166;ENST00000554301;ENST00000555445	T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63	4.56	3.32	0.38043	ADAM-TS Spacer 1 (1);	.	.	.	.	T	0.45597	0.1350	M	0.69248	2.105	0.37632	D	0.921724	P;P;P	0.37864	0.472;0.528;0.61	B;B;B	0.39217	0.194;0.294;0.258	T	0.52601	-0.8554	9	0.37606	T	0.19	.	9.9155	0.41432	0.8289:0.1711:0.0:0.0	.	285;285;258	O95428-5;O95428;O95428-6	.;PPN_HUMAN;.	R	258;285;285;285;285	ENSP00000345395:Q258R;ENSP00000403403:Q285R;ENSP00000370558:Q285R;ENSP00000451803:Q285R;ENSP00000451729:Q285R	ENSP00000216658:Q285R	Q	+	2	0	PAPLN	72788489	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.130000	0.94437	1.681000	0.50988	0.459000	0.35465	CAG		0.682	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	NM_173462		11	28	0	0	0	0.007413	0	11	28				
ACOT4	122970	broad.mit.edu	37	14	74061798	74061798	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:74061798G>C	ENST00000326303.4	+	3	960	c.706G>C	c.(706-708)Gat>Cat	p.D236H		NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN	acyl-CoA thioesterase 4	236					acyl-CoA metabolic process (GO:0006637)|dicarboxylic acid catabolic process (GO:0043649)|dicarboxylic acid metabolic process (GO:0043648)|long-chain fatty acid metabolic process (GO:0001676)|saturated monocarboxylic acid metabolic process (GO:0032788)|short-chain fatty acid metabolic process (GO:0046459)|succinyl-CoA metabolic process (GO:0006104)|unsaturated monocarboxylic acid metabolic process (GO:0032789)|very long-chain fatty acid metabolic process (GO:0000038)	peroxisome (GO:0005777)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|succinyl-CoA hydrolase activity (GO:0004778)			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		TCTAGGAGCTGATATTTGTCT	0.453																																							uc001xoo.2		NA																	0					0						c.(706-708)GAT>CAT		acyl-CoA thioesterase 4							95.0	101.0	99.0					14																	74061798		2203	4300	6503	SO:0001583	missense	122970				acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process	peroxisome	carboxylesterase activity|palmitoyl-CoA hydrolase activity	g.chr14:74061798G>C	BC031799	CCDS9817.1	14q24.1	2011-02-16			ENSG00000177465	ENSG00000177465		"""Acyl CoA thioesterases"""	19748	protein-coding gene	gene with protein product		614314				16103133, 16940157	Standard	NM_152331		Approved	FLJ31235, PTE-Ib, PTE2B	uc001xoo.3	Q8N9L9	OTTHUMG00000169485	ENST00000326303.4:c.706G>C	14.37:g.74061798G>C	ENSP00000323071:p.Asp236His						p.D236H	NM_152331	NP_689544	Q8N9L9	ACOT4_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00331)	3	960	+			236					Q17RF4|Q5BKT6|Q86TX0|Q86TX1|Q96N88	Missense_Mutation	SNP	ENST00000326303.4	37	c.706G>C	CCDS9817.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.600828	0.87055	.	.	ENSG00000177465	ENST00000326303	T	0.32023	1.47	5.74	5.74	0.90152	BAAT/Acyl-CoA thioester hydrolase C-terminal (1);	0.151604	0.56097	D	0.000022	T	0.58264	0.2110	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.59343	-0.7472	10	0.87932	D	0	-13.5691	19.5177	0.95171	0.0:0.0:1.0:0.0	.	236	Q8N9L9	ACOT4_HUMAN	H	236	ENSP00000323071:D236H	ENSP00000323071:D236H	D	+	1	0	ACOT4	73131551	0.991000	0.36638	1.000000	0.80357	0.929000	0.56500	3.307000	0.51888	2.720000	0.93068	0.561000	0.74099	GAT		0.453	ACOT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404298.2	NM_152331		22	49	0	0	0	0.001882	0	22	49				
ABCD4	5826	broad.mit.edu	37	14	74763132	74763132	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:74763132T>A	ENST00000356924.4	-	5	589	c.446A>T	c.(445-447)gAc>gTc	p.D149V	ABCD4_ENST00000557554.1_Intron|AC005519.4_ENST00000554532.2_RNA|ABCD4_ENST00000298816.7_Missense_Mutation_p.D62V|ABCD4_ENST00000557588.1_Missense_Mutation_p.D149V	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	149	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cobalamin metabolic process (GO:0009235)|transmembrane transport (GO:0055085)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		TCGCTCCACGTCCTGGCTGAT	0.557																																							uc001xpr.2		NA																	0				upper_aerodigestive_tract(2)|large_intestine(1)|ovary(1)	4						c.(445-447)GAC>GTC		ATP-binding cassette, sub-family D, member 4							88.0	71.0	76.0					14																	74763132		2203	4300	6503	SO:0001583	missense	5826					ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr14:74763132T>A	AF009746	CCDS9828.1	14q24	2012-03-14			ENSG00000119688	ENSG00000119688		"""ATP binding cassette transporters / subfamily D"""	68	protein-coding gene	gene with protein product		603214		PXMP1L		9266848, 9302272	Standard	NR_003256		Approved	PMP69, P70R, EST352188	uc001xpr.2	O14678	OTTHUMG00000171207	ENST00000356924.4:c.446A>T	14.37:g.74763132T>A	ENSP00000349396:p.Asp149Val					ABCD4_uc001xps.2_5'UTR|ABCD4_uc001xpt.2_5'UTR|ABCD4_uc010tur.1_Missense_Mutation_p.D62V|ABCD4_uc001xpu.2_5'UTR|ABCD4_uc001xpv.2_RNA	p.D149V	NM_005050	NP_005041	O14678	ABCD4_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00153)	5	598	-			149			ABC transmembrane type-1.		A8K5L7|Q6IAQ0|Q96E75	Missense_Mutation	SNP	ENST00000356924.4	37	c.446A>T	CCDS9828.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.7|25.7	4.666005|4.666005	0.88251|0.88251	.|.	.|.	ENSG00000119688|ENSG00000119688	ENST00000356924;ENST00000298816;ENST00000557588|ENST00000556971	D;D;D|.	0.99959|.	-9.07;-9.07;-9.07|.	4.82|4.82	4.82|4.82	0.62117|0.62117	ABC transporter, N-terminal (1);ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.80757|0.80757	0.4684|0.4684	M|M	0.90082|0.90082	3.085|3.085	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.85005|0.85005	0.0902|0.0902	10|5	0.87932|.	D|.	0|.	.|.	14.5581|14.5581	0.68115|0.68115	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	62;149|.	F8W7M4;O14678|.	.;ABCD4_HUMAN|.	V|S	149;62;149|109	ENSP00000349396:D149V;ENSP00000298816:D62V;ENSP00000451993:D149V|.	ENSP00000298816:D62V|.	D|T	-|-	2|1	0|0	ABCD4|ABCD4	73832885|73832885	1.000000|1.000000	0.71417|0.71417	0.949000|0.949000	0.38748|0.38748	0.963000|0.963000	0.63663|0.63663	7.868000|7.868000	0.87116|0.87116	2.012000|2.012000	0.59069|0.59069	0.528000|0.528000	0.53228|0.53228	GAC|ACG		0.557	ABCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314382.1	NM_005050		20	51	0	0	0	0.001882	0	20	51				
LTBP2	4053	broad.mit.edu	37	14	74995241	74995241	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:74995241C>A	ENST00000261978.4	-	12	2699	c.2313G>T	c.(2311-2313)caG>caT	p.Q771H	LTBP2_ENST00000556690.1_Missense_Mutation_p.Q771H	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	771					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CCCGGAGGGGCTGCCTCTCTG	0.652																																							uc001xqa.2		NA																	0				liver(1)|skin(1)	2						c.(2311-2313)CAG>CAT		latent transforming growth factor beta binding							38.0	42.0	40.0					14																	74995241		2203	4300	6503	SO:0001583	missense	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:74995241C>A		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.2313G>T	14.37:g.74995241C>A	ENSP00000261978:p.Gln771His						p.Q771H	NM_000428	NP_000419	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	12	2700	-			771					Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	c.2313G>T	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.263375	0.39995	.	.	ENSG00000119681	ENST00000261978;ENST00000556690;ENST00000556359	T;T	0.79141	-1.23;-1.24	5.27	0.0721	0.14385	.	0.000000	0.39687	N	0.001290	T	0.75975	0.3923	L	0.32530	0.975	0.29958	N	0.819615	D	0.71674	0.998	D	0.81914	0.995	T	0.68288	-0.5448	10	0.46703	T	0.11	.	4.6915	0.12783	0.0:0.4492:0.1509:0.3999	.	771	Q14767	LTBP2_HUMAN	H	771;771;31	ENSP00000261978:Q771H;ENSP00000451477:Q771H	ENSP00000261978:Q771H	Q	-	3	2	LTBP2	74064994	0.956000	0.32656	0.999000	0.59377	0.050000	0.14768	0.012000	0.13287	0.350000	0.24002	0.655000	0.94253	CAG		0.652	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		9	58	1	0	4.68919e-08	0.008291	6.0898e-08	9	58				
YLPM1	56252	broad.mit.edu	37	14	75283738	75283738	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:75283738C>T	ENST00000552421.1	+	13	3796	c.3672C>T	c.(3670-3672)atC>atT	p.I1224I	YLPM1_ENST00000325680.7_Silent_p.I1930I|YLPM1_ENST00000238571.3_Silent_p.I1695I			P49750	YLPM1_HUMAN	YLP motif containing 1	1735					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CCTTCATCATCCTGGATGCCA	0.403																																							uc001xqj.3		NA																	0				ovary(2)|pancreas(1)	3						c.(5788-5790)ATC>ATT		YLP motif containing 1							74.0	68.0	70.0					14																	75283738		1875	4108	5983	SO:0001819	synonymous_variant	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75283738C>T	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.3672C>T	14.37:g.75283738C>T						YLPM1_uc001xql.3_RNA|YLPM1_uc001xqm.1_Silent_p.I413I	p.I1930I	NM_019589	NP_062535	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	14	5914	+			1735					P49752|Q96I64|Q9P1V7	Silent	SNP	ENST00000552421.1	37	c.5790C>T																																																																																					0.403	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		7	10	0	0	0	0.00308	0	7	10				
FOS	2353	broad.mit.edu	37	14	75748078	75748078	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:75748078A>T	ENST00000303562.4	+	4	1303	c.1094A>T	c.(1093-1095)aAt>aTt	p.N365I	FOS_ENST00000555347.1_Missense_Mutation_p.N217I|FOS_ENST00000535987.1_Missense_Mutation_p.N329I|FOS_ENST00000555686.1_Missense_Mutation_p.N251I	NM_005252.3	NP_005243.1	P01100	FOS_HUMAN	FBJ murine osteosarcoma viral oncogene homolog	365					aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hormone stimulus (GO:0032870)|cellular response to reactive oxygen species (GO:0034614)|conditioned taste aversion (GO:0001661)|DNA methylation (GO:0006306)|Fc-epsilon receptor signaling pathway (GO:0038095)|female pregnancy (GO:0007565)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to gravity (GO:0009629)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|skeletal muscle cell differentiation (GO:0035914)|sleep (GO:0030431)|SMAD protein signal transduction (GO:0060395)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	double-stranded DNA binding (GO:0003690)|R-SMAD binding (GO:0070412)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)		BRCA - Breast invasive adenocarcinoma(234;0.0117)	Nadroparin(DB08813)|Pseudoephedrine(DB00852)	AGCAGCAGCAATGAGCCTTCC	0.657																																							uc001xrn.2		NA																	0				lung(2)|ovary(1)	3						c.(1093-1095)AAT>ATT		v-fos FBJ murine osteosarcoma viral oncogene							39.0	41.0	40.0					14																	75748078		2203	4300	6503	SO:0001583	missense	2353				cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway		protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr14:75748078A>T	K00650	CCDS9841.1	14q24.3	2013-01-10	2009-07-23			ENSG00000170345		"""basic leucine zipper proteins"""	3796	protein-coding gene	gene with protein product		164810	"""v-fos FBJ murine osteosarcoma viral oncogene homolog"""			16123044, 16055710, 15926923	Standard	NM_005252		Approved	c-fos, AP-1	uc001xrn.3	P01100		ENST00000303562.4:c.1094A>T	14.37:g.75748078A>T	ENSP00000306245:p.Asn365Ile					FOS_uc010tva.1_Missense_Mutation_p.N329I|FOS_uc010asi.2_Missense_Mutation_p.N251I|FOS_uc001xro.2_Missense_Mutation_p.N217I	p.N365I	NM_005252	NP_005243	P01100	FOS_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0117)	4	1299	+		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)	365					A8K4E2|B4DQ65|P18849	Missense_Mutation	SNP	ENST00000303562.4	37	c.1094A>T	CCDS9841.1	.	.	.	.	.	.	.	.	.	.	A	15.57	2.871467	0.51695	.	.	ENSG00000170345	ENST00000303562;ENST00000535987;ENST00000555686;ENST00000555347	T;T;T	0.65178	0.45;0.85;-0.14	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.77961	0.4209	M	0.71036	2.16	0.53005	D	0.99996	D;D	0.76494	0.997;0.999	D;D	0.80764	0.944;0.994	T	0.80634	-0.1295	10	0.72032	D	0.01	-24.2004	15.1478	0.72671	1.0:0.0:0.0:0.0	.	329;365	B4DQ65;P01100	.;FOS_HUMAN	I	365;329;251;217	ENSP00000306245:N365I;ENSP00000442268:N329I;ENSP00000452590:N251I	ENSP00000306245:N365I	N	+	2	0	FOS	74817831	0.997000	0.39634	0.998000	0.56505	0.974000	0.67602	3.579000	0.53900	2.062000	0.61559	0.533000	0.62120	AAT		0.657	FOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415044.1	NM_005252		14	39	0	0	0	0.00245	0	14	39				
TMEM63C	57156	broad.mit.edu	37	14	77710724	77710724	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:77710724G>T	ENST00000298351.4	+	16	1518	c.1374G>T	c.(1372-1374)gtG>gtT	p.V458V		NM_020431.2	NP_065164.2	Q9P1W3	CSC1_HUMAN	transmembrane protein 63C	458					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)	integral component of membrane (GO:0016021)	calcium activated cation channel activity (GO:0005227)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		TCCCCTCTGTGATGCTCTGGG	0.587																																							uc001xtf.2		NA																	0					0						c.(1372-1374)GTG>GTT		transmembrane protein 63C							216.0	223.0	221.0					14																	77710724		2000	4163	6163	SO:0001819	synonymous_variant	57156					integral to membrane		g.chr14:77710724G>T		CCDS45141.1	14q24.3	2014-05-30	2005-07-25	2005-07-25	ENSG00000165548	ENSG00000165548			23787	protein-coding gene	gene with protein product	"""calcium permeable stress-gated cation channel 1 homolog (Arabidopsis)"""		"""chromosome 14 open reading frame 171"""	C14orf171		24503647	Standard	NM_020431		Approved	DKFZp434P0111, CSC1, hsCSC1	uc001xtf.2	Q9P1W3	OTTHUMG00000171557	ENST00000298351.4:c.1374G>T	14.37:g.77710724G>T						TMEM63C_uc010asq.1_Silent_p.V458V	p.V458V	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)	16	1586	+			458			Helical; (Potential).		B2RN22|B3KWJ5|Q86TS3|Q86TS4|Q9NSQ4|Q9P1W1	Silent	SNP	ENST00000298351.4	37	c.1374G>T	CCDS45141.1																																																																																				0.587	TMEM63C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414193.1			61	123	1	0	1.15098e-32	0.00361	2.06454e-32	61	123				
TSHR	7253	broad.mit.edu	37	14	81609993	81609993	+	Silent	SNP	C	C	A	rs139892516		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:81609993C>A	ENST00000541158.2	+	11	1913	c.1591C>A	c.(1591-1593)Cgg>Agg	p.R531R	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Silent_p.R531R			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	531					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	GCGCCTGGACCGGAAGATCCG	0.562			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																																uc001xvd.1		NA	yes	Dom	yes		14	14q31	7253	Mis	thyroid stimulating hormone receptor	yes	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 	E		thyroid  adenoma	toxic thyroid adenoma		0				thyroid(289)|ovary(5)|lung(3)|kidney(1)|skin(1)	299						c.(1591-1593)CGG>AGG		thyroid stimulating hormone receptor isoform 1	Thyrotropin Alfa(DB00024)						473.0	319.0	371.0					14																	81609993		2203	4300	6503	SO:0001819	synonymous_variant	7253				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	g.chr14:81609993C>A	AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"""GPCR / Class A : Gonadotropin and TSH receptors"""	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.1591C>A	14.37:g.81609993C>A							p.R531R	NM_000369	NP_000360	P16473	TSHR_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0402)	10	1747	+			531			Cytoplasmic (Potential).		A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Silent	SNP	ENST00000541158.2	37	c.1591C>A	CCDS9872.1																																																																																				0.562	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369		7	20	1	0	1.26484e-09	0.00308	1.72553e-09	7	20				
STON2	85439	broad.mit.edu	37	14	81743600	81743600	+	Silent	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:81743600G>C	ENST00000267540.2	-	4	2255	c.2055C>G	c.(2053-2055)acC>acG	p.T685T	STON2_ENST00000555447.1_Silent_p.T685T|STON2_ENST00000556280.1_5'Flank	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	685	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		TGAAAGGCAAGGTCTTCTCAG	0.537																																							uc010tvu.1		NA																	0				skin(3)|pancreas(2)	5						c.(2053-2055)ACC>ACG		stonin 2							124.0	117.0	119.0					14																	81743600		2203	4300	6503	SO:0001819	synonymous_variant	85439				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding	g.chr14:81743600G>C	AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"""stoned B homolog 2 (Drosophila)"""	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.2055C>G	14.37:g.81743600G>C						STON2_uc001xvk.1_Silent_p.T685T|STON2_uc010tvt.1_Silent_p.T482T	p.T685T	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0348)	4	2256	-			685			MHD.		G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Silent	SNP	ENST00000267540.2	37	c.2055C>G	CCDS9875.1																																																																																				0.537	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413317.1	NM_033104		32	98	0	0	0	0.004289	0	32	98				
STON2	85439	broad.mit.edu	37	14	81864700	81864700	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:81864700G>T	ENST00000267540.2	-	1	227	c.27C>A	c.(25-27)gcC>gcA	p.A9A	STON2_ENST00000555447.1_Silent_p.A9A	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	9					hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		ACTGGTGGGTGGCAATCACAT	0.522																																							uc010tvu.1		NA																	0				skin(3)|pancreas(2)	5						c.(25-27)GCC>GCA		stonin 2							133.0	110.0	118.0					14																	81864700		2203	4300	6503	SO:0001819	synonymous_variant	85439				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding	g.chr14:81864700G>T	AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"""stoned B homolog 2 (Drosophila)"""	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.27C>A	14.37:g.81864700G>T						STON2_uc001xvk.1_Silent_p.A9A|STON2_uc010atc.1_Silent_p.A9A	p.A9A	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0348)	1	228	-			9					G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Silent	SNP	ENST00000267540.2	37	c.27C>A	CCDS9875.1																																																																																				0.522	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413317.1	NM_033104		11	26	1	0	5.16669e-11	0.000978	7.3031e-11	11	26				
CALM1	801	broad.mit.edu	37	14	90870246	90870246	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:90870246G>T	ENST00000356978.4	+	4	467	c.219G>T	c.(217-219)atG>atT	p.M73I	RP11-471B22.2_ENST00000555853.1_RNA|CALM1_ENST00000544280.2_Missense_Mutation_p.M37I|CALM1_ENST00000447653.3_Missense_Mutation_p.M74I|CALM1_ENST00000553542.1_Missense_Mutation_p.M37I	NM_006888.4	NP_008819.1	P62158	CALM_HUMAN	calmodulin 1 (phosphorylase kinase, delta)	73	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.		M -> T (in dbSNP:rs41389749).		activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|detection of calcium ion (GO:0005513)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide metabolic process (GO:0046209)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cyclic nucleotide metabolic process (GO:0030801)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cytokinesis (GO:0032465)|regulation of heart rate (GO:0002027)|regulation of high voltage-gated calcium channel activity (GO:1901841)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcomere (GO:0030017)|spindle microtubule (GO:0005876)|spindle pole (GO:0000922)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|N-terminal myristoylation domain binding (GO:0031997)|nitric-oxide synthase regulator activity (GO:0030235)|phospholipase binding (GO:0043274)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|protein phosphatase activator activity (GO:0072542)|protein serine/threonine kinase activator activity (GO:0043539)|thioesterase binding (GO:0031996)|titin binding (GO:0031432)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	10		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.208)	Aprindine(DB01429)|Bepridil(DB01244)|Chlorpromazine(DB00477)|Cinchocaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Melatonin(DB01065)|Nicardipine(DB00622)|Nifedipine(DB01115)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)|Trifluoperazine(DB00831)	TGACTATGATGGCTAGAAAAA	0.393																																							uc001xyl.1		NA																	0				central_nervous_system(1)	1						c.(217-219)ATG>ATT		calmodulin 1 isoform 1	Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)						123.0	110.0	114.0					14																	90870246		2203	4300	6503	SO:0001583	missense	801				activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission	centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole	calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding	g.chr14:90870246G>T		CCDS9892.1	14q32.11	2013-02-25			ENSG00000198668	ENSG00000198668	2.7.11.19	"""EF-hand domain containing"", ""Endogenous ligands"""	1442	protein-coding gene	gene with protein product	"""prepro-calmodulin 1"""	114180		CALML2		6385987	Standard	NM_006888		Approved	CAMI, PHKD, DD132	uc001xyl.2	P62158	OTTHUMG00000171044	ENST00000356978.4:c.219G>T	14.37:g.90870246G>T	ENSP00000349467:p.Met73Ile					CALM1_uc010atq.1_Missense_Mutation_p.M74I|CALM1_uc010atr.1_Intron|CALM1_uc001xym.1_Missense_Mutation_p.M37I	p.M73I	NM_006888	NP_008819	P62158	CALM_HUMAN		COAD - Colon adenocarcinoma(157;0.208)	4	421	+		all_cancers(154;0.13)	73			EF-hand 2.		P02593|P70667|P99014|Q13942|Q53S29|Q61379|Q61380|Q96HK3	Missense_Mutation	SNP	ENST00000356978.4	37	c.219G>T	CCDS9892.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925811	0.73213	.	.	ENSG00000198668	ENST00000557020;ENST00000356978;ENST00000447653;ENST00000553542;ENST00000544280	T;T;T;T;T	0.80909	-1.43;-0.5;-0.5;-1.43;-1.43	5.22	5.22	0.72569	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.86904	0.6045	.	.	.	0.80722	D	1	P;P	0.45672	0.563;0.864	P;P	0.52856	0.485;0.711	D	0.88254	0.2918	9	0.87932	D	0	.	19.1394	0.93441	0.0:0.0:1.0:0.0	.	74;73	E7ETZ0;P62158	.;CALM_HUMAN	I	37;73;74;37;37	ENSP00000451062:M37I;ENSP00000349467:M73I;ENSP00000403491:M74I;ENSP00000450829:M37I;ENSP00000442853:M37I	ENSP00000349467:M73I	M	+	3	0	CALM1	89939999	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.736000	0.98828	2.583000	0.87209	0.555000	0.69702	ATG		0.393	CALM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411346.1			6	25	1	0	0.00198382	0.001984	0.00213454	6	25				
RPS6KA5	9252	broad.mit.edu	37	14	91526737	91526737	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:91526737G>T	ENST00000261991.3	-	1	215	c.42C>A	c.(40-42)acC>acA	p.T14T	RPS6KA5_ENST00000418736.2_Silent_p.T14T|RPS6KA5_ENST00000536315.2_5'Flank	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	14					axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|histone H2A-S1 phosphorylation (GO:0043990)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cytokine production (GO:0001818)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		CGTCCGCGCTGGTCCCCGCGG	0.721																																							uc001xys.2		NA																	0				ovary(1)	1						c.(40-42)ACC>ACA		ribosomal protein S6 kinase, polypeptide 5							10.0	11.0	11.0					14																	91526737		2142	4149	6291	SO:0001819	synonymous_variant	9252				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr14:91526737G>T	AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784			10434	protein-coding gene	gene with protein product		603607	"""ribosomal protein S6 kinase, 90kD, polypeptide 5"""			9687510, 10702687	Standard	NM_004755		Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.42C>A	14.37:g.91526737G>T						RPS6KA5_uc010twi.1_5'Flank|RPS6KA5_uc001xyt.2_Silent_p.T14T|RPS6KA5_uc010att.1_RNA	p.T14T	NM_004755	NP_004746	O75582	KS6A5_HUMAN		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)	1	257	-		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)	14					O95316|Q96AF7	Silent	SNP	ENST00000261991.3	37	c.42C>A	CCDS9893.1																																																																																				0.721	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411442.2	NM_004755		3	9	1	0	6.4e-05	0.004672	7.28859e-05	3	9				
UNC79	57578	broad.mit.edu	37	14	93962774	93962774	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:93962774C>T	ENST00000393151.2	+	6	730	c.730C>T	c.(730-732)Ctg>Ttg	p.L244L	UNC79_ENST00000553484.1_Silent_p.L244L|UNC79_ENST00000256339.4_Silent_p.L67L|UNC79_ENST00000555664.1_Silent_p.L244L			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	244					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TTGTCAATTACTGGAATGCCT	0.274																																							uc001ybv.1		NA																	0				ovary(10)|skin(4)|large_intestine(3)	17						c.(199-201)CTG>TTG		hypothetical protein LOC57578							79.0	81.0	81.0					14																	93962774		2202	4287	6489	SO:0001819	synonymous_variant	57578					integral to membrane		g.chr14:93962774C>T	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.730C>T	14.37:g.93962774C>T						KIAA1409_uc001ybs.1_Silent_p.L67L|KIAA1409_uc001ybu.1_Intron	p.L67L	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	3	282	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	244					B5MDL6|Q6ZUT7	Silent	SNP	ENST00000393151.2	37	c.199C>T																																																																																					0.274	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		6	59	0	0	0	0.006214	0	6	59				
HSP90AA1	3320	broad.mit.edu	37	14	102548771	102548771	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:102548771G>T	ENST00000216281.8	-	10	1971	c.1766C>A	c.(1765-1767)tCa>tAa	p.S589*	HSP90AA1_ENST00000334701.7_Nonsense_Mutation_p.S711*	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	589					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	CAATCGGTTTGACACAACCAC	0.388																																							uc001yku.3		NA																	0				ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1)	7						c.(1765-1767)TCA>TAA		heat shock 90kDa protein 1, alpha isoform 2	Rifabutin(DB00615)						51.0	46.0	48.0					14																	102548771		2203	4300	6503	SO:0001587	stop_gained	3320				axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding	g.chr14:102548771G>T	M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"""Heat shock proteins / HSPC"""	5253	protein-coding gene	gene with protein product		140571	"""heat shock 90kD protein 1, alpha"", ""heat shock 90kDa protein 1, alpha"""	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.1766C>A	14.37:g.102548771G>T	ENSP00000216281:p.Ser589*					HSP90AA1_uc001ykv.3_Nonsense_Mutation_p.S711*	p.S589*	NM_005348	NP_005339	P07900	HS90A_HUMAN			10	1956	-			589					A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Nonsense_Mutation	SNP	ENST00000216281.8	37	c.1766C>A	CCDS9967.1	.	.	.	.	.	.	.	.	.	.	g	41	8.622334	0.98888	.	.	ENSG00000080824	ENST00000216281;ENST00000334701	.	.	.	4.3	4.3	0.51218	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.7232	17.1306	0.86725	0.0:0.0:1.0:0.0	.	.	.	.	X	589;711	.	ENSP00000216281:S589X	S	-	2	0	HSP90AA1	101618524	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.448000	0.97600	2.116000	0.64780	0.585000	0.79938	TCA		0.388	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	NM_005348		8	7	1	0	0.00307968	0.00308	0.00328514	8	7				
CYFIP1	23191	broad.mit.edu	37	15	22933576	22933576	+	Silent	SNP	A	A	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:22933576A>G	ENST00000313077.7	+	7	710	c.585A>G	c.(583-585)ttA>ttG	p.L195L	CYFIP1_ENST00000560848.1_Silent_p.L195L	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		CTCAGTTTTTACGTAAAATGG	0.403																																							uc001yus.2		NA																	0				ovary(4)|pancreas(3)|liver(1)|skin(1)	9						c.(583-585)TTA>TTG		cytoplasmic FMR1 interacting protein 1 isoform							82.0	75.0	77.0					15																	22933576		2203	4300	6503	SO:0001819	synonymous_variant	23191				axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	g.chr15:22933576A>G	D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.585A>G	15.37:g.22933576A>G						CYFIP1_uc001yut.2_Silent_p.L195L|CYFIP1_uc010aya.1_Silent_p.L223L	p.L195L	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)	7	689	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	195						Silent	SNP	ENST00000313077.7	37	c.585A>G	CCDS10009.1																																																																																				0.403	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608		8	17	0	0	0	0.000978	0	8	17				
NPAP1	23742	broad.mit.edu	37	15	24921406	24921406	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:24921406G>T	ENST00000329468.2	+	1	866	c.392G>T	c.(391-393)cGt>cTt	p.R131L		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	131					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											CCTTCACCACGTGAGCCGGCG	0.632																																							uc001ywo.2		NA																	0				ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(391-393)CGT>CTT		hypothetical protein LOC23742							50.0	43.0	45.0					15																	24921406		2203	4300	6503	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24921406G>T	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.392G>T	15.37:g.24921406G>T	ENSP00000333735:p.Arg131Leu						p.R131L	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	866	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	131						Missense_Mutation	SNP	ENST00000329468.2	37	c.392G>T	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	4.870	0.161708	0.09287	.	.	ENSG00000185823	ENST00000329468	T	0.05996	3.36	2.27	-2.42	0.06542	.	4.968620	0.00575	N	0.000313	T	0.03739	0.0106	N	0.14661	0.345	0.09310	N	1	B	0.23990	0.095	B	0.24974	0.057	T	0.33033	-0.9884	10	0.30078	T	0.28	.	0.3831	0.00398	0.1975:0.3231:0.2042:0.2752	.	131	Q9NZP6	CO002_HUMAN	L	131	ENSP00000333735:R131L	ENSP00000333735:R131L	R	+	2	0	C15orf2	22472499	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.494000	0.06451	-0.571000	0.06014	-2.002000	0.00443	CGT		0.632	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		4	56	1	0	0.00024832	0.009096	0.000277424	4	56				
NPAP1	23742	broad.mit.edu	37	15	24923500	24923500	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:24923500C>T	ENST00000329468.2	+	1	2960	c.2486C>T	c.(2485-2487)cCt>cTt	p.P829L		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	829					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											AATACCACCCCTCCTTCCAAA	0.498																																							uc001ywo.2		NA																	0				ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(2485-2487)CCT>CTT		hypothetical protein LOC23742							140.0	130.0	133.0					15																	24923500		2203	4300	6503	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24923500C>T	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.2486C>T	15.37:g.24923500C>T	ENSP00000333735:p.Pro829Leu						p.P829L	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	2960	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	829						Missense_Mutation	SNP	ENST00000329468.2	37	c.2486C>T	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	12.47	1.948563	0.34377	.	.	ENSG00000185823	ENST00000329468	T	0.13089	2.62	1.99	1.0	0.19881	.	.	.	.	.	T	0.13372	0.0324	N	0.22421	0.69	0.09310	N	1	D	0.71674	0.998	P	0.55545	0.778	T	0.23084	-1.0198	9	0.25106	T	0.35	.	5.5895	0.17293	0.3237:0.6763:0.0:0.0	.	829	Q9NZP6	CO002_HUMAN	L	829	ENSP00000333735:P829L	ENSP00000333735:P829L	P	+	2	0	C15orf2	22474593	0.003000	0.15002	0.002000	0.10522	0.103000	0.19146	0.889000	0.28282	0.369000	0.24510	0.536000	0.68110	CCT		0.498	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		14	73	0	0	0	0.004007	0	14	73				
GABRB3	2562	broad.mit.edu	37	15	26825485	26825485	+	Silent	SNP	C	C	T	rs568658714		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:26825485C>T	ENST00000311550.5	-	6	774	c.663G>A	c.(661-663)agG>agA	p.R221R	GABRB3_ENST00000400188.3_Silent_p.R150R|GABRB3_ENST00000541819.2_Silent_p.R277R|GABRB3_ENST00000299267.4_Silent_p.R221R|GABRB3_ENST00000545868.1_Silent_p.R136R	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	221					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AGACAACATTCCTCGAGACCA	0.552																																							uc001zaz.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5						c.(661-663)AGG>AGA		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						117.0	108.0	111.0					15																	26825485		2203	4300	6503	SO:0001819	synonymous_variant	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26825485C>T		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.663G>A	15.37:g.26825485C>T						GABRB3_uc010uae.1_Silent_p.R136R|GABRB3_uc001zba.2_Silent_p.R221R|GABRB3_uc001zbb.2_Silent_p.R277R	p.R221R	NM_000814	NP_000805	P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	6	805	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	221			Extracellular (Probable).		B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Silent	SNP	ENST00000311550.5	37	c.663G>A	CCDS10019.1																																																																																				0.552	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			14	61	0	0	0	0.004007	0	14	61				
GABRA5	2558	broad.mit.edu	37	15	27185199	27185199	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:27185199A>T	ENST00000335625.5	+	9	1740	c.852A>T	c.(850-852)gaA>gaT	p.E284D	GABRA5_ENST00000355395.5_Missense_Mutation_p.E284D|GABRB3_ENST00000541819.2_5'Flank|GABRA5_ENST00000400081.3_Missense_Mutation_p.E284D	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	284					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	TGAACCGGGAATCAGTCCCAG	0.512																																							uc001zbd.1		NA																	0				ovary(1)	1						c.(850-852)GAA>GAT		gamma-aminobutyric acid A receptor, alpha 5	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						81.0	76.0	77.0					15																	27185199		1940	4160	6100	SO:0001583	missense	2558				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27185199A>T		CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4079	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 5"""	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.852A>T	15.37:g.27185199A>T	ENSP00000335592:p.Glu284Asp					GABRB3_uc001zbb.2_5'Flank	p.E284D	NM_000810	NP_000801	P31644	GBRA5_HUMAN		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	10	1191	+		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)	284					A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Missense_Mutation	SNP	ENST00000335625.5	37	c.852A>T	CCDS45194.1	.	.	.	.	.	.	.	.	.	.	A	15.27	2.785107	0.49997	.	.	ENSG00000186297	ENST00000335625;ENST00000355395;ENST00000400081	D;D;D	0.84944	-1.92;-1.92;-1.92	5.36	-0.502	0.12004	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.82595	0.5071	L	0.31926	0.97	0.53005	D	0.999968	D	0.89917	1.0	D	0.87578	0.998	T	0.78018	-0.2368	10	0.02654	T	1	.	9.2907	0.37784	0.6603:0.0:0.3397:0.0	.	284	P31644	GBRA5_HUMAN	D	284	ENSP00000335592:E284D;ENSP00000347557:E284D;ENSP00000382953:E284D	ENSP00000335592:E284D	E	+	3	2	GABRA5	24767945	0.768000	0.28519	0.937000	0.37676	0.969000	0.65631	0.014000	0.13333	-0.204000	0.10235	-0.411000	0.06167	GAA		0.512	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1			6	16	0	0	0	0.001984	0	6	16				
GABRG3	2567	broad.mit.edu	37	15	27222262	27222262	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:27222262G>T	ENST00000333743.6	+	2	421	c.167G>T	c.(166-168)aGa>aTa	p.R56I	GABRG3_ENST00000555083.1_Missense_Mutation_p.R56I	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	56					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AAGTTGCTAAGAGAATATGAT	0.348																																					NSCLC(114;800 1656 7410 37729 45293)	NSCLC(114;800 1656 7410 37729 45293)	uc001zbg.1		NA																	0					0						c.(166-168)AGA>ATA		gamma-aminobutyric acid (GABA) A receptor, gamma							100.0	99.0	99.0					15																	27222262		1823	4077	5900	SO:0001583	missense	2567				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27222262G>T		CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4088	protein-coding gene	gene with protein product	"""GABA(G) receptor, gamma 3"""	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.167G>T	15.37:g.27222262G>T	ENSP00000331912:p.Arg56Ile					GABRG3_uc001zbf.2_Missense_Mutation_p.R56I	p.R56I	NM_033223	NP_150092	Q99928	GBRG3_HUMAN		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	2	333	+		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)	56			Extracellular (Probable).		G3V594|Q9HD46|Q9NYT2	Missense_Mutation	SNP	ENST00000333743.6	37	c.167G>T	CCDS45195.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.244753	0.59103	.	.	ENSG00000182256	ENST00000333743;ENST00000555083	T;T	0.79653	-1.29;-1.29	5.28	5.28	0.74379	Neurotransmitter-gated ion-channel ligand-binding (3);	0.275715	0.39544	N	0.001329	T	0.79329	0.4427	L	0.51914	1.62	0.54753	D	0.999985	B;B	0.30605	0.287;0.169	B;B	0.39299	0.296;0.142	T	0.79519	-0.1770	10	0.72032	D	0.01	.	11.7036	0.51585	0.0815:0.0:0.9185:0.0	.	56;56	Q99928;G3V594	GBRG3_HUMAN;.	I	56	ENSP00000331912:R56I;ENSP00000452244:R56I	ENSP00000331912:R56I	R	+	2	0	GABRG3	24805008	1.000000	0.71417	0.987000	0.45799	0.995000	0.86356	6.400000	0.73252	2.618000	0.88619	0.557000	0.71058	AGA		0.348	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2			12	76	1	0	1.5739e-10	0.004007	2.19754e-10	12	76				
GABRG3	2567	broad.mit.edu	37	15	27772703	27772703	+	Silent	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:27772703G>C	ENST00000333743.6	+	8	1244	c.990G>C	c.(988-990)gcG>gcC	p.A330A	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	330					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCTTCGCCGCGCTGATGGAGT	0.552																																					NSCLC(114;800 1656 7410 37729 45293)	NSCLC(114;800 1656 7410 37729 45293)	uc001zbg.1		NA																	0					0						c.(988-990)GCG>GCC		gamma-aminobutyric acid (GABA) A receptor, gamma							108.0	99.0	102.0					15																	27772703		2153	4263	6416	SO:0001819	synonymous_variant	2567				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27772703G>C		CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4088	protein-coding gene	gene with protein product	"""GABA(G) receptor, gamma 3"""	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.990G>C	15.37:g.27772703G>C							p.A330A	NM_033223	NP_150092	Q99928	GBRG3_HUMAN		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	8	1156	+		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)	330			Helical; (Probable).		G3V594|Q9HD46|Q9NYT2	Silent	SNP	ENST00000333743.6	37	c.990G>C	CCDS45195.1	.	.	.	.	.	.	.	.	.	.	G	2.342	-0.350807	0.05173	.	.	ENSG00000182256	ENST00000451330	.	.	.	5.48	-11.0	0.00169	.	.	.	.	.	T	0.32823	0.0842	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40905	-0.9538	4	.	.	.	.	2.3326	0.04239	0.3715:0.1491:0.3514:0.128	.	.	.	.	P	93	.	.	R	+	2	0	GABRG3	25446298	0.000000	0.05858	0.136000	0.22124	0.376000	0.30014	-2.492000	0.00973	-2.679000	0.00409	-2.631000	0.00153	CGC		0.552	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2			4	7	0	0	0	0.000602	0	4	7				
HERC2	8924	broad.mit.edu	37	15	28358796	28358796	+	Missense_Mutation	SNP	C	C	A	rs143209042		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:28358796C>A	ENST00000261609.7	-	91	14050	c.13942G>T	c.(13942-13944)Gct>Tct	p.A4648S		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TCCCGAACAGCAGCCACCTGC	0.542																																							uc001zbj.2		NA																	0				ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(13942-13944)GCT>TCT		hect domain and RLD 2		C	SER/ALA	1,4405	2.1+/-5.4	0,1,2202	109.0	100.0	103.0		13942	5.3	1.0	15	dbSNP_134	103	0,8600		0,0,4300	no	missense	HERC2	NM_004667.4	99	0,1,6502	AA,AC,CC		0.0,0.0227,0.0077	probably-damaging	4648/4835	28358796	1,13005	2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28358796C>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.13942G>T	15.37:g.28358796C>A	ENSP00000261609:p.Ala4648Ser					HERC2_uc001zbi.2_Missense_Mutation_p.A337S	p.A4648S	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	91	14048	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	4648			HECT.			Missense_Mutation	SNP	ENST00000261609.7	37	c.13942G>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.517915	0.85495	2.27E-4	0.0	ENSG00000128731	ENST00000261609	T	0.61742	0.08	5.29	5.29	0.74685	HECT (4);	0.056184	0.64402	D	0.000001	T	0.68668	0.3026	M	0.80183	2.485	0.80722	D	1	P;P	0.38300	0.626;0.605	B;B	0.43783	0.219;0.431	T	0.72978	-0.4127	10	0.59425	D	0.04	.	19.0017	0.92837	0.0:1.0:0.0:0.0	.	4648;337	O95714;Q8ND39	HERC2_HUMAN;.	S	4648	ENSP00000261609:A4648S	ENSP00000261609:A4648S	A	-	1	0	HERC2	26032391	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.787000	0.85759	2.499000	0.84300	0.555000	0.69702	GCT		0.542	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		12	21	1	0	2.32078e-09	0.003163	3.14299e-09	12	21				
GOLGA8F	100132565	broad.mit.edu	37	15	28632777	28632777	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:28632777G>T	ENST00000450328.2	+	14	1589	c.691G>T	c.(691-693)Ggg>Tgg	p.G231W	GOLGA8F_ENST00000337838.7_Intron|AC091304.1_ENST00000408123.1_RNA|GOLGA8F_ENST00000526619.2_Missense_Mutation_p.G235W|RN7SL238P_ENST00000465782.2_RNA|GOLGA8F_ENST00000532622.2_Missense_Mutation_p.G449W			Q08AF8	GOG8F_HUMAN	golgin A8 family, member F	231						Golgi apparatus (GO:0005794)				lung(4)	4						GGACAGTGAGGGGGAGGAGGC	0.612																																							uc010uag.1		NA																	0					0						c.(1309-1311)GGG>TGG		golgi autoantigen, golgin subfamily a, 8F							17.0	29.0	25.0					15																	28632777		622	1568	2190	SO:0001583	missense	100132565							g.chr15:28632777G>T			15q13.1	2013-01-17	2010-02-12		ENSG00000153684	ENSG00000153684			32378	other	unknown			"""golgi autoantigen, golgin subfamily a, 8F"""			12477932	Standard	NR_033351		Approved	DKFZp434P162	uc010uag.1	Q08AF8	OTTHUMG00000167129	ENST00000450328.2:c.691G>T	15.37:g.28632777G>T	ENSP00000455253:p.Gly231Trp					GOLGA8G_uc001zbp.3_Missense_Mutation_p.G231W|GOLGA8G_uc001zbo.2_Intron|GOLGA8G_uc001zbn.2_Missense_Mutation_p.G235W	p.G437W	NM_001164328	NP_001157800					15	1433	+								A4FTY1|Q1A5X9|Q8NDK0	Missense_Mutation	SNP	ENST00000450328.2	37	c.1309G>T																																																																																					0.612	GOLGA8F-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NR_033351.1		8	44	1	0	2.39556e-15	0.00278	3.71838e-15	8	44				
TRPM1	4308	broad.mit.edu	37	15	31294741	31294741	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:31294741C>T	ENST00000256552.6	-	28	4309	c.4162G>A	c.(4162-4164)Gaa>Aaa	p.E1388K	TRPM1_ENST00000397795.2_Missense_Mutation_p.E1366K|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000542188.1_Missense_Mutation_p.E1405K	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GTCTGTCTTTCATCATCTTCC	0.378																																							uc001zfm.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(4096-4098)GAA>AAA		transient receptor potential cation channel,							165.0	156.0	159.0					15																	31294741		1867	4108	5975	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31294741C>T	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.4162G>A	15.37:g.31294741C>T	ENSP00000256552:p.Glu1388Lys					TRPM1_uc010azy.2_Missense_Mutation_p.E1273K|TRPM1_uc001zfl.2_RNA	p.E1366K	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	27	4224	-		all_lung(180;1.92e-11)	1366			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000256552.6	37	c.4096G>A	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	C	10.69	1.420892	0.25639	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.54071	0.61;0.59;0.62	4.38	4.38	0.52667	.	0.679376	0.13377	N	0.392480	T	0.41442	0.1159	N	0.19112	0.55	0.25500	N	0.987565	B;B	0.21225	0.053;0.032	B;B	0.28916	0.096;0.044	T	0.22243	-1.0222	10	0.22109	T	0.4	-7.2655	15.3346	0.74241	0.0:1.0:0.0:0.0	.	1360;1366	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	K	1366;1405;1388;1366	ENSP00000380897:E1366K;ENSP00000437849:E1405K;ENSP00000256552:E1388K	ENSP00000256552:E1388K	E	-	1	0	TRPM1	29082033	0.006000	0.16342	0.063000	0.19743	0.147000	0.21601	0.605000	0.24179	2.249000	0.74217	0.650000	0.86243	GAA		0.378	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		20	51	0	0	0	0.010504	0	20	51				
GREM1	26585	broad.mit.edu	37	15	33023329	33023329	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:33023329C>A	ENST00000300177.4	+	2	627	c.438C>A	c.(436-438)ccC>ccA	p.P146P	GREM1_ENST00000560830.1_Silent_p.P105P|GREM1_ENST00000560677.1_3'UTR|GREM1_ENST00000322805.4_Silent_p.P105P	NM_001191322.1|NM_001191323.1|NM_013372.6	NP_001178251.1|NP_001178252.1|NP_037504.1	O60565	GREM1_HUMAN	gremlin 1, DAN family BMP antagonist	146	CTCK.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell morphogenesis (GO:0000902)|collagen fibril organization (GO:0030199)|determination of dorsal identity (GO:0048263)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of bone mineralization (GO:0030502)|negative regulation of bone mineralization involved in bone maturation (GO:1900158)|negative regulation of bone remodeling (GO:0046851)|negative regulation of bone trabecula formation (GO:1900155)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-tyrosine autophosphorylation (GO:1900086)|positive regulation of receptor activity (GO:2000273)|positive regulation of receptor internalization (GO:0002092)|positive regulation of telomerase activity (GO:0051973)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|regulation of epithelial to mesenchymal transition (GO:0010717)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	BMP binding (GO:0036122)|morphogen activity (GO:0016015)|receptor agonist activity (GO:0048018)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)	10		all_lung(180;1.49e-09)		all cancers(64;2.97e-18)|Epithelial(43;3.15e-12)|GBM - Glioblastoma multiforme(186;2.32e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0107)		TCTGCAAGCCCAAGAAATTCA	0.502																																							uc001zhe.1		NA																	0					0						c.(436-438)CCC>CCA		gremlin-1 precursor							94.0	81.0	85.0					15																	33023329		2201	4300	6501	SO:0001819	synonymous_variant	26585				negative regulation of BMP signaling pathway|nervous system development|regulation of epithelial to mesenchymal transition	extracellular space	cytokine activity	g.chr15:33023329C>A		CCDS10029.1, CCDS53927.1	15q13.3	2014-02-07	2013-02-26	2004-05-07	ENSG00000166923	ENSG00000166923			2001	protein-coding gene	gene with protein product		603054	"""cysteine knot superfamily 1, BMP antagonist 1"", ""gremlin 1, cysteine knot superfamily, homolog (Xenopus laevis)"", ""gremlin 1"", ""colorectal adenoma and carcinoma 1"""	CKTSF1B1, CRAC1		9660951, 10026205, 22561515	Standard	NM_013372		Approved	DRM, gremlin, DAND2, HMPS	uc001zhe.2	O60565	OTTHUMG00000129319	ENST00000300177.4:c.438C>A	15.37:g.33023329C>A						GREM1_uc001zhd.1_Silent_p.P76P|GREM1_uc010uby.1_Silent_p.P105P	p.P146P	NM_013372	NP_037504	O60565	GREM1_HUMAN		all cancers(64;2.97e-18)|Epithelial(43;3.15e-12)|GBM - Glioblastoma multiforme(186;2.32e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0107)	2	597	+		all_lung(180;1.49e-09)	146			CTCK.		Q52LV3|Q8N914|Q8N936	Silent	SNP	ENST00000300177.4	37	c.438C>A	CCDS10029.1																																																																																				0.502	GREM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251455.2	NM_013372		22	46	1	0	4.26978e-12	0.00333	6.21857e-12	22	46				
RYR3	6263	broad.mit.edu	37	15	33951980	33951980	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:33951980G>T	ENST00000389232.4	+	33	4438	c.4368G>T	c.(4366-4368)ttG>ttT	p.L1456F	RYR3_ENST00000415757.3_Missense_Mutation_p.L1456F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1456	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GTACTTCTTTGTTTCAGTTTG	0.433																																							uc001zhi.2		NA																	0				ovary(5)|central_nervous_system(4)|lung(1)	10						c.(4366-4368)TTG>TTT		ryanodine receptor 3							102.0	94.0	97.0					15																	33951980		1868	4110	5978	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33951980G>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.4368G>T	15.37:g.33951980G>T	ENSP00000373884:p.Leu1456Phe					RYR3_uc010bar.2_Missense_Mutation_p.L1456F	p.L1456F	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	33	4438	+		all_lung(180;7.18e-09)	1456			4 X approximate repeats.|B30.2/SPRY 3.|Cytoplasmic (By similarity).		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.4368G>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.328223	0.60743	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.69561	-0.41;-0.41	4.96	3.09	0.35607	SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	D	0.000005	T	0.75042	0.3796	L	0.53249	1.67	0.49483	D	0.999799	D;D	0.69078	0.962;0.997	P;D	0.72625	0.7;0.978	T	0.75085	-0.3442	10	0.72032	D	0.01	.	10.3786	0.44096	0.2207:0.0:0.7793:0.0	.	1456;1456	Q15413-2;Q15413	.;RYR3_HUMAN	F	1456	ENSP00000373884:L1456F;ENSP00000399610:L1456F	ENSP00000354735:L1456F	L	+	3	2	RYR3	31739272	1.000000	0.71417	0.991000	0.47740	0.988000	0.76386	2.326000	0.43849	0.678000	0.31325	0.643000	0.83706	TTG		0.433	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			7	27	1	0	1.12685e-05	0.004482	1.32356e-05	7	27				
RYR3	6263	broad.mit.edu	37	15	34110877	34110877	+	Silent	SNP	G	G	A	rs200309704	byFrequency	TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:34110877G>A	ENST00000389232.4	+	76	10768	c.10698G>A	c.(10696-10698)acG>acA	p.T3566T	RYR3_ENST00000415757.3_Silent_p.T3561T	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3566					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.T3565T(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACGCTCTCACGGAGAGGAGGT	0.517													G|||	3	0.000599042	0.0023	0.0	5008	,	,		19100	0.0		0.0	False		,,,				2504	0.0						uc001zhi.2		NA																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(10696-10698)ACG>ACA		ryanodine receptor 3		G		11,4119		0,11,2054	82.0	87.0	86.0		10698	-10.0	0.5	15		86	0,8410		0,0,4205	no	coding-synonymous	RYR3	NM_001036.3		0,11,6259	AA,AG,GG		0.0,0.2663,0.0877		3566/4871	34110877	11,12529	2065	4205	6270	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34110877G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.10698G>A	15.37:g.34110877G>A						RYR3_uc010bar.2_Silent_p.T3561T	p.T3566T	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	76	10768	+		all_lung(180;7.18e-09)	3566					O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.10698G>A	CCDS45210.1																																																																																				0.517	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			9	14	0	0	0	0.000978	0	9	14				
NUTM1	256646	broad.mit.edu	37	15	34646724	34646724	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:34646724C>A	ENST00000333756.4	+	5	1224	c.1069C>A	c.(1069-1071)Cct>Act	p.P357T	NUTM1_ENST00000438749.3_Missense_Mutation_p.P375T|NUTM1_ENST00000537011.1_Missense_Mutation_p.P385T	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	357						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.P357T(1)									ACCTCCTGCTCCTGAGGCACC	0.587																																							uc001zif.2		NA								T					BRD3|BRD4		lethal midline carcinoma	BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	1	Substitution - Missense(1)		lung(1)	midline_organs(25)|ovary(2)|lung(2)|skin(1)	30						c.(1069-1071)CCT>ACT		nuclear protein in testis							97.0	100.0	99.0					15																	34646724		2201	4298	6499	SO:0001583	missense	256646					cytoplasm|nucleus		g.chr15:34646724C>A	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.1069C>A	15.37:g.34646724C>A	ENSP00000329448:p.Pro357Thr					C15orf55_uc010ucc.1_Missense_Mutation_p.P385T|C15orf55_uc010ucd.1_Missense_Mutation_p.P375T	p.P357T	NM_175741	NP_786883	Q86Y26	NUT_HUMAN		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)	5	1224	+		all_lung(180;2.78e-08)	357					B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Missense_Mutation	SNP	ENST00000333756.4	37	c.1069C>A	CCDS32190.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.551856	0.45487	.	.	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000333756	T;T;T	0.06933	3.24;3.24;3.24	4.79	3.84	0.44239	Nuclear Testis protein, C-terminal (1);	0.120581	0.38217	N	0.001775	T	0.11836	0.0288	L	0.38175	1.15	0.31670	N	0.644492	D;D;D	0.63880	0.993;0.992;0.99	P;P;P	0.61070	0.883;0.813;0.823	T	0.00847	-1.1542	10	0.02654	T	1	.	10.1068	0.42539	0.3646:0.6354:0.0:0.0	.	375;385;357	E7EVE8;F5H4I6;Q86Y26	.;.;NUT_HUMAN	T	385;375;357	ENSP00000444896:P385T;ENSP00000407031:P375T;ENSP00000329448:P357T	ENSP00000329448:P357T	P	+	1	0	C15orf55	32434016	0.001000	0.12720	0.718000	0.30602	0.956000	0.61745	0.732000	0.26072	1.313000	0.45069	0.591000	0.81541	CCT		0.587	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		21	33	1	0	7.45023e-12	0.010504	1.08294e-11	21	33				
THBS1	7057	broad.mit.edu	37	15	39882765	39882766	+	Missense_Mutation	DNP	GA	GA	TG			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	GA	GA	-	-	GA	GA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:39882765_39882766GA>TG	ENST00000260356.5	+	14	2359_2360	c.2194_2195GA>TG	c.(2194-2196)GAt>TGt	p.D732C		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	732					activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		CTATGACAAGGATGGAATTGGT	0.416																																							uc001zkh.2		NA																	0				ovary(3)|central_nervous_system(3)	6						c.(2194-2196)GAT>TGT		thrombospondin 1 precursor	Becaplermin(DB00102)																																			SO:0001583	missense	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39882765_39882766GA>TG		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	Exception_encountered	15.37:g.39882765_39882766delinsTG	ENSP00000260356:p.Asp732Cys					THBS1_uc010bbi.2_Missense_Mutation_p.D204C	p.D732C	NM_003246	NP_003237	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	14	2373_2374	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)	732			TSP type-3 2.		A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	DNP	ENST00000260356.5	37	c.2194_2195GA>TG	CCDS32194.1																																																																																				0.416	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		19	40	0	0	0	0.004672	0	19	40				
BAHD1	22893	broad.mit.edu	37	15	40750889	40750889	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:40750889C>T	ENST00000416165.1	+	2	297	c.226C>T	c.(226-228)Cgc>Tgc	p.R76C	BAHD1_ENST00000561234.1_Missense_Mutation_p.R76C|BAHD1_ENST00000560846.1_Missense_Mutation_p.R76C	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	76					heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		GCTGCTGACTCGCCTGGAGAA	0.637																																							uc001zlu.2		NA																	0					0						c.(226-228)CGC>TGC		bromo adjacent homology domain containing 1							52.0	52.0	52.0					15																	40750889		2203	4300	6503	SO:0001583	missense	22893				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding	g.chr15:40750889C>T	AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.226C>T	15.37:g.40750889C>T	ENSP00000396976:p.Arg76Cys					BAHD1_uc001zlt.2_Missense_Mutation_p.R76C|BAHD1_uc010bbp.1_Missense_Mutation_p.R76C|BAHD1_uc001zlv.2_Missense_Mutation_p.R76C	p.R76C	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)	2	297	+		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	76					Q8NDF7|Q9Y2F4	Missense_Mutation	SNP	ENST00000416165.1	37	c.226C>T	CCDS10058.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.222077	0.58560	.	.	ENSG00000140320	ENST00000416165	T	0.37411	1.2	5.13	5.13	0.70059	.	0.000000	0.64402	D	0.000001	T	0.41419	0.1158	N	0.14661	0.345	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	T	0.41520	-0.9504	10	0.87932	D	0	-20.9948	11.5653	0.50802	0.3006:0.6994:0.0:0.0	.	76;76;76	Q8TBE0-3;Q8TBE0;Q8TBE0-2	.;BAHD1_HUMAN;.	C	76	ENSP00000396976:R76C	ENSP00000396976:R76C	R	+	1	0	BAHD1	38538181	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	1.899000	0.39818	2.664000	0.90586	0.650000	0.86243	CGC		0.637	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252248.1	NM_014952		7	37	0	0	0	0.004482	0	7	37				
INO80	54617	broad.mit.edu	37	15	41387985	41387985	+	Silent	SNP	T	T	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:41387985T>C	ENST00000361937.3	-	3	709	c.285A>G	c.(283-285)acA>acG	p.T95T	INO80_ENST00000401393.3_Silent_p.T95T			Q9ULG1	INO80_HUMAN	INO80 complex subunit	95	Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TCAGAGAATATGTGTTTAACA	0.428																																							uc001zni.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(283-285)ACA>ACG		INO80 complex homolog 1							70.0	75.0	73.0					15																	41387985		2203	4300	6503	SO:0001819	synonymous_variant	54617				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity	g.chr15:41387985T>C	AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.285A>G	15.37:g.41387985T>C						INO80_uc010ucu.1_RNA	p.T95T	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN			3	498	-			95			Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D.		A6H8X4|Q9NTG6	Silent	SNP	ENST00000361937.3	37	c.285A>G	CCDS10071.1																																																																																				0.428	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553		9	44	0	0	0	0.000978	0	9	44				
MGA	23269	broad.mit.edu	37	15	42000361	42000361	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:42000361G>T	ENST00000570161.1	+	6	2380	c.2380G>T	c.(2380-2382)Gga>Tga	p.G794*	MGA_ENST00000566586.1_Nonsense_Mutation_p.G794*|MGA_ENST00000389936.4_Nonsense_Mutation_p.G794*|MGA_ENST00000545763.1_Nonsense_Mutation_p.G794*|MGA_ENST00000219905.7_Nonsense_Mutation_p.G794*			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TAAGATCAAGGGATGGAGGGG	0.343																																							uc001zog.1		NA																	0				ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12						c.(2380-2382)GGA>TGA		MAX-interacting protein isoform 2							61.0	56.0	57.0					15																	42000361		1806	4079	5885	SO:0001587	stop_gained	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42000361G>T	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.2380G>T	15.37:g.42000361G>T	ENSP00000457035:p.Gly794*					MGA_uc010ucy.1_Nonsense_Mutation_p.G794*|MGA_uc010ucz.1_Nonsense_Mutation_p.G794*	p.G794*	NM_001080541	NP_001074010	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	7	2471	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	794					Q0VAX6|Q75ME7|Q86UM5	Nonsense_Mutation	SNP	ENST00000570161.1	37	c.2380G>T	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	G	41	8.972955	0.99021	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	.	.	.	6.01	6.01	0.97437	.	0.225627	0.36200	N	0.002728	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.5141	0.99211	0.0:0.0:1.0:0.0	.	.	.	.	X	794	.	ENSP00000219905:G794X	G	+	1	0	MGA	39787653	1.000000	0.71417	0.989000	0.46669	0.982000	0.71751	8.681000	0.91228	2.850000	0.98022	0.655000	0.94253	GGA		0.343	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		3	5	1	0	0.004672	0.004672	0.00493414	3	5				
PLA2G4F	255189	broad.mit.edu	37	15	42436757	42436757	+	Silent	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:42436757C>G	ENST00000382396.4	-	17	1952	c.1866G>C	c.(1864-1866)gtG>gtC	p.V622V	PLA2G4F_ENST00000397272.3_Silent_p.V624V			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	622	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		ATATGTCCAGCACAGCCTGGG	0.622																																							uc001zoz.2		NA																	0				ovary(4)	4						c.(1864-1866)GTG>GTC		phospholipase A2, group IVF							74.0	66.0	69.0					15																	42436757		2203	4299	6502	SO:0001819	synonymous_variant	255189				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42436757C>G		CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.1866G>C	15.37:g.42436757C>G						PLA2G4F_uc010bcq.2_5'UTR|PLA2G4F_uc001zoy.2_Silent_p.V254V|PLA2G4F_uc010bcr.2_Silent_p.V373V|PLA2G4F_uc001zpa.2_Silent_p.V373V|PLA2G4F_uc010bcs.2_Silent_p.V409V	p.V622V	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	17	1929	-		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	622			PLA2c.		Q6ZMC8	Silent	SNP	ENST00000382396.4	37	c.1866G>C	CCDS32204.1																																																																																				0.622	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000420463.1	NM_213600		6	39	0	0	0	0.00308	0	6	39				
FBN1	2200	broad.mit.edu	37	15	48718036	48718036	+	Missense_Mutation	SNP	G	G	T	rs193922231		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:48718036G>T	ENST00000316623.5	-	59	7685	c.7230C>A	c.(7228-7230)caC>caA	p.H2410Q		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2410	EGF-like 41; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GGCAAACATCGTGAATAACCT	0.343																																							uc001zwx.1		NA																	0				ovary(2)|large_intestine(1)	3						c.(7228-7230)CAC>CAA		fibrillin 1 precursor							136.0	113.0	121.0					15																	48718036		2198	4296	6494	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48718036G>T	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.7230C>A	15.37:g.48718036G>T	ENSP00000325527:p.His2410Gln					FBN1_uc010beo.1_RNA	p.H2410Q	NM_000138	NP_000129	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	59	7558	-		all_lung(180;0.00279)	2410			EGF-like 41; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.7230C>A	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	g	15.22	2.768603	0.49680	.	.	ENSG00000166147	ENST00000316623	D	0.91237	-2.81	6.17	2.58	0.30949	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.191139	0.56097	D	0.000026	T	0.76248	0.3961	N	0.08118	0	0.80722	D	1	P	0.43885	0.82	B	0.35510	0.204	T	0.70809	-0.4771	10	0.31617	T	0.26	.	9.9829	0.41824	0.7405:0.0:0.2595:0.0	.	2410	P35555	FBN1_HUMAN	Q	2410	ENSP00000325527:H2410Q	ENSP00000325527:H2410Q	H	-	3	2	FBN1	46505328	0.085000	0.21516	1.000000	0.80357	0.858000	0.48976	-0.473000	0.06615	0.182000	0.20032	-0.285000	0.09966	CAC		0.343	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			9	65	1	0	7.48243e-07	0.006214	9.25655e-07	9	65				
SECISBP2L	9728	broad.mit.edu	37	15	49284862	49284862	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:49284862C>A	ENST00000559471.1	-	18	3148	c.2885G>T	c.(2884-2886)gGc>gTc	p.G962V	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.G917V	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	962							poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						ATCCAAAGAGCCAGTCTCTGT	0.488																																							uc001zxe.1		NA																	0				breast(1)|skin(1)	2						c.(2884-2886)GGC>GTC		SECIS binding protein 2-like							134.0	123.0	127.0					15																	49284862		2197	4295	6492	SO:0001583	missense	9728							g.chr15:49284862C>A	BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.2885G>T	15.37:g.49284862C>A	ENSP00000453854:p.Gly962Val					SECISBP2L_uc001zxd.1_Missense_Mutation_p.G917V	p.G962V	NM_014701	NP_055516	Q93073	SBP2L_HUMAN			18	3019	-			962					Q8N767	Missense_Mutation	SNP	ENST00000559471.1	37	c.2885G>T	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.389184	0.82902	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	T	0.75154	-0.91	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.80747	0.4682	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.82456	-0.0448	10	0.66056	D	0.02	.	18.9031	0.92451	0.0:1.0:0.0:0.0	.	962;917	Q93073;Q93073-2	SBP2L_HUMAN;.	V	917;962	ENSP00000261847:G917V	ENSP00000261847:G917V	G	-	2	0	SECISBP2L	47072154	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.300000	0.78841	2.702000	0.92279	0.655000	0.94253	GGC		0.488	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701		9	57	1	0	1.58986e-06	0.008291	1.94739e-06	9	57				
GALK2	2585	broad.mit.edu	37	15	49531417	49531417	+	Splice_Site	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:49531417G>T	ENST00000560031.1	+	5	664		c.e5-1		GALK2_ENST00000396509.2_Splice_Site|GALK2_ENST00000561014.1_3'UTR|GALK2_ENST00000543495.1_Splice_Site|GALK2_ENST00000559454.1_Splice_Site|GALK2_ENST00000544523.1_Splice_Site|GALK2_ENST00000327171.3_Splice_Site			Q01415	GALK2_HUMAN	galactokinase 2						carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		all_lung(180;0.000325)		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)		TATATTCTTAGGAACACTTTG	0.408																																							uc001zxj.1		NA																	0				breast(1)	1						c.e5-1		galactokinase 2 isoform 1							129.0	113.0	118.0					15																	49531417		2196	4295	6491	SO:0001630	splice_region_variant	2585				galactose metabolic process	cytoplasm	ATP binding|galactokinase activity|N-acetylgalactosamine kinase activity	g.chr15:49531417G>T		CCDS32236.1, CCDS42034.1, CCDS73724.1	15q21.1-q21.2	2013-09-20			ENSG00000156958	ENSG00000156958	2.7.1.6		4119	protein-coding gene	gene with protein product		137028					Standard	XM_005254279		Approved	GK2	uc001zxj.1	Q01415	OTTHUMG00000172325	ENST00000560031.1:c.358-1G>T	15.37:g.49531417G>T						GALK2_uc001zxi.1_Splice_Site_p.E109_splice|GALK2_uc010ufb.1_Splice_Site_p.E96_splice|GALK2_uc001zxk.2_Splice_Site|GALK2_uc010ufc.1_Splice_Site_p.E96_splice	p.E120_splice	NM_002044	NP_002035	Q01415	GALK2_HUMAN		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)	5	456	+		all_lung(180;0.000325)						Q7Z4Q4	Splice_Site	SNP	ENST00000560031.1	37	c.358_splice	CCDS42034.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.705284	0.68615	.	.	ENSG00000156958	ENST00000327171;ENST00000396509;ENST00000544523	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5783	0.91163	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GALK2	47318709	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	8.961000	0.93122	2.461000	0.83175	0.655000	0.94253	.		0.408	GALK2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417854.1		Intron	12	26	1	0	1.05317e-09	0.00245	1.44471e-09	12	26				
DMXL2	23312	broad.mit.edu	37	15	51855592	51855592	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:51855592C>A	ENST00000251076.5	-	6	840	c.553G>T	c.(553-555)Gct>Tct	p.A185S	DMXL2_ENST00000543779.2_Missense_Mutation_p.A185S|DMXL2_ENST00000449909.3_Missense_Mutation_p.A185S|DMXL2_ENST00000560421.1_5'UTR	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	185						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CCAGCAGTAGCAAAATATTCA	0.303																																							uc002abf.2		NA																	0				ovary(6)|skin(3)	9						c.(553-555)GCT>TCT		Dmx-like 2							71.0	67.0	69.0					15																	51855592		2195	4291	6486	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51855592C>A	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.553G>T	15.37:g.51855592C>A	ENSP00000251076:p.Ala185Ser					DMXL2_uc010ufy.1_Missense_Mutation_p.A185S|DMXL2_uc010bfa.2_Missense_Mutation_p.A185S	p.A185S	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	6	778	-			185			WD 2.		B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.553G>T	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.655700	0.67586	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.70045	-0.45;-0.45;-0.45	5.37	5.37	0.77165	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.049781	0.85682	D	0.000000	D	0.87237	0.6127	M	0.94142	3.5	0.29830	N	0.830083	P;D;P	0.69078	0.867;0.997;0.747	P;D;P	0.80764	0.654;0.994;0.469	D	0.85835	0.1394	10	0.87932	D	0	.	18.8915	0.92406	0.0:1.0:0.0:0.0	.	185;185;185	F5GWF1;B2RTR3;Q8TDJ6	.;.;DMXL2_HUMAN	S	185	ENSP00000251076:A185S;ENSP00000441858:A185S;ENSP00000400855:A185S	ENSP00000251076:A185S	A	-	1	0	DMXL2	49642884	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.155000	0.71833	2.796000	0.96246	0.585000	0.79938	GCT		0.303	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		6	19	1	0	8.12818e-05	0.001984	9.21236e-05	6	19				
WDR72	256764	broad.mit.edu	37	15	53908067	53908067	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:53908067T>G	ENST00000396328.1	-	15	2575	c.2336A>C	c.(2335-2337)cAg>cCg	p.Q779P	WDR72_ENST00000559418.1_Missense_Mutation_p.Q789P|WDR72_ENST00000360509.5_Missense_Mutation_p.Q779P|WDR72_ENST00000557913.1_Missense_Mutation_p.Q776P	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	779										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TGGCTTAGGCTGCATTTTTTT	0.383																																							uc002acj.2		NA																	0				lung(1)|skin(1)	2						c.(2335-2337)CAG>CCG		WD repeat domain 72							189.0	179.0	182.0					15																	53908067		2194	4293	6487	SO:0001583	missense	256764							g.chr15:53908067T>G	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.2336A>C	15.37:g.53908067T>G	ENSP00000379619:p.Gln779Pro					WDR72_uc010bfi.1_Missense_Mutation_p.Q779P	p.Q779P	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	15	2378	-			779					Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	c.2336A>C	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	T	8.126	0.781918	0.16189	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.35973	1.28;1.28	5.69	4.54	0.55810	.	0.647188	0.16220	N	0.224079	T	0.20047	0.0482	N	0.14661	0.345	0.09310	N	1	B	0.31730	0.337	B	0.22601	0.04	T	0.10337	-1.0634	10	0.40728	T	0.16	.	9.8828	0.41245	0.0:0.1443:0.0:0.8557	.	779	Q3MJ13	WDR72_HUMAN	P	779	ENSP00000379619:Q779P;ENSP00000353699:Q779P	ENSP00000353699:Q779P	Q	-	2	0	WDR72	51695359	0.002000	0.14202	0.001000	0.08648	0.400000	0.30750	0.498000	0.22530	0.948000	0.37687	0.460000	0.39030	CAG		0.383	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		22	102	0	0	0	0.00278	0	22	102				
CILP	8483	broad.mit.edu	37	15	65494368	65494368	+	Splice_Site	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:65494368C>T	ENST00000261883.4	-	8	1195		c.e8-1			NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase						negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						ATTATGATACCTGCAAGGGAT	0.527																																							uc002aon.2		NA																	0				ovary(4)|pancreas(2)|skin(1)	7						c.e8-1		cartilage intermediate layer protein							80.0	77.0	78.0					15																	65494368		2201	4299	6500	SO:0001630	splice_region_variant	8483				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		g.chr15:65494368C>T	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.1029-1G>A	15.37:g.65494368C>T							p.W343_splice	NM_003613	NP_003604	O75339	CILP1_HUMAN			8	1210	-								B2R8F7|Q6UW99|Q8IYI5	Splice_Site	SNP	ENST00000261883.4	37	c.1029_splice	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.481678	0.84747	.	.	ENSG00000138615	ENST00000261883	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0138	0.92886	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CILP	63281421	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.535000	0.82014	2.806000	0.96561	0.650000	0.86243	.		0.527	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613	Intron	6	39	0	0	0	0.001984	0	6	39				
IGDCC4	57722	broad.mit.edu	37	15	65676739	65676739	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:65676739A>G	ENST00000352385.2	-	20	3570	c.3361T>C	c.(3361-3363)Tca>Cca	p.S1121P	IGDCC4_ENST00000558048.1_5'UTR	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	1121						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GCTGGGGGTGACTTCTTCCTC	0.512																																							uc002aou.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(3361-3363)TCA>CCA		immunoglobulin superfamily, DCC subclass, member							102.0	101.0	101.0					15																	65676739		2201	4299	6500	SO:0001583	missense	57722					integral to membrane|plasma membrane		g.chr15:65676739A>G		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.3361T>C	15.37:g.65676739A>G	ENSP00000319623:p.Ser1121Pro					IGDCC4_uc002aot.1_Missense_Mutation_p.S709P	p.S1121P	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN			20	3571	-			1121			Cytoplasmic (Potential).		Q9HCE4	Missense_Mutation	SNP	ENST00000352385.2	37	c.3361T>C	CCDS10206.1	.	.	.	.	.	.	.	.	.	.	A	0.223	-1.027393	0.02045	.	.	ENSG00000103742	ENST00000352385;ENST00000356152	T	0.57273	0.41	5.19	-0.504	0.11997	.	0.301965	0.24005	N	0.042421	T	0.12561	0.0305	N	0.00436	-1.5	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25882	-1.0119	10	0.12430	T	0.62	-1.4382	2.6263	0.04930	0.1374:0.2756:0.4459:0.1411	.	1121	Q8TDY8	IGDC4_HUMAN	P	1121;850	ENSP00000319623:S1121P	ENSP00000319623:S1121P	S	-	1	0	IGDCC4	63463792	0.552000	0.26505	0.013000	0.15412	0.974000	0.67602	0.765000	0.26546	-0.378000	0.07918	-0.441000	0.05720	TCA		0.512	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		18	68	0	0	0	0.00333	0	18	68				
SMAD6	4091	broad.mit.edu	37	15	67073688	67073688	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:67073688A>T	ENST00000288840.5	+	4	2337	c.1306A>T	c.(1306-1308)Atc>Ttc	p.I436F	SMAD6_ENST00000338426.4_Missense_Mutation_p.I175F	NM_005585.4	NP_005576.3	O43541	SMAD6_HUMAN	SMAD family member 6	436	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				BMP signaling pathway (GO:0030509)|cell-substrate adhesion (GO:0031589)|fat cell differentiation (GO:0045444)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|response to estrogen (GO:0043627)|response to laminar fluid shear stress (GO:0034616)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|zygotic specification of dorsal/ventral axis (GO:0007352)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity (GO:0030617)|type I activin receptor binding (GO:0070698)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)			lung(1)|skin(1)	2						CGGCTACTCCATCAAGGTGTT	0.721																																					Esophageal Squamous(179;72 2004 22333 39628 47290)	Esophageal Squamous(179;72 2004 22333 39628 47290)	uc002aqf.2		NA																	0				skin(1)	1						c.(1306-1308)ATC>TTC		SMAD family member 6 isoform 1							10.0	15.0	14.0					15																	67073688		2147	4157	6304	SO:0001583	missense	4091				BMP signaling pathway|immune response|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of SMAD protein complex assembly|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	cytosol|transcription factor complex	co-SMAD binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding	g.chr15:67073688A>T	BC012986	CCDS10221.1	15q22.31	2014-09-11	2006-11-06	2004-05-26	ENSG00000137834	ENSG00000137834		"""SMADs"""	6772	protein-coding gene	gene with protein product		602931	"""MAD, mothers against decapentaplegic homolog 6 (Drosophila)"", ""SMAD, mothers against DPP homolog 6 (Drosophila)"""	MADH7, MADH6		9256479	Standard	NR_027654		Approved	HsT17432	uc002aqf.3	O43541	OTTHUMG00000133218	ENST00000288840.5:c.1306A>T	15.37:g.67073688A>T	ENSP00000288840:p.Ile436Phe					SMAD6_uc010bhx.2_RNA|SMAD6_uc002aqg.2_Missense_Mutation_p.I175F	p.I436F	NM_005585	NP_005576	O43541	SMAD6_HUMAN			4	2229	+			436			MH2.		A9J6M5|O43654|Q15799|Q7Z7L4|Q96E31|Q9UKZ3	Missense_Mutation	SNP	ENST00000288840.5	37	c.1306A>T	CCDS10221.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.286959	0.80803	.	.	ENSG00000137834	ENST00000288840;ENST00000338426	D;D	0.98978	-5.29;-5.29	5.62	5.62	0.85841	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.046444	0.85682	D	0.000000	D	0.99121	0.9697	M	0.82517	2.595	0.80722	D	1	D;D	0.67145	0.981;0.996	P;D	0.66602	0.691;0.945	D	0.99391	1.0925	10	0.72032	D	0.01	.	11.766	0.51930	0.8531:0.1469:0.0:0.0	.	175;436	O43541-2;O43541	.;SMAD6_HUMAN	F	436;175	ENSP00000288840:I436F;ENSP00000345054:I175F	ENSP00000288840:I436F	I	+	1	0	SMAD6	64860742	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.028000	0.70889	2.141000	0.66446	0.402000	0.26972	ATC		0.721	SMAD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256953.2	NM_005585		4	14	0	0	0	0.009096	0	4	14				
NEO1	4756	broad.mit.edu	37	15	73545747	73545747	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:73545747G>A	ENST00000339362.5	+	13	2348	c.1901G>A	c.(1900-1902)aGt>aAt	p.S634N	NEO1_ENST00000560262.1_Missense_Mutation_p.S634N|NEO1_ENST00000261908.6_Missense_Mutation_p.S634N|RP11-272D12.2_ENST00000560337.1_RNA|NEO1_ENST00000558964.1_Missense_Mutation_p.S634N			Q92859	NEO1_HUMAN	neogenin 1	634					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CTAGTTCCCAGTGCTGCTCCT	0.373																																							uc002avm.3		NA																	0				pancreas(1)	1						c.(1900-1902)AGT>AAT		neogenin homolog 1 precursor							74.0	73.0	74.0					15																	73545747		2198	4297	6495	SO:0001583	missense	4756				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		g.chr15:73545747G>A	U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.1901G>A	15.37:g.73545747G>A	ENSP00000341198:p.Ser634Asn					NEO1_uc010ukx.1_Missense_Mutation_p.S634N|NEO1_uc010uky.1_Missense_Mutation_p.S634N|NEO1_uc010ukz.1_Missense_Mutation_p.S58N|NEO1_uc002avn.3_Missense_Mutation_p.S299N	p.S634N	NM_002499	NP_002490	Q92859	NEO1_HUMAN			12	2043	+			634			Extracellular (Potential).|Fibronectin type-III 3.		B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	ENST00000339362.5	37	c.1901G>A	CCDS10247.1	.	.	.	.	.	.	.	.	.	.	g	21.8	4.205780	0.79127	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	T;T	0.54071	0.59;0.59	5.46	5.46	0.80206	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.037031	0.85682	D	0.000000	T	0.73892	0.3645	M	0.92649	3.33	0.80722	D	1	B;B;B;B	0.21688	0.044;0.029;0.005;0.059	B;B;B;B	0.40375	0.175;0.327;0.262;0.244	T	0.76198	-0.3047	10	0.87932	D	0	-5.1935	19.325	0.94258	0.0:0.0:1.0:0.0	.	634;634;372;634	B7ZKM9;B7ZKN0;E7EUX3;Q92859	.;.;.;NEO1_HUMAN	N	634;372;634	ENSP00000341198:S634N;ENSP00000261908:S634N	ENSP00000261908:S634N	S	+	2	0	NEO1	71332800	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.958000	0.87877	2.559000	0.86315	0.655000	0.94253	AGT		0.373	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499		8	22	0	0	0	0.006214	0	8	22				
LMAN1L	79748	broad.mit.edu	37	15	75114169	75114169	+	Splice_Site	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:75114169G>T	ENST00000309664.5	+	10	1198		c.e10-1		RP11-414J4.2_ENST00000564823.1_RNA|LMAN1L_ENST00000379709.3_Splice_Site	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like							integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCTATCCCCAGGCCCTGGATG	0.572																																							uc002ayt.1		NA																	0					0						c.e10-1		lectin, mannose-binding, 1 like precursor							70.0	68.0	68.0					15																	75114169		2197	4296	6493	SO:0001630	splice_region_variant	79748					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding	g.chr15:75114169G>T	AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.1060-1G>T	15.37:g.75114169G>T						LMAN1L_uc010bke.1_Splice_Site_p.A342_splice	p.A354_splice	NM_021819	NP_068591	Q9HAT1	LMA1L_HUMAN			10	1062	+								Q6UWN2	Splice_Site	SNP	ENST00000309664.5	37	c.1060_splice	CCDS10270.1	.	.	.	.	.	.	.	.	.	.	G	7.773	0.707909	0.15239	.	.	ENSG00000140506	ENST00000309664;ENST00000379709	.	.	.	4.0	0.757	0.18427	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.5848	0.07966	0.2567:0.2103:0.5329:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LMAN1L	72901222	0.862000	0.29867	0.246000	0.24233	0.031000	0.12232	0.947000	0.29082	0.078000	0.16900	0.563000	0.77884	.		0.572	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286397.4		Intron	11	60	1	0	6.40141e-05	0.000978	7.28859e-05	11	60				
C15orf39	56905	broad.mit.edu	37	15	75499772	75499772	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:75499772C>T	ENST00000360639.2	+	2	1703	c.1383C>T	c.(1381-1383)ccC>ccT	p.P461P	C15orf39_ENST00000394987.4_Silent_p.P461P|C15orf39_ENST00000567617.1_Silent_p.P461P			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	461						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CTGGGCCGCCCATCGTCATCC	0.652																																							uc002azp.3		NA																	0					0						c.(1381-1383)CCC>CCT		hypothetical protein LOC56905							40.0	47.0	44.0					15																	75499772		2197	4295	6492	SO:0001819	synonymous_variant	56905							g.chr15:75499772C>T	AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 38~Name Same As HGNC:28782"""				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.1383C>T	15.37:g.75499772C>T						C15orf39_uc002azq.3_Silent_p.P461P|C15orf39_uc002azr.3_5'Flank	p.P461P	NM_015492	NP_056307	Q6ZRI6	CO039_HUMAN			2	1703	+			461					B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Silent	SNP	ENST00000360639.2	37	c.1383C>T	CCDS10276.1																																																																																				0.652	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1	NM_015492		14	32	0	0	0	0.007413	0	14	32				
CSPG4	1464	broad.mit.edu	37	15	75981130	75981130	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:75981130A>G	ENST00000308508.5	-	3	2368	c.2276T>C	c.(2275-2277)cTg>cCg	p.L759P		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	759	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.|Interaction with COL6A2. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CTCCAGGGCCAGGTTCTCCAC	0.637																																							uc002baw.2		NA																	0				ovary(2)|pancreas(1)	3						c.(2275-2277)CTG>CCG		chondroitin sulfate proteoglycan 4 precursor							48.0	46.0	47.0					15																	75981130		2197	4293	6490	SO:0001583	missense	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75981130A>G	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.2276T>C	15.37:g.75981130A>G	ENSP00000312506:p.Leu759Pro						p.L759P	NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN			3	2369	-			759			CSPG 3.|Extracellular (Potential).|Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).		D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	c.2276T>C	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	10.12	1.263797	0.23136	.	.	ENSG00000173546	ENST00000308508	T	0.35789	1.29	5.3	5.3	0.74995	.	0.384489	0.21550	N	0.072745	T	0.48537	0.1505	L	0.53249	1.67	0.26032	N	0.981723	D	0.58620	0.983	P	0.54629	0.757	T	0.45991	-0.9223	10	0.62326	D	0.03	.	14.4254	0.67212	1.0:0.0:0.0:0.0	.	759	Q6UVK1	CSPG4_HUMAN	P	759	ENSP00000312506:L759P	ENSP00000312506:L759P	L	-	2	0	CSPG4	73768185	0.132000	0.22450	0.043000	0.18650	0.235000	0.25334	3.458000	0.53014	1.995000	0.58328	0.528000	0.53228	CTG		0.637	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		7	19	0	0	0	0.00308	0	7	19				
ACSBG1	23205	broad.mit.edu	37	15	78487043	78487043	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:78487043G>T	ENST00000258873.4	-	3	463	c.258C>A	c.(256-258)gcC>gcA	p.A86A	ACSBG1_ENST00000541759.1_Intron|ACSBG1_ENST00000560817.1_Intron|ACSBG1_ENST00000558828.1_5'UTR	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	86					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CCCGCCCATCGGCCCGAGTCG	0.642																																							uc002bdh.2		NA																	0				ovary(1)	1						c.(256-258)GCC>GCA		lipidosin							70.0	68.0	68.0					15																	78487043		2196	4293	6489	SO:0001819	synonymous_variant	23205				long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity	g.chr15:78487043G>T	AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"""Acyl-CoA synthetase family"""	29567	protein-coding gene	gene with protein product	"""bubblegum"", ""very long-chain acyl-CoA synthetase"", ""lipidosin"""	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.258C>A	15.37:g.78487043G>T						ACSBG1_uc010umw.1_Silent_p.A86A|ACSBG1_uc010umx.1_Intron|ACSBG1_uc010umy.1_5'UTR	p.A86A	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN			3	314	-			86					B2RB61|O75126|Q76N27|Q9HC26	Silent	SNP	ENST00000258873.4	37	c.258C>A	CCDS10298.1																																																																																				0.642	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	NM_015162		15	59	1	0	0.000566183	0.00499	0.000622257	15	59				
CHRNA5	1138	broad.mit.edu	37	15	78882901	78882901	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:78882901A>G	ENST00000299565.5	+	5	1368	c.1168A>G	c.(1168-1170)Aga>Gga	p.R390G	RP11-650L12.2_ENST00000567141.1_RNA|CHRNA5_ENST00000559554.1_Intron	NM_000745.3	NP_000736.2	P30532	ACHA5_HUMAN	cholinergic receptor, nicotinic, alpha 5 (neuronal)	390					behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15					Galantamine(DB00674)|Nicotine(DB00184)	AAAATCTTCTAGAAACACATT	0.418																																							uc002bdy.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1168-1170)AGA>GGA		cholinergic receptor, nicotinic, alpha 5							82.0	78.0	80.0					15																	78882901		2196	4293	6489	SO:0001583	missense	1138				behavioral response to nicotine	cell junction|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78882901A>G		CCDS10304.1	15q24	2012-02-11	2012-02-07		ENSG00000169684	ENSG00000169684		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1959	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 5 (neuronal)"""	118505	"""cholinergic receptor, nicotinic, alpha polypeptide 5"""			2004777	Standard	NM_000745		Approved		uc002bdy.3	P30532	OTTHUMG00000143858	ENST00000299565.5:c.1168A>G	15.37:g.78882901A>G	ENSP00000299565:p.Arg390Gly					CHRNA5_uc002bdz.2_Intron	p.R390G	NM_000745	NP_000736	P30532	ACHA5_HUMAN			5	1330	+			390			Cytoplasmic (Potential).		Q15824|Q99554	Missense_Mutation	SNP	ENST00000299565.5	37	c.1168A>G	CCDS10304.1	.	.	.	.	.	.	.	.	.	.	A	14.13	2.442290	0.43326	.	.	ENSG00000169684	ENST00000299565	D	0.85484	-1.99	4.79	-1.13	0.09775	Neurotransmitter-gated ion-channel transmembrane domain (2);	1.992930	0.02400	N	0.080511	T	0.79511	0.4458	L	0.39898	1.24	0.27863	N	0.940338	B	0.32753	0.383	B	0.34590	0.186	T	0.63523	-0.6618	10	0.20519	T	0.43	.	8.265	0.31808	0.5378:0.39:0.0722:0.0	.	390	P30532	ACHA5_HUMAN	G	390	ENSP00000299565:R390G	ENSP00000299565:R390G	R	+	1	2	CHRNA5	76669956	0.963000	0.33076	0.003000	0.11579	0.401000	0.30781	2.400000	0.44504	-0.035000	0.13691	0.456000	0.33151	AGA		0.418	CHRNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290106.1			14	25	0	0	0	0.004007	0	14	25				
IL16	3603	broad.mit.edu	37	15	81592569	81592569	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:81592569C>T	ENST00000302987.4	+	13	2902	c.2902C>T	c.(2902-2904)Ccc>Tcc	p.P968S	IL16_ENST00000394652.2_Missense_Mutation_p.P267S|IL16_ENST00000394660.2_Missense_Mutation_p.P968S|RP11-761I4.4_ENST00000607019.1_RNA			Q14005	IL16_HUMAN	interleukin 16	968					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						ACGGAGCTTCCCCCTGACCAG	0.572																																							uc002bgh.3		NA																	0				ovary(2)|lung(1)|skin(1)	4						c.(2902-2904)CCC>TCC		interleukin 16 isoform 2							71.0	63.0	66.0					15																	81592569		2203	4300	6503	SO:0001583	missense	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81592569C>T	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.2902C>T	15.37:g.81592569C>T	ENSP00000302935:p.Pro968Ser					IL16_uc010blq.1_Missense_Mutation_p.P922S|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.P1010S|IL16_uc002bgg.2_Missense_Mutation_p.P968S|IL16_uc002bgi.1_Missense_Mutation_p.P358S|IL16_uc002bgj.2_Missense_Mutation_p.P462S|IL16_uc002bgk.2_Missense_Mutation_p.P267S|IL16_uc002bgl.1_Missense_Mutation_p.P267S|IL16_uc010unq.1_Missense_Mutation_p.P267S	p.P968S	NM_172217	NP_757366	Q14005	IL16_HUMAN			14	3278	+			968					A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	c.2902C>T	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.610414	0.87258	.	.	ENSG00000172349	ENST00000394660;ENST00000355368;ENST00000302987;ENST00000329842;ENST00000394653;ENST00000394652;ENST00000394656	T;T;T	0.15834	2.39;2.39;3.0	5.0	5.0	0.66597	.	0.000000	0.46442	D	0.000290	T	0.44767	0.1309	M	0.74258	2.255	0.58432	D	0.99999	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.998;0.998	D;D;D;D;D;D	0.91635	0.999;0.991;0.984;0.996;0.964;0.98	T	0.46610	-0.9179	10	0.72032	D	0.01	.	18.2994	0.90158	0.0:1.0:0.0:0.0	.	800;461;505;358;968;968	F8W7Z5;Q6ZTT5;B7Z8M3;B3KY62;Q14005;Q14005-2	.;.;.;.;IL16_HUMAN;.	S	968;800;968;505;358;267;267	ENSP00000378155:P968S;ENSP00000302935:P968S;ENSP00000378147:P267S	ENSP00000302935:P968S	P	+	1	0	IL16	79379624	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	5.662000	0.68032	2.318000	0.78349	0.655000	0.94253	CCC		0.572	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		5	22	0	0	0	0.000602	0	5	22				
ADAMTSL3	57188	broad.mit.edu	37	15	84561559	84561559	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:84561559C>A	ENST00000286744.5	+	13	1610	c.1386C>A	c.(1384-1386)tgC>tgA	p.C462*	ADAMTSL3_ENST00000567476.1_Nonsense_Mutation_p.C462*	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	462	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			AATGGAAGTGCATGTACGCAC	0.473																																							uc002bjz.3		NA																	0				ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27						c.(1384-1386)TGC>TGA		ADAMTS-like 3 precursor							200.0	175.0	184.0					15																	84561559		2203	4300	6503	SO:0001587	stop_gained	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84561559C>A	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.1386C>A	15.37:g.84561559C>A	ENSP00000286744:p.Cys462*					ADAMTSL3_uc010bmt.1_Nonsense_Mutation_p.C462*|ADAMTSL3_uc010bmu.1_Nonsense_Mutation_p.C462*	p.C462*	NM_207517	NP_997400	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		13	1610	+			462			TSP type-1 2.		A1A566|A1A567|Q9ULI7	Nonsense_Mutation	SNP	ENST00000286744.5	37	c.1386C>A	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	C	40	8.061883	0.98635	.	.	ENSG00000156218	ENST00000286744	.	.	.	5.27	3.39	0.38822	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.575	0.50856	0.0:0.8556:0.0:0.1444	.	.	.	.	X	462	.	ENSP00000286744:C462X	C	+	3	2	ADAMTSL3	82352563	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.530000	0.36007	0.611000	0.30052	0.655000	0.94253	TGC		0.473	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		8	21	1	0	1.58986e-06	0.008291	1.94739e-06	8	21				
ANPEP	290	broad.mit.edu	37	15	90335755	90335755	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:90335755T>C	ENST00000300060.6	-	17	2601	c.2288A>G	c.(2287-2289)aAc>aGc	p.N763S		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	763	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	TGGAACTCCGTTGGAGCAGGC	0.577																																					NSCLC(30;827 977 2459 19669 26125)	NSCLC(30;827 977 2459 19669 26125)	uc002bop.3		NA																	0				ovary(3)|skin(1)	4						c.(2287-2289)AAC>AGC		membrane alanine aminopeptidase precursor	Ezetimibe(DB00973)						131.0	111.0	118.0					15																	90335755		2200	4299	6499	SO:0001583	missense	290				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	g.chr15:90335755T>C	M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"""CD molecules"""	500	protein-coding gene	gene with protein product	"""aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase"""	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.2288A>G	15.37:g.90335755T>C	ENSP00000300060:p.Asn763Ser						p.N763S	NM_001150	NP_001141	P15144	AMPN_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		17	2580	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		763			Extracellular.|Metalloprotease.		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP	ENST00000300060.6	37	c.2288A>G	CCDS10356.1	.	.	.	.	.	.	.	.	.	.	T	5.876	0.345751	0.11126	.	.	ENSG00000166825	ENST00000300060	T	0.01215	5.16	4.58	0.935	0.19483	.	0.551623	0.19192	N	0.120409	T	0.00967	0.0032	L	0.28115	0.83	0.09310	N	1	B	0.17038	0.02	B	0.21360	0.034	T	0.48468	-0.9033	10	0.24483	T	0.36	.	7.131	0.25502	0.0:0.2998:0.0:0.7002	.	763	P15144	AMPN_HUMAN	S	763	ENSP00000300060:N763S	ENSP00000300060:N763S	N	-	2	0	ANPEP	88136759	0.000000	0.05858	0.017000	0.16124	0.033000	0.12548	0.132000	0.15891	-0.086000	0.12550	-0.388000	0.06559	AAC		0.577	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			5	54	0	0	0	0.000602	0	5	54				
SV2B	9899	broad.mit.edu	37	15	91769718	91769719	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr15:91769718_91769719GG>TT	ENST00000394232.1	+	2	695_696	c.225_226GG>TT	c.(223-228)cgGGgc>cgTTgc	p.G76C	SV2B_ENST00000330276.4_Missense_Mutation_p.G76C|SV2B_ENST00000557291.1_Intron|SV2B_ENST00000545111.2_Intron	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	76					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			ACAGCCTTCGGGGCCAGACAGA	0.584																																							uc002bqv.2		NA																	0				ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(223-228)CGGGGC>CGTTGC		synaptic vesicle protein 2B homolog																																				SO:0001583	missense	9899				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr15:91769718_91769719GG>TT	AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	Exception_encountered	15.37:g.91769718_91769719delinsTT	ENSP00000377779:p.Gly76Cys					SV2B_uc002bqt.2_Missense_Mutation_p.G76C|SV2B_uc010uqv.1_Intron|SV2B_uc002bqu.3_RNA	p.G76C	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0895)		1	616_617	+	Lung NSC(78;0.0987)|all_lung(78;0.172)		76			Cytoplasmic (Potential).		B4DH30|C6G489|O94840|Q6IAR8	Missense_Mutation	DNP	ENST00000394232.1	37	c.225_226GG>TT	CCDS10370.1																																																																																				0.584	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3	NM_014848		7	17	0	0	0	0.004672	0	7	17				
TPSD1	23430	broad.mit.edu	37	16	1306591	1306591	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:1306591G>T	ENST00000211076.3	+	2	305	c.157G>T	c.(157-159)Gtg>Ttg	p.V53L	RP11-616M22.5_ENST00000566997.1_RNA|TPSD1_ENST00000397534.2_Missense_Mutation_p.V46L	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	53	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				GCCCTGGCAGGTGAGCCTGAG	0.692																																							uc002clb.1		NA																	0					0						c.(157-159)GTG>TTG		tryptase delta 1 precursor							57.0	69.0	65.0					16																	1306591		2199	4300	6499	SO:0001583	missense	23430				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:1306591G>T	AF206664	CCDS10432.1	16p13.3	2008-07-29			ENSG00000095917	ENSG00000095917	3.4.21.59		14118	protein-coding gene	gene with protein product	"""mMCP-7-like II"", ""mMCP-7-like I"", ""MMCP-7-LIKE-2"""	609272				9920877	Standard	NM_012217		Approved		uc002clb.1	Q9BZJ3	OTTHUMG00000128511	ENST00000211076.3:c.157G>T	16.37:g.1306591G>T	ENSP00000211076:p.Val53Leu					TPSD1_uc010brm.1_5'UTR	p.V53L	NM_012217	NP_036349	Q9BZJ3	TRYD_HUMAN			2	166	+		Hepatocellular(780;0.00369)	53			Peptidase S1.		O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	Missense_Mutation	SNP	ENST00000211076.3	37	c.157G>T	CCDS10432.1	.	.	.	.	.	.	.	.	.	.	-	15.49	2.850007	0.51270	.	.	ENSG00000095917	ENST00000397534;ENST00000211076	D;D	0.86865	-2.18;-2.18	3.0	3.0	0.34707	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.43416	D	0.000568	D	0.92577	0.7642	M	0.84326	2.69	0.50813	D	0.999896	D	0.64830	0.994	D	0.71184	0.972	D	0.93238	0.6623	10	0.87932	D	0	.	11.7565	0.51878	0.0:0.0:1.0:0.0	.	53	Q9BZJ3	TRYD_HUMAN	L	46;53	ENSP00000380668:V46L;ENSP00000211076:V53L	ENSP00000211076:V53L	V	+	1	0	TPSD1	1246592	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	3.053000	0.49901	1.642000	0.50584	0.185000	0.17295	GTG		0.692	TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250320.2			24	56	1	0	6.12954e-19	0.004656	1.00492e-18	24	56				
HAGH	3029	broad.mit.edu	37	16	1872979	1872979	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:1872979C>A	ENST00000397356.3	-	2	542	c.136G>T	c.(136-138)Gag>Tag	p.E46*	HAGH_ENST00000397353.2_5'UTR|HAGH_ENST00000455446.2_Nonsense_Mutation_p.E46*|HAGH_ENST00000566709.1_5'UTR	NM_005326.4	NP_005317.2	Q16775	GLO2_HUMAN	hydroxyacylglutathione hydrolase	46					glutathione biosynthetic process (GO:0006750)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacylglutathione hydrolase activity (GO:0004416)|zinc ion binding (GO:0008270)			kidney(2)|lung(1)|ovary(1)|skin(1)	5		Hepatocellular(780;0.00335)			Glutathione(DB00143)	ATGGTGCCCTCGTCCACGGTC	0.587																																					Pancreas(55;1048 1176 25227 40124 41333)	Pancreas(55;1048 1176 25227 40124 41333)	uc002cna.2		NA																	0				ovary(1)	1						c.(136-138)GAG>TAG		hydroxyacylglutathione hydrolase isoform 1	Glutathione(DB00143)						161.0	145.0	151.0					16																	1872979		2199	4300	6499	SO:0001587	stop_gained	3029				glutathione biosynthetic process	cytoplasm|mitochondrial matrix|mitochondrial matrix	hydroxyacylglutathione hydrolase activity|zinc ion binding	g.chr16:1872979C>A	X90999	CCDS32366.1, CCDS10447.2, CCDS66900.1	16p13.3	2012-10-02	2003-11-04		ENSG00000063854	ENSG00000063854	3.1.2.6		4805	protein-coding gene	gene with protein product		138760	"""hydroxyacyl glutathione hydrolase"""			3025077, 7327557	Standard	NM_001286249		Approved	GLO2, GLXII, HAGH1	uc002cna.3	Q16775	OTTHUMG00000128662	ENST00000397356.3:c.136G>T	16.37:g.1872979C>A	ENSP00000380514:p.Glu46*					HAGH_uc002cmz.2_5'UTR|HAGH_uc010uvp.1_Nonsense_Mutation_p.E46*|HAGH_uc002cnb.1_5'UTR|HAGH_uc010bry.1_Nonsense_Mutation_p.E46*	p.E46*	NM_005326	NP_005317	Q16775	GLO2_HUMAN			2	543	-		Hepatocellular(780;0.00335)	46					A8K290|B4DP33|B4DRA7|E7EN93	Nonsense_Mutation	SNP	ENST00000397356.3	37	c.136G>T	CCDS10447.2	.	.	.	.	.	.	.	.	.	.	C	38	6.928823	0.97940	.	.	ENSG00000063854	ENST00000455446;ENST00000397356	.	.	.	5.45	3.47	0.39725	.	0.307287	0.30126	U	0.010342	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-2.265	13.8939	0.63757	0.0:0.305:0.695:0.0	.	.	.	.	X	46	.	ENSP00000380514:E46X	E	-	1	0	HAGH	1812980	1.000000	0.71417	0.216000	0.23742	0.545000	0.35147	3.042000	0.49815	0.783000	0.33636	-0.171000	0.13296	GAG		0.587	HAGH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250548.2	NM_005326		36	94	1	0	7.91308e-09	0.006999	1.04873e-08	36	94				
RPL3L	6123	broad.mit.edu	37	16	1995919	1995919	+	Missense_Mutation	SNP	G	G	T	rs143428526	byFrequency	TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:1995919G>T	ENST00000268661.7	-	8	1058	c.964C>A	c.(964-966)Cac>Aac	p.H322N	MSRB1_ENST00000361871.3_5'Flank|MSRB1_ENST00000399753.2_5'Flank|MSRB1_ENST00000564908.1_5'Flank	NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	322					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|ribosome (GO:0005840)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						TCCCCGTAGTGGGGGAAGCCA	0.597																																							uc002cnh.2		NA																	0					0						c.(964-966)CAC>AAC		ribosomal protein L3-like							105.0	92.0	96.0					16																	1995919		2199	4300	6499	SO:0001583	missense	6123				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome	g.chr16:1995919G>T	U65581	CCDS10450.1	16p13.3	2008-02-05			ENSG00000140986	ENSG00000140986		"""L ribosomal proteins"""	10351	protein-coding gene	gene with protein product						8921388	Standard	NM_005061		Approved		uc002cnh.3	Q92901	OTTHUMG00000128685	ENST00000268661.7:c.964C>A	16.37:g.1995919G>T	ENSP00000268661:p.His322Asn					SEPX1_uc010uvs.1_5'Flank	p.H322N	NM_005061	NP_005052	Q92901	RL3L_HUMAN			8	1011	-			322						Missense_Mutation	SNP	ENST00000268661.7	37	c.964C>A	CCDS10450.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.831192	0.32329	.	.	ENSG00000140986	ENST00000268661	T	0.22945	1.93	4.25	4.25	0.50352	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	T	0.39436	0.1078	M	0.75447	2.3	0.80722	D	1	P	0.36144	0.539	B	0.43950	0.437	T	0.41161	-0.9524	10	0.54805	T	0.06	-33.4833	15.7553	0.78018	0.0:0.0:1.0:0.0	.	322	Q92901	RL3L_HUMAN	N	322	ENSP00000268661:H322N	ENSP00000268661:H322N	H	-	1	0	RPL3L	1935920	1.000000	0.71417	0.991000	0.47740	0.008000	0.06430	9.314000	0.96306	2.339000	0.79563	0.563000	0.77884	CAC		0.597	RPL3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250582.2	NM_005061		19	63	1	0	1.22574e-08	0.002299	1.61871e-08	19	63				
TSC2	7249	broad.mit.edu	37	16	2115637	2115637	+	Splice_Site	SNP	G	G	T	rs45517190		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:2115637G>T	ENST00000219476.3	+	16	2346		c.e16+1		TSC2_ENST00000382538.6_Splice_Site|TSC2_ENST00000401874.2_Splice_Site|TSC2_ENST00000568454.1_Splice_Site|TSC2_ENST00000353929.4_Splice_Site|TSC2_ENST00000350773.4_Splice_Site|TSC2_ENST00000439673.2_Splice_Site	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2						acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CATCCTTCAGGTGGGTGTTCT	0.642			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																														uc002con.2		NA	yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	D|Mis|N|F|S	tuberous sclerosis 2 gene			"""E, O"""		hamartoma|renal cell			0				central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1)	10						c.e16+1		tuberous sclerosis 2 isoform 1							80.0	80.0	80.0					16																	2115637		2198	4300	6498	SO:0001630	splice_region_variant	7249	Tuberous_Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2115637G>T	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.1716+1G>T	16.37:g.2115637G>T						TSC2_uc010bsd.2_Splice_Site_p.Q572_splice|TSC2_uc002coo.2_Splice_Site_p.Q572_splice|TSC2_uc010uvv.1_Splice_Site_p.Q535_splice|TSC2_uc010uvw.1_Splice_Site_p.Q523_splice|TSC2_uc002cop.2_Splice_Site_p.Q372_splice	p.Q572_splice	NM_000548	NP_000539	P49815	TSC2_HUMAN			16	1822	+		Hepatocellular(780;0.0202)						A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Splice_Site	SNP	ENST00000219476.3	37	c.1716_splice	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.136941	0.56936	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.944	0.92615	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TSC2	2055638	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	8.520000	0.90566	2.466000	0.83321	0.561000	0.74099	.		0.642	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548	Intron	18	52	1	0	1.10513e-12	0.002299	1.63842e-12	18	52				
C16orf90	646174	broad.mit.edu	37	16	3544669	3544669	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:3544669G>T	ENST00000437192.3	-	2	257	c.255C>A	c.(253-255)ggC>ggA	p.G85G	LA16c-306E5.3_ENST00000574423.2_RNA	NM_001080524.1	NP_001073993.1	A8MZG2	CP090_HUMAN	chromosome 16 open reading frame 90	75										large_intestine(1)	1						CCATAAGCCGGCCCAGCCAGT	0.692																																							uc002cvi.2		NA																	0					0						c.(253-255)GGC>GGA		hypothetical protein LOC646174							10.0	13.0	12.0					16																	3544669		1769	3965	5734	SO:0001819	synonymous_variant	646174							g.chr16:3544669G>T		CCDS45397.1	16p13.3	2009-01-29			ENSG00000215131	ENSG00000215131			34455	protein-coding gene	gene with protein product							Standard	NM_001080524		Approved	LOC646174	uc002cvi.3	A8MZG2	OTTHUMG00000154627	ENST00000437192.3:c.255C>A	16.37:g.3544669G>T							p.G85G	NM_001080524	NP_001073993	A8MZG2	CP090_HUMAN			2	255	-			75						Silent	SNP	ENST00000437192.3	37	c.255C>A	CCDS45397.1	.	.	.	.	.	.	.	.	.	.	G	4.431	0.079752	0.08533	.	.	ENSG00000215131	ENST00000399645	.	.	.	5.7	2.49	0.30216	.	.	.	.	.	T	0.52451	0.1735	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43261	-0.9402	4	.	.	.	-4.9686	5.3969	0.16275	0.0867:0.1735:0.6137:0.1261	.	.	.	.	T	94	.	.	P	-	1	0	C16orf90	3484670	0.052000	0.20516	0.998000	0.56505	0.744000	0.42396	0.162000	0.16501	0.726000	0.32339	0.591000	0.81541	CCG		0.692	C16orf90-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346319.2	NM_001080524		6	13	1	0	0.00307968	0.00308	0.00328514	6	13				
UBN1	29855	broad.mit.edu	37	16	4924688	4924688	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:4924688C>T	ENST00000396658.4	+	14	2980	c.2277C>T	c.(2275-2277)ggC>ggT	p.G759G	UBN1_ENST00000262376.6_Silent_p.G759G|UBN1_ENST00000545171.1_Silent_p.G759G|UBN1_ENST00000590769.1_Silent_p.G759G	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	759					chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						AGAGTTCTGGCTACAAAGAGC	0.562																																							uc002cyb.2		NA																	0				skin(2)	2						c.(2275-2277)GGC>GGT		ubinuclein 1							62.0	69.0	67.0					16																	4924688		2197	4300	6497	SO:0001819	synonymous_variant	29855				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:4924688C>T	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.2277C>T	16.37:g.4924688C>T						UBN1_uc010uxw.1_Silent_p.G759G|UBN1_uc002cyc.2_Silent_p.G759G	p.G759G	NM_001079514	NP_001072982	Q9NPG3	UBN1_HUMAN			15	2616	+			759					B7Z6D3|D3DUE8|Q13079|Q9P1P7	Silent	SNP	ENST00000396658.4	37	c.2277C>T	CCDS10525.1																																																																																				0.562	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		16	37	0	0	0	0.00499	0	16	37				
C16orf45	89927	broad.mit.edu	37	16	15677094	15677094	+	Splice_Site	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:15677094C>A	ENST00000300006.4	+	5	860	c.501C>A	c.(499-501)gcC>gcA	p.A167A	C16orf45_ENST00000565913.1_3'UTR|C16orf45_ENST00000561692.1_Splice_Site_p.A119A|C16orf45_ENST00000452191.2_Splice_Site_p.A150A|C16orf45_ENST00000566490.1_Intron	NM_033201.2	NP_149978.1	Q96MC5	CP045_HUMAN	chromosome 16 open reading frame 45	167										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						AATCTCCAGCCAGTGAGTATA	0.433																																							uc002ddo.2		NA																	0				ovary(1)	1						c.(499-501)GCC>GCA		hypothetical protein LOC89927 isoform 1							106.0	107.0	107.0					16																	15677094		2197	4300	6497	SO:0001630	splice_region_variant	89927							g.chr16:15677094C>A	AK057180	CCDS10561.1, CCDS45422.1	16p13.2	2012-10-09			ENSG00000166780	ENSG00000166780			19213	protein-coding gene	gene with protein product							Standard	NM_033201		Approved	FLJ32618	uc002ddo.3	Q96MC5	OTTHUMG00000129883	ENST00000300006.4:c.502+1C>A	16.37:g.15677094C>A						C16orf45_uc002ddp.2_Silent_p.A150A	p.A167A	NM_033201	NP_149978	Q96MC5	CP045_HUMAN			5	687	+			167					O00223|O75769|Q8IZ36|Q96H25	Silent	SNP	ENST00000300006.4	37	c.501C>A	CCDS10561.1																																																																																				0.433	C16orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252130.2	NM_033201	Silent	22	66	1	0	3.5997e-14	0.002299	5.46757e-14	22	66				
MYH11	4629	broad.mit.edu	37	16	15851831	15851831	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:15851831G>T	ENST00000300036.5	-	13	1537	c.1428C>A	c.(1426-1428)atC>atA	p.I476I	MYH11_ENST00000396324.3_Silent_p.I483I|MYH11_ENST00000576790.2_Silent_p.I476I|MYH11_ENST00000452625.2_Silent_p.I483I	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	476	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TGGTGTAGTTGATGCACAGCT	0.567			T	CBFB	AML																																		uc002ddy.2		NA		Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		0				ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						c.(1426-1428)ATC>ATA		smooth muscle myosin heavy chain 11 isoform							187.0	151.0	163.0					16																	15851831		2197	4300	6497	SO:0001819	synonymous_variant	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15851831G>T	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.1428C>A	16.37:g.15851831G>T						MYH11_uc002ddv.2_Silent_p.I483I|MYH11_uc002ddw.2_Silent_p.I476I|MYH11_uc002ddx.2_Silent_p.I483I|MYH11_uc010bvg.2_Silent_p.I308I|MYH11_uc002dea.1_Silent_p.I182I	p.I476I	NM_002474	NP_002465	P35749	MYH11_HUMAN			13	1535	-			476			Myosin head-like.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Silent	SNP	ENST00000300036.5	37	c.1428C>A	CCDS10565.1																																																																																				0.567	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		26	72	1	0	1.56442e-22	0.002445	2.66776e-22	26	72				
TMC5	79838	broad.mit.edu	37	16	19485485	19485485	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:19485485A>T	ENST00000396229.2	+	12	2726	c.1977A>T	c.(1975-1977)ttA>ttT	p.L659F	TMC5_ENST00000564959.1_Missense_Mutation_p.L342F|TMC5_ENST00000542583.2_Missense_Mutation_p.L659F|TMC5_ENST00000561503.1_Missense_Mutation_p.L300F|TMC5_ENST00000219821.5_Missense_Mutation_p.L413F|TMC5_ENST00000381414.4_Missense_Mutation_p.L659F|TMC5_ENST00000541464.1_Missense_Mutation_p.L607F|CTA-363E6.6_ENST00000561762.1_RNA	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	659					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CGGTGCTGTTACTGCCTTTCG	0.552																																							uc002dgc.3		NA																	0				skin(1)	1						c.(1975-1977)TTA>TTT		transmembrane channel-like 5 isoform a							307.0	245.0	266.0					16																	19485485		2197	4300	6497	SO:0001583	missense	79838					integral to membrane		g.chr16:19485485A>T	AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.1977A>T	16.37:g.19485485A>T	ENSP00000379531:p.Leu659Phe					TMC5_uc010vaq.1_Missense_Mutation_p.L607F|TMC5_uc002dgb.3_Missense_Mutation_p.L659F|TMC5_uc010var.1_Missense_Mutation_p.L659F|TMC5_uc002dgd.1_Missense_Mutation_p.L413F|TMC5_uc002dge.3_Missense_Mutation_p.L413F|TMC5_uc002dgf.3_Missense_Mutation_p.L342F|TMC5_uc002dgg.3_Missense_Mutation_p.L300F	p.L659F	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN			12	2726	+			659			Helical; (Potential).		Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Missense_Mutation	SNP	ENST00000396229.2	37	c.1977A>T	CCDS45431.1	.	.	.	.	.	.	.	.	.	.	A	17.33	3.363433	0.61513	.	.	ENSG00000103534	ENST00000541464;ENST00000381414;ENST00000396229;ENST00000542583;ENST00000219821;ENST00000440743	T;T;T;T;T	0.69926	-0.44;0.83;0.83;0.83;0.83	4.72	-5.55	0.02536	.	0.079532	0.50627	D	0.000105	T	0.73916	0.3648	M	0.78049	2.395	0.25905	N	0.983302	D;B;D;D;D;D	0.89917	1.0;0.431;1.0;0.999;1.0;1.0	D;B;D;D;D;D	0.80764	0.994;0.179;0.989;0.974;0.987;0.994	T	0.68849	-0.5300	10	0.14656	T	0.56	-7.8255	12.9949	0.58640	0.1443:0.1317:0.724:0.0	.	607;342;413;413;659;659	F5GYU8;E7EU57;Q6UXY8-3;B3KUQ8;Q6UXY8;Q6UXY8-2	.;.;.;.;TMC5_HUMAN;.	F	607;659;659;659;413;342	ENSP00000441227:L607F;ENSP00000370822:L659F;ENSP00000379531:L659F;ENSP00000446274:L659F;ENSP00000219821:L413F	ENSP00000219821:L413F	L	+	3	2	TMC5	19392986	0.168000	0.22989	0.121000	0.21740	0.856000	0.48823	-0.577000	0.05847	-1.018000	0.03363	-0.379000	0.06801	TTA		0.552	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780		53	134	0	0	0	0.00361	0	53	134				
GP2	2813	broad.mit.edu	37	16	20335338	20335338	+	Missense_Mutation	SNP	C	C	A	rs200111828		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:20335338C>A	ENST00000381362.4	-	3	411	c.335G>T	c.(334-336)cGa>cTa	p.R112L	GP2_ENST00000573897.1_5'Flank|GP2_ENST00000302555.5_Missense_Mutation_p.R112L|GP2_ENST00000381360.5_Intron|GP2_ENST00000341642.5_Intron	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	112					antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TGTCTGGCATCGGTGCACCTG	0.597																																							uc002dgv.2		NA																	0				ovary(3)|skin(1)	4						c.(334-336)CGA>CTA		zymogen granule membrane glycoprotein 2 isoform							102.0	80.0	87.0					16																	20335338		2203	4300	6503	SO:0001583	missense	2813					anchored to membrane|extracellular region|plasma membrane		g.chr16:20335338C>A	U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.335G>T	16.37:g.20335338C>A	ENSP00000370767:p.Arg112Leu					GP2_uc002dgw.2_Missense_Mutation_p.R112L|GP2_uc002dgx.2_Intron|GP2_uc002dgy.2_Intron	p.R112L	NM_001007240	NP_001007241	P55259	GP2_HUMAN			3	418	-			112					A6NFM9|A6NJA8|Q13338|Q9UIF1	Missense_Mutation	SNP	ENST00000381362.4	37	c.335G>T	CCDS42128.1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.620830	0.46736	.	.	ENSG00000169347	ENST00000302555;ENST00000381362	D;D	0.99619	-6.28;-6.28	5.02	3.07	0.35406	.	.	.	.	.	D	0.99450	0.9805	M	0.86028	2.79	0.19775	N	0.999954	D;D	0.61080	0.984;0.989	P;P	0.59948	0.69;0.866	D	0.98072	1.0399	9	0.72032	D	0.01	-8.13	9.4959	0.38989	0.0:0.8278:0.0:0.1722	.	112;112	P55259-3;P55259	.;GP2_HUMAN	L	112	ENSP00000304044:R112L;ENSP00000370767:R112L	ENSP00000304044:R112L	R	-	2	0	GP2	20242839	0.000000	0.05858	0.030000	0.17652	0.197000	0.23852	0.179000	0.16840	0.697000	0.31718	0.650000	0.86243	CGA		0.597	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295		23	58	1	0	7.92952e-12	0.003954	1.14812e-11	23	58				
PDILT	204474	broad.mit.edu	37	16	20373839	20373839	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:20373839G>T	ENST00000302451.4	-	10	1551	c.1303C>A	c.(1303-1305)Caa>Aaa	p.Q435K		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	435	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						GAGTGGTTTTGATATTTTCTG	0.478																																							uc002dhc.1		NA																	0				large_intestine(1)	1						c.(1303-1305)CAA>AAA		protein disulfide isomerase-like, testis							274.0	200.0	225.0					16																	20373839		2203	4300	6503	SO:0001583	missense	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20373839G>T		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1303C>A	16.37:g.20373839G>T	ENSP00000305465:p.Gln435Lys						p.Q435K	NM_174924	NP_777584	Q8N807	PDILT_HUMAN			10	1526	-			435			Thioredoxin.		Q8IVQ5	Missense_Mutation	SNP	ENST00000302451.4	37	c.1303C>A	CCDS10584.1	.	.	.	.	.	.	.	.	.	.	G	0.459	-0.890146	0.02511	.	.	ENSG00000169340	ENST00000302451	T	0.10005	2.92	5.0	4.03	0.46877	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.428622	0.27393	N	0.019569	T	0.04452	0.0122	N	0.02854	-0.475	0.34515	D	0.707532	B	0.19445	0.036	B	0.27608	0.081	T	0.23190	-1.0195	10	0.02654	T	1	.	13.0558	0.58980	0.0:0.163:0.837:0.0	.	435	Q8N807	PDILT_HUMAN	K	435	ENSP00000305465:Q435K	ENSP00000305465:Q435K	Q	-	1	0	PDILT	20281340	1.000000	0.71417	1.000000	0.80357	0.077000	0.17291	1.123000	0.31308	1.302000	0.44855	0.563000	0.77884	CAA		0.478	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		17	37	1	0	3.32936e-07	0.006122	4.1603e-07	17	37				
ACSM5	54988	broad.mit.edu	37	16	20448427	20448427	+	Silent	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:20448427G>C	ENST00000331849.4	+	11	1509	c.1362G>C	c.(1360-1362)ggG>ggC	p.G454G		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	454					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						ACATCACAGGGGACCGAGCTC	0.488																																							uc002dhe.2		NA																	0				ovary(2)	2						c.(1360-1362)GGG>GGC		acyl-CoA synthetase medium-chain family member 5							162.0	151.0	155.0					16																	20448427		2203	4300	6503	SO:0001819	synonymous_variant	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20448427G>C		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"""Acyl-CoA synthetase family"""	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.1362G>C	16.37:g.20448427G>C							p.G454G	NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN			11	1509	+			454					Q96AV1|Q96CX8|Q9NWV3	Silent	SNP	ENST00000331849.4	37	c.1362G>C	CCDS10585.1																																																																																				0.488	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		19	70	0	0	0	0.001882	0	19	70				
ACSM2A	123876	broad.mit.edu	37	16	20476923	20476923	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:20476923G>A	ENST00000573854.1	+	3	376	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	ACSM2A_ENST00000417235.2_Missense_Mutation_p.E9K|ACSM2A_ENST00000424070.1_Missense_Mutation_p.E88K|ACSM2A_ENST00000219054.6_Missense_Mutation_p.E88K|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000575690.1_Missense_Mutation_p.E88K|ACSM2A_ENST00000396104.2_Missense_Mutation_p.E88K|ACSM2A_ENST00000536134.1_5'UTR	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	88					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						AGAACTGAGTGAAAACAGCCA	0.597																																							uc010bwe.2		NA																	0				skin(2)|breast(1)	3						c.(262-264)GAA>AAA		acyl-CoA synthetase medium-chain family member							105.0	97.0	100.0					16																	20476923		2203	4300	6503	SO:0001583	missense	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20476923G>A	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.262G>A	16.37:g.20476923G>A	ENSP00000459451:p.Glu88Lys					ACSM2A_uc010bwd.1_RNA|ACSM2A_uc010vax.1_Missense_Mutation_p.E9K|ACSM2A_uc002dhf.3_Missense_Mutation_p.E88K|ACSM2A_uc002dhg.3_Missense_Mutation_p.E88K|ACSM2A_uc010vay.1_Missense_Mutation_p.E9K	p.E88K	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN			4	501	+			88					B3KTT9|O75202	Missense_Mutation	SNP	ENST00000573854.1	37	c.262G>A	CCDS32401.1	.	.	.	.	.	.	.	.	.	.	G	5.069	0.198459	0.09652	.	.	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000424070;ENST00000396104	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	3.76	1.71	0.24356	AMP-dependent synthetase/ligase (1);	0.305432	0.23356	N	0.049080	T	0.28034	0.0691	L	0.33189	0.99	0.23802	N	0.996807	B;B	0.13145	0.007;0.007	B;B	0.20384	0.029;0.024	T	0.12837	-1.0532	10	0.11794	T	0.64	-14.0094	3.9972	0.09564	0.2154:0.0:0.5962:0.1884	.	9;88	B7Z8R0;Q08AH3	.;ACS2A_HUMAN	K	9;88;88;88	ENSP00000392169:E9K;ENSP00000219054:E88K;ENSP00000394904:E88K;ENSP00000379411:E88K	ENSP00000219054:E88K	E	+	1	0	ACSM2A	20384424	0.142000	0.22610	0.065000	0.19835	0.116000	0.19942	1.410000	0.34691	0.691000	0.31592	0.298000	0.19748	GAA		0.597	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		12	51	0	0	0	0.001368	0	12	51				
ACSM2A	123876	broad.mit.edu	37	16	20477017	20477017	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:20477017G>T	ENST00000573854.1	+	3	470	c.356G>T	c.(355-357)tGg>tTg	p.W119L	ACSM2A_ENST00000417235.2_Missense_Mutation_p.W40L|ACSM2A_ENST00000424070.1_Missense_Mutation_p.W119L|ACSM2A_ENST00000219054.6_Missense_Mutation_p.W119L|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000575690.1_Missense_Mutation_p.W119L|ACSM2A_ENST00000396104.2_Missense_Mutation_p.W119L|ACSM2A_ENST00000536134.1_5'UTR	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	119					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GTGCCTGAGTGGTGGCTGGTG	0.572																																							uc010bwe.2		NA																	0				skin(2)|breast(1)	3						c.(355-357)TGG>TTG		acyl-CoA synthetase medium-chain family member							84.0	71.0	75.0					16																	20477017		2203	4300	6503	SO:0001583	missense	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20477017G>T	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.356G>T	16.37:g.20477017G>T	ENSP00000459451:p.Trp119Leu					ACSM2A_uc010bwd.1_RNA|ACSM2A_uc010vax.1_Missense_Mutation_p.W40L|ACSM2A_uc002dhf.3_Missense_Mutation_p.W119L|ACSM2A_uc002dhg.3_Missense_Mutation_p.W119L|ACSM2A_uc010vay.1_Missense_Mutation_p.W40L	p.W119L	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN			4	595	+			119					B3KTT9|O75202	Missense_Mutation	SNP	ENST00000573854.1	37	c.356G>T	CCDS32401.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.157716	0.57368	.	.	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000424070;ENST00000396104	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	3.76	2.69	0.31865	AMP-dependent synthetase/ligase (1);	0.000000	0.41605	D	0.000844	T	0.40670	0.1126	N	0.17345	0.48	0.44359	D	0.997259	D;D	0.63046	0.962;0.992	P;P	0.61800	0.767;0.894	T	0.18524	-1.0334	10	0.31617	T	0.26	-9.5735	11.7616	0.51908	0.0:0.1799:0.8201:0.0	.	40;119	B7Z8R0;Q08AH3	.;ACS2A_HUMAN	L	40;119;119;119	ENSP00000392169:W40L;ENSP00000219054:W119L;ENSP00000394904:W119L;ENSP00000379411:W119L	ENSP00000219054:W119L	W	+	2	0	ACSM2A	20384518	1.000000	0.71417	1.000000	0.80357	0.425000	0.31504	5.582000	0.67477	1.809000	0.52856	0.298000	0.19748	TGG		0.572	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		10	33	1	0	1.36491e-13	0.001855	2.04599e-13	10	33				
VWA3A	146177	broad.mit.edu	37	16	22128452	22128452	+	Silent	SNP	A	A	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:22128452A>C	ENST00000389398.5	+	11	1041	c.945A>C	c.(943-945)gcA>gcC	p.A315A	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	315						extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		AGAACCTTGCAGAAGCTGTTA	0.547																																							uc010vbq.1		NA																	0				skin(1)	1						c.(943-945)GCA>GCC		von Willebrand factor A domain containing 3A							92.0	90.0	91.0					16																	22128452		1940	4150	6090	SO:0001819	synonymous_variant	146177					extracellular region		g.chr16:22128452A>C	AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.945A>C	16.37:g.22128452A>C						VWA3A_uc010bxc.2_Silent_p.A302A	p.A315A	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN		GBM - Glioblastoma multiforme(48;0.0439)	11	1041	+			315					A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Silent	SNP	ENST00000389398.5	37	c.945A>C	CCDS45441.1																																																																																				0.547	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430052.1			3	3	0	0	0	0.004672	0	3	3				
LCMT1	51451	broad.mit.edu	37	16	25143815	25143815	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:25143815G>A	ENST00000399069.3	+	3	453	c.298G>A	c.(298-300)Ggc>Agc	p.G100S	LCMT1_ENST00000380966.4_Missense_Mutation_p.G100S	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	100					C-terminal protein methylation (GO:0006481)|cellular protein modification process (GO:0006464)|negative regulation of protein complex assembly (GO:0031333)|protein methylation (GO:0006479)|regulation of apoptotic process (GO:0042981)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	cytosol (GO:0005829)	protein C-terminal carboxyl O-methyltransferase activity (GO:0003880)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	CCTTGGGGCAGGCATGGATAC	0.428																																					Colon(200;565 2072 24396 47922 50898)	Colon(200;565 2072 24396 47922 50898)	uc002dnx.1		NA																	0					0						c.(298-300)GGC>AGC		leucine carboxyl methyltransferase 1 isoform a	L-Leucine(DB00149)						109.0	106.0	107.0					16																	25143815		1931	4130	6061	SO:0001583	missense	51451						protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity	g.chr16:25143815G>A	AF037601	CCDS45445.1, CCDS45446.1	16p12.1	2014-08-01			ENSG00000205629	ENSG00000205629			17557	protein-coding gene	gene with protein product	"""protein phosphatase methyltransferase 1"""	610286				10810093	Standard	XM_005255354		Approved	CGI-68, PPMT1	uc002dnx.1	Q9UIC8	OTTHUMG00000177182	ENST00000399069.3:c.298G>A	16.37:g.25143815G>A	ENSP00000382021:p.Gly100Ser					LCMT1_uc002dny.1_Missense_Mutation_p.G100S|LCMT1_uc002dnz.1_5'UTR|LCMT1_uc002doa.1_5'UTR	p.G100S	NM_016309	NP_057393	Q9UIC8	LCMT1_HUMAN		GBM - Glioblastoma multiforme(48;0.0336)	3	456	+			100					A6NL89|A8K770|Q53FC5|Q96CI5|Q9H6I9|Q9NTG4|Q9Y378	Missense_Mutation	SNP	ENST00000399069.3	37	c.298G>A	CCDS45445.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.295191	0.60086	.	.	ENSG00000205629	ENST00000399069;ENST00000380966;ENST00000380962	D;D	0.91407	-2.84;-2.84	5.51	5.51	0.81932	.	0.057428	0.64402	D	0.000001	D	0.97087	0.9048	H	0.97077	3.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98252	1.0494	10	0.87932	D	0	-28.1515	16.9326	0.86195	0.0:0.0:1.0:0.0	.	100;100	Q9UIC8-3;Q9UIC8	.;LCMT1_HUMAN	S	100;100;117	ENSP00000382021:G100S;ENSP00000370353:G100S	ENSP00000370349:G117S	G	+	1	0	LCMT1	25051316	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.925000	0.75829	2.591000	0.87537	0.655000	0.94253	GGC		0.428	LCMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435747.4	NM_016309		7	24	0	0	0	0.00308	0	7	24				
IL21R	50615	broad.mit.edu	37	16	27455868	27455868	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:27455868G>T	ENST00000337929.3	+	6	986	c.513G>T	c.(511-513)ccG>ccT	p.P171P	IL21R_ENST00000395755.1_Silent_p.P171P|IL21R_ENST00000564583.1_3'UTR|IL21R_ENST00000395754.4_Silent_p.P171P|IL21R_ENST00000564089.1_Silent_p.P171P	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	171	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						GGCAGAGTCCGAGGAGAAAGC	0.582			T	BCL6	NHL																																		uc002doq.1		NA		Dom	yes		16	16p11	50615	T	interleukin 21 receptor			L	BCL6		NHL		0				ovary(2)|lung(1)|breast(1)	4						c.(511-513)CCG>CCT		interleukin 21 receptor precursor							76.0	65.0	69.0					16																	27455868		2197	4300	6497	SO:0001819	synonymous_variant	50615				natural killer cell activation	integral to membrane	interleukin-21 receptor activity	g.chr16:27455868G>T	AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"""Interleukins and interleukin receptors"", ""CD molecules"""	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.513G>T	16.37:g.27455868G>T						IL21R_uc002dor.1_Silent_p.P171P|IL21R_uc002dos.1_Silent_p.P171P	p.P171P	NM_181078	NP_851564	Q9HBE5	IL21R_HUMAN			6	746	+			171			Extracellular (Potential).|Fibronectin type-III.		A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Silent	SNP	ENST00000337929.3	37	c.513G>T	CCDS10630.1																																																																																				0.582	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	NM_181078		12	24	1	0	0.00185496	0.001855	0.00200605	12	24				
GSG1L	146395	broad.mit.edu	37	16	27840137	27840137	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:27840137G>T	ENST00000447459.2	-	5	887	c.803C>A	c.(802-804)cCt>cAt	p.P268H	GSG1L_ENST00000380898.2_Missense_Mutation_p.P113H|GSG1L_ENST00000395724.3_Missense_Mutation_p.P217H|GSG1L_ENST00000569166.1_Missense_Mutation_p.P113H|GSG1L_ENST00000380897.3_Missense_Mutation_p.P113H	NM_001109763.1	NP_001103233.1	Q6UXU4	GSG1L_HUMAN	GSG1-like	268					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	asymmetric synapse (GO:0032279)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						GATGGCCTCAGGGTCTATGAA	0.607																																							uc002doz.2		NA																	0				ovary(1)	1						c.(802-804)CCT>CAT		GSG1-like isoform 1							99.0	82.0	88.0					16																	27840137		2197	4300	6497	SO:0001583	missense	146395					integral to membrane		g.chr16:27840137G>T	AK128775	CCDS10631.1, CCDS45450.1	16p11.2	2014-01-20			ENSG00000169181	ENSG00000169181			28283	protein-coding gene	gene with protein product						22813734	Standard	NM_001109763		Approved	MGC18079, PRO19651, KTSR5831	uc002doz.2	Q6UXU4	OTTHUMG00000131676	ENST00000447459.2:c.803C>A	16.37:g.27840137G>T	ENSP00000394954:p.Pro268His					GSG1L_uc010bya.1_Missense_Mutation_p.P217H|GSG1L_uc010bxz.1_Missense_Mutation_p.P113H|GSG1L_uc002doy.2_Missense_Mutation_p.P113H	p.P268H	NM_001109763	NP_001103233	Q6UXU4	GSG1L_HUMAN			5	888	-			268					Q7Z6F8|Q8TB81	Missense_Mutation	SNP	ENST00000447459.2	37	c.803C>A	CCDS45450.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.511930	0.44660	.	.	ENSG00000169181	ENST00000447459;ENST00000395724;ENST00000380898;ENST00000380897	T;T	0.32515	1.46;1.45	5.24	5.24	0.73138	.	0.149703	0.44097	D	0.000485	T	0.23965	0.0580	L	0.31578	0.945	0.43559	D	0.995879	B;B;B	0.22003	0.063;0.013;0.027	B;B;B	0.17433	0.018;0.018;0.01	T	0.03231	-1.1058	10	0.44086	T	0.13	.	13.2596	0.60098	0.0:0.0:0.8405:0.1594	.	217;113;268	Q6UXU4-3;Q6UXU4-4;Q6UXU4	.;.;GSG1L_HUMAN	H	268;217;113;113	ENSP00000394954:P268H;ENSP00000379074:P217H	ENSP00000370282:P113H	P	-	2	0	GSG1L	27747638	1.000000	0.71417	0.972000	0.41901	0.992000	0.81027	3.185000	0.50934	2.455000	0.83008	0.650000	0.86243	CCT		0.607	GSG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433832.2	NM_144675		26	40	1	0	6.04164e-23	0.002096	1.03145e-22	26	40				
EIF3C	8663	broad.mit.edu	37	16	28734788	28734788	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:28734788C>G	ENST00000331666.6	+	10	1142	c.956C>G	c.(955-957)gCc>gGc	p.A319G	EIF3C_ENST00000566501.1_Missense_Mutation_p.A319G|EIF3C_ENST00000566866.1_Missense_Mutation_p.A319G|EIF3C_ENST00000564243.1_Missense_Mutation_p.A309G|EIF3C_ENST00000395587.1_Missense_Mutation_p.A319G					eukaryotic translation initiation factor 3, subunit C											lung(5)|skin(1)	6						AAAATGTTTGCCAAGGGAACT	0.493																																							uc010byj.2		NA																	0					0						c.(958-960)GCC>GGC		eukaryotic translation initiation factor 3,							262.0	323.0	302.0					16																	28734788		2193	4299	6492	SO:0001583	missense	728689					eukaryotic translation initiation factor 3 complex	translation initiation factor activity	g.chr16:28734788C>G	U46025	CCDS10638.1, CCDS66993.1	16p11.2	2008-02-05	2007-07-27	2007-07-27		ENSG00000184110			3279	protein-coding gene	gene with protein product		603916	"""eukaryotic translation initiation factor 3, subunit 8, 110kDa"""	EIF3S8		8995409	Standard	NM_001199142		Approved	eIF3-p110, eIF3c	uc002dph.4	Q99613		ENST00000331666.6:c.956C>G	16.37:g.28734788C>G	ENSP00000332604:p.Ala319Gly					uc010vct.1_Intron|EIF3CL_uc010byi.2_Missense_Mutation_p.A319G|EIF3CL_uc002dqs.3_Missense_Mutation_p.A319G|EIF3C_uc002dqt.3_Missense_Mutation_p.A319G|EIF3CL_uc010vcy.1_Missense_Mutation_p.A309G|EIF3C_uc002dqu.3_Missense_Mutation_p.A319G|EIF3CL_uc002dqv.3_Missense_Mutation_p.A65G	p.A320G	NM_001099661	NP_001093131	B5ME19	B5ME19_HUMAN			11	1048	+			320						Missense_Mutation	SNP	ENST00000331666.6	37	c.959C>G	CCDS10638.1	.	.	.	.	.	.	.	.	.	.	.	14.50	2.554869	0.45487	.	.	ENSG00000184110	ENST00000395587;ENST00000331666;ENST00000537985;ENST00000395583;ENST00000454461	.	.	.	4.27	4.27	0.50696	Eukaryotic translation initiation factor 3 subunit 8, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.68677	0.3027	L	0.49350	1.555	0.80722	D	1	B;B;D	0.65815	0.048;0.006;0.995	B;B;D	0.64506	0.048;0.039;0.926	T	0.69647	-0.5089	9	0.46703	T	0.11	.	16.0586	0.80822	0.0:1.0:0.0:0.0	.	309;105;319	B4E1D5;B3KNZ4;Q99613	.;.;EIF3C_HUMAN	G	319;319;304;167;141	.	ENSP00000332604:A319G	A	+	2	0	EIF3C	28642289	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	6.499000	0.73683	2.381000	0.81170	0.447000	0.29281	GCC		0.493	EIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216908.3	NM_003752		56	187	0	0	0	0.00361	0	56	187				
ITGAL	3683	broad.mit.edu	37	16	30505629	30505629	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:30505629A>T	ENST00000356798.6	+	12	1490	c.1310A>T	c.(1309-1311)cAa>cTa	p.Q437L	ITGAL_ENST00000358164.5_Missense_Mutation_p.Q354L|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000568012.1_3'UTR	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	437					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	CTGCTGTTCCAAGAGCCACAG	0.647																																					NSCLC(110;1462 1641 3311 33990 49495)	NSCLC(110;1462 1641 3311 33990 49495)	uc002dyi.3		NA																	0				ovary(3)|lung(3)|central_nervous_system(3)|breast(1)	10						c.(1309-1311)CAA>CTA		integrin alpha L isoform a precursor	Efalizumab(DB00095)						47.0	47.0	47.0					16																	30505629		2197	4300	6497	SO:0001583	missense	3683				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30505629A>T		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.1310A>T	16.37:g.30505629A>T	ENSP00000349252:p.Gln437Leu					ITGAL_uc002dyj.3_Missense_Mutation_p.Q354L|ITGAL_uc010vev.1_Intron	p.Q437L	NM_002209	NP_002200	P20701	ITAL_HUMAN			12	1486	+			437			FG-GAP 4.|Extracellular (Potential).		O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	ENST00000356798.6	37	c.1310A>T	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	A	15.41	2.824313	0.50739	.	.	ENSG00000005844	ENST00000356798;ENST00000358164	T;T	0.09723	2.95;2.95	5.57	3.21	0.36854	.	0.120271	0.38058	N	0.001834	T	0.08268	0.0206	L	0.37850	1.14	0.80722	D	1	B;B	0.19706	0.038;0.009	B;B	0.23275	0.045;0.009	T	0.17868	-1.0355	10	0.44086	T	0.13	.	5.3205	0.15879	0.7589:0.0:0.0851:0.1559	.	354;437	Q96HB1;P20701	.;ITAL_HUMAN	L	437;354	ENSP00000349252:Q437L;ENSP00000350886:Q354L	ENSP00000349252:Q437L	Q	+	2	0	ITGAL	30413130	0.003000	0.15002	0.827000	0.32855	0.857000	0.48899	0.284000	0.18864	0.957000	0.37930	0.460000	0.39030	CAA		0.647	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			13	30	0	0	0	0.001855	0	13	30				
SETD1A	9739	broad.mit.edu	37	16	30982946	30982946	+	Silent	SNP	G	G	C	rs370157586		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:30982946G>C	ENST00000262519.8	+	13	3950	c.3264G>C	c.(3262-3264)acG>acC	p.T1088T		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1088	Pro-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CAGTGCCCACGCCAGCACCTG	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		16640	0.0		0.0	False		,,,				2504	0.001						uc002ead.1		NA																	0				ovary(2)|skin(1)	3						c.(3262-3264)ACG>ACC		SET domain containing 1A							34.0	36.0	36.0					16																	30982946		2197	4300	6497	SO:0001819	synonymous_variant	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30982946G>C	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.3264G>C	16.37:g.30982946G>C							p.T1088T	NM_014712	NP_055527	O15047	SET1A_HUMAN			13	3950	+			1088			Pro-rich.		A6NP62|Q6PIF3|Q8TAJ6	Silent	SNP	ENST00000262519.8	37	c.3264G>C	CCDS32435.1																																																																																				0.647	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		12	55	0	0	0	0.006122	0	12	55				
SETD1A	9739	broad.mit.edu	37	16	30991034	30991034	+	Silent	SNP	G	G	T	rs532680436		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:30991034G>T	ENST00000262519.8	+	14	4613	c.3927G>T	c.(3925-3927)acG>acT	p.T1309T		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1309					histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.T1309T(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						TCAAGCCCACGCCCCCTGCGC	0.706																																							uc002ead.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(3925-3927)ACG>ACT		SET domain containing 1A							13.0	17.0	16.0					16																	30991034		2167	4254	6421	SO:0001819	synonymous_variant	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30991034G>T	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.3927G>T	16.37:g.30991034G>T							p.T1309T	NM_014712	NP_055527	O15047	SET1A_HUMAN			14	4613	+			1309					A6NP62|Q6PIF3|Q8TAJ6	Silent	SNP	ENST00000262519.8	37	c.3927G>T	CCDS32435.1																																																																																				0.706	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		10	13	1	0	3.07112e-06	0.000978	3.69777e-06	10	13				
ITGAM	3684	broad.mit.edu	37	16	31309101	31309101	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:31309101G>T	ENST00000287497.8	+	14	1608	c.1533G>T	c.(1531-1533)ggG>ggT	p.G511G	ITGAM_ENST00000544665.3_Silent_p.G512G			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	511					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						TTCTCTACGGGGAGCAGGGCC	0.652																																							uc002ebq.2		NA																	0				kidney(1)	1						c.(1531-1533)GGG>GGT		integrin alpha M isoform 2 precursor							59.0	65.0	63.0					16																	31309101		2176	4288	6464	SO:0001819	synonymous_variant	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31309101G>T	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.1533G>T	16.37:g.31309101G>T						ITGAM_uc002ebr.2_Silent_p.G512G|ITGAM_uc010cam.1_Intron|ITGAM_uc010can.2_Intron	p.G511G	NM_000632	NP_000623	P11215	ITAM_HUMAN			14	1631	+			511			FG-GAP 6.|Extracellular (Potential).		Q4VAK0|Q4VAK1|Q4VAK2	Silent	SNP	ENST00000287497.8	37	c.1533G>T	CCDS45470.1																																																																																				0.652	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		20	46	1	0	1.55795e-14	0.001882	2.38095e-14	20	46				
ZNF720	124411	broad.mit.edu	37	16	31734648	31734648	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:31734648G>T	ENST00000316491.9	+	3	399	c.200G>T	c.(199-201)aGt>aTt	p.S67I	ZNF720_ENST00000531864.2_Intron|ZNF720_ENST00000399681.3_5'UTR|ZNF720_ENST00000534369.1_Intron|ZNF720_ENST00000398696.3_Intron|ZNF720_ENST00000539915.1_Intron	NM_001130913.1	NP_001124385.1	Q7Z2F6	ZN720_HUMAN	zinc finger protein 720	67	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			endometrium(1)|kidney(1)|lung(1)|stomach(1)	4						AATGTGAAGAGTGCAGAGACA	0.473																																							uc002ecn.3		NA																	0					0						c.(199-201)AGT>ATT		zinc finger protein 720							78.0	76.0	77.0					16																	31734648		692	1591	2283	SO:0001583	missense	124411				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding	g.chr16:31734648G>T	AK128671	CCDS45473.1	16p11.2	2013-01-08				ENSG00000197302		"""Zinc fingers, C2H2-type"", ""-"""	26987	protein-coding gene	gene with protein product							Standard	NM_001130913		Approved		uc002ecq.3	Q7Z2F6		ENST00000316491.9:c.200G>T	16.37:g.31734648G>T	ENSP00000319222:p.Ser67Ile					ZNF720_uc010vfs.1_5'UTR|ZNF720_uc002eco.2_Intron|ZNF720_uc002ecp.1_Intron|ZNF720_uc002ecq.2_Missense_Mutation_p.S69I	p.S67I	NM_001130913	NP_001124385	Q7Z2F6	ZN720_HUMAN			3	404	+			67			KRAB.		Q6ZQX1	Missense_Mutation	SNP	ENST00000316491.9	37	c.200G>T	CCDS45473.1	.	.	.	.	.	.	.	.	.	.	g	11.33	1.607584	0.28623	.	.	ENSG00000197302	ENST00000316491;ENST00000530881;ENST00000529515	T;T;T	0.00662	5.98;5.93;6.0	1.51	1.51	0.23008	Krueppel-associated box (1);	.	.	.	.	T	0.00784	0.0026	L	0.35288	1.05	0.20196	N	0.999924	B	0.14438	0.01	B	0.10450	0.005	T	0.44877	-0.9299	9	0.48119	T	0.1	.	6.3381	0.21306	0.0:0.0:1.0:0.0	.	67	Q7Z2F6	ZN720_HUMAN	I	67;108;67	ENSP00000319222:S67I;ENSP00000435171:S108I;ENSP00000437310:S67I	ENSP00000319222:S67I	S	+	2	0	ZNF720	31642149	0.001000	0.12720	0.039000	0.18376	0.110000	0.19582	-0.399000	0.07250	0.837000	0.34925	0.313000	0.20887	AGT		0.473	ZNF720-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394883.3	NM_001004300		10	11	1	0	7.03913e-09	0.001368	9.3457e-09	10	11				
CYLD	1540	broad.mit.edu	37	16	50830247	50830247	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:50830247G>T	ENST00000427738.3	+	18	2904	c.2699G>T	c.(2698-2700)gGc>gTc	p.G900V	RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000564326.1_Missense_Mutation_p.G897V|CYLD_ENST00000540145.1_Missense_Mutation_p.G900V|CYLD_ENST00000398568.2_Missense_Mutation_p.G897V|CYLD_ENST00000568704.2_Missense_Mutation_p.G715V|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000311559.9_Missense_Mutation_p.G900V|CYLD_ENST00000569418.1_Missense_Mutation_p.G897V			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	900	USP.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				GGTCAGAATGGCTTCAACATT	0.448			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																														uc002egp.1		NA	yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	Mis|N|F|S	familial cylindromatosis gene			E		cylindroma	cylindroma		0				skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3)	28						c.(2698-2700)GGC>GTC		ubiquitin carboxyl-terminal hydrolase CYLD							94.0	91.0	92.0					16																	50830247		1893	4136	6029	SO:0001583	missense	1540	Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr16:50830247G>T	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"""ubiquitin specific peptidase like 2"""	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.2699G>T	16.37:g.50830247G>T	ENSP00000392025:p.Gly900Val					CYLD_uc002egq.1_Missense_Mutation_p.G897V|CYLD_uc002egr.1_Missense_Mutation_p.G897V	p.G900V	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN			19	3114	+		all_cancers(37;0.0156)	900					O94934|Q7L3N6|Q96EH0|Q9NZX9	Missense_Mutation	SNP	ENST00000427738.3	37	c.2699G>T	CCDS45482.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.150206	0.78001	.	.	ENSG00000083799	ENST00000540145;ENST00000311559;ENST00000427738;ENST00000398568	T;T;T;T	0.36699	1.27;1.27;1.24;1.27	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.64627	0.2615	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67043	-0.5770	10	0.87932	D	0	-19.4358	19.8415	0.96690	0.0:0.0:1.0:0.0	.	897	Q9NQC7-2	.	V	900;900;897;897	ENSP00000445447:G900V;ENSP00000308928:G900V;ENSP00000392025:G897V;ENSP00000381574:G897V	ENSP00000308928:G900V	G	+	2	0	CYLD	49387748	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	9.461000	0.97646	2.700000	0.92200	0.655000	0.94253	GGC		0.448	CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2			5	46	1	0	4.096e-09	0.001168	5.49211e-09	5	46				
CES1	1066	broad.mit.edu	37	16	55857462	55857462	+	Splice_Site	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:55857462C>A	ENST00000361503.4	-	4	666	c.536G>T	c.(535-537)aGc>aTc	p.S179I	CES1_ENST00000422046.2_Splice_Site_p.S179I|CES1_ENST00000566555.1_5'UTR|CES1_ENST00000360526.3_Splice_Site_p.S180I			P23141	EST1_HUMAN	carboxylesterase 1	179					epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)								all cancers(182;0.13)|Epithelial(162;0.137)	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	GATTTCTTACCTGAAGAATCC	0.562																																					NSCLC(162;1801 2756 42904 52896)	NSCLC(162;1801 2756 42904 52896)	uc002eim.2		NA																	0					0						c.(535-537)AGC>ATC		carboxylesterase 1 isoform b precursor	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)						89.0	115.0	106.0					16																	55857462		2177	4298	6475	SO:0001630	splice_region_variant	1066				response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55857462C>A	BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	3.1.1.1	"""Carboxylesterases"""	1863	protein-coding gene	gene with protein product	"""human monocyte/macrophage serine esterase 1"""	114835	"""carboxylesterase 1 (monocyte/macrophage serine esterase 1)"""			2070086, 20931200	Standard	XM_005255774		Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000361503.4:c.536+1G>T	16.37:g.55857462C>A						CES1_uc002eil.2_Missense_Mutation_p.S180I|CES1_uc002ein.2_Missense_Mutation_p.S179I	p.S179I	NM_001025194	NP_001020365	P23141	EST1_HUMAN		all cancers(182;0.13)|Epithelial(162;0.137)	4	644	-			179					A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Missense_Mutation	SNP	ENST00000361503.4	37	c.536G>T	CCDS45488.1	.	.	.	.	.	.	.	.	.	.	.	15.33	2.802552	0.50315	.	.	ENSG00000198848	ENST00000360526;ENST00000361503;ENST00000422046;ENST00000426667	T;T;T	0.72167	-0.63;-0.63;-0.63	4.05	4.05	0.47172	Carboxylesterase, type B (1);	0.000000	0.64402	D	0.000001	D	0.87152	0.6106	H	0.94620	3.56	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.996	D;D;P	0.69142	0.936;0.962;0.895	D	0.90811	0.4701	9	.	.	.	.	13.7472	0.62883	0.0:1.0:0.0:0.0	.	179;179;180	E9PAU8;P23141;P23141-2	.;EST1_HUMAN;.	I	180;179;179;44	ENSP00000353720:S180I;ENSP00000355193:S179I;ENSP00000390492:S179I	.	S	-	2	0	CES1	54414963	1.000000	0.71417	1.000000	0.80357	0.170000	0.22686	7.112000	0.77086	1.829000	0.53265	0.400000	0.26472	AGC		0.562	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000433285.1	NM_001266	Missense_Mutation	13	40	1	0	9.16793e-09	0.00499	1.2118e-08	13	40				
NLRC5	84166	broad.mit.edu	37	16	57110788	57110788	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:57110788G>T	ENST00000262510.6	+	40	5034	c.4809G>T	c.(4807-4809)agG>agT	p.R1603S	NLRC5_ENST00000308149.7_Missense_Mutation_p.R1574S|NLRC5_ENST00000539144.1_Missense_Mutation_p.R1574S|NLRC5_ENST00000436936.1_3'UTR	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1603					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				AGGCTCTCAGGGCTGCCACCA	0.552																																							uc002ekk.1		NA																	0				ovary(4)|skin(2)|breast(1)	7						c.(4807-4809)AGG>AGT		nucleotide-binding oligomerization domains 27							67.0	63.0	64.0					16																	57110788		2198	4300	6498	SO:0001583	missense	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57110788G>T	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.4809G>T	16.37:g.57110788G>T	ENSP00000262510:p.Arg1603Ser					NLRC5_uc010ccr.1_RNA|NLRC5_uc010ccs.1_RNA|NLRC5_uc002eko.1_RNA|NLRC5_uc002ekq.1_Missense_Mutation_p.R145S|NLRC5_uc002ekr.1_Missense_Mutation_p.R490S	p.R1603S	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN			40	5034	+		all_neural(199;0.225)	1603					B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	c.4809G>T	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.563893	0.45694	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000539144	T;T;T	0.50813	0.73;0.73;0.73	5.15	-0.149	0.13420	.	.	.	.	.	T	0.36552	0.0971	M	0.67397	2.05	0.80722	D	1	B	0.31077	0.307	B	0.29440	0.102	T	0.15636	-1.0430	9	0.09084	T	0.74	.	7.393	0.26921	0.4668:0.0:0.5332:0.0	.	1603	Q86WI3	NLRC5_HUMAN	S	1603;1574;1574	ENSP00000262510:R1603S;ENSP00000308886:R1574S;ENSP00000441727:R1574S	ENSP00000262510:R1603S	R	+	3	2	NLRC5	55668289	0.757000	0.28394	0.970000	0.41538	0.686000	0.39977	0.974000	0.29436	0.018000	0.15052	-0.290000	0.09829	AGG		0.552	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		7	46	1	0	2.17888e-05	0.006214	2.52532e-05	7	46				
CMTM2	146225	broad.mit.edu	37	16	66613615	66613615	+	Silent	SNP	G	G	A	rs187643040	byFrequency	TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:66613615G>A	ENST00000268595.2	+	1	256	c.105G>A	c.(103-105)tcG>tcA	p.S35S	RP11-403P17.2_ENST00000568430.1_RNA|CMTM2_ENST00000379486.2_Silent_p.S35S	NM_144673.2	NP_653274.1	Q8TAZ6	CKLF2_HUMAN	CKLF-like MARVEL transmembrane domain containing 2	35					chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)		AGGAGCCATCGGACAAACCTC	0.617													g|||	2	0.000399361	0.0008	0.0	5008	,	,		14220	0.0		0.001	False		,,,				2504	0.0						uc002ept.2		NA																	0				ovary(1)	1						c.(103-105)TCG>TCA		chemokine-like factor superfamily 2							81.0	74.0	76.0					16																	66613615		2201	4300	6501	SO:0001819	synonymous_variant	146225				chemotaxis	extracellular space|integral to membrane	cytokine activity	g.chr16:66613615G>A	BC025354	CCDS10814.1, CCDS56001.1	16q22.1-q22.3	2008-02-05	2005-11-08	2005-11-08	ENSG00000140932	ENSG00000140932			19173	protein-coding gene	gene with protein product		607885	"""chemokine-like factor super family 2"", ""chemokine-like factor superfamily 2"""	CKLFSF2			Standard	NM_001199317		Approved	MGC39436, FLJ25732	uc002ept.3	Q8TAZ6	OTTHUMG00000137501	ENST00000268595.2:c.105G>A	16.37:g.66613615G>A						CMTM2_uc010cdu.2_Silent_p.S35S	p.S35S	NM_144673	NP_653274	Q8TAZ6	CKLF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)	1	265	+		Ovarian(137;0.0563)	35					Q5I2A4|Q8N7E5	Silent	SNP	ENST00000268595.2	37	c.105G>A	CCDS10814.1																																																																																				0.617	CMTM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268808.1			6	62	0	0	0	0.00308	0	6	62				
HYDIN	54768	broad.mit.edu	37	16	70977764	70977764	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:70977764C>A	ENST00000393567.2	-	42	6770	c.6620G>T	c.(6619-6621)tGt>tTt	p.C2207F		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2207					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CGGGAGCACACAGCTCATCAG	0.627																																							uc002ezr.2		NA																	0				ovary(1)|skin(1)	2						c.(6616-6618)TGT>TTT		hydrocephalus inducing isoform a							34.0	35.0	35.0					16																	70977764		2034	4188	6222	SO:0001583	missense	54768							g.chr16:70977764C>A	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.6620G>T	16.37:g.70977764C>A	ENSP00000377197:p.Cys2207Phe						p.C2206F	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			42	6745	-		Ovarian(137;0.0654)	2207					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.6617G>T	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.257629	0.39896	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01059	5.39	4.95	4.95	0.65309	.	0.000000	0.36303	U	0.002662	T	0.05181	0.0138	L	0.46885	1.475	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.44544	-0.9321	10	0.72032	D	0.01	.	18.1532	0.89682	0.0:1.0:0.0:0.0	.	2206	F8WD23	.	F	2207;2206	ENSP00000377197:C2207F	ENSP00000313052:C2206F	C	-	2	0	HYDIN	69535265	0.999000	0.42202	1.000000	0.80357	0.634000	0.38068	4.075000	0.57584	2.442000	0.82660	0.609000	0.83330	TGT		0.627	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			10	24	1	0	2.27111e-07	0.001368	2.85232e-07	10	24				
AP1G1	164	broad.mit.edu	37	16	71823291	71823291	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:71823291C>A	ENST00000299980.4	-	2	533	c.92G>T	c.(91-93)tGt>tTt	p.C31F	AP1G1_ENST00000569748.1_Missense_Mutation_p.C31F|AP1G1_ENST00000393512.3_Missense_Mutation_p.C31F|AP1G1_ENST00000423132.2_Missense_Mutation_p.C31F|AP1G1_ENST00000433195.2_Missense_Mutation_p.C54F|AP1G1_ENST00000570297.1_5'UTR	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	31					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				GATTGCAGCACATTCTTTCTG	0.502																																							uc010cgg.2		NA																	0				ovary(2)	2						c.(91-93)TGT>TTT		adaptor-related protein complex 1, gamma 1							175.0	141.0	153.0					16																	71823291		2198	4300	6498	SO:0001583	missense	164				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity	g.chr16:71823291C>A	Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"""gamma1-adaptin"""	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.92G>T	16.37:g.71823291C>A	ENSP00000299980:p.Cys31Phe					AP1G1_uc002fba.2_Missense_Mutation_p.C31F|AP1G1_uc002fbb.2_Missense_Mutation_p.C54F|AP1G1_uc010vmg.1_RNA|AP1G1_uc010vmh.1_Missense_Mutation_p.C113F	p.C31F	NM_001128	NP_001119	O43747	AP1G1_HUMAN			2	406	-		Ovarian(137;0.125)	31					O75709|O75842|Q9UG09|Q9Y3U4	Missense_Mutation	SNP	ENST00000299980.4	37	c.92G>T	CCDS32480.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.023039	0.93462	.	.	ENSG00000166747	ENST00000299980;ENST00000393512;ENST00000423132;ENST00000433195;ENST00000425422;ENST00000450149	T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79	5.47	5.47	0.80525	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.62551	0.2437	M	0.92923	3.36	0.80722	D	1	D;D;D;D	0.89917	0.999;0.983;0.996;1.0	D;D;D;D	0.75020	0.985;0.926;0.926;0.984	T	0.71437	-0.4593	10	0.59425	D	0.04	-7.0177	19.3236	0.94252	0.0:1.0:0.0:0.0	.	113;31;54;31	B4DS96;O43747;B3KXW5;O43747-2	.;AP1G1_HUMAN;.;.	F	31;31;31;54;113;31	ENSP00000299980:C31F;ENSP00000377148:C31F;ENSP00000409153:C31F;ENSP00000403259:C54F;ENSP00000405836:C31F	ENSP00000299980:C31F	C	-	2	0	AP1G1	70380792	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.484000	0.81180	2.560000	0.86352	0.467000	0.42956	TGT		0.502	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434147.1			20	52	1	0	9.57634e-11	0.00333	1.3434e-10	20	52				
DHX38	9785	broad.mit.edu	37	16	72141433	72141433	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:72141433C>T	ENST00000268482.3	+	20	3304	c.2795C>T	c.(2794-2796)gCc>gTc	p.A932V	DHX38_ENST00000536867.1_Missense_Mutation_p.A244V	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	932					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				ATCCTCGGGGCCCTGGACAAC	0.597																																					Melanoma(97;711 1442 7855 13832 28836)	Melanoma(97;711 1442 7855 13832 28836)	uc002fcb.2		NA																	0				skin(1)	1						c.(2794-2796)GCC>GTC		DEAH (Asp-Glu-Ala-His) box polypeptide 38							46.0	49.0	48.0					16																	72141433		2198	4300	6498	SO:0001583	missense	9785				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr16:72141433C>T	AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"""DEAH-boxes"""	17211	protein-coding gene	gene with protein product		605584	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"""	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.2795C>T	16.37:g.72141433C>T	ENSP00000268482:p.Ala932Val					DHX38_uc010vmp.1_Missense_Mutation_p.A244V	p.A932V	NM_014003	NP_054722	Q92620	PRP16_HUMAN			20	3150	+		Ovarian(137;0.125)	932					B4DVG8|D3DWS7|O75212|Q96HN7	Missense_Mutation	SNP	ENST00000268482.3	37	c.2795C>T	CCDS10907.1	.	.	.	.	.	.	.	.	.	.	C	35	5.538396	0.96460	.	.	ENSG00000140829	ENST00000268482;ENST00000536867	T;T	0.55413	0.52;0.52	5.43	5.43	0.79202	Helicase-associated domain (2);	0.061993	0.64402	D	0.000005	D	0.83234	0.5210	H	0.97540	4.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.992;0.997	D	0.88719	0.3228	10	0.87932	D	0	.	19.0281	0.92941	0.0:1.0:0.0:0.0	.	244;932	B4DVG8;Q92620	.;PRP16_HUMAN	V	932;244	ENSP00000268482:A932V;ENSP00000437898:A244V	ENSP00000268482:A932V	A	+	2	0	DHX38	70698934	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.503000	0.81632	2.825000	0.97269	0.655000	0.94253	GCC		0.597	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003		9	21	0	0	0	0.008291	0	9	21				
ZFHX3	463	broad.mit.edu	37	16	72991600	72991600	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:72991600C>A	ENST00000268489.5	-	2	3117	c.2445G>T	c.(2443-2445)gtG>gtT	p.V815V	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	815					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.V815V(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GGTTCCTGGCCACGTTGGTCT	0.552																																							uc002fck.2		NA																	1	Substitution - coding silent(1)		ovary(1)	ovary(2)|skin(2)	4						c.(2443-2445)GTG>GTT		zinc finger homeobox 3 isoform A							207.0	174.0	185.0					16																	72991600		2198	4300	6498	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72991600C>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.2445G>T	16.37:g.72991600C>A						ZFHX3_uc002fcl.2_Intron	p.V815V	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN			2	3118	-		Ovarian(137;0.13)	815			C2H2-type 5; atypical.		D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.2445G>T	CCDS10908.1																																																																																				0.552	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		30	104	1	0	4.74835e-14	0.002096	7.16833e-14	30	104				
GLG1	2734	broad.mit.edu	37	16	74537629	74537629	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:74537629C>G	ENST00000422840.2	-	4	573	c.574G>C	c.(574-576)Gat>Cat	p.D192H	GLG1_ENST00000205061.5_Missense_Mutation_p.D192H|GLG1_ENST00000447066.2_Missense_Mutation_p.D181H	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	192					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						ACCGGTTCATCAGCACATTCT	0.388																																							uc002fcy.3		NA																	0				ovary(1)|breast(1)	2						c.(574-576)GAT>CAT		golgi apparatus protein 1 isoform 3							141.0	124.0	130.0					16																	74537629		2198	4300	6498	SO:0001583	missense	2734					Golgi membrane|integral to membrane	receptor binding	g.chr16:74537629C>G		CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"""golgi apparatus protein 1"""			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.574G>C	16.37:g.74537629C>G	ENSP00000405984:p.Asp192His					GLG1_uc002fcx.2_Missense_Mutation_p.D192H|GLG1_uc002fcw.3_Missense_Mutation_p.D181H|GLG1_uc002fcz.3_5'UTR	p.D192H	NM_001145667	NP_001139139	Q92896	GSLG1_HUMAN			4	624	-			192			Cys-rich GLG1 2.|Extracellular (Potential).		B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Missense_Mutation	SNP	ENST00000422840.2	37	c.574G>C	CCDS45527.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588486	0.86851	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	5.53	5.53	0.82687	.	0.196730	0.42172	D	0.000760	T	0.52419	0.1733	L	0.38175	1.15	0.47407	D	0.999417	B;D;P	0.54601	0.06;0.967;0.927	B;P;P	0.51170	0.048;0.661;0.616	T	0.53535	-0.8425	9	0.54805	T	0.06	-3.2113	12.774	0.57437	0.0:0.9252:0.0:0.0748	.	192;192;181	Q92896;Q92896-2;B7Z8Y4	GSLG1_HUMAN;.;.	H	192;181;192	.	ENSP00000205061:D192H	D	-	1	0	GLG1	73095130	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.001000	0.70685	2.593000	0.87608	0.655000	0.94253	GAT		0.388	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201		11	51	0	0	0	0.001368	0	11	51				
ADAMTS18	170692	broad.mit.edu	37	16	77401560	77401560	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:77401560C>A	ENST00000282849.5	-	4	974	c.556G>T	c.(556-558)Gcc>Tcc	p.A186S	ADAMTS18_ENST00000567121.1_5'UTR	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	186					eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TGTTCCTGGGCCAGAAGCTGA	0.493																																							uc002ffc.3		NA																	0				large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						c.(556-558)GCC>TCC		ADAM metallopeptidase with thrombospondin type 1							122.0	108.0	113.0					16																	77401560		2198	4300	6498	SO:0001583	missense	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77401560C>A	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.556G>T	16.37:g.77401560C>A	ENSP00000282849:p.Ala186Ser					ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_RNA	p.A186S	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN			4	975	-			186					Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	c.556G>T	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.713958	0.89112	.	.	ENSG00000140873	ENST00000282849;ENST00000449265	T;T	0.60040	0.22;2.75	4.72	4.72	0.59763	Peptidase M12B, propeptide (1);	0.000000	0.85682	D	0.000000	T	0.56470	0.1987	L	0.42487	1.325	0.58432	D	0.999996	B	0.33379	0.41	B	0.41135	0.348	T	0.53493	-0.8431	10	0.27785	T	0.31	.	16.8505	0.85992	0.0:1.0:0.0:0.0	.	186	Q8TE60	ATS18_HUMAN	S	186	ENSP00000282849:A186S;ENSP00000392540:A186S	ENSP00000282849:A186S	A	-	1	0	ADAMTS18	75959061	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.320000	0.79064	2.446000	0.82766	0.555000	0.69702	GCC		0.493	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			17	59	1	0	5.26018e-13	0.001882	7.8533e-13	17	59				
CMIP	80790	broad.mit.edu	37	16	81730228	81730228	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:81730228G>T	ENST00000537098.3	+	14	1666	c.1594G>T	c.(1594-1596)Gga>Tga	p.G532*	CMIP_ENST00000539778.2_Nonsense_Mutation_p.G438*|CMIP_ENST00000398040.4_Nonsense_Mutation_p.G379*|CMIP_ENST00000566513.1_3'UTR	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	532						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(5)|kidney(1)|lung(7)	13						CTACAGCCCCGGAGGGGTGGC	0.647																																							uc002fgp.2		NA																	0					0						c.(1594-1596)GGA>TGA		c-Maf-inducing protein isoform C-mip							34.0	38.0	37.0					16																	81730228		1997	4152	6149	SO:0001587	stop_gained	80790					cytoplasm|nucleus		g.chr16:81730228G>T	AB051481	CCDS54044.1, CCDS54045.1	16q23	2011-08-04			ENSG00000153815	ENSG00000153815			24319	protein-coding gene	gene with protein product		610112				11214970, 12939343	Standard	NM_030629		Approved		uc002fgp.3	Q8IY22		ENST00000537098.3:c.1594G>T	16.37:g.81730228G>T	ENSP00000446100:p.Gly532*					CMIP_uc002fgq.1_Nonsense_Mutation_p.G438*|CMIP_uc010vnq.1_Nonsense_Mutation_p.G345*|CMIP_uc002fgr.1_Nonsense_Mutation_p.G379*|CMIP_uc010vnr.1_Nonsense_Mutation_p.G98*	p.G532*	NM_198390	NP_938204	Q8IY22	CMIP_HUMAN			14	1666	+			498					Q9C0G9	Nonsense_Mutation	SNP	ENST00000537098.3	37	c.1594G>T	CCDS54044.1	.	.	.	.	.	.	.	.	.	.	G	41	8.903482	0.98996	.	.	ENSG00000153815	ENST00000537098;ENST00000539778;ENST00000398040;ENST00000542097	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	19.3912	0.94583	0.0:0.0:1.0:0.0	.	.	.	.	X	532;438;438;345	.	ENSP00000381120:G438X	G	+	1	0	CMIP	80287729	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.434000	0.97515	2.575000	0.86900	0.462000	0.41574	GGA		0.647	CMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432399.2	NM_030629		10	30	1	0	9.31168e-06	0.001855	1.10067e-05	10	30				
ADAD2	161931	broad.mit.edu	37	16	84229857	84229857	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:84229857G>T	ENST00000315906.5	+	8	1459	c.1407G>T	c.(1405-1407)ggG>ggT	p.G469G	RP11-486L19.2_ENST00000561900.1_RNA|ADAD2_ENST00000268624.3_Silent_p.G551G|RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	469	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				RNA processing (GO:0006396)		adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						TGTTTGCAGGGCCCCCGGTGG	0.692																																							uc002fhr.2		NA																	0					0						c.(1405-1407)GGG>GGT		adenosine deaminase domain containing 2 isoform							44.0	51.0	49.0					16																	84229857		2200	4299	6499	SO:0001819	synonymous_variant	161931				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding	g.chr16:84229857G>T	AF447586	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			ENSG00000140955	ENSG00000140955			30714	protein-coding gene	gene with protein product							Standard	NM_139174		Approved	TENRL, FLJ00337	uc002fhr.2	Q8NCV1	OTTHUMG00000137637	ENST00000315906.5:c.1407G>T	16.37:g.84229857G>T						ADAD2_uc002fhq.2_Silent_p.G551G|uc002fhs.1_Intron	p.G469G	NM_001145400	NP_001138872	Q8NCV1	ADAD2_HUMAN			8	1521	+			469			A to I editase.		B2RCL6|Q8NA94	Silent	SNP	ENST00000315906.5	37	c.1407G>T	CCDS45536.1																																																																																				0.692	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433385.1	NM_139174		12	70	1	0	6.31663e-08	0.003163	8.15349e-08	12	70				
KLHL36	79786	broad.mit.edu	37	16	84690791	84690791	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:84690791G>T	ENST00000564996.1	+	3	519	c.378G>T	c.(376-378)ctG>ctT	p.L126L	KLHL36_ENST00000258157.5_Silent_p.L126L	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	126					protein ubiquitination (GO:0016567)					endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CTCACCTGCTGCAGATCTGGA	0.602																																							uc002fig.2		NA																	0				skin(2)	2						c.(376-378)CTG>CTT		kelch-like 36							86.0	81.0	83.0					16																	84690791		2199	4300	6499	SO:0001819	synonymous_variant	79786							g.chr16:84690791G>T	AK022605	CCDS10948.1	16q24.1	2013-02-22	2013-02-22	2008-07-07	ENSG00000135686	ENSG00000135686		"""Kelch-like"", ""BTB/POZ domain containing"""	17844	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 44"", ""kelch-like 36 (Drosophila)"""	C16orf44			Standard	NM_024731		Approved	FLJ12543	uc002fig.3	Q8N4N3	OTTHUMG00000137642	ENST00000564996.1:c.378G>T	16.37:g.84690791G>T						KLHL36_uc010chl.2_Silent_p.L125L	p.L126L	NM_024731	NP_079007	Q8N4N3	KLH36_HUMAN			3	519	+			126					Q8N5G6|Q9H9U6	Silent	SNP	ENST00000564996.1	37	c.378G>T	CCDS10948.1																																																																																				0.602	KLHL36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269084.2			8	46	1	0	0.000274275	0.004482	0.000304364	8	46				
CDH15	1013	broad.mit.edu	37	16	89245932	89245932	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr16:89245932C>A	ENST00000289746.2	+	2	216	c.151C>A	c.(151-153)Ccg>Acg	p.P51T	CDH15_ENST00000521087.1_3'UTR	NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	51					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GGTCATCCCCCCGATCAGCGT	0.687																																							uc002fmt.2		NA																	0				skin(1)	1						c.(151-153)CCG>ACG		cadherin 15 preproprotein							77.0	79.0	78.0					16																	89245932		2198	4300	6498	SO:0001583	missense	1013				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding	g.chr16:89245932C>A	D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"""Cadherins / Major cadherins"""	1754	protein-coding gene	gene with protein product		114019	"""cadherin 15, M-cadherin (myotubule)"""	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.151C>A	16.37:g.89245932C>A	ENSP00000289746:p.Pro51Thr					CDH15_uc010cij.1_Missense_Mutation_p.P51T	p.P51T	NM_004933	NP_004924	P55291	CAD15_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0261)	2	228	+			51						Missense_Mutation	SNP	ENST00000289746.2	37	c.151C>A	CCDS10976.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942137	0.73672	.	.	ENSG00000129910	ENST00000289746	T	0.58210	0.35	4.58	4.58	0.56647	Cadherin-like (1);	0.000000	0.53938	D	0.000058	T	0.70439	0.3224	M	0.66378	2.025	0.43988	D	0.996681	D	0.89917	1.0	D	0.80764	0.994	T	0.74520	-0.3638	10	0.66056	D	0.02	.	16.1244	0.81382	0.0:1.0:0.0:0.0	.	51	P55291	CAD15_HUMAN	T	51	ENSP00000289746:P51T	ENSP00000289746:P51T	P	+	1	0	CDH15	87773433	0.985000	0.35326	0.961000	0.40146	0.632000	0.37999	5.158000	0.64917	2.104000	0.64026	0.407000	0.27541	CCG		0.687	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269920.1	NM_004933		10	34	1	0	1.08611e-07	0.000978	1.38156e-07	10	34				
C17orf97	400566	broad.mit.edu	37	17	263305	263305	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:263305G>T	ENST00000360127.6	+	2	687	c.671G>T	c.(670-672)gGc>gTc	p.G224V	C17orf97_ENST00000571106.1_Intron|AC108004.3_ENST00000466740.2_RNA	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	224	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.									breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						GCCCTCAAGGGCTTCCACCCC	0.697																																							uc002frh.2		NA																	0				ovary(1)	1						c.(700-702)GGC>GTC		hypothetical protein LOC400566							6.0	13.0	11.0					17																	263305		1642	4128	5770	SO:0001583	missense	400566							g.chr17:263305G>T	AK128660, BC057385	CCDS32519.2	17p13.3	2008-08-15			ENSG00000187624	ENSG00000187624			33800	protein-coding gene	gene with protein product						12477932	Standard	NM_001013672		Approved	LOC400566	uc021tna.1	Q6ZQX7	OTTHUMG00000132479	ENST00000360127.6:c.671G>T	17.37:g.263305G>T	ENSP00000353245:p.Gly224Val					C17orf97_uc010vpz.1_RNA	p.G234V	NM_001013672	NP_001013694	Q6ZQX7	CQ097_HUMAN			3	717	+			234			4.|20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.		A5D8T6|Q6NSI2|Q6PFW9	Missense_Mutation	SNP	ENST00000360127.6	37	c.701G>T	CCDS32519.2	.	.	.	.	.	.	.	.	.	.	G	4.917	0.170363	0.09339	.	.	ENSG00000187624	ENST00000360127	T	0.35236	1.32	1.46	-1.37	0.09056	.	.	.	.	.	T	0.16471	0.0396	N	0.14661	0.345	0.09310	N	1	B	0.27700	0.186	B	0.17098	0.017	T	0.19484	-1.0304	9	0.26408	T	0.33	.	5.7396	0.18085	0.3415:0.0:0.6585:0.0	.	224	Q6ZQX7-4	.	V	224	ENSP00000353245:G224V	ENSP00000353245:G224V	G	+	2	0	C17orf97	263651	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-4.650000	0.00203	-0.345000	0.08325	0.195000	0.17529	GGC		0.697	C17orf97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255648.4	NM_001013672		33	21	1	0	4.34086e-07	0.005524	5.4197e-07	33	21				
GEMIN4	50628	broad.mit.edu	37	17	649543	649543	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:649543C>G	ENST00000319004.5	-	2	1858	c.1740G>C	c.(1738-1740)caG>caC	p.Q580H	GEMIN4_ENST00000576778.1_Missense_Mutation_p.Q569H	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	580					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CAGTGAGAATCTGGGCCAGGA	0.557																																							uc002frs.1		NA																	0				ovary(2)|kidney(1)|skin(1)	4						c.(1738-1740)CAG>CAC		gemin 4							76.0	84.0	81.0					17																	649543		2005	4182	6187	SO:0001583	missense	50628				rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding	g.chr17:649543C>G	AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"""HCC-associated protein 1"", ""component of gems 4"""	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.1740G>C	17.37:g.649543C>G	ENSP00000321706:p.Gln580His						p.Q580H	NM_015721	NP_056536	P57678	GEMI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	2	1859	-		Myeloproliferative disorder(207;0.204)	580					Q9NZS7|Q9UG32|Q9Y4Q2	Missense_Mutation	SNP	ENST00000319004.5	37	c.1740G>C	CCDS45559.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.737782	0.49045	.	.	ENSG00000179409	ENST00000319004	T	0.16597	2.33	5.84	4.87	0.63330	.	0.244071	0.42172	D	0.000741	T	0.35128	0.0921	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	D	0.67548	0.952	T	0.08700	-1.0709	10	0.72032	D	0.01	-16.1357	10.135	0.42701	0.0:0.8336:0.0:0.1664	.	580	P57678	GEMI4_HUMAN	H	580	ENSP00000321706:Q580H	ENSP00000321706:Q580H	Q	-	3	2	GEMIN4	596293	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.512000	0.35812	1.481000	0.48307	0.591000	0.81541	CAG		0.557	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437181.1	NM_015721		25	23	0	0	0	0.008361	0	25	23				
TRPV3	162514	broad.mit.edu	37	17	3417887	3417887	+	Splice_Site	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:3417887C>T	ENST00000576742.1	-	17	2599	c.2278G>A	c.(2278-2280)Gat>Aat	p.D760N	TRPV3_ENST00000572519.1_Missense_Mutation_p.G760S|SPATA22_ENST00000541913.1_5'Flank|TRPV3_ENST00000301365.4_Splice_Site_p.A760T	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	760					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	GCGACAGTACCTGTTCGTCTT	0.502																																							uc002fvt.1		NA																	0				ovary(4)	4						c.(2278-2280)GAT>AAT		transient receptor potential cation channel,	Menthol(DB00825)						200.0	136.0	158.0					17																	3417887		2203	4300	6503	SO:0001630	splice_region_variant	162514					integral to membrane	calcium channel activity	g.chr17:3417887C>T	AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.2278+1G>A	17.37:g.3417887C>T						SPATA22_uc010vrg.1_5'Flank|TRPV3_uc002fvs.1_RNA|TRPV3_uc010vrh.1_Missense_Mutation_p.D744N|TRPV3_uc010vri.1_Missense_Mutation_p.D715N|TRPV3_uc010vrj.1_Missense_Mutation_p.D744N|TRPV3_uc010vrk.1_RNA|TRPV3_uc010vrl.1_Missense_Mutation_p.A744T|TRPV3_uc010vrm.1_RNA|TRPV3_uc002fvr.2_Missense_Mutation_p.A760T|TRPV3_uc002fvu.2_Missense_Mutation_p.G760S	p.D760N	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN			17	2600	-			760			Cytoplasmic (Potential).		Q8NDW7|Q8NET9|Q8NFH2	Missense_Mutation	SNP	ENST00000576742.1	37	c.2278G>A	CCDS11029.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	11.35|11.35	1.611463|1.611463	0.28712|0.28712	.|.	.|.	ENSG00000167723|ENSG00000167723	ENST00000381913;ENST00000430263|ENST00000301365	.|.	.|.	.|.	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	0.373473|.	0.25747|.	N|.	0.028566|.	T|T	0.28632|0.28632	0.0709|0.0709	N|N	0.22421|0.22421	0.69|0.69	0.28157|0.28157	N|N	0.929152|0.929152	B;B|B;P;B;P	0.22414|0.46706	0.069;0.02|0.201;0.546;0.18;0.883	B;B|B;B;B;B	0.21360|0.40329	0.034;0.034|0.081;0.244;0.083;0.326	T|T	0.11275|0.11275	-1.0594|-1.0594	8|7	.|.	.|.	.|.	.|.	16.9659|16.9659	0.86285|0.86285	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	744;760|745;761;744;760	E7EV24;Q8NET8-2|B7ZKP9;Q2M3L1;B7ZKP6;Q8NET8	.;.|.;.;.;TRPV3_HUMAN	T|N	760;744|760	.|.	.|.	A|D	-|-	1|1	0|0	TRPV3|TRPV3	3364637|3364637	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.219000|0.219000	0.24729|0.24729	1.187000|1.187000	0.32090|0.32090	2.769000|2.769000	0.95229|0.95229	0.563000|0.563000	0.77884|0.77884	GCA|GAT		0.502	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207379.2	NM_145068	Missense_Mutation	25	13	0	0	0	0.00632	0	25	13				
PELP1	27043	broad.mit.edu	37	17	4576947	4576947	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:4576947C>A	ENST00000574876.1	-	14	1622	c.1605G>T	c.(1603-1605)atG>atT	p.M535I	PELP1_ENST00000301396.4_Missense_Mutation_p.M679I|PELP1_ENST00000572293.1_Missense_Mutation_p.M585I|AC091153.4_ENST00000441700.2_RNA|PELP1_ENST00000436683.2_Missense_Mutation_p.M388I|PELP1_ENST00000269230.7_Intron			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	535					cellular response to estrogen stimulus (GO:0071391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						GAGGCCCACACATGAGGATGG	0.577																																							uc002fyi.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1603-1605)ATG>ATT		proline, glutamic acid and leucine rich protein							90.0	88.0	89.0					17																	4576947		1960	4155	6115	SO:0001583	missense	27043				transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding	g.chr17:4576947C>A		CCDS58503.1, CCDS58503.2, CCDS62038.1	17p13.2	2012-05-02	2008-02-21			ENSG00000141456			30134	protein-coding gene	gene with protein product		609455	"""proline, glutamic acid and leucine rich protein 1"""			11481323, 12682072	Standard	NM_014389		Approved	MNAR	uc002fyi.4	Q8IZL8		ENST00000574876.1:c.1605G>T	17.37:g.4576947C>A	ENSP00000461625:p.Met535Ile					PELP1_uc010vsf.1_Missense_Mutation_p.M388I	p.M535I	NM_014389	NP_055204	Q8IZL8	PELP1_HUMAN			14	1831	-			535					O15450|Q5EGN3|Q6NTE6|Q96FT1|Q9BU60	Missense_Mutation	SNP	ENST00000574876.1	37	c.1605G>T	CCDS58503.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.630821	0.28978	.	.	ENSG00000141456	ENST00000301396;ENST00000436683	T;T	0.66099	-0.19;-0.13	5.44	5.44	0.79542	.	0.285780	0.39687	N	0.001290	T	0.43986	0.1272	N	0.14661	0.345	0.34072	D	0.658547	P;P	0.44090	0.826;0.826	B;B	0.40940	0.344;0.344	T	0.53913	-0.8371	10	0.22706	T	0.39	-30.3027	12.3229	0.54995	0.0:0.8304:0.1696:0.0	.	388;535	E7EV54;Q8IZL8	.;PELP1_HUMAN	I	679;388	ENSP00000301396:M679I;ENSP00000416231:M388I	ENSP00000301396:M679I	M	-	3	0	AC091153.1	4523696	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.857000	0.39399	2.833000	0.97629	0.650000	0.86243	ATG		0.577	PELP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000439140.2	NM_014389		46	28	1	0	2.53126e-37	0.00361	4.61273e-37	46	28				
AIPL1	23746	broad.mit.edu	37	17	6329034	6329034	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:6329034C>A	ENST00000381129.3	-	6	981	c.901G>T	c.(901-903)Gtg>Ttg	p.V301L	AIPL1_ENST00000574506.1_Missense_Mutation_p.V289L|AIPL1_ENST00000250087.5_Missense_Mutation_p.V238L|AIPL1_ENST00000570466.1_Missense_Mutation_p.V279L|AIPL1_ENST00000575265.1_3'UTR|AIPL1_ENST00000576776.1_Missense_Mutation_p.V277L|AIPL1_ENST00000576307.1_Missense_Mutation_p.V241L	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1	301					negative regulation of apoptotic process (GO:0043066)|phototransduction, visible light (GO:0007603)|protein farnesylation (GO:0018343)|protein folding (GO:0006457)|regulation of cGMP metabolic process (GO:0030823)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)	farnesylated protein binding (GO:0001918)|unfolded protein binding (GO:0051082)			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		TCCCTGCGCACCGCCTTCTGC	0.677																																							uc002gcp.2		NA																	0					0						c.(901-903)GTG>TTG		aryl hydrocarbon receptor interacting							43.0	39.0	40.0					17																	6329034		2203	4300	6503	SO:0001583	missense	23746				protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding	g.chr17:6329034C>A	AF148864	CCDS11075.1, CCDS32539.1, CCDS32540.1, CCDS67130.1, CCDS67131.1, CCDS67132.1, CCDS67133.1	17p13.1	2013-01-08	2001-11-29		ENSG00000129221	ENSG00000129221			359	protein-coding gene	gene with protein product		604392	"""aryl hydrocarbon receptor-interacting protein-like 1"""	LCA4		10615133, 14555765, 15365173	Standard	NM_001285402		Approved		uc002gcp.3	Q9NZN9	OTTHUMG00000102043	ENST00000381129.3:c.901G>T	17.37:g.6329034C>A	ENSP00000370521:p.Val301Leu					AIPL1_uc002gcq.2_Missense_Mutation_p.V241L|AIPL1_uc002gcr.2_Missense_Mutation_p.V238L|AIPL1_uc010clk.2_Missense_Mutation_p.V279L|AIPL1_uc010cll.2_Missense_Mutation_p.V277L|AIPL1_uc002gcs.2_3'UTR	p.V301L	NM_014336	NP_055151	Q9NZN9	AIPL1_HUMAN		COAD - Colon adenocarcinoma(228;0.141)	6	996	-			301					D3DTM4|Q659W3|Q659W4|Q6ZZB6|Q8N6A0|Q9H873|Q9NS10	Missense_Mutation	SNP	ENST00000381129.3	37	c.901G>T	CCDS11075.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.718598	0.89205	.	.	ENSG00000129221	ENST00000381129;ENST00000381128;ENST00000250087;ENST00000444243	T;T	0.73681	-0.77;-0.77	4.98	4.98	0.66077	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.80491	0.4633	L	0.43923	1.385	0.80722	D	1	P;D;D;D;D	0.71674	0.894;0.989;0.985;0.991;0.998	B;P;D;P;D	0.64595	0.437;0.881;0.918;0.861;0.927	T	0.81311	-0.0990	10	0.51188	T	0.08	-43.1207	15.726	0.77761	0.0:1.0:0.0:0.0	.	277;279;238;241;301	Q659W3;Q659W4;Q9NZN9-3;Q9NZN9-2;Q9NZN9	.;.;.;.;AIPL1_HUMAN	L	301;241;238;301	ENSP00000370521:V301L;ENSP00000250087:V238L	ENSP00000250087:V238L	V	-	1	0	AIPL1	6269758	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	5.616000	0.67709	2.294000	0.77228	0.462000	0.41574	GTG		0.677	AIPL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219828.3	NM_014336		22	25	1	0	2.41591e-17	0.004656	3.89638e-17	22	25				
SLC13A5	284111	broad.mit.edu	37	17	6610444	6610444	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:6610444A>T	ENST00000433363.2	-	2	367	c.134T>A	c.(133-135)aTg>aAg	p.M45K	SLC13A5_ENST00000293800.6_Missense_Mutation_p.M45K|SLC13A5_ENST00000381074.4_Intron|SLC13A5_ENST00000573648.1_Missense_Mutation_p.M45K	NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	45					transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	citrate transmembrane transporter activity (GO:0015137)|sodium:dicarboxylate symporter activity (GO:0017153)|succinate transmembrane transporter activity (GO:0015141)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						GTAAATGGCCATGAGGATGAT	0.567																																							uc002gdj.2		NA																	0					0						c.(133-135)ATG>AAG		solute carrier family 13, member 5 isoform a							167.0	147.0	154.0					17																	6610444		2203	4300	6503	SO:0001583	missense	284111					integral to membrane	citrate transmembrane transporter activity	g.chr17:6610444A>T	AJ489980	CCDS11079.1, CCDS45593.1, CCDS67136.1, CCDS67137.1	17p13.1	2013-05-22			ENSG00000141485	ENSG00000141485		"""Solute carriers"""	23089	protein-coding gene	gene with protein product		608305				12445824	Standard	NM_001284510		Approved	NACT	uc002gdj.3	Q86YT5	OTTHUMG00000102052	ENST00000433363.2:c.134T>A	17.37:g.6610444A>T	ENSP00000406220:p.Met45Lys					SLC13A5_uc010vtf.1_Missense_Mutation_p.M45K|SLC13A5_uc010clq.2_Intron|SLC13A5_uc002gdk.2_Missense_Mutation_p.M45K|SLC13A5_uc002gdl.1_5'Flank	p.M45K	NM_177550	NP_808218	Q86YT5	S13A5_HUMAN			2	222	-			45					B3KXR0|B7Z4P2|B7ZLB4|F8W7N2|Q6ZMG1	Missense_Mutation	SNP	ENST00000433363.2	37	c.134T>A	CCDS11079.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.593477	0.86953	.	.	ENSG00000141485	ENST00000293800;ENST00000433363	T;T	0.03242	4.0;4.0	5.4	5.4	0.78164	.	0.033430	0.85682	D	0.000000	T	0.30103	0.0754	H	0.97365	3.99	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.76575	0.988;0.988;0.988	T	0.48779	-0.9005	10	0.87932	D	0	.	13.6947	0.62569	1.0:0.0:0.0:0.0	.	45;45;45	B7ZLB4;B3KXR0;Q86YT5	.;.;S13A5_HUMAN	K	45	ENSP00000293800:M45K;ENSP00000406220:M45K	ENSP00000293800:M45K	M	-	2	0	SLC13A5	6551168	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.495000	0.90481	2.198000	0.70561	0.533000	0.62120	ATG		0.567	SLC13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219853.2	NM_177550		41	27	0	0	0	0.00361	0	41	27				
FBXO39	162517	broad.mit.edu	37	17	6683462	6683462	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:6683462T>A	ENST00000321535.4	+	2	405	c.275T>A	c.(274-276)cTg>cAg	p.L92Q		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	92										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						CTGGAGCACCTGGAGGTCAAA	0.483																																							uc010vtg.1		NA																	0				ovary(1)|skin(1)	2						c.(274-276)CTG>CAG		F-box protein 39							151.0	145.0	147.0					17																	6683462		2203	4300	6503	SO:0001583	missense	162517							g.chr17:6683462T>A	BC034782	CCDS11082.1	17p13.2	2014-01-21			ENSG00000177294	ENSG00000177294		"""F-boxes /  ""other"""""	28565	protein-coding gene	gene with protein product		609106				12477932	Standard	NM_153230		Approved	MGC35179, Fbx39, CT144	uc010vtg.2	Q8N4B4	OTTHUMG00000102062	ENST00000321535.4:c.275T>A	17.37:g.6683462T>A	ENSP00000321386:p.Leu92Gln						p.L92Q	NM_153230	NP_694962	Q8N4B4	FBX39_HUMAN			2	395	+			92						Missense_Mutation	SNP	ENST00000321535.4	37	c.275T>A	CCDS11082.1	.	.	.	.	.	.	.	.	.	.	T	17.94	3.512463	0.64522	.	.	ENSG00000177294	ENST00000321535	T	0.72835	-0.69	5.55	5.55	0.83447	.	0.000000	0.49916	D	0.000124	T	0.76271	0.3964	L	0.32530	0.975	0.41767	D	0.989744	D	0.76494	0.999	D	0.85130	0.997	T	0.79060	-0.1958	10	0.87932	D	0	-13.6672	12.3878	0.55343	0.0:0.0:0.0:1.0	.	92	Q8N4B4	FBX39_HUMAN	Q	92	ENSP00000321386:L92Q	ENSP00000321386:L92Q	L	+	2	0	FBXO39	6624186	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	5.198000	0.65147	2.248000	0.74166	0.533000	0.62120	CTG		0.483	FBXO39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219866.2	NM_153230		101	53	0	0	0	0.00361	0	101	53				
TP53	7157	broad.mit.edu	37	17	7578457	7578457	+	Missense_Mutation	SNP	C	C	G	rs587782144		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:7578457C>G	ENST00000269305.4	-	5	662	c.473G>C	c.(472-474)cGc>cCc	p.R158P	TP53_ENST00000359597.4_Missense_Mutation_p.R158P|TP53_ENST00000445888.2_Missense_Mutation_p.R158P|TP53_ENST00000413465.2_Missense_Mutation_p.R158P|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R158P|TP53_ENST00000455263.2_Missense_Mutation_p.R158P	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	158	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R158L(77)|p.R158H(74)|p.R158P(9)|p.R65L(8)|p.0?(8)|p.R26L(8)|p.R158fs(6)|p.R158fs*11(6)|p.R65H(5)|p.R26H(5)|p.R158_A159insX(4)|p.R65fs(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R26fs(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.R158C(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCCATGGCGCGGACGCGGGT	0.627		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		244	Substitution - Missense(188)|Deletion - Frameshift(19)|Deletion - In frame(13)|Complex(10)|Whole gene deletion(8)|Insertion - In frame(4)|Complex - frameshift(2)	p.R158H(58)|p.R158L(55)|p.R158C(17)|p.R158G(10)|p.R158P(9)|p.0?(7)|p.R158R(6)|p.R158fs*12(5)|p.R158_A159insX(4)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R158fs*11(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R158fs*24(1)|p.R65L(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.R26L(1)|p.V157fs*21(1)|p.R158fs*8(1)	lung(78)|central_nervous_system(33)|oesophagus(20)|haematopoietic_and_lymphoid_tissue(19)|large_intestine(18)|upper_aerodigestive_tract(12)|stomach(12)|urinary_tract(9)|prostate(7)|kidney(6)|liver(6)|breast(5)|bone(4)|soft_tissue(3)|ovary(3)|pancreas(3)|thyroid(2)|biliary_tract(2)|vulva(1)|thymus(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM994513	TP53	M		c.(472-474)CGC>CCC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							49.0	51.0	50.0					17																	7578457		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578457C>G	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.473G>C	17.37:g.7578457C>G	ENSP00000269305:p.Arg158Pro	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R158P|TP53_uc002gih.2_Missense_Mutation_p.R158P|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R26P|TP53_uc010cng.1_Missense_Mutation_p.R26P|TP53_uc002gii.1_Missense_Mutation_p.R26P|TP53_uc010cnh.1_Missense_Mutation_p.R158P|TP53_uc010cni.1_Missense_Mutation_p.R158P|TP53_uc002gij.2_Missense_Mutation_p.R158P|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R65P|TP53_uc002gio.2_Missense_Mutation_p.R26P|TP53_uc010vug.1_Missense_Mutation_p.R119P	p.R158P	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	667	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	158		R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.473G>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.199618	0.58126	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	5.59	4.63	0.57726	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.110116	0.64402	D	0.000010	D	0.99869	0.9938	M	0.92026	3.265	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.997;0.998;0.999;0.998;0.997;1.0	D	0.96498	0.9369	10	0.87932	D	0	-10.4795	12.6491	0.56751	0.0:0.9196:0.0:0.0804	.	119;158;158;65;158;158;158	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	P	158;158;158;158;158;158;147;65;26;65;26;158	ENSP00000410739:R158P;ENSP00000352610:R158P;ENSP00000269305:R158P;ENSP00000398846:R158P;ENSP00000391127:R158P;ENSP00000391478:R158P;ENSP00000425104:R26P;ENSP00000423862:R65P;ENSP00000424104:R158P	ENSP00000269305:R158P	R	-	2	0	TP53	7519182	1.000000	0.71417	0.034000	0.17996	0.175000	0.22909	7.775000	0.85489	1.514000	0.48869	-0.140000	0.14226	CGC		0.627	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		54	30	0	0	0	0.00361	0	54	30				
CTC1	80169	broad.mit.edu	37	17	8140694	8140694	+	Splice_Site	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:8140694T>A	ENST00000315684.8	-	5	798	c.791A>T	c.(790-792)cAg>cTg	p.Q264L	CTC1_ENST00000581671.1_5'UTR	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	264					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						AGTCCTCACCTGCACGATGAT	0.498																																							uc002gkq.3		NA																	0					0						c.(790-792)CAG>CTG		alpha accessory factor 132							98.0	98.0	98.0					17																	8140694		2017	4170	6187	SO:0001630	splice_region_variant	80169				positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	g.chr17:8140694T>A	AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"""conserved telomere maintenance component 1"", ""alpha accessory factor 132"", ""conserved telomere capping protein 1"""	613129	"""tmp494178"", ""chromosome 17 open reading frame 68"""	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.792+1A>T	17.37:g.8140694T>A						C17orf68_uc010cnv.2_RNA	p.Q264L	NM_025099	NP_079375	Q2NKJ3	CTC1_HUMAN			5	850	-			264					B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Missense_Mutation	SNP	ENST00000315684.8	37	c.791A>T	CCDS42259.1	.	.	.	.	.	.	.	.	.	.	T	12.41	1.928753	0.34002	.	.	ENSG00000178971	ENST00000315684;ENST00000449476	D;D	0.84730	-1.89;-1.89	4.82	4.82	0.62117	.	0.077293	0.50627	D	0.000110	D	0.90559	0.7041	M	0.70595	2.14	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.91120	0.4929	10	0.72032	D	0.01	-17.6356	10.9532	0.47343	0.0:0.0:0.0:1.0	.	264	Q2NKJ3	CTC1_HUMAN	L	264;229	ENSP00000313759:Q264L;ENSP00000396018:Q229L	ENSP00000313759:Q264L	Q	-	2	0	CTC1	8081419	1.000000	0.71417	1.000000	0.80357	0.069000	0.16628	2.211000	0.42825	2.151000	0.67156	0.329000	0.21502	CAG		0.498	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099	Missense_Mutation	58	37	0	0	0	0.00361	0	58	37				
ARHGEF15	22899	broad.mit.edu	37	17	8222370	8222370	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:8222370C>A	ENST00000361926.3	+	13	2189	c.2079C>A	c.(2077-2079)gtC>gtA	p.V693V	AC135178.7_ENST00000458568.1_RNA|ARHGEF15_ENST00000582060.1_Intron|ARHGEF15_ENST00000421050.1_Silent_p.V693V	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	693					negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GCTCCCTGGTCCAGGCCCAGC	0.647																																							uc002glc.2		NA																	0				ovary(2)|skin(1)	3						c.(2077-2079)GTC>GTA		Rho guanine exchange factor 15							76.0	80.0	79.0					17																	8222370		2203	4300	6503	SO:0001819	synonymous_variant	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8222370C>A	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.2079C>A	17.37:g.8222370C>A						ARHGEF15_uc002gld.2_Silent_p.V693V|ARHGEF15_uc010vuw.1_Silent_p.V582V	p.V693V	NM_173728	NP_776089	O94989	ARHGF_HUMAN			13	2200	+			693					A8K6G1|Q8N449|Q9H8B4	Silent	SNP	ENST00000361926.3	37	c.2079C>A	CCDS11139.1																																																																																				0.647	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		60	30	1	0	2.2129e-31	0.00361	3.94081e-31	60	30				
MYH10	4628	broad.mit.edu	37	17	8448782	8448782	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:8448782C>T	ENST00000269243.4	-	12	1523	c.1385G>A	c.(1384-1386)gGa>gAa	p.G462E	MYH10_ENST00000360416.3_Missense_Mutation_p.G472E|RN7SL129P_ENST00000479993.2_RNA|MYH10_ENST00000396239.1_Missense_Mutation_p.G462E|MYH10_ENST00000379980.4_Missense_Mutation_p.G478E	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	462	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						AATTTCAAATCCAGCAATATC	0.433																																							uc002gll.2		NA																	0				ovary(2)	2						c.(1384-1386)GGA>GAA		myosin, heavy polypeptide 10, non-muscle							108.0	100.0	103.0					17																	8448782		2203	4300	6503	SO:0001583	missense	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8448782C>T	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.1385G>A	17.37:g.8448782C>T	ENSP00000269243:p.Gly462Glu					MYH10_uc002glm.2_Missense_Mutation_p.G472E|MYH10_uc010cnx.2_Missense_Mutation_p.G471E	p.G462E	NM_005964	NP_005955	P35580	MYH10_HUMAN			12	1481	-			462			Myosin head-like.		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	c.1385G>A	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.884405	0.91814	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.99737	-3.1;-3.1;-6.59;-3.1	5.0	5.0	0.66597	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.99896	0.9950	H	0.99937	4.99	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95948	0.8952	10	0.87932	D	0	.	18.844	0.92196	0.0:1.0:0.0:0.0	.	471;472;462	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	E	462;472;462;478	ENSP00000269243:G462E;ENSP00000353590:G472E;ENSP00000379539:G462E;ENSP00000369315:G478E	ENSP00000269243:G462E	G	-	2	0	MYH10	8389507	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.564000	0.82326	2.745000	0.94114	0.655000	0.94253	GGA		0.433	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			23	66	0	0	0	0.00278	0	23	66				
MYH13	8735	broad.mit.edu	37	17	10233706	10233706	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:10233706C>A	ENST00000418404.3	-	20	2596	c.2433G>T	c.(2431-2433)agG>agT	p.R811S	RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.R811S			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	811	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGTGTCACCTCCTCTCCATCA	0.537																																							uc002gmk.1		NA																	0				ovary(4)|skin(2)	6						c.(2431-2433)AGG>AGT		myosin, heavy polypeptide 13, skeletal muscle							94.0	97.0	96.0					17																	10233706		2201	4299	6500	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10233706C>A	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.2433G>T	17.37:g.10233706C>A	ENSP00000404570:p.Arg811Ser						p.R811S	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			21	2523	-			811			IQ.		O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.2433G>T	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.732782	0.30684	.	.	ENSG00000006788	ENST00000252172;ENST00000418404	T	0.73047	-0.71	4.1	-0.159	0.13379	.	.	.	.	.	T	0.79311	0.4424	M	0.93638	3.44	0.34256	D	0.679357	B	0.23937	0.094	B	0.38296	0.27	T	0.79787	-0.1656	9	0.87932	D	0	.	8.2911	0.31958	0.0:0.3667:0.0:0.6333	.	811	Q9UKX3	MYH13_HUMAN	S	811;486	ENSP00000252172:R811S	ENSP00000252172:R811S	R	-	3	2	MYH13	10174431	0.001000	0.12720	0.998000	0.56505	0.633000	0.38033	-1.485000	0.02314	-0.068000	0.12953	-0.251000	0.11542	AGG		0.537	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		24	12	1	0	7.63505e-26	0.002445	1.33255e-25	24	12				
MYH8	4626	broad.mit.edu	37	17	10302883	10302883	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:10302883C>A	ENST00000403437.2	-	28	3933	c.3839G>T	c.(3838-3840)aGa>aTa	p.R1280I	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1280					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CAGGCGCGCTCTCTGTGCTGT	0.468									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																														uc002gmm.2		NA																	0				skin(6)|ovary(3)|breast(2)	11						c.(3838-3840)AGA>ATA		myosin, heavy chain 8, skeletal muscle,							136.0	128.0	131.0					17																	10302883		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10302883C>A		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.3839G>T	17.37:g.10302883C>A	ENSP00000384330:p.Arg1280Ile					uc002gml.1_Intron	p.R1280I	NM_002472	NP_002463	P13535	MYH8_HUMAN			28	3934	-			1280			Potential.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.3839G>T	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.559136	0.65538	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.79454	-1.27	5.38	1.13	0.20643	Myosin tail (1);	0.000000	0.45606	U	0.000355	T	0.73321	0.3572	M	0.69248	2.105	0.51482	D	0.999922	B	0.18610	0.029	B	0.19666	0.026	T	0.71041	-0.4707	10	0.87932	D	0	.	10.8737	0.46899	0.0:0.6758:0.0:0.3242	.	1280	P13535	MYH8_HUMAN	I	1280	ENSP00000384330:R1280I	ENSP00000252173:R1280I	R	-	2	0	MYH8	10243608	0.037000	0.19845	0.458000	0.27068	0.686000	0.39977	0.202000	0.17295	0.415000	0.25817	0.655000	0.94253	AGA		0.468	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		13	138	1	0	6.81908e-15	0.00245	1.0486e-14	13	138				
MYH4	4622	broad.mit.edu	37	17	10357003	10357003	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:10357003G>A	ENST00000255381.2	-	23	3001	c.2891C>T	c.(2890-2892)aCa>aTa	p.T964I	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	964					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTTGGCCAGTGTCAGCTCAAG	0.413																																							uc002gmn.2		NA																	0				ovary(10)|skin(2)|central_nervous_system(1)	13						c.(2890-2892)ACA>ATA		myosin, heavy polypeptide 4, skeletal muscle							281.0	262.0	269.0					17																	10357003		2203	4298	6501	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10357003G>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.2891C>T	17.37:g.10357003G>A	ENSP00000255381:p.Thr964Ile					uc002gml.1_Intron	p.T964I	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			23	3002	-			964			Potential.			Missense_Mutation	SNP	ENST00000255381.2	37	c.2891C>T	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.464166	0.84425	.	.	ENSG00000141048	ENST00000255381	D	0.87809	-2.3	5.81	5.81	0.92471	.	0.000000	0.38436	U	0.001684	D	0.93644	0.7970	M	0.78916	2.43	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.92350	0.5889	10	0.45353	T	0.12	.	20.4375	0.99097	0.0:0.0:1.0:0.0	.	964	Q9Y623	MYH4_HUMAN	I	964	ENSP00000255381:T964I	ENSP00000255381:T964I	T	-	2	0	MYH4	10297728	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.701000	0.98710	2.906000	0.99361	0.655000	0.94253	ACA		0.413	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		38	277	0	0	0	0.009718	0	38	277				
MYH2	4620	broad.mit.edu	37	17	10429960	10429960	+	Nonsense_Mutation	SNP	G	G	T	rs1042076		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:10429960G>T	ENST00000245503.5	-	30	4527	c.4143C>A	c.(4141-4143)taC>taA	p.Y1381*	MYH2_ENST00000532183.2_Intron|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Nonsense_Mutation_p.Y1381*|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1381					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CGTCCGTCTCGTATTTGGTCC	0.532																																							uc010coi.2		NA																	0				ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(4141-4143)TAC>TAA		myosin heavy chain IIa							195.0	179.0	185.0					17																	10429960		2203	4300	6503	SO:0001587	stop_gained	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10429960G>T		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.4143C>A	17.37:g.10429960G>T	ENSP00000245503:p.Tyr1381*					uc002gml.1_Intron|MYH2_uc002gmp.3_Nonsense_Mutation_p.Y1381*|MYH2_uc010coj.2_Intron	p.Y1381*	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			30	4271	-			1381			Potential.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Nonsense_Mutation	SNP	ENST00000245503.5	37	c.4143C>A	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	G	43	9.874342	0.99285	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	.	.	.	5.2	-8.8	0.00817	.	0.000000	0.35903	U	0.002911	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.9591	0.92671	0.7139:0.0:0.2861:0.0	.	.	.	.	X	1381	.	ENSP00000245503:Y1381X	Y	-	3	2	MYH2	10370685	0.000000	0.05858	0.474000	0.27266	0.942000	0.58702	-1.853000	0.01666	-1.710000	0.01397	-1.743000	0.00684	TAC		0.532	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		16	210	1	0	1.40151e-16	0.010504	2.2385e-16	16	210				
ZNF287	57336	broad.mit.edu	37	17	16455682	16455682	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:16455682A>G	ENST00000395824.1	-	6	2391	c.1774T>C	c.(1774-1776)Tat>Cat	p.Y592H	ZNF287_ENST00000395825.3_Missense_Mutation_p.Y592H			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	585					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		TTACATATATAGGATTTCTCT	0.378																																							uc002gqi.2		NA																	0					0						c.(1774-1776)TAT>CAT		zinc finger protein 287							58.0	60.0	59.0					17																	16455682		2202	4300	6502	SO:0001583	missense	57336				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:16455682A>G	AF217227	CCDS11179.2	17p11.2	2013-01-09			ENSG00000141040	ENSG00000141040		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13502	protein-coding gene	gene with protein product							Standard	NM_020653		Approved	ZKSCAN13, ZSCAN45	uc002gqi.2	Q9HBT7	OTTHUMG00000058993	ENST00000395824.1:c.1774T>C	17.37:g.16455682A>G	ENSP00000379168:p.Tyr592His						p.Y592H	NM_020653	NP_065704	Q9HBT7	ZN287_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.083)	6	2227	-			585			C2H2-type 9.		Q6IAG1	Missense_Mutation	SNP	ENST00000395824.1	37	c.1774T>C	CCDS11179.2	.	.	.	.	.	.	.	.	.	.	A	16.06	3.015422	0.54468	.	.	ENSG00000141040	ENST00000395825;ENST00000395824	T;T	0.15017	2.46;2.46	5.04	3.96	0.45880	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45867	D	0.000334	T	0.18045	0.0433	L	0.53561	1.675	0.27609	N	0.94872	B	0.26483	0.15	B	0.29353	0.101	T	0.14671	-1.0464	10	0.72032	D	0.01	.	9.2638	0.37627	0.9141:0.0:0.0859:0.0	.	585	Q9HBT7	ZN287_HUMAN	H	592	ENSP00000379169:Y592H;ENSP00000379168:Y592H	ENSP00000379168:Y592H	Y	-	1	0	ZNF287	16396407	0.733000	0.28132	0.889000	0.34880	0.971000	0.66376	6.065000	0.71176	1.044000	0.40200	0.459000	0.35465	TAT		0.378	ZNF287-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130504.1			35	41	0	0	0	0.00874	0	35	41				
ZNF287	57336	broad.mit.edu	37	17	16466476	16466476	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:16466476T>A	ENST00000395824.1	-	5	1316	c.699A>T	c.(697-699)ttA>ttT	p.L233F	ZNF287_ENST00000395825.3_Missense_Mutation_p.L233F			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	226					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		TAGGGCCTTCTAAAATTTCTT	0.358																																							uc002gqi.2		NA																	0					0						c.(697-699)TTA>TTT		zinc finger protein 287							80.0	84.0	83.0					17																	16466476		2203	4300	6503	SO:0001583	missense	57336				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:16466476T>A	AF217227	CCDS11179.2	17p11.2	2013-01-09			ENSG00000141040	ENSG00000141040		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13502	protein-coding gene	gene with protein product							Standard	NM_020653		Approved	ZKSCAN13, ZSCAN45	uc002gqi.2	Q9HBT7	OTTHUMG00000058993	ENST00000395824.1:c.699A>T	17.37:g.16466476T>A	ENSP00000379168:p.Leu233Phe						p.L233F	NM_020653	NP_065704	Q9HBT7	ZN287_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.083)	5	1152	-			226			KRAB.		Q6IAG1	Missense_Mutation	SNP	ENST00000395824.1	37	c.699A>T	CCDS11179.2	.	.	.	.	.	.	.	.	.	.	T	10.17	1.277722	0.23307	.	.	ENSG00000141040	ENST00000395825;ENST00000395824	T;T	0.06849	3.25;3.25	4.59	3.51	0.40186	Krueppel-associated box (1);	0.181881	0.26899	N	0.021922	T	0.07324	0.0185	L	0.28694	0.88	0.25487	N	0.98768	P	0.44627	0.839	P	0.46758	0.526	T	0.18650	-1.0330	10	0.11182	T	0.66	.	7.1771	0.25751	0.0:0.0988:0.0:0.9012	.	226	Q9HBT7	ZN287_HUMAN	F	233	ENSP00000379169:L233F;ENSP00000379168:L233F	ENSP00000379168:L233F	L	-	3	2	ZNF287	16407201	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.361000	0.34136	1.076000	0.40961	0.528000	0.53228	TTA		0.358	ZNF287-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130504.1			31	21	0	0	0	0.004878	0	31	21				
SMCR8	140775	broad.mit.edu	37	17	18220322	18220322	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:18220322C>T	ENST00000406438.3	+	1	1699	c.1219C>T	c.(1219-1221)Cca>Tca	p.P407S	TOP3A_ENST00000542570.1_5'Flank|TOP3A_ENST00000321105.5_5'Flank|TOP3A_ENST00000582230.1_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	407						nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						AGAAGAATGCCCAATTCCTAA	0.468																																							uc002gsy.3		NA																	0				central_nervous_system(1)	1						c.(1219-1221)CCA>TCA		Smith-Magenis syndrome chromosome region,							105.0	100.0	102.0					17																	18220322		2203	4300	6503	SO:0001583	missense	140775							g.chr17:18220322C>T	AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994			17921	protein-coding gene	gene with protein product						11997338, 23248642	Standard	NM_144775		Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.1219C>T	17.37:g.18220322C>T	ENSP00000385025:p.Pro407Ser						p.P407S	NM_144775	NP_658988	Q8TEV9	SMCR8_HUMAN			1	1729	+			407					A5PKZ5|Q3ZCN0|Q6PJL3	Missense_Mutation	SNP	ENST00000406438.3	37	c.1219C>T	CCDS11195.2	.	.	.	.	.	.	.	.	.	.	C	1.335	-0.595820	0.03771	.	.	ENSG00000176994	ENST00000406438	T	0.22945	1.93	6.03	4.01	0.46588	.	0.879542	0.10085	N	0.717959	T	0.23249	0.0562	L	0.59436	1.845	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41378	-0.9512	10	0.09338	T	0.73	-13.7043	8.1915	0.31370	0.0:0.6273:0.2414:0.1312	.	407	Q8TEV9	SMCR8_HUMAN	S	407	ENSP00000385025:P407S	ENSP00000385025:P407S	P	+	1	0	SMCR8	18161047	0.000000	0.05858	0.499000	0.27577	0.991000	0.79684	0.896000	0.28377	0.859000	0.35456	0.655000	0.94253	CCA		0.468	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2	NM_144775		13	37	0	0	0	0.00245	0	13	37				
LGALS9C	654346	broad.mit.edu	37	17	18392294	18392294	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:18392294G>A	ENST00000328114.6	+	5	565	c.484G>A	c.(484-486)Gtg>Atg	p.V162M	LGALS9C_ENST00000584941.1_Intron|LGALS9C_ENST00000412421.2_Missense_Mutation_p.V74M|LGALS9C_ENST00000583322.1_Intron|LGALS9C_ENST00000581545.1_Intron	NM_001040078.2	NP_001035167.2	Q6DKI2	LEG9C_HUMAN	lectin, galactoside-binding, soluble, 9C	162							carbohydrate binding (GO:0030246)			NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	7						CTTCTCCACGGTGCCGTTCTC	0.597																																							uc002gtw.2		NA																	0				ovary(1)	1						c.(484-486)GTG>ATG		galectin 9 like							61.0	49.0	53.0					17																	18392294		2176	4050	6226	SO:0001583	missense	654346						sugar binding	g.chr17:18392294G>A		CCDS32587.1	17p11.2	2011-08-04			ENSG00000171916	ENSG00000171916		"""Lectins, galactoside-binding"""	33874	protein-coding gene	gene with protein product							Standard	NM_001040078		Approved		uc002gtw.3	Q6DKI2	OTTHUMG00000059251	ENST00000328114.6:c.484G>A	17.37:g.18392294G>A	ENSP00000329932:p.Val162Met					LGALS9C_uc010vyb.1_Missense_Mutation_p.V74M	p.V162M	NM_001040078	NP_001035167	Q6DKI2	LEG9C_HUMAN			5	554	+			162					B0AZM7	Missense_Mutation	SNP	ENST00000328114.6	37	c.484G>A	CCDS32587.1	.	.	.	.	.	.	.	.	.	.	g	7.024	0.559207	0.13436	.	.	ENSG00000171916	ENST00000412421;ENST00000328114	T;T	0.04917	3.53;3.79	3.14	-6.27	0.02026	.	1.605790	0.03275	N	0.185316	T	0.03651	0.0104	N	0.14661	0.345	0.09310	N	1	B	0.18610	0.029	B	0.12837	0.008	T	0.38757	-0.9646	10	0.34782	T	0.22	.	5.7606	0.18199	0.2494:0.143:0.6075:0.0	.	162	Q6DKI2	LEG9C_HUMAN	M	74;162	ENSP00000390286:V74M;ENSP00000329932:V162M	ENSP00000329932:V162M	V	+	1	0	LGALS9C	18333019	0.000000	0.05858	0.000000	0.03702	0.071000	0.16799	-1.286000	0.02788	-1.507000	0.01803	0.195000	0.17529	GTG		0.597	LGALS9C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000131456.2	NM_001040078		4	67	0	0	0	0.000602	0	4	67				
MAP2K3	5606	broad.mit.edu	37	17	21207773	21207773	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:21207773G>T	ENST00000342679.4	+	8	853	c.604G>T	c.(604-606)Ggc>Tgc	p.G202C	MAP2K3_ENST00000316920.6_Missense_Mutation_p.G173C|MAP2K3_ENST00000361818.5_Missense_Mutation_p.G173C	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	202	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		CAACAAGGAGGGCCATGTGAA	0.577																																							uc002gys.2		NA																	0					0						c.(604-606)GGC>TGC		mitogen-activated protein kinase kinase 3							305.0	199.0	235.0					17																	21207773		2203	4300	6503	SO:0001583	missense	5606				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:21207773G>T	L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152		"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6843	protein-coding gene	gene with protein product	"""MAPK/ERK kinase 3"", ""MAP kinase kinase 3"", ""dual specificity mitogen activated protein kinase kinase 3"""	602315		PRKMK3		9465908	Standard	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.604G>T	17.37:g.21207773G>T	ENSP00000345083:p.Gly202Cys					MAP2K3_uc002gyt.2_Missense_Mutation_p.G173C|MAP2K3_uc002gyu.2_Missense_Mutation_p.G173C	p.G202C	NM_145109	NP_659731	P46734	MP2K3_HUMAN		COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)	8	869	+			202			Protein kinase.		B3KSK7|Q99441|Q9UE71|Q9UE72	Missense_Mutation	SNP	ENST00000342679.4	37	c.604G>T	CCDS11217.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.749306	0.89753	.	.	ENSG00000034152	ENST00000342679;ENST00000395491;ENST00000361818;ENST00000316920	T;T	0.50001	0.76;0.76	4.87	4.87	0.63330	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	T	0.75302	0.3831	M	0.90145	3.09	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82067	-0.0641	10	0.87932	D	0	-35.735	18.0327	0.89290	0.0:0.0:1.0:0.0	.	202	P46734	MP2K3_HUMAN	C	202;173;173;206	ENSP00000345083:G202C;ENSP00000355081:G173C	ENSP00000319139:G206C	G	+	1	0	MAP2K3	21148366	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.851000	0.86920	2.242000	0.73789	0.563000	0.77884	GGC		0.577	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259374.2	NM_145109		26	95	1	0	2.41591e-17	0.004656	3.89638e-17	26	95				
KCNJ12	3768	broad.mit.edu	37	17	21318894	21318894	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:21318894G>T	ENST00000583088.1	+	3	1135	c.240G>T	c.(238-240)tgG>tgT	p.W80C	KCNJ12_ENST00000331718.5_Missense_Mutation_p.W80C	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	80					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	ACATCCGCTGGCGGTACATGC	0.572										Prostate(3;0.18)																													uc002gyv.1		NA																	0				ovary(3)|skin(1)	4						c.(238-240)TGG>TGT		potassium inwardly-rectifying channel, subfamily	Dofetilide(DB00204)						205.0	126.0	153.0					17																	21318894		2203	4300	6503	SO:0001583	missense	3768				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity	g.chr17:21318894G>T	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.240G>T	17.37:g.21318894G>T	ENSP00000463778:p.Trp80Cys	Prostate(3;0.18)					p.W80C	NM_021012	NP_066292	Q14500	IRK12_HUMAN		Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	945	+			80			Cytoplasmic (By similarity).		O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	c.240G>T	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	G	19.90	3.912290	0.72983	.	.	ENSG00000184185	ENST00000331718	D	0.97620	-4.46	5.33	5.33	0.75918	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.000000	0.85682	D	0.000000	D	0.99127	0.9699	H	0.97635	4.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99100	1.0843	10	0.87932	D	0	.	19.026	0.92932	0.0:0.0:1.0:0.0	.	80	Q14500	IRK12_HUMAN	C	80	ENSP00000328150:W80C	ENSP00000328150:W80C	W	+	3	0	KCNJ12	21259487	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.690000	0.98676	2.506000	0.84524	0.591000	0.81541	TGG		0.572	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		13	73	1	0	3.70931e-20	0.006122	6.14911e-20	13	73				
TIAF1	9220	broad.mit.edu	37	17	27401991	27401991	+	De_novo_Start_InFrame	SNP	C	C	T	rs558720346	byFrequency	TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:27401991C>T	ENST00000359450.6	-	0	3884				MYO18A_ENST00000533112.1_Intron|MYO18A_ENST00000529578.1_Intron|MYO18A_ENST00000354329.4_Intron|MYO18A_ENST00000531253.1_Intron|TIAF1_ENST00000408971.2_Intron|MYO18A_ENST00000527372.1_Intron	NM_004740.3	NP_004731.2	O95411	TIAF1_HUMAN	TGFB1-induced anti-apoptotic factor 1						apoptotic process (GO:0006915)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of apoptotic process (GO:0043066)	nucleus (GO:0005634)				kidney(1)|lung(1)|urinary_tract(1)	3	Lung NSC(42;0.015)		Epithelial(11;1.19e-05)|all cancers(11;6.57e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000153)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TAAGCACGCACGCCTTTGGTT	0.507													C|||	2	0.000399361	0.0	0.0	5008	,	,		20413	0.0		0.0	False		,,,				2504	0.002						uc002hdv.1		NA																	0					0						c.(-775--771)GCGTG>GCATG		TGFB1-induced anti-apoptotic factor 1																																						9220				anti-apoptosis|apoptosis|I-kappaB kinase/NF-kappaB cascade	nucleus		g.chr17:27401991C>T	AF105277	CCDS32599.1	17q11.2	2006-08-07				ENSG00000221995			11803	protein-coding gene	gene with protein product		609517				9918798	Standard	NM_004740		Approved		uc002hdv.1	O95411			17.37:g.27401991C>T						MYO18A_uc010wbc.1_Intron|MYO18A_uc002hds.2_Intron|MYO18A_uc010csa.1_Intron|MYO18A_uc002hdt.1_Intron|MYO18A_uc002hdu.1_Intron		NM_004740	NP_004731	O95411	TIAF1_HUMAN	Epithelial(11;1.19e-05)|all cancers(11;6.57e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000153)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		1	637	-	Lung NSC(42;0.015)							A2RRE2|Q6PEG2	Translation_Start_Site	SNP	ENST00000359450.6	37	c.-773G>A	CCDS32599.1																																																																																				0.507	TIAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372394.2	NM_004740		6	23	0	0	0	0.001168	0	6	23				
SSH2	85464	broad.mit.edu	37	17	27958224	27958225	+	Nonsense_Mutation	DNP	CC	CC	AA			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:27958224_27958225CC>AA	ENST00000269033.3	-	15	4057_4058	c.3906_3907GG>TT	c.(3904-3909)atGGag>atTTag	p.1302_1303ME>I*	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Nonsense_Mutation_p.1329_1330ME>I*	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	1302					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCTTGGTCCTCCATCGCGTGCA	0.525																																							uc002heo.1		NA																	0				skin(2)	2						c.(3904-3909)ATGGAG>ATTTAG		slingshot 2																																				SO:0001587	stop_gained	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27958224_27958225CC>AA	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.3906_3907delinsAA	17.37:g.27958224_27958225delinsAA	ENSP00000269033:p.M1302_E1303delinsI*					SSH2_uc010wbh.1_Nonsense_Mutation_p.1329_1330ME>I*	p.1302_1303ME>I*	NM_033389	NP_203747	Q76I76	SSH2_HUMAN			15	3906_3907	-			1302_1303					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Nonsense_Mutation	DNP	ENST00000269033.3	37	c.3906_3907GG>TT	CCDS11253.1																																																																																				0.525	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		15	55	0	0	0	0.004672	0	15	55				
NSRP1	84081	broad.mit.edu	37	17	28506291	28506291	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:28506291G>C	ENST00000247026.5	+	5	547	c.484G>C	c.(484-486)Gaa>Caa	p.E162Q	NSRP1_ENST00000540900.3_3'UTR	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN	nuclear speckle splicing regulatory protein 1	162	Necessary for alternative splicing activity.				developmental process (GO:0032502)|mRNA processing (GO:0006397)|nucleocytoplasmic transport (GO:0006913)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						AGAAGAAAGAGAAAAGAGGGC	0.428																																							uc002heu.2		NA																	0					0						c.(484-486)GAA>CAA		coiled-coil domain containing 55 isoform 1							25.0	27.0	27.0					17																	28506291		2185	4294	6479	SO:0001583	missense	84081				developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding	g.chr17:28506291G>C	AL136806	CCDS11255.1, CCDS74025.1	17q11.2	2011-05-24	2011-05-24	2011-05-24	ENSG00000126653	ENSG00000126653			25305	protein-coding gene	gene with protein product			"""coiled-coil domain containing 55"""	CCDC55		11230166	Standard	NM_032141		Approved	DKFZP434K1421, NSrp70	uc002heu.4	Q9H0G5	OTTHUMG00000132754	ENST00000247026.5:c.484G>C	17.37:g.28506291G>C	ENSP00000247026:p.Glu162Gln					CCDC55_uc002hev.2_Missense_Mutation_p.E108Q|CCDC55_uc010wbl.1_Missense_Mutation_p.E108Q|CCDC55_uc010wbm.1_Missense_Mutation_p.E108Q|CCDC55_uc002hex.2_Missense_Mutation_p.E108Q	p.E162Q	NM_032141	NP_115517	Q9H0G5	NSRP1_HUMAN			5	512	+			162			Necessary for alternative splicing activity.|Potential.		Q6FI71	Missense_Mutation	SNP	ENST00000247026.5	37	c.484G>C	CCDS11255.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.840964	0.91197	.	.	ENSG00000126653	ENST00000247026;ENST00000540900;ENST00000394826	T	0.56444	0.46	5.29	5.29	0.74685	Domain of unknown function DUF2040 (1);	0.000000	0.85682	D	0.000000	T	0.75474	0.3854	M	0.84219	2.685	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	T	0.79155	-0.1920	10	0.66056	D	0.02	-16.7751	17.9478	0.89044	0.0:0.0:1.0:0.0	.	162	Q9H0G5	NSRP1_HUMAN	Q	162;93;108	ENSP00000247026:E162Q	ENSP00000247026:E162Q	E	+	1	0	NSRP1	25530417	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	8.724000	0.91462	2.468000	0.83385	0.591000	0.81541	GAA		0.428	NSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256121.2	NM_032141		12	15	0	0	0	0.001855	0	12	15				
ATAD5	79915	broad.mit.edu	37	17	29171879	29171879	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:29171879C>G	ENST00000321990.4	+	6	2773	c.2395C>G	c.(2395-2397)Ctt>Gtt	p.L799V	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	799					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TCCTTTATTTCTTGTCAGAAA	0.313																																							uc002hfs.1		NA																	0				ovary(3)	3						c.(2395-2397)CTT>GTT		ATPase family, AAA domain containing 5							58.0	66.0	63.0					17																	29171879		2203	4299	6502	SO:0001583	missense	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29171879C>G		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.2395C>G	17.37:g.29171879C>G	ENSP00000313171:p.Leu799Val					ATAD5_uc002hft.1_Missense_Mutation_p.L696V	p.L799V	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN			6	2741	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	799					Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	c.2395C>G	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	C	10.20	1.285916	0.23478	.	.	ENSG00000176208	ENST00000321990	D	0.86432	-2.12	5.74	2.51	0.30379	.	0.974151	0.08444	N	0.945057	D	0.83036	0.5167	L	0.52364	1.645	0.29837	N	0.829534	P;P	0.42518	0.782;0.726	B;B	0.43413	0.419;0.305	T	0.72017	-0.4417	10	0.16420	T	0.52	.	6.2815	0.21009	0.1379:0.655:0.1334:0.0738	.	799;799	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	V	799	ENSP00000313171:L799V	ENSP00000313171:L799V	L	+	1	0	ATAD5	26196005	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	1.077000	0.30741	0.828000	0.34709	0.650000	0.86243	CTT		0.313	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		21	62	0	0	0	0.00632	0	21	62				
NF1	4763	broad.mit.edu	37	17	29677323	29677323	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:29677323G>A	ENST00000358273.4	+	50	7827	c.7444G>A	c.(7444-7446)Gac>Aac	p.D2482N	NF1_ENST00000444181.2_Missense_Mutation_p.D275N|NF1_ENST00000417592.2_Missense_Mutation_p.D195N|NF1_ENST00000356175.3_Missense_Mutation_p.D2461N	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2482					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCATCATGGTGACCCTTCCTA	0.363			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													uc002hgg.2		NA	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		11	Whole gene deletion(8)|Unknown(3)		soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330						c.(7444-7446)GAC>AAC		neurofibromin isoform 1							108.0	97.0	101.0					17																	29677323		2203	4300	6503	SO:0001583	missense	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29677323G>A		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.7444G>A	17.37:g.29677323G>A	ENSP00000351015:p.Asp2482Asn	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.2_Missense_Mutation_p.D2461N|NF1_uc010cso.2_Missense_Mutation_p.D670N|NF1_uc010wbt.1_Silent_p.V12V|NF1_uc010wbu.1_RNA	p.D2482N	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	50	7777	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	2482					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.7444G>A	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.130884	0.77549	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735;ENST00000444181;ENST00000417592	T;T;T;T	0.54071	3.03;3.19;2.87;0.59	5.47	4.5	0.54988	Armadillo-type fold (1);	0.100164	0.64402	N	0.000003	T	0.44603	0.1301	L	0.40543	1.245	0.50171	D	0.999853	B;B	0.27498	0.003;0.18	B;B	0.24848	0.006;0.056	T	0.37934	-0.9684	10	0.45353	T	0.12	.	13.9621	0.64188	0.0732:0.0:0.9268:0.0	.	2461;2482	P21359-2;P21359	.;NF1_HUMAN	N	2482;2461;2127;275;195	ENSP00000351015:D2482N;ENSP00000348498:D2461N;ENSP00000389907:D2127N;ENSP00000396481:D275N	ENSP00000348498:D2461N	D	+	1	0	NF1	26701449	1.000000	0.71417	0.985000	0.45067	0.732000	0.41865	5.937000	0.70162	1.302000	0.44855	0.563000	0.77884	GAC		0.363	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		14	57	0	0	0	0.003163	0	14	57				
RFFL	117584	broad.mit.edu	37	17	33348688	33348688	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:33348688C>A	ENST00000315249.7	-	3	515	c.293G>T	c.(292-294)cGa>cTa	p.R98L	RFFL_ENST00000415395.2_Missense_Mutation_p.R98L|RFFL_ENST00000584655.1_Missense_Mutation_p.R98L|RFFL_ENST00000447669.2_Missense_Mutation_p.R98L|RFFL_ENST00000394597.2_Missense_Mutation_p.R98L|RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000268850.7_Missense_Mutation_p.R98L|RFFL_ENST00000378516.2_Missense_Mutation_p.R98L|RFFL_ENST00000413582.2_Missense_Mutation_p.R98L					ring finger and FYVE-like domain containing E3 ubiquitin protein ligase											kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		GAGCTCCTCTCGCTGAAAGGC	0.517																																							uc002hin.1		NA																	0					0						c.(292-294)CGA>CTA		rififylin							88.0	85.0	86.0					17																	33348688		2203	4300	6503	SO:0001583	missense	117584				apoptosis	membrane	ligase activity|zinc ion binding	g.chr17:33348688C>A	AF434816	CCDS11286.1	17q12	2012-02-23	2012-02-23		ENSG00000092871	ENSG00000092871		"""RING-type (C3HC4) zinc fingers"""	24821	protein-coding gene	gene with protein product		609735	"""ring finger and FYVE-like domain containing"""			15229288	Standard	NR_037713		Approved	rififylin, fring, RNF189, RNF34L	uc002hin.1	Q8WZ73	OTTHUMG00000132933	ENST00000315249.7:c.293G>T	17.37:g.33348688C>A	ENSP00000326170:p.Arg98Leu					RFFL_uc002hiq.2_Intron|RFFL_uc002him.1_Missense_Mutation_p.R98L|RFFL_uc010cti.1_Missense_Mutation_p.R104L|RFFL_uc002hip.1_Missense_Mutation_p.R98L|RFFL_uc002hio.1_Missense_Mutation_p.R98L	p.R98L	NM_001017368	NP_001017368	Q8WZ73	RFFL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	3	466	-		Ovarian(249;0.17)	98						Missense_Mutation	SNP	ENST00000315249.7	37	c.293G>T	CCDS11286.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.680677	0.88542	.	.	ENSG00000092871	ENST00000315249;ENST00000394597;ENST00000378516;ENST00000268850;ENST00000413582;ENST00000415395;ENST00000414419	T;T;T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19	5.65	3.68	0.42216	Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.86573	0.5965	M	0.78344	2.41	0.80722	D	1	D;D;D;D	0.89917	0.998;0.998;1.0;0.998	D;D;D;D	0.91635	0.994;0.994;0.999;0.994	D	0.86755	0.1963	10	0.59425	D	0.04	-19.1408	11.5816	0.50894	0.0:0.8577:0.0:0.1423	.	98;98;98;98	C9JN73;Q8WZ73-3;Q8WZ73;Q8WZ73-2	.;.;RFFL_HUMAN;.	L	98	ENSP00000326170:R98L;ENSP00000378096:R98L;ENSP00000367777:R98L;ENSP00000268850:R98L;ENSP00000408513:R98L;ENSP00000412322:R98L;ENSP00000395090:R98L	ENSP00000268850:R98L	R	-	2	0	RFFL	30372801	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.932000	0.70121	0.953000	0.37825	-0.136000	0.14681	CGA		0.517	RFFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256460.2	NM_057178		35	42	1	0	4.32679e-17	0.006999	6.9481e-17	35	42				
FNDC8	54752	broad.mit.edu	37	17	33454165	33454165	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:33454165C>A	ENST00000158009.5	+	2	429	c.314C>A	c.(313-315)cCc>cAc	p.P105H		NM_017559.2	NP_060029.1	Q8TC99	FNDC8_HUMAN	fibronectin type III domain containing 8	105						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)		GTGACCCAGCCCAACAGCAGC	0.552																																							uc002hix.2		NA																	0				ovary(2)	2						c.(313-315)CCC>CAC		fibronectin type III domain containing 8							139.0	141.0	140.0					17																	33454165		2203	4300	6503	SO:0001583	missense	54752							g.chr17:33454165C>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.314C>A	17.37:g.33454165C>A	ENSP00000158009:p.Pro105His						p.P105H	NM_017559	NP_060029	Q8TC99	FNDC8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.022)	2	396	+		Ovarian(249;0.17)	105					B2R9G6|Q9UFC2	Missense_Mutation	SNP	ENST00000158009.5	37	c.314C>A	CCDS11290.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.966813	0.74131	.	.	ENSG00000073598	ENST00000158009	T	0.57107	0.42	5.38	5.38	0.77491	.	0.000000	0.49305	D	0.000159	T	0.60663	0.2286	L	0.27053	0.805	0.41207	D	0.98641	D	0.89917	1.0	D	0.87578	0.998	T	0.63910	-0.6530	10	0.87932	D	0	-22.9556	14.5032	0.67737	0.0:1.0:0.0:0.0	.	105	Q8TC99	FNDC8_HUMAN	H	105	ENSP00000158009:P105H	ENSP00000158009:P105H	P	+	2	0	FNDC8	30478278	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.295000	0.51794	2.794000	0.96219	0.655000	0.94253	CCC		0.552	FNDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256459.2	NM_017559		67	119	1	0	1.25089e-41	0.00361	2.29638e-41	67	119				
CCL14	6358	broad.mit.edu	37	17	34311469	34311469	+	Silent	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:34311469T>A	ENST00000394509.4	-	2	207	c.99A>T	c.(97-99)tcA>tcT	p.S33S	CCL14_ENST00000480944.2_Silent_p.S55S|CCL15-CCL14_ENST00000481427.2_3'UTR|CCL14_ENST00000586216.1_Silent_p.S33S|CCL14_ENST00000536149.1_Silent_p.S49S|CTB-186H2.3_ENST00000593057.1_Intron|CTB-186H2.3_ENST00000591669.1_5'Flank|CCL16_ENST00000293275.3_5'Flank|CCL14_ENST00000435911.2_Silent_p.S49S			Q16627	CCL14_HUMAN	chemokine (C-C motif) ligand 14	33					cell chemotaxis (GO:0060326)|cellular calcium ion homeostasis (GO:0006874)|immune response (GO:0006955)|positive regulation of cell proliferation (GO:0008284)	extracellular space (GO:0005615)				large_intestine(1)|lung(6)	7		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGCAGCACTCTGAGGGGTGGT	0.552																																							uc010wcr.1		NA																	0					0						c.(97-99)TCA>TCT		chemokine (C-C motif) ligand 14 isoform 1							92.0	84.0	87.0					17																	34311469		2203	4300	6503	SO:0001819	synonymous_variant	6358				cellular calcium ion homeostasis|immune response|positive regulation of cell proliferation	extracellular space	chemokine activity|signal transducer activity	g.chr17:34311469T>A	Z49270	CCDS32624.1, CCDS45652.1	17q11.2	2014-04-10	2002-08-22	2002-08-23	ENSG00000213494	ENSG00000276409		"""Chemokine ligands"", ""Endogenous ligands"""	10612	protein-coding gene	gene with protein product		601392	"""small inducible cytokine subfamily A (Cys-Cys), member 14"""	SCYA14		8661057	Standard	NM_032963		Approved	HCC-1, HCC-3, NCC-2, SCYL2, CKb1, MCIF	uc010wcq.1	Q16627	OTTHUMG00000188403	ENST00000394509.4:c.99A>T	17.37:g.34311469T>A						CCL16_uc002hkl.2_5'Flank|CCL16_uc002hkm.2_5'Flank|CCL14_uc010wcq.1_Silent_p.S49S|CCL14_uc002hkn.2_RNA|CCL14-CCL15_uc010wcs.1_RNA|CCL14-CCL15_uc010wct.1_RNA|uc002hkq.2_5'Flank	p.S33S	NM_032963	NP_116739	Q16627	CCL14_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	178	-		Ovarian(249;0.17)	33					E1P649|E1P650|Q13954	Silent	SNP	ENST00000394509.4	37	c.99A>T	CCDS32624.1																																																																																				0.552	CCL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272892.2	NM_032962		19	39	0	0	0	0.010504	0	19	39				
PLXDC1	57125	broad.mit.edu	37	17	37234203	37234203	+	Silent	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:37234203G>C	ENST00000315392.4	-	11	1360	c.1149C>G	c.(1147-1149)acC>acG	p.T383T	PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000539608.1_3'UTR|PLXDC1_ENST00000444911.2_Silent_p.T343T|CTD-2206N4.4_ENST00000583447.1_RNA	NM_020405.4	NP_065138.2	Q8IUK5	PLDX1_HUMAN	plexin domain containing 1	383					angiogenesis (GO:0001525)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)	receptor activity (GO:0004872)			kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						GGGAGGAGGAGGTAGTGGTGA	0.597																																							uc002hrg.2		NA																	0				ovary(1)|kidney(1)|skin(1)	3						c.(1147-1149)ACC>ACG		plexin domain containing 1 precursor							182.0	127.0	146.0					17																	37234203		2203	4300	6503	SO:0001819	synonymous_variant	57125				angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction		g.chr17:37234203G>C	AF279144	CCDS11333.1	17q21.1	2006-04-12			ENSG00000161381	ENSG00000161381			20945	protein-coding gene	gene with protein product	"""tumor endothelial marker 7 precursor"""	606826				10947988, 11559528	Standard	NM_020405		Approved	TEM3, TEM7	uc002hrg.2	Q8IUK5	OTTHUMG00000133183	ENST00000315392.4:c.1149C>G	17.37:g.37234203G>C						uc002hre.1_Intron|uc002hrf.1_Intron|PLXDC1_uc010cvr.1_Silent_p.T91T|PLXDC1_uc002hrh.2_RNA|PLXDC1_uc002hri.2_RNA|PLXDC1_uc002hrj.1_RNA|PLXDC1_uc002hrk.1_RNA	p.T383T	NM_020405	NP_065138	Q8IUK5	PXDC1_HUMAN			11	1361	-			383			Extracellular (Potential).		B2R7I8|Q5QCZ7|Q5QCZ8|Q5QCZ9|Q9HCT9	Silent	SNP	ENST00000315392.4	37	c.1149C>G	CCDS11333.1																																																																																				0.597	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256892.2	NM_020405		21	94	0	0	0	0.003954	0	21	94				
TOP2A	7153	broad.mit.edu	37	17	38556818	38556818	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:38556818A>G	ENST00000423485.1	-	22	2920	c.2762T>C	c.(2761-2763)aTt>aCt	p.I921T		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	921					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	TGAGATTTCAATGGTTGTAGA	0.353																																							uc002huq.2		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(2761-2763)ATT>ACT		DNA topoisomerase II, alpha isozyme	Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)						94.0	80.0	84.0					17																	38556818		1823	4085	5908	SO:0001583	missense	7153				apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding	g.chr17:38556818A>G		CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"""topoisomerase (DNA) II alpha (170kD)"""	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.2762T>C	17.37:g.38556818A>G	ENSP00000411532:p.Ile921Thr						p.I921T	NM_001067	NP_001058	P11388	TOP2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.00183)		22	2888	-		Breast(137;0.00328)	921					B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Missense_Mutation	SNP	ENST00000423485.1	37	c.2762T>C	CCDS45672.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.189137	0.78789	.	.	ENSG00000131747	ENST00000423485;ENST00000269577;ENST00000348049;ENST00000357601	T	0.27104	1.69	5.31	5.31	0.75309	DNA topoisomerase, type IIA, subunit A/C-terminal (2);Arginine repressor, C-terminal (1);DNA topoisomerase, type IIA, central (1);	0.000000	0.85682	D	0.000000	T	0.55000	0.1893	M	0.88979	2.995	0.80722	D	1	D	0.53151	0.958	P	0.60541	0.876	T	0.64841	-0.6312	10	0.87932	D	0	.	15.556	0.76192	1.0:0.0:0.0:0.0	.	921	P11388	TOP2A_HUMAN	T	921;1001;944;957	ENSP00000411532:I921T	ENSP00000269577:I1001T	I	-	2	0	TOP2A	35810344	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.245000	0.95431	2.146000	0.66826	0.533000	0.62120	ATT		0.353	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1			8	11	0	0	0	0.006214	0	8	11				
KRT31	3881	broad.mit.edu	37	17	39551870	39551870	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:39551870G>T	ENST00000251645.2	-	4	646	c.594C>A	c.(592-594)gtC>gtA	p.V198V		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	198	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				GCAGGGTATTGACCTCCTATG	0.488																																							uc002hwn.2		NA																	0					0						c.(592-594)GTC>GTA		keratin 31							59.0	55.0	56.0					17																	39551870		2203	4300	6503	SO:0001819	synonymous_variant	3881				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39551870G>T	X86570	CCDS11391.1	17q21.2	2014-05-20	2006-07-17	2006-07-17	ENSG00000094796	ENSG00000094796		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6448	protein-coding gene	gene with protein product	"""hard keratin type I 1"""	601077	"""keratin, hair, acidic, 1"""	KRTHA1		7578244, 16831889	Standard	NM_002277		Approved	Ha-1	uc002hwn.3	Q15323	OTTHUMG00000133423	ENST00000251645.2:c.594C>A	17.37:g.39551870G>T						KRT31_uc010cxn.2_Silent_p.V198V	p.V198V	NM_002277	NP_002268	Q15323	K1H1_HUMAN			4	647	-		Breast(137;0.000496)	198			Rod.|Coil 1B.		Q9UE12	Silent	SNP	ENST00000251645.2	37	c.594C>A	CCDS11391.1																																																																																				0.488	KRT31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257286.1	NM_002277		5	46	1	0	0.000157383	0.00308	0.000177026	5	46				
KRT38	8687	broad.mit.edu	37	17	39595035	39595035	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:39595035T>A	ENST00000246646.3	-	4	807	c.808A>T	c.(808-810)Aac>Tac	p.N270Y		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	270	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				AGCACCCTGTTCAGGTCAATG	0.587																																							uc002hwq.1		NA																	0				skin(2)	2						c.(808-810)AAC>TAC		keratin 38							141.0	136.0	138.0					17																	39595035		2203	4300	6503	SO:0001583	missense	8687					intermediate filament	structural molecule activity	g.chr17:39595035T>A	Y16794	CCDS11392.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000171360	ENSG00000171360		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6456	protein-coding gene	gene with protein product		604542	"""keratin, hair, acidic, 8"""	KRTHA8		9756910, 16831889	Standard	NM_006771		Approved		uc002hwq.1	O76015	OTTHUMG00000133439	ENST00000246646.3:c.808A>T	17.37:g.39595035T>A	ENSP00000246646:p.Asn270Tyr						p.N270Y	NM_006771	NP_006762	O76015	KRT38_HUMAN			4	1231	-		Breast(137;0.000496)	270			Coil 2.|Rod.		A2RRM5|Q6A164	Missense_Mutation	SNP	ENST00000246646.3	37	c.808A>T	CCDS11392.1	.	.	.	.	.	.	.	.	.	.	T	11.58	1.679692	0.29783	.	.	ENSG00000171360	ENST00000246646	D	0.89123	-2.47	4.27	-0.462	0.12168	Filament (1);	0.614836	0.15336	N	0.267747	D	0.92133	0.7506	M	0.92077	3.27	0.09310	N	1	P	0.43633	0.813	P	0.51055	0.657	D	0.85668	0.1293	10	0.87932	D	0	.	5.5206	0.16931	0.0:0.337:0.2501:0.4129	.	270	O76015	KRT38_HUMAN	Y	270	ENSP00000246646:N270Y	ENSP00000246646:N270Y	N	-	1	0	KRT38	36848561	0.000000	0.05858	0.126000	0.21872	0.394000	0.30568	-0.646000	0.05403	-0.308000	0.08792	0.454000	0.30748	AAC		0.587	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257307.2	NM_006771		38	206	0	0	0	0.002522	0	38	206				
KRT36	8689	broad.mit.edu	37	17	39646024	39646024	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:39646024G>A	ENST00000328119.6	-	1	92	c.93C>T	c.(91-93)atC>atT	p.I31I	KRT36_ENST00000393986.2_Intron	NM_003771.4	NP_003762.1	O76013	KRT36_HUMAN	keratin 36	31	Head.				regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of epidermis (GO:0030280)			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				CCACAGAACGGATGGAGGACA	0.637																																							uc002hwt.2		NA																	0					0						c.(91-93)ATC>ATT		keratin 36							47.0	51.0	50.0					17																	39646024		2203	4300	6503	SO:0001819	synonymous_variant	8689					intermediate filament	protein binding|structural constituent of epidermis	g.chr17:39646024G>A	Y16792	CCDS11395.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000126337	ENSG00000126337		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6454	protein-coding gene	gene with protein product		604540	"""keratin, hair, acidic, 6"""	KRTHA6		9756910, 16831889	Standard	XM_005257762		Approved		uc002hwt.3	O76013	OTTHUMG00000133431	ENST00000328119.6:c.93C>T	17.37:g.39646024G>A							p.I31I	NM_003771	NP_003762	O76013	KRT36_HUMAN			1	93	-		Breast(137;0.000286)	31			Head.		Q86XG4	Silent	SNP	ENST00000328119.6	37	c.93C>T	CCDS11395.1																																																																																				0.637	KRT36-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259508.1	NM_003771		12	62	0	0	0	0.00245	0	12	62				
KRT17	3872	broad.mit.edu	37	17	39780443	39780443	+	Missense_Mutation	SNP	C	C	T	rs150004075	byFrequency	TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:39780443C>T	ENST00000311208.8	-	1	386	c.319G>A	c.(319-321)Gag>Aag	p.E107K	KRT42P_ENST00000438131.1_RNA|JUP_ENST00000540235.1_Intron	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	107	Coil 1A.|Peptide epitope S1; induces T-cell and keratinocyte proliferation and IFN-gamma production.|Rod.			Missing (in Ref. 5; AAH72018). {ECO:0000305}.	epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinization (GO:0031424)|morphogenesis of an epithelium (GO:0002009)|positive regulation of cell growth (GO:0030307)|positive regulation of hair follicle development (GO:0051798)|positive regulation of translation (GO:0045727)|signal transduction (GO:0007165)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	MHC class II protein binding (GO:0042289)|MHC class II receptor activity (GO:0032395)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				GTGTTGGCCTCCTCCAGGGCA	0.622													c|||	5	0.000998403	0.0008	0.0	5008	,	,		15820	0.0		0.003	False		,,,				2504	0.001				Pancreas(92;1242 2086 39193 50508)	Pancreas(92;1242 2086 39193 50508)	uc002hxh.2		NA																	0				ovary(1)|skin(1)	2						c.(319-321)GAG>AAG		keratin 17		C	LYS/GLU	3,4403	6.2+/-15.9	0,3,2200	103.0	112.0	109.0		319	4.9	1.0	17	dbSNP_134	109	15,8585	11.2+/-40.8	0,15,4285	no	missense	KRT17	NM_000422.2	56	0,18,6485	TT,TC,CC		0.1744,0.0681,0.1384	benign	107/433	39780443	18,12988	2203	4300	6503	SO:0001583	missense	3872	Steatocystoma_Multiplex			epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39780443C>T	X62571	CCDS11402.1	17q21.2	2014-06-12			ENSG00000128422	ENSG00000128422		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6427	protein-coding gene	gene with protein product		148069		PCHC1		7539673, 1281771, 16831889	Standard	NM_000422		Approved		uc002hxh.2	Q04695	OTTHUMG00000133505	ENST00000311208.8:c.319G>A	17.37:g.39780443C>T	ENSP00000308452:p.Glu107Lys					JUP_uc010wfs.1_Intron|KRT17_uc010wft.1_Missense_Mutation_p.E107K	p.E107K	NM_000422	NP_000413	Q04695	K1C17_HUMAN			1	440	-		Breast(137;0.000307)	107	Missing (in Ref. 5; AAH72018).		Coil 1A.|Peptide epitope S1; induces T-cell and keratinocyte proliferation and IFN-gamma production.|Rod.		A5Z1M9|A5Z1N0|A5Z1N1|A5Z1N2|A6NDV6|A6NKQ2|Q6IP98|Q8N1P6	Missense_Mutation	SNP	ENST00000311208.8	37	c.319G>A	CCDS11402.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	14.37	2.515279	0.44763	6.81E-4	0.001744	ENSG00000128422	ENST00000311208	D	0.88818	-2.43	4.9	4.9	0.64082	Filament (1);	0.000000	0.47852	D	0.000219	D	0.84710	0.5532	L	0.31578	0.945	0.80722	D	1	B	0.16603	0.018	B	0.24006	0.05	T	0.79838	-0.1634	10	0.41790	T	0.15	.	18.6277	0.91347	0.0:1.0:0.0:0.0	.	107	Q04695	K1C17_HUMAN	K	107	ENSP00000308452:E107K	ENSP00000308452:E107K	E	-	1	0	KRT17	37033969	0.926000	0.31397	1.000000	0.80357	0.835000	0.47333	0.168000	0.16622	2.702000	0.92279	0.462000	0.41574	GAG		0.622	KRT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257460.1	NM_000422		32	243	0	0	0	0.004289	0	32	243				
FKBP10	60681	broad.mit.edu	37	17	39975577	39975577	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:39975577C>T	ENST00000321562.4	+	5	947	c.843C>T	c.(841-843)cgC>cgT	p.R281R	FKBP10_ENST00000544340.1_5'UTR	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	281					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		GCTGTGTCCGCAGAGCCGGGG	0.632																																							uc002hxv.2		NA																	0				ovary(1)	1						c.(841-843)CGC>CGT		FK506 binding protein 10 precursor							48.0	56.0	53.0					17																	39975577		2202	4300	6502	SO:0001819	synonymous_variant	60681				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr17:39975577C>T	AB045981	CCDS11409.1	17q21.2	2014-09-17	2002-08-29		ENSG00000141756	ENSG00000141756		"""EF-hand domain containing"""	18169	protein-coding gene	gene with protein product		607063	"""FK506 binding protein 10 (65 kDa)"""			11071917, 18786928	Standard	NM_021939		Approved	hFKBP65, FLJ22041, FKBP6, FLJ20683, FLJ23833	uc002hxv.2	Q96AY3	OTTHUMG00000133497	ENST00000321562.4:c.843C>T	17.37:g.39975577C>T						FKBP10_uc002hxw.1_5'UTR	p.R281R	NM_021939	NP_068758	Q96AY3	FKB10_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.148)	5	1168	+		Breast(137;0.00122)	281					Q7Z3R4|Q9H3N3|Q9H6J3|Q9H6N5|Q9UF89	Silent	SNP	ENST00000321562.4	37	c.843C>T	CCDS11409.1	.	.	.	.	.	.	.	.	.	.	C	5.944	0.358211	0.11239	.	.	ENSG00000141756	ENST00000455106	.	.	.	5.55	1.0	0.19881	.	.	.	.	.	T	0.58807	0.2148	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53760	-0.8393	4	.	.	.	-11.546	10.6704	0.45755	0.1497:0.6112:0.2391:0.0	.	.	.	.	V	24	.	.	A	+	2	0	FKBP10	37229103	1.000000	0.71417	0.965000	0.40720	0.283000	0.27025	1.158000	0.31737	0.292000	0.22492	-1.083000	0.02208	GCA		0.632	FKBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257410.2	NM_021939		32	79	0	0	0	0.003755	0	32	79				
GHDC	84514	broad.mit.edu	37	17	40344963	40344963	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:40344963G>A	ENST00000301671.8	-	3	789	c.348C>T	c.(346-348)ccC>ccT	p.P116P	GHDC_ENST00000414034.3_Silent_p.P116P|GHDC_ENST00000590520.1_5'Flank|GHDC_ENST00000593209.1_Silent_p.P116P|GHDC_ENST00000428494.2_Intron|GHDC_ENST00000436923.2_Silent_p.P116P|GHDC_ENST00000587427.1_Silent_p.P116P			Q8N2G8	GHDC_HUMAN	GH3 domain containing	116						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		TTGAGGTCGGGGGCAGTGGCT	0.592																																							uc002hzd.2		NA																	0					0						c.(346-348)CCC>CCT		LGP1 homolog isoform 1							113.0	128.0	123.0					17																	40344963		2203	4300	6503	SO:0001819	synonymous_variant	84514					endoplasmic reticulum|nuclear envelope		g.chr17:40344963G>A	AF316997, BC011056	CCDS11422.1, CCDS45682.1	17q21.2	2006-08-02				ENSG00000167925			24438	protein-coding gene	gene with protein product		608587				11161808, 11735219	Standard	NR_024573		Approved	LGP1	uc002hzf.4	Q8N2G8		ENST00000301671.8:c.348C>T	17.37:g.40344963G>A						GHDC_uc002hzg.1_Silent_p.P116P|GHDC_uc010wgg.1_Intron|GHDC_uc002hze.3_Silent_p.P116P|GHDC_uc002hzf.3_Silent_p.P116P|GHDC_uc010cxz.2_RNA	p.P116P	NM_032484	NP_115873	Q8N2G8	GHDC_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.124)	3	832	-		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)	116					B4DQS4|E9PDB5|Q9BXM6	Silent	SNP	ENST00000301671.8	37	c.348C>T	CCDS11422.1																																																																																				0.592	GHDC-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449794.1	NM_032484		39	111	0	0	0	0.006999	0	39	111				
PLEKHH3	79990	broad.mit.edu	37	17	40823471	40823471	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:40823471C>G	ENST00000591022.1	-	8	1569	c.1182G>C	c.(1180-1182)gaG>gaC	p.E394D	PLEKHH3_ENST00000293349.6_Missense_Mutation_p.E394D|PLEKHH3_ENST00000412503.1_Missense_Mutation_p.E394D|PLEKHH3_ENST00000456950.2_5'UTR	NM_024927.4	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	394	MyTH4. {ECO:0000255|PROSITE- ProRule:PRU00359}.				signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		ACGCGGAAATCTCCGCCAGCG	0.682																																							uc002iau.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(1180-1182)GAG>GAC		pleckstrin homology domain containing, family H							31.0	28.0	29.0					17																	40823471		2203	4298	6501	SO:0001583	missense	79990				signal transduction	cytoskeleton		g.chr17:40823471C>G	BC052978	CCDS11434.1	17q21.2	2013-01-11				ENSG00000068137		"""Pleckstrin homology (PH) domain containing"""	26105	protein-coding gene	gene with protein product						12477932	Standard	NM_024927		Approved	FLJ21019	uc002iau.3	Q7Z736		ENST00000591022.1:c.1182G>C	17.37:g.40823471C>G	ENSP00000468678:p.Glu394Asp					PLEKHH3_uc010cyl.1_RNA|PLEKHH3_uc002iat.1_RNA|PLEKHH3_uc002iav.2_RNA|PLEKHH3_uc010cym.1_Intron|PLEKHH3_uc002iaw.2_Missense_Mutation_p.E394D	p.E394D	NM_024927	NP_079203	Q7Z736	PKHH3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.14)	8	1649	-		Breast(137;0.00116)	394			MyTH4.		C9JQ76|Q59H20|Q96B28|Q9H7D6|Q9NT18	Missense_Mutation	SNP	ENST00000591022.1	37	c.1182G>C	CCDS11434.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.509630	0.85282	.	.	ENSG00000068137	ENST00000456950;ENST00000293349;ENST00000412503	D;D	0.95412	-3.7;-3.7	4.7	3.73	0.42828	MyTH4 domain (2);	0.000000	0.43747	D	0.000533	D	0.97353	0.9134	M	0.80183	2.485	0.45718	D	0.998624	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.97507	1.0064	10	0.87932	D	0	-15.8334	12.6949	0.56997	0.0:0.9186:0.0:0.0814	.	394;394	Q7Z736-2;Q7Z736	.;PKHH3_HUMAN	D	56;394;394	ENSP00000293349:E394D;ENSP00000411885:E394D	ENSP00000293349:E394D	E	-	3	2	PLEKHH3	38076997	1.000000	0.71417	0.998000	0.56505	0.629000	0.37895	3.340000	0.52143	0.981000	0.38548	-0.254000	0.11334	GAG		0.682	PLEKHH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452332.1	NM_024927		12	20	0	0	0	0.001855	0	12	20				
RAMP2	10266	broad.mit.edu	37	17	40914379	40914379	+	Missense_Mutation	SNP	C	C	A	rs369493002		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:40914379C>A	ENST00000253796.5	+	3	238	c.170C>A	c.(169-171)aCg>aAg	p.T57K	RAMP2-AS1_ENST00000592670.1_lincRNA|RAMP2_ENST00000587142.1_Missense_Mutation_p.T62K|RAMP2_ENST00000589683.1_5'UTR|RAMP2_ENST00000588576.1_Intron	NM_005854.2	NP_005845.2	O60895	RAMP2_HUMAN	receptor (G protein-coupled) activity modifying protein 2	57					adherens junction assembly (GO:0034333)|angiogenesis (GO:0001525)|basement membrane assembly (GO:0070831)|calcium ion transport (GO:0006816)|cAMP biosynthetic process (GO:0006171)|cellular response to hormone stimulus (GO:0032870)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|heart development (GO:0007507)|intracellular protein transport (GO:0006886)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of vascular permeability (GO:0043116)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of gene expression (GO:0010628)|positive regulation of vasculogenesis (GO:2001214)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of blood pressure (GO:0008217)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|sprouting angiogenesis (GO:0002040)|tight junction assembly (GO:0070830)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|protein transporter activity (GO:0008565)			endometrium(2)|lung(1)|stomach(1)	4		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0741)	Pramlintide(DB01278)	ACAGGGGGGACGGTGAAGAAC	0.498																																							uc002ibg.2		NA																	0					0						c.(169-171)ACG>AAG		receptor activity modifying protein 2 precursor	Pramlintide(DB01278)						144.0	139.0	141.0					17																	40914379		2203	4300	6503	SO:0001583	missense	10266				intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	coated pit|integral to plasma membrane|lysosome	protein transporter activity	g.chr17:40914379C>A	AJ001015	CCDS11437.1	17q12-q21.1	2012-08-17	2006-11-21		ENSG00000131477	ENSG00000131477		"""Receptor (G protein-coupled) activity modifying proteins"""	9844	protein-coding gene	gene with protein product		605154	"""receptor activity modifying protein 2"", ""receptor (calcitonin) activity modifying protein 2"""				Standard	NM_005854		Approved		uc002ibg.3	O60895		ENST00000253796.5:c.170C>A	17.37:g.40914379C>A	ENSP00000253796:p.Thr57Lys					LOC100190938_uc002ibd.1_5'Flank|LOC100190938_uc002ibe.3_5'Flank|LOC100190938_uc002ibf.3_5'Flank|RAMP2_uc010cyt.2_Missense_Mutation_p.T62K|RAMP2_uc002ibh.2_Intron	p.T57K	NM_005854	NP_005845	O60895	RAMP2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0741)	3	238	+		Breast(137;0.000143)	57			Extracellular (Potential).		A7L9S6|K7EMD3|Q8N1F2	Missense_Mutation	SNP	ENST00000253796.5	37	c.170C>A	CCDS11437.1	.	.	.	.	.	.	.	.	.	.	C	3.269	-0.149504	0.06585	.	.	ENSG00000131477	ENST00000253796	T	0.20881	2.04	4.41	-6.26	0.02033	.	1.909200	0.02446	N	0.085081	T	0.07728	0.0194	N	0.04959	-0.14	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.06405	0.001;0.002	T	0.34453	-0.9828	10	0.05525	T	0.97	-52.674	7.0027	0.24820	0.1346:0.2178:0.0:0.6476	.	62;57	E7EM49;O60895	.;RAMP2_HUMAN	K	57	ENSP00000253796:T57K	ENSP00000253796:T57K	T	+	2	0	RAMP2	38167905	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.013000	0.03645	-1.218000	0.02601	-0.424000	0.05967	ACG		0.498	RAMP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452380.1	NM_005854		74	124	1	0	4.00701e-44	0.00361	7.38343e-44	74	124				
MPP2	4355	broad.mit.edu	37	17	41958884	41958884	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:41958884C>T	ENST00000461854.1	-	8	912	c.827G>A	c.(826-828)cGc>cAc	p.R276H	MPP2_ENST00000536246.1_Missense_Mutation_p.R241H|MPP2_ENST00000520305.1_Missense_Mutation_p.R113H|MPP2_ENST00000377184.3_Missense_Mutation_p.R269H|MPP2_ENST00000269095.4_Missense_Mutation_p.R252H|MPP2_ENST00000523501.1_Missense_Mutation_p.R241H|MPP2_ENST00000473246.1_5'Flank|MPP2_ENST00000518766.1_Missense_Mutation_p.R297H			Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	276	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		GGCGTTGAAGCGCAGGCCTGC	0.587																																							uc010wip.1		NA																	0					0						c.(889-891)CGC>CAC		palmitoylated membrane protein 2							79.0	72.0	74.0					17																	41958884		2203	4300	6503	SO:0001583	missense	4355				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity	g.chr17:41958884C>T		CCDS11471.1, CCDS62206.1, CCDS62207.1, CCDS62208.1, CCDS62209.1, CCDS62210.1	17q12-q21	2008-07-18			ENSG00000108852	ENSG00000108852			7220	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 2"", ""discs large, homolog 2"""	600723		DLG2		7590743	Standard	NM_001278370		Approved	DKFZp761D0712	uc002ieo.1	Q14168	OTTHUMG00000133840	ENST00000461854.1:c.827G>A	17.37:g.41958884C>T	ENSP00000428286:p.Arg276His					MPP2_uc002ien.1_Missense_Mutation_p.R269H|MPP2_uc010wim.1_Missense_Mutation_p.R241H|MPP2_uc002ieo.1_Missense_Mutation_p.R252H|MPP2_uc010win.1_Missense_Mutation_p.R113H|MPP2_uc010wio.1_Missense_Mutation_p.R241H	p.R297H	NM_005374	NP_005365	Q14168	MPP2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.12)	7	947	-		Breast(137;0.00314)	276			SH3.		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000461854.1	37	c.890G>A		.	.	.	.	.	.	.	.	.	.	c	20.1	3.938865	0.73557	.	.	ENSG00000108852	ENST00000377184;ENST00000269095;ENST00000461854;ENST00000520305;ENST00000523501;ENST00000536246;ENST00000518766	T;T;T;T;T;T;T	0.08546	3.08;3.08;3.08;3.08;3.08;3.08;3.08	5.1	3.12	0.35913	.	.	.	.	.	T	0.10423	0.0255	L	0.28556	0.865	0.33498	D	0.589626	D;P	0.61697	0.99;0.931	P;P	0.53760	0.734;0.52	T	0.22661	-1.0210	9	0.72032	D	0.01	.	5.5007	0.16827	0.0:0.6632:0.1625:0.1743	.	297;269	E7EV80;Q14168-3	.;.	H	269;252;276;113;241;241;297	ENSP00000366389:R269H;ENSP00000269095:R252H;ENSP00000428286:R276H;ENSP00000428136:R113H;ENSP00000430540:R241H;ENSP00000438012:R241H;ENSP00000428182:R297H	ENSP00000269095:R252H	R	-	2	0	MPP2	39314410	0.000000	0.05858	0.961000	0.40146	0.985000	0.73830	0.565000	0.23578	0.751000	0.32900	0.555000	0.69702	CGC		0.587	MPP2-003	KNOWN	non_canonical_polymorphism|basic	protein_coding	protein_coding	OTTHUMT00000258388.2	NM_005374		50	61	0	0	0	0.00361	0	50	61				
GRN	2896	broad.mit.edu	37	17	42429545	42429545	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:42429545A>G	ENST00000053867.3	+	11	1404	c.1342A>G	c.(1342-1344)Acc>Gcc	p.T448A	GRN_ENST00000589265.1_Missense_Mutation_p.T291A	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	448					blastocyst hatching (GO:0001835)|cell death (GO:0008219)|embryo implantation (GO:0007566)|positive regulation of epithelial cell proliferation (GO:0050679)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	growth factor activity (GO:0008083)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TGACCAGCACACCAGCTGCCC	0.667																																							uc002igp.1		NA																	0				ovary(2)|central_nervous_system(2)|skin(1)	5						c.(1342-1344)ACC>GCC		granulin precursor							56.0	58.0	57.0					17																	42429545		2202	4298	6500	SO:0001583	missense	2896				signal transduction	extracellular space	cytokine activity|growth factor activity	g.chr17:42429545A>G	M75161	CCDS11483.1	17q21.32	2014-09-17				ENSG00000030582			4601	protein-coding gene	gene with protein product	"""progranulin"""	138945				1417868, 9826678	Standard	XM_005257253		Approved	PCDGF, PGRN, CLN11	uc002igp.1	P28799		ENST00000053867.3:c.1342A>G	17.37:g.42429545A>G	ENSP00000053867:p.Thr448Ala					GRN_uc002igr.1_Missense_Mutation_p.T242A	p.T448A	NM_002087	NP_002078	P28799	GRN_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	11	1561	+		Prostate(33;0.0181)	448					D3DX55|P23781|P23782|P23783|P23784|Q53HQ8|Q53Y88|Q540U8|Q9BWE7|Q9H8S1|Q9UCH0	Missense_Mutation	SNP	ENST00000053867.3	37	c.1342A>G	CCDS11483.1	.	.	.	.	.	.	.	.	.	.	A	12.79	2.042428	0.35989	.	.	ENSG00000030582	ENST00000053867;ENST00000393566	D	0.82433	-1.61	5.3	4.23	0.50019	Granulin (1);	0.711573	0.13554	N	0.379295	T	0.71929	0.3398	L	0.38838	1.175	0.27347	N	0.956356	B;B	0.22851	0.076;0.019	B;B	0.19666	0.016;0.026	T	0.56792	-0.7920	10	0.15952	T	0.53	-7.4971	6.7084	0.23264	0.8163:0.0:0.1837:0.0	.	385;448	B4DJI2;P28799	.;GRN_HUMAN	A	448;268	ENSP00000053867:T448A	ENSP00000053867:T448A	T	+	1	0	GRN	39785071	0.000000	0.05858	1.000000	0.80357	0.919000	0.55068	0.400000	0.20932	0.866000	0.35629	0.459000	0.35465	ACC		0.667	GRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457766.1	NM_002087		24	113	0	0	0	0.007291	0	24	113				
GPATCH8	23131	broad.mit.edu	37	17	42475031	42475031	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:42475031C>G	ENST00000591680.1	-	8	4444	c.4414G>C	c.(4414-4416)Gct>Cct	p.A1472P	GPATCH8_ENST00000434000.1_Missense_Mutation_p.A1394P	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1472	Poly-Ala.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GCTGCTGCAGCAGGCCGTGGA	0.602																																							uc002igw.1		NA																	0				ovary(2)|kidney(1)|skin(1)	4						c.(4414-4416)GCT>CCT		G patch domain containing 8							71.0	62.0	65.0					17																	42475031		2203	4300	6503	SO:0001583	missense	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42475031C>G	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.4414G>C	17.37:g.42475031C>G	ENSP00000467556:p.Ala1472Pro					GPATCH8_uc002igv.1_Missense_Mutation_p.A1394P|GPATCH8_uc010wiz.1_Missense_Mutation_p.A1394P	p.A1472P	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	8	4478	-		Prostate(33;0.0181)	1472			Poly-Ala.		B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	ENST00000591680.1	37	c.4414G>C	CCDS32666.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.859141	0.51376	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.15017	2.46	5.34	5.34	0.76211	.	0.231054	0.36101	N	0.002791	T	0.34395	0.0896	L	0.43152	1.355	0.44871	D	0.997886	D	0.89917	1.0	D	0.69307	0.963	T	0.01121	-1.1445	10	0.34782	T	0.22	-10.8248	18.6369	0.91382	0.0:1.0:0.0:0.0	.	1472	Q9UKJ3	GPTC8_HUMAN	P	1472;1394	ENSP00000395016:A1394P	ENSP00000335486:A1472P	A	-	1	0	GPATCH8	39830557	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	3.778000	0.55371	2.512000	0.84698	0.313000	0.20887	GCT		0.602	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		6	43	0	0	0	0.001984	0	6	43				
HOXB5	3215	broad.mit.edu	37	17	46669576	46669576	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:46669576G>C	ENST00000239151.5	-	2	1083	c.805C>G	c.(805-807)Ccc>Gcc	p.P269A	HOXB-AS3_ENST00000474040.1_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000467155.2_RNA|HOXB3_ENST00000498678.1_5'Flank|HOXB3_ENST00000460160.1_5'Flank|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000476342.1_5'Flank|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB3_ENST00000472863.1_5'Flank	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN	homeobox B5	269					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell differentiation (GO:0045446)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			large_intestine(1)|lung(2)	3						CGGGCTCAGGGCTGGAAGGCG	0.657																																							uc002inr.2		NA																	0					0						c.(805-807)CCC>GCC		homeobox B5							41.0	45.0	44.0					17																	46669576		2203	4300	6503	SO:0001583	missense	3215					nucleus	sequence-specific DNA binding	g.chr17:46669576G>C		CCDS11530.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120075	ENSG00000120075		"""Homeoboxes / ANTP class : HOXL subclass"""	5116	protein-coding gene	gene with protein product		142960	"""homeo box B5"""	HOX2, HOX2A		1973146, 1358459	Standard	NM_002147		Approved		uc002inr.3	P09067	OTTHUMG00000159913	ENST00000239151.5:c.805C>G	17.37:g.46669576G>C	ENSP00000239151:p.Pro269Ala					HOXB3_uc010wlm.1_5'Flank|HOXB3_uc010dbf.2_5'Flank|HOXB3_uc010dbg.2_5'Flank	p.P269A	NM_002147	NP_002138	P09067	HXB5_HUMAN			2	864	-			269					B2RC69|P09069|Q17RP4	Missense_Mutation	SNP	ENST00000239151.5	37	c.805C>G	CCDS11530.1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.148530	0.57151	.	.	ENSG00000120075	ENST00000239151	D	0.96041	-3.89	5.19	5.19	0.71726	.	0.115754	0.56097	D	0.000026	D	0.96494	0.8856	L	0.48986	1.54	0.48901	D	0.99972	D	0.76494	0.999	D	0.63033	0.91	D	0.95740	0.8782	9	.	.	.	.	19.0837	0.93194	0.0:0.0:1.0:0.0	.	269	P09067	HXB5_HUMAN	A	269	ENSP00000239151:P269A	.	P	-	1	0	HOXB5	44024575	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.354000	0.59417	2.585000	0.87301	0.563000	0.77884	CCC		0.657	HOXB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358148.2			15	50	0	0	0	0.004007	0	15	50				
TTLL6	284076	broad.mit.edu	37	17	46868950	46868950	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:46868950G>A	ENST00000393382.3	-	9	1155	c.1014C>T	c.(1012-1014)ttC>ttT	p.F338F	TTLL6_ENST00000433608.2_Silent_p.F31F	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						AGTATGCACTGAAGGTGGAGA	0.557											OREG0024526	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc010wlo.1		NA																	0					0						c.(1012-1014)TTC>TTT		tubulin tyrosine ligase-like family, member 6							206.0	149.0	168.0					17																	46868950		2203	4300	6503	SO:0001819	synonymous_variant	284076					cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr17:46868950G>A	AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"""Tubulin tyrosine ligase-like family"""	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.1014C>T	17.37:g.46868950G>A			OREG0024526	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	942	TTLL6_uc002iob.2_Silent_p.F31F|TTLL6_uc010dbi.2_RNA|TTLL6_uc002ioc.2_Silent_p.F91F|TTLL6_uc002iod.2_Silent_p.F185F	p.F338F	NM_001130918	NP_001124390	Q8N841	TTLL6_HUMAN			10	1049	-			290			TTL.			Silent	SNP	ENST00000393382.3	37	c.1014C>T	CCDS45724.1																																																																																				0.557	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346939.3	NM_173623		26	41	0	0	0	0.007291	0	26	41				
COL1A1	1277	broad.mit.edu	37	17	48275559	48275559	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:48275559G>C	ENST00000225964.5	-	7	669	c.551C>G	c.(550-552)tCt>tGt	p.S184C		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	184	Triple-helical region.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	ACGAGGACCAGAGGGACCCTA	0.562			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta				OREG0024560	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002iqm.2		NA		Dom	yes		17	17q21.31-q22	1277	T	"""collagen, type I, alpha 1"""	yes	Osteogenesis imperfecta	M	PDGFB|USP6		dermatofibrosarcoma protuberans|aneurysmal bone cyst 	COL1A1/PDGFB(372)	0				soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382						c.(550-552)TCT>TGT		alpha 1 type I collagen preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						56.0	61.0	59.0					17																	48275559		2203	4291	6494	SO:0001583	missense	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48275559G>C	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.551C>G	17.37:g.48275559G>C	ENSP00000225964:p.Ser184Cys		OREG0024560	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	953		p.S184C	NM_000088	NP_000079	P02452	CO1A1_HUMAN			7	677	-			184			Triple-helical region.		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Missense_Mutation	SNP	ENST00000225964.5	37	c.551C>G	CCDS11561.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.401884	0.42613	.	.	ENSG00000108821	ENST00000225964	D	0.93712	-3.27	5.13	5.13	0.70059	.	0.133715	0.47093	D	0.000255	D	0.93288	0.7861	L	0.52011	1.625	0.29836	N	0.829618	P	0.35272	0.493	P	0.48166	0.569	D	0.91005	0.4845	10	0.52906	T	0.07	.	11.2694	0.49129	0.0854:0.0:0.9146:0.0	.	184	P02452	CO1A1_HUMAN	C	184	ENSP00000225964:S184C	ENSP00000225964:S184C	S	-	2	0	COL1A1	45630558	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.609000	0.54117	2.547000	0.85894	0.655000	0.94253	TCT		0.562	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			45	47	0	0	0	0.00361	0	45	47				
CACNA1G	8913	broad.mit.edu	37	17	48655862	48655862	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:48655862C>A	ENST00000359106.5	+	9	2238	c.2238C>A	c.(2236-2238)ggC>ggA	p.G746G	CACNA1G_ENST00000352832.5_Silent_p.G746G|CACNA1G_ENST00000507609.1_Silent_p.G746G|CACNA1G_ENST00000512389.1_Silent_p.G746G|CACNA1G_ENST00000515765.1_Silent_p.G746G|CACNA1G_ENST00000510366.1_Silent_p.G746G|CACNA1G_ENST00000513689.2_Silent_p.G746G|CACNA1G_ENST00000358244.5_Silent_p.G746G|CACNA1G_ENST00000360761.4_Silent_p.G746G|CACNA1G_ENST00000514717.1_Silent_p.G746G|CACNA1G_ENST00000354983.4_Silent_p.G746G|CACNA1G_ENST00000442258.2_Silent_p.G746G|CACNA1G_ENST00000515411.1_Silent_p.G746G|CACNA1G_ENST00000429973.2_Silent_p.G746G|CACNA1G_ENST00000513964.1_Silent_p.G746G|CACNA1G_ENST00000507896.1_Silent_p.G746G|CACNA1G_ENST00000510115.1_Silent_p.G746G|CACNA1G_ENST00000502264.1_Silent_p.G746G|CACNA1G_ENST00000514181.1_Silent_p.G746G|CACNA1G_ENST00000503485.1_Silent_p.G746G|CACNA1G_ENST00000416767.4_Silent_p.G746G|CACNA1G_ENST00000515165.1_Silent_p.G746G|CACNA1G_ENST00000514079.1_Silent_p.G746G|CACNA1G_ENST00000507336.1_Silent_p.G746G|CACNA1G_ENST00000505165.1_Silent_p.G746G|CACNA1G_ENST00000507510.2_Silent_p.G746G	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	746					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	AGTACTTTGGCCGGGGAATCA	0.582																																							uc002irk.1		NA																	0				breast(1)	1						c.(2236-2238)GGC>GGA		voltage-dependent calcium channel alpha 1G	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						75.0	78.0	77.0					17																	48655862		2046	4214	6260	SO:0001819	synonymous_variant	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48655862C>A	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.2238C>A	17.37:g.48655862C>A						CACNA1G_uc002iri.1_Silent_p.G746G|CACNA1G_uc002irj.1_Silent_p.G746G|CACNA1G_uc002irl.1_Silent_p.G746G|CACNA1G_uc002irm.1_Silent_p.G746G|CACNA1G_uc002irn.1_Silent_p.G746G|CACNA1G_uc002iro.1_Silent_p.G746G|CACNA1G_uc002irp.1_Silent_p.G746G|CACNA1G_uc002irq.1_Silent_p.G746G|CACNA1G_uc002irr.1_Silent_p.G746G|CACNA1G_uc002irs.1_Silent_p.G746G|CACNA1G_uc002irt.1_Silent_p.G746G|CACNA1G_uc002irv.1_Silent_p.G746G|CACNA1G_uc002irw.1_Silent_p.G746G|CACNA1G_uc002iru.1_Silent_p.G746G|CACNA1G_uc002irx.1_Silent_p.G659G|CACNA1G_uc002iry.1_Silent_p.G659G|CACNA1G_uc002irz.1_Silent_p.G659G|CACNA1G_uc002isa.1_Silent_p.G659G|CACNA1G_uc002isb.1_Silent_p.G659G|CACNA1G_uc002isc.1_Silent_p.G659G|CACNA1G_uc002isd.1_Silent_p.G659G|CACNA1G_uc002ise.1_Silent_p.G659G|CACNA1G_uc002isf.1_Silent_p.G659G|CACNA1G_uc002isg.1_Silent_p.G659G|CACNA1G_uc002ish.1_Silent_p.G659G|CACNA1G_uc002isi.1_Silent_p.G659G	p.G746G	NM_018896	NP_061496	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		9	2610	+	Breast(11;6.7e-17)		746			Helical; Name=S1 of repeat II; (Potential).|II.		D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Silent	SNP	ENST00000359106.5	37	c.2238C>A	CCDS45730.1																																																																																				0.582	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		34	50	1	0	4.92203e-23	0.00623	8.4127e-23	34	50				
AKAP1	8165	broad.mit.edu	37	17	55193519	55193519	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:55193519G>T	ENST00000337714.3	+	7	2562	c.2329G>T	c.(2329-2331)Gcc>Tcc	p.A777S	AKAP1_ENST00000572557.1_Missense_Mutation_p.A777S|AKAP1_ENST00000571629.1_Missense_Mutation_p.A777S|AKAP1_ENST00000539273.1_Missense_Mutation_p.A777S	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	777	Tudor. {ECO:0000255|PROSITE- ProRule:PRU00211}.				blood coagulation (GO:0007596)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					CTGGTGGCGAGCCCAAGTGGT	0.617																																							uc002iux.2		NA																	0				ovary(1)	1						c.(2329-2331)GCC>TCC		A-kinase anchor protein 1 precursor							98.0	76.0	83.0					17																	55193519		2203	4300	6503	SO:0001583	missense	8165				blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding	g.chr17:55193519G>T	X97335	CCDS11594.1	17q22	2013-01-23			ENSG00000121057	ENSG00000121057		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Tudor domain containing"""	367	protein-coding gene	gene with protein product	"""protein kinase anchoring protein 1"", ""dual specificity A-kinase-anchoring protein 1"", ""protein phosphatase 1, regulatory subunit 43"", ""tudor domain containing 17"""	602449		PRKA1		8769136, 7499250	Standard	NM_003488		Approved	AKAP121, AKAP149, SAKAP84, S-AKAP84, AKAP84, D-AKAP1, PPP1R43, TDRD17	uc002iux.3	Q92667	OTTHUMG00000140369	ENST00000337714.3:c.2329G>T	17.37:g.55193519G>T	ENSP00000337736:p.Ala777Ser					AKAP1_uc010wnl.1_Missense_Mutation_p.A777S|AKAP1_uc010dcm.2_Missense_Mutation_p.A777S	p.A777S	NM_003488	NP_003479	Q92667	AKAP1_HUMAN			7	2560	+	Breast(9;5.46e-08)		777			Tudor.		A8K8Q1|D3DTZ0|Q13320|Q9BW14	Missense_Mutation	SNP	ENST00000337714.3	37	c.2329G>T	CCDS11594.1	.	.	.	.	.	.	.	.	.	.	G	33	5.212903	0.95069	.	.	ENSG00000121057	ENST00000337714;ENST00000427138;ENST00000539273	T;T	0.23147	1.92;1.92	4.98	4.98	0.66077	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.050689	0.85682	D	0.000000	T	0.53738	0.1815	M	0.79343	2.45	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.59369	-0.7467	10	0.87932	D	0	-22.834	17.6084	0.88045	0.0:0.0:1.0:0.0	.	777	Q92667	AKAP1_HUMAN	S	777;819;777	ENSP00000337736:A777S;ENSP00000443139:A777S	ENSP00000337736:A777S	A	+	1	0	AKAP1	52548518	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.150000	0.94667	2.468000	0.83385	0.561000	0.74099	GCC		0.617	AKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277069.1			14	47	1	0	1.37285e-15	0.004007	2.15568e-15	14	47				
MPO	4353	broad.mit.edu	37	17	56355235	56355235	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:56355235G>C	ENST00000225275.3	-	7	1333	c.1157C>G	c.(1156-1158)cCc>cGc	p.P386R	MPO_ENST00000340482.3_Missense_Mutation_p.P418R|MPO_ENST00000578493.1_5'UTR	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	386					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	GAGGAGACAGGGGTCATCGTG	0.632																																							uc002ivu.1		NA																	0				ovary(2)|large_intestine(1)|pancreas(1)	4						c.(1156-1158)CCC>CGC		myeloperoxidase	Cefdinir(DB00535)						69.0	69.0	69.0					17																	56355235		2203	4300	6503	SO:0001583	missense	4353				anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	g.chr17:56355235G>C		CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.1157C>G	17.37:g.56355235G>C	ENSP00000225275:p.Pro386Arg						p.P386R	NM_000250	NP_000241	P05164	PERM_HUMAN			7	1334	-			386					A1L4B8|Q14862|Q4PJH5|Q9UCL7	Missense_Mutation	SNP	ENST00000225275.3	37	c.1157C>G	CCDS11604.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.050343	0.55218	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	T;T	0.73575	-0.76;-0.76	4.8	4.8	0.61643	.	0.111815	0.64402	D	0.000007	D	0.84915	0.5578	M	0.82056	2.57	0.48087	D	0.999587	D	0.89917	1.0	D	0.87578	0.998	D	0.85876	0.1419	10	0.62326	D	0.03	-30.8943	10.591	0.45310	0.0872:0.0:0.9128:0.0	.	386	P05164	PERM_HUMAN	R	418;386	ENSP00000344419:P418R;ENSP00000225275:P386R	ENSP00000225275:P386R	P	-	2	0	MPO	53710234	1.000000	0.71417	1.000000	0.80357	0.598000	0.36846	3.790000	0.55461	2.518000	0.84900	0.561000	0.74099	CCC		0.632	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1			38	56	0	0	0	0.003214	0	38	56				
SEPT4	5414	broad.mit.edu	37	17	56599366	56599366	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:56599366C>A	ENST00000317268.3	-	6	935	c.759G>T	c.(757-759)gtG>gtT	p.V253V	SEPT4_ENST00000579371.1_Silent_p.V154V|SEPT4_ENST00000583114.1_Silent_p.V106V|SEPT4_ENST00000393086.1_Silent_p.V234V|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000580809.1_Silent_p.V135V|SEPT4_ENST00000412945.3_Silent_p.V245V|SEPT4_ENST00000580844.1_Silent_p.V154V|SEPT4_ENST00000317256.6_Silent_p.V234V|SEPT4_ENST00000426861.1_Silent_p.V234V|SEPT4_ENST00000457347.2_Silent_p.V268V	NM_004574.3	NP_004565.1	O43236	SEPT4_HUMAN	septin 4	253	Septin-type G.				apoptotic process (GO:0006915)|brain development (GO:0007420)|cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of protein ubiquitination (GO:0031398)|regulation of apoptotic process (GO:0042981)|sperm capacitation (GO:0048240)|sperm mitochondrion organization (GO:0030382)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm annulus (GO:0097227)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGCAGCAGTGCACCCTGTTGT	0.557																																							uc002iwm.1		NA																	0					0						c.(757-759)GTG>GTT		septin 4 isoform 1							184.0	152.0	162.0					17																	56599366		2203	4300	6503	SO:0001819	synonymous_variant	5414				apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr17:56599366C>A	AF073312	CCDS11609.1, CCDS11610.1, CCDS45743.1, CCDS56041.1, CCDS58581.1, CCDS58582.1	17q22	2013-01-21	2005-01-11	2005-01-12	ENSG00000108387	ENSG00000108387		"""Septins"""	9165	protein-coding gene	gene with protein product	"""bradeoin"", ""septin-M"""	603696	"""peanut-like 2 (Drosophila)"""	PNUTL2		9889007	Standard	NM_001198713		Approved	H5, CE5B3, hucep-7, ARTS, hCDCREL-2, MART	uc002iwm.2	O43236		ENST00000317268.3:c.759G>T	17.37:g.56599366C>A						SEPT4_uc002iwk.1_Silent_p.V106V|SEPT4_uc010wnw.1_Silent_p.V106V|SEPT4_uc002iwl.1_Silent_p.V106V|SEPT4_uc002iwn.1_Silent_p.V154V|SEPT4_uc002iwo.1_Silent_p.V234V|SEPT4_uc002iwp.1_Silent_p.V234V|SEPT4_uc010wnx.1_Silent_p.V268V|SEPT4_uc010wny.1_Silent_p.V245V|SEPT4_uc010dcy.1_Silent_p.V135V	p.V253V	NM_004574	NP_004565	O43236	SEPT4_HUMAN			6	887	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		253					B2RD42|B3KSX9|B4DXC6|B4DXV5|Q6IAP3|Q9H315|Q9UM58	Silent	SNP	ENST00000317268.3	37	c.759G>T	CCDS11610.1																																																																																				0.557	SEPT4-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445420.1	NM_080417		38	59	1	0	6.68952e-21	0.003214	1.12146e-20	38	59				
TRIM37	4591	broad.mit.edu	37	17	57157191	57157191	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:57157191C>A	ENST00000262294.7	-	7	799	c.540G>T	c.(538-540)cgG>cgT	p.R180R	TRIM37_ENST00000393066.3_Silent_p.R180R|TRIM37_ENST00000376149.3_Silent_p.R58R|TRIM37_ENST00000393065.2_Silent_p.R146R	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	180					aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TCCTAATTTCCCGAACACGCT	0.363									Mulibrey Nanism																														uc002iwy.3		NA																	0				lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1)	7						c.(538-540)CGG>CGT		tripartite motif-containing 37 protein							257.0	211.0	227.0					17																	57157191		2203	4300	6503	SO:0001819	synonymous_variant	4591	Mulibrey_Nanism	Familial Cancer Database	Perheentupa syndrome		perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding	g.chr17:57157191C>A	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.540G>T	17.37:g.57157191C>A						TRIM37_uc002iwz.3_Silent_p.R180R|TRIM37_uc002ixa.3_Silent_p.R58R|TRIM37_uc010woc.1_Silent_p.R146R	p.R180R	NM_001005207	NP_001005207	O94972	TRI37_HUMAN			7	984	-	Medulloblastoma(34;0.0922)|all_neural(34;0.101)		180			Potential.		Q7Z3E6|Q8IYF7|Q8WYF7	Silent	SNP	ENST00000262294.7	37	c.540G>T	CCDS32694.1																																																																																				0.363	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1	NM_015294		29	99	1	0	2.08457e-15	0.002096	3.25604e-15	29	99				
EFCAB3	146779	broad.mit.edu	37	17	60472491	60472491	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:60472491C>A	ENST00000305286.3	+	6	508	c.430C>A	c.(430-432)Cta>Ata	p.L144I	EFCAB3_ENST00000450662.2_Missense_Mutation_p.L196I	NM_173503.3	NP_775774.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	144							calcium ion binding (GO:0005509)			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			GTTTGAAATCCTATCAAGGCT	0.393																																							uc002izu.1		NA																	0				skin(1)	1						c.(430-432)CTA>ATA		EF-hand calcium binding domain 3 isoform b							116.0	122.0	120.0					17																	60472491		2203	4300	6503	SO:0001583	missense	146779						calcium ion binding	g.chr17:60472491C>A	AK098684	CCDS11632.1, CCDS45751.1	17q23.3	2013-01-10			ENSG00000172421	ENSG00000172421		"""EF-hand domain containing"""	26379	protein-coding gene	gene with protein product						12477932	Standard	NM_173503		Approved	FLJ25818	uc010wpc.2	Q8N7B9	OTTHUMG00000179175	ENST00000305286.3:c.430C>A	17.37:g.60472491C>A	ENSP00000302649:p.Leu144Ile					EFCAB3_uc010wpc.1_Missense_Mutation_p.L196I	p.L144I	NM_173503	NP_775774	Q8N7B9	EFCB3_HUMAN	BRCA - Breast invasive adenocarcinoma(2;2.27e-11)		6	508	+			144					J3KQM8	Missense_Mutation	SNP	ENST00000305286.3	37	c.430C>A	CCDS11632.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.621924	0.46840	.	.	ENSG00000172421	ENST00000450662;ENST00000305286;ENST00000520404;ENST00000518576	T;T;T;T	0.75260	-0.92;-0.84;-0.82;-0.84	5.98	4.01	0.46588	.	0.000000	0.46145	D	0.000318	D	0.83022	0.5164	M	0.74881	2.28	0.31173	N	0.702998	D;D	0.76494	0.996;0.999	P;D	0.76071	0.817;0.987	T	0.82676	-0.0339	10	0.87932	D	0	.	8.1163	0.30944	0.0:0.8238:0.0:0.1762	.	144;144	E5RJB7;Q8N7B9	.;EFCB3_HUMAN	I	196;144;144;144	ENSP00000403932:L196I;ENSP00000302649:L144I;ENSP00000429124:L144I;ENSP00000428626:L144I	ENSP00000302649:L144I	L	+	1	2	EFCAB3	57826223	1.000000	0.71417	1.000000	0.80357	0.179000	0.23085	0.700000	0.25601	1.544000	0.49359	0.585000	0.79938	CTA		0.393	EFCAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379114.1	NM_173503		19	89	1	0	1.96895e-08	0.00278	2.58414e-08	19	89				
TANC2	26115	broad.mit.edu	37	17	61417549	61417549	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:61417549C>T	ENST00000424789.2	+	10	1445	c.1441C>T	c.(1441-1443)Cgc>Tgc	p.R481C	TANC2_ENST00000389520.4_Missense_Mutation_p.R481C|AC037445.1_ENST00000581421.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	481					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CTTGCTCTGCCGCTCACCTCA	0.527																																							uc002jal.3		NA																	0				ovary(2)	2						c.(1441-1443)CGC>TGC		tetratricopeptide repeat, ankyrin repeat and							86.0	82.0	84.0					17																	61417549		2058	4222	6280	SO:0001583	missense	26115						binding	g.chr17:61417549C>T	AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.1441C>T	17.37:g.61417549C>T	ENSP00000387593:p.Arg481Cys					TANC2_uc010wpe.1_Missense_Mutation_p.R391C	p.R481C	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN			10	1464	+			481					Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	ENST00000424789.2	37	c.1441C>T	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.204412	0.79127	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.70869	-0.52;-0.51	5.23	5.23	0.72850	.	0.059654	0.64402	D	0.000001	D	0.83912	0.5357	M	0.73217	2.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.988;0.993	D	0.85754	0.1345	10	0.87932	D	0	.	18.7868	0.91959	0.0:1.0:0.0:0.0	.	481;481	Q9HCD6-2;Q9HCD6	.;TANC2_HUMAN	C	481	ENSP00000374171:R481C;ENSP00000387593:R481C	ENSP00000374171:R481C	R	+	1	0	TANC2	58771281	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.762000	0.62250	2.431000	0.82371	0.563000	0.77884	CGC		0.527	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1			48	39	0	0	0	0.00361	0	48	39				
KCNH6	81033	broad.mit.edu	37	17	61607486	61607486	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:61607486C>A	ENST00000583023.1	+	3	353	c.342C>A	c.(340-342)ccC>ccA	p.P114P	KCNH6_ENST00000581784.1_Silent_p.P114P|KCNH6_ENST00000580652.1_Silent_p.P114P|KCNH6_ENST00000314672.5_Silent_p.P114P|KCNH6_ENST00000456941.2_Silent_p.P114P	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	114	PAC.				potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	ATGTGGTGCCCGTGAAGAACG	0.642																																							uc002jay.2		NA																	0				skin(1)	1						c.(340-342)CCC>CCA		potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)						94.0	80.0	85.0					17																	61607486		2203	4300	6503	SO:0001819	synonymous_variant	81033				regulation of transcription, DNA-dependent|signal transduction			g.chr17:61607486C>A	AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.342C>A	17.37:g.61607486C>A						KCNH6_uc002jax.1_Silent_p.P114P|KCNH6_uc010wpl.1_5'UTR|KCNH6_uc010wpm.1_Silent_p.P114P|KCNH6_uc002jaz.1_Silent_p.P114P	p.P114P	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN			3	422	+			114			PAC.|Cytoplasmic (Potential).		Q9BRD7	Silent	SNP	ENST00000583023.1	37	c.342C>A	CCDS11638.1																																																																																				0.642	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	NM_030779		17	92	1	0	1.15919e-05	0.008871	1.35939e-05	17	92				
GH1	2688	broad.mit.edu	37	17	61994765	61994765	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:61994765G>A	ENST00000323322.5	-	5	600	c.558C>T	c.(556-558)taC>taT	p.Y186Y	GH1_ENST00000458650.2_Silent_p.Y171Y|GH1_ENST00000351388.4_Silent_p.Y146Y|GH1_ENST00000342364.4_Silent_p.Y91Y|CSHL1_ENST00000392824.4_Intron	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	186					bone maturation (GO:0070977)|glucose transport (GO:0015758)|growth hormone receptor signaling pathway (GO:0060396)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|growth hormone receptor binding (GO:0005131)|metal ion binding (GO:0046872)|prolactin receptor binding (GO:0005148)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						AGAGCAGCCCGTAGTTCTTGA	0.567																																							uc002jdj.2		NA																	0					0						c.(556-558)TAC>TAT		growth hormone 1 isoform 1							244.0	189.0	208.0					17																	61994765		2203	4300	6503	SO:0001819	synonymous_variant	2688				glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding	g.chr17:61994765G>A	M13438	CCDS11653.1, CCDS11654.1, CCDS45760.1	17q22-q24	2014-01-30				ENSG00000259384		"""Endogenous ligands"""	4261	protein-coding gene	gene with protein product	"""pituitary growth hormone"", ""somatotropin"""	139250				6306568	Standard	XM_005257218		Approved	GH-N, GHN, GH, hGH-N	uc002jdj.3	P01241		ENST00000323322.5:c.558C>T	17.37:g.61994765G>A						GH1_uc002jdi.2_Silent_p.Y171Y|GH1_uc002jdk.2_Silent_p.Y146Y|GH1_uc002jdl.2_Silent_p.Y91Y|GH1_uc002jdm.2_3'UTR|GH1_uc002jdn.2_Missense_Mutation_p.T140M	p.Y186Y	NM_000515	NP_000506	P01241	SOMA_HUMAN			5	620	-			186					A6NEF6|Q14405|Q16631|Q5EB53|Q9HBZ1|Q9UMJ7|Q9UNL5	Silent	SNP	ENST00000323322.5	37	c.558C>T	CCDS11653.1																																																																																				0.567	GH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417708.1	NM_000515		28	131	0	0	0	0.002445	0	28	131				
SMURF2	64750	broad.mit.edu	37	17	62553734	62553734	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:62553734C>A	ENST00000262435.9	-	13	1610	c.1423G>T	c.(1423-1425)Gtt>Ttt	p.V475F		NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	475	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				BMP signaling pathway (GO:0030509)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|SMAD binding (GO:0046332)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			ACCGGATTAACTGCAGAATCA	0.313																																							uc002jep.1		NA																	0				skin(3)|lung(1)	4						c.(1423-1425)GTT>TTT		SMAD specific E3 ubiquitin protein ligase 2							85.0	85.0	85.0					17																	62553734		2203	4298	6501	SO:0001583	missense	64750				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity	g.chr17:62553734C>A	AF301463	CCDS32707.1	17q22-q23	2012-10-05			ENSG00000108854	ENSG00000108854			16809	protein-coding gene	gene with protein product		605532				11016919	Standard	XM_005257585		Approved		uc002jep.1	Q9HAU4	OTTHUMG00000179189	ENST00000262435.9:c.1423G>T	17.37:g.62553734C>A	ENSP00000262435:p.Val475Phe					SMURF2_uc002jeq.1_Missense_Mutation_p.V234F|SMURF2_uc002jer.1_Missense_Mutation_p.V234F	p.V475F	NM_022739	NP_073576	Q9HAU4	SMUF2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;9.88e-12)		13	1811	-	Breast(5;1.32e-14)		475			HECT.		Q52LL1|Q9H260	Missense_Mutation	SNP	ENST00000262435.9	37	c.1423G>T	CCDS32707.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.354820	0.41700	.	.	ENSG00000108854	ENST00000262435	T	0.57595	0.39	5.81	5.81	0.92471	HECT (4);	0.000000	0.85682	D	0.000000	T	0.63920	0.2552	M	0.63169	1.94	0.80722	D	1	P	0.45126	0.851	P	0.53912	0.737	T	0.65874	-0.6062	10	0.87932	D	0	.	13.2989	0.60313	0.0:0.9278:0.0:0.0722	.	475	Q9HAU4	SMUF2_HUMAN	F	475	ENSP00000262435:V475F	ENSP00000262435:V475F	V	-	1	0	SMURF2	59984196	0.999000	0.42202	1.000000	0.80357	0.993000	0.82548	4.047000	0.57383	2.759000	0.94783	0.591000	0.81541	GTT		0.313	SMURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445227.1	NM_022739		12	95	1	0	2.68362e-12	0.001368	3.93545e-12	12	95				
RGS9	8787	broad.mit.edu	37	17	63149633	63149633	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:63149633A>C	ENST00000262406.9	+	2	218	c.151A>C	c.(151-153)Aca>Cca	p.T51P	RGS9_ENST00000449996.3_Missense_Mutation_p.T51P|RGS9_ENST00000443584.3_Missense_Mutation_p.T51P|RGS9_ENST00000577186.1_3'UTR	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	51	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						TCATGCCATGACAGGTGATGT	0.522																																							uc002jfe.2		NA																	0				ovary(2)|skin(2)	4						c.(151-153)ACA>CCA		regulator of G-protein signaling 9 isoform 1							107.0	111.0	110.0					17																	63149633		1976	4157	6133	SO:0001583	missense	8787				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr17:63149633A>C	AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"""Regulators of G-protein signaling"""	10004	protein-coding gene	gene with protein product	"""regulator of G protein signalling 9"", ""regulator of G protein signalling 9L"", ""regulator of G-protein signaling 9L"""	604067	"""regulator of G-protein signalling 9"""			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.151A>C	17.37:g.63149633A>C	ENSP00000262406:p.Thr51Pro					RGS9_uc010dem.2_Missense_Mutation_p.T51P|RGS9_uc002jfd.2_Missense_Mutation_p.T51P|RGS9_uc002jff.2_RNA	p.T51P	NM_003835	NP_003826	O75916	RGS9_HUMAN			2	261	+			51			DEP.		A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Missense_Mutation	SNP	ENST00000262406.9	37	c.151A>C	CCDS42373.1	.	.	.	.	.	.	.	.	.	.	A	13.52	2.260787	0.39995	.	.	ENSG00000108370	ENST00000262406;ENST00000449996;ENST00000443584	T;T;T	0.28666	1.6;1.6;1.6	5.49	5.49	0.81192	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.229379	0.45126	D	0.000390	T	0.49218	0.1544	L	0.60455	1.87	0.44110	D	0.996887	D;D;D	0.64830	0.994;0.982;0.977	D;D;D	0.67900	0.947;0.954;0.923	T	0.50964	-0.8765	10	0.87932	D	0	.	11.9624	0.53015	1.0:0.0:0.0:0.0	.	51;51;51	A8K1G1;O75916;O75916-5	.;RGS9_HUMAN;.	P	51	ENSP00000262406:T51P;ENSP00000396329:T51P;ENSP00000405814:T51P	ENSP00000262406:T51P	T	+	1	0	RGS9	60580095	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.591000	0.53986	2.092000	0.63282	0.459000	0.35465	ACA		0.522	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445885.1	NM_003835		7	94	0	0	0	0.00308	0	7	94				
CACNG5	27091	broad.mit.edu	37	17	64881147	64881147	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:64881147G>T	ENST00000533854.1	+	6	855	c.618G>T	c.(616-618)gcG>gcT	p.A206A	CACNG5_ENST00000307139.3_Silent_p.A206A			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	206				SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089). {ECO:0000305}.	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ion transmembrane transporter activity (GO:0015075)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			GGTACACCGCGGAGGACATGT	0.612																																							uc010wqi.1		NA																	0				pancreas(1)|skin(1)	2						c.(616-618)GCG>GCT		voltage-dependent calcium channel gamma-5							73.0	64.0	67.0					17																	64881147		2203	4300	6503	SO:0001819	synonymous_variant	27091				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity	g.chr17:64881147G>T	AF148220	CCDS11665.1	17q24	2004-02-16				ENSG00000075429		"""Calcium channel subunits"""	1409	protein-coding gene	gene with protein product		606405				10613843	Standard	NM_145811		Approved		uc010wqj.2	Q9UF02		ENST00000533854.1:c.618G>T	17.37:g.64881147G>T						CACNG5_uc010wqj.1_Silent_p.A206A	p.A206A	NM_145811	NP_665810	Q9UF02	CCG5_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.61e-08)		6	855	+			206	SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089).				A8K2A6|Q547R3|Q8WXS7|Q9UHM3	Silent	SNP	ENST00000533854.1	37	c.618G>T	CCDS11665.1																																																																																				0.612	CACNG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389882.1	NM_014404, NM_145811		27	42	1	0	4.74835e-14	0.002096	7.16833e-14	27	42				
NOL11	25926	broad.mit.edu	37	17	65739938	65739938	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:65739938G>C	ENST00000253247.4	+	18	2238	c.2123G>C	c.(2122-2124)aGa>aCa	p.R708T	NOL11_ENST00000535137.1_Missense_Mutation_p.R526T	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	708					maturation of SSU-rRNA (GO:0030490)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			AAGAATAATAGAGGATTATAT	0.318																																							uc002jgd.1		NA																	0					0						c.(2122-2124)AGA>ACA		nucleolar protein 11							41.0	46.0	45.0					17																	65739938		2203	4296	6499	SO:0001583	missense	25926					nucleolus		g.chr17:65739938G>C	AK023702	CCDS11671.1	17q24.2	2005-08-08							24557	protein-coding gene	gene with protein product		615366				12477932	Standard	NM_015462		Approved	DKFZP586L0724	uc002jgd.1	Q9H8H0		ENST00000253247.4:c.2123G>C	17.37:g.65739938G>C	ENSP00000253247:p.Arg708Thr					NOL11_uc010wql.1_Missense_Mutation_p.R526T|NOL11_uc010deu.1_Missense_Mutation_p.R303T	p.R708T	NM_015462	NP_056277	Q9H8H0	NOL11_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)		18	2126	+	all_cancers(12;1.54e-10)		708					B7Z5V9|Q7L5S1|Q9UG18	Missense_Mutation	SNP	ENST00000253247.4	37	c.2123G>C	CCDS11671.1	.	.	.	.	.	.	.	.	.	.	G	3.908	-0.020699	0.07634	.	.	ENSG00000130935	ENST00000253247;ENST00000535137	T	0.44083	0.93	5.27	1.64	0.23874	.	0.462357	0.23005	N	0.053031	T	0.33469	0.0864	M	0.63428	1.95	0.20873	N	0.999832	B	0.06786	0.001	B	0.04013	0.001	T	0.29971	-0.9994	10	0.09084	T	0.74	-11.4812	9.7545	0.40496	0.0:0.1754:0.6619:0.1627	.	708	Q9H8H0	NOL11_HUMAN	T	708;526	ENSP00000253247:R708T	ENSP00000253247:R708T	R	+	2	0	NOL11	63170400	0.780000	0.28664	0.748000	0.31131	0.996000	0.88848	0.829000	0.27449	0.700000	0.31782	0.655000	0.94253	AGA		0.318	NOL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448074.1	NM_015462		7	40	0	0	0	0.001984	0	7	40				
ABCA9	10350	broad.mit.edu	37	17	67023203	67023203	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:67023203C>G	ENST00000340001.4	-	15	2175	c.1964G>C	c.(1963-1965)cGa>cCa	p.R655P	ABCA9_ENST00000453985.2_Missense_Mutation_p.R655P|ABCA9_ENST00000370732.2_Missense_Mutation_p.R655P	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	655	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					ATTCCATATTCGGTGCCTTGA	0.433																																							uc002jhu.2		NA																	0				ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(1963-1965)CGA>CCA		ATP-binding cassette, sub-family A, member 9							80.0	81.0	81.0					17																	67023203		2203	4300	6503	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67023203C>G	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.1964G>C	17.37:g.67023203C>G	ENSP00000342216:p.Arg655Pro					ABCA9_uc010dez.2_Missense_Mutation_p.R655P	p.R655P	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN			15	2107	-	Breast(10;1.47e-12)		655			ABC transporter 1.		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.1964G>C	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	C	9.935	1.215964	0.22373	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	T;T	0.40225	1.04;1.04	5.31	-5.02	0.02982	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.590344	0.14176	N	0.336348	T	0.48370	0.1496	M	0.67700	2.07	0.09310	N	1	D;P	0.52996	0.957;0.67	P;P	0.57502	0.822;0.452	T	0.46652	-0.9176	10	0.35671	T	0.21	.	10.12	0.42614	0.0:0.2847:0.1006:0.6147	.	655;655	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	P	655;638;655;650	ENSP00000342216:R655P;ENSP00000359767:R655P	ENSP00000342216:R655P	R	-	2	0	ABCA9	64534798	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.725000	0.04942	-0.796000	0.04456	-0.224000	0.12420	CGA		0.433	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		40	45	0	0	0	0.002522	0	40	45				
KCNJ2	3759	broad.mit.edu	37	17	68171232	68171232	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:68171232G>T	ENST00000243457.3	+	2	435	c.52G>T	c.(52-54)Ggt>Tgt	p.G18C	KCNJ2_ENST00000535240.1_Missense_Mutation_p.G18C	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	18					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					AGAAGAAGACGGTATGAAGTT	0.522																																							uc010dfg.2		NA																	0					0						c.(52-54)GGT>TGT		potassium inwardly-rectifying channel J2							76.0	72.0	73.0					17																	68171232		2203	4300	6503	SO:0001583	missense	3759				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding	g.chr17:68171232G>T	AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.52G>T	17.37:g.68171232G>T	ENSP00000243457:p.Gly18Cys					KCNJ2_uc002jir.2_Missense_Mutation_p.G18C	p.G18C	NM_000891	NP_000882	P63252	IRK2_HUMAN			2	453	+	Breast(10;1.64e-08)		18			Cytoplasmic (By similarity).		O15110|P48049	Missense_Mutation	SNP	ENST00000243457.3	37	c.52G>T	CCDS11688.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.931473	0.73442	.	.	ENSG00000123700	ENST00000535240;ENST00000243457	T;T	0.71934	-0.61;-0.61	5.79	5.79	0.91817	Potassium channel, inwardly rectifying, Kir, N-terminal (1);	0.104764	0.64402	D	0.000006	T	0.81331	0.4800	L	0.50333	1.59	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	T	0.78422	-0.2210	9	.	.	.	.	20.0435	0.97601	0.0:0.0:1.0:0.0	.	18	P63252	IRK2_HUMAN	C	18	ENSP00000441848:G18C;ENSP00000243457:G18C	.	G	+	1	0	KCNJ2	65682827	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.006000	0.88564	2.731000	0.93534	0.650000	0.86243	GGT		0.522	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450889.1	NM_000891		21	34	1	0	1.9806e-07	0.002299	2.50438e-07	21	34				
SDK2	54549	broad.mit.edu	37	17	71387661	71387661	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:71387661C>A	ENST00000392650.3	-	28	3915	c.3915G>T	c.(3913-3915)atG>atT	p.M1305I	SDK2_ENST00000388726.3_Missense_Mutation_p.M1305I	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1305	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						ACAGGATGCCCATGGGTGGTC	0.662																																							uc010dfm.2		NA																	0				ovary(2)	2						c.(3913-3915)ATG>ATT		sidekick 2							25.0	21.0	22.0					17																	71387661		2203	4296	6499	SO:0001583	missense	54549				cell adhesion	integral to membrane		g.chr17:71387661C>A	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.3915G>T	17.37:g.71387661C>A	ENSP00000376421:p.Met1305Ile					SDK2_uc002jjt.3_Missense_Mutation_p.M464I|SDK2_uc010dfn.2_Missense_Mutation_p.M984I	p.M1305I	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN			28	3915	-			1305			Fibronectin type-III 8.|Extracellular (Potential).		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	c.3915G>T	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.944878	0.34283	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893	T;T;T	0.56776	0.44;0.44;0.44	5.25	5.25	0.73442	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.182347	0.50627	D	0.000119	T	0.43656	0.1257	L	0.29908	0.895	0.41663	D	0.989193	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.24941	-1.0146	10	0.34782	T	0.22	.	17.6287	0.88100	0.0:1.0:0.0:0.0	.	1305;1305;1305	Q58EX2-2;Q58EX2;Q58EX2-3	.;SDK2_HUMAN;.	I	929;1305;1305;481;1305	ENSP00000376421:M1305I;ENSP00000373378:M1305I;ENSP00000407098:M481I	ENSP00000324967:M1305I	M	-	3	0	SDK2	68899256	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.714000	0.37961	2.456000	0.83038	0.561000	0.74099	ATG		0.662	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		10	9	1	0	0.000442599	0.006214	0.000487515	10	9				
SDK2	54549	broad.mit.edu	37	17	71389876	71389876	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:71389876C>A	ENST00000392650.3	-	27	3721	c.3721G>T	c.(3721-3723)Gag>Tag	p.E1241*	SDK2_ENST00000388726.3_Nonsense_Mutation_p.E1241*	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1241	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GAGTCCTTCTCCTTATACATC	0.587																																							uc010dfm.2		NA																	0				ovary(2)	2						c.(3721-3723)GAG>TAG		sidekick 2							55.0	49.0	51.0					17																	71389876		2203	4300	6503	SO:0001587	stop_gained	54549				cell adhesion	integral to membrane		g.chr17:71389876C>A	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.3721G>T	17.37:g.71389876C>A	ENSP00000376421:p.Glu1241*					SDK2_uc002jjt.3_Nonsense_Mutation_p.E400*|SDK2_uc010dfn.2_Nonsense_Mutation_p.E920*	p.E1241*	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN			27	3721	-			1241			Fibronectin type-III 7.|Extracellular (Potential).		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Nonsense_Mutation	SNP	ENST00000392650.3	37	c.3721G>T	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	C	32	5.176281	0.94846	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	19.1083	0.93305	0.0:1.0:0.0:0.0	.	.	.	.	X	865;1241;1241;417;1241	.	ENSP00000324967:E1241X	E	-	1	0	SDK2	68901471	1.000000	0.71417	0.999000	0.59377	0.079000	0.17450	7.324000	0.79115	2.514000	0.84764	0.563000	0.77884	GAG		0.587	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		18	22	1	0	4.26978e-12	0.00333	6.21857e-12	18	22				
DNAI2	64446	broad.mit.edu	37	17	72277988	72277988	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:72277988G>T	ENST00000311014.6	+	2	99	c.32G>T	c.(31-33)cGc>cTc	p.R11L	DNAI2_ENST00000307504.5_5'UTR|DNAI2_ENST00000582036.1_Missense_Mutation_p.R11L|DNAI2_ENST00000579490.1_Missense_Mutation_p.R68L|DNAI2_ENST00000446837.2_Missense_Mutation_p.R11L			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	11					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GTCAAGAAGCGCAGCGAGTTC	0.637									Kartagener syndrome																														uc002jkf.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(31-33)CGC>CTC		dynein, axonemal, intermediate polypeptide 2							118.0	99.0	105.0					17																	72277988		2203	4300	6503	SO:0001583	missense	64446	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	g.chr17:72277988G>T	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"""Axonemal dyneins"", ""WD repeat domain containing"""	18744	protein-coding gene	gene with protein product	"""dynein intermediate chain 2"""	605483	"""dynein, axonemal, intermediate polypeptide 2"""			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.32G>T	17.37:g.72277988G>T	ENSP00000308312:p.Arg11Leu					DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_RNA	p.R11L	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN			2	131	+			11					C9J0S6|Q8IUW4|Q9H179|Q9NT53	Missense_Mutation	SNP	ENST00000311014.6	37	c.32G>T	CCDS11697.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.757835	0.89843	.	.	ENSG00000171595	ENST00000311014;ENST00000446837	T;T	0.75260	-0.92;-0.92	5.22	5.22	0.72569	.	0.120505	0.56097	D	0.000031	D	0.90174	0.6929	H	0.94385	3.53	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	D	0.92546	0.6046	10	0.87932	D	0	-34.5655	19.0564	0.93067	0.0:0.0:1.0:0.0	.	11	Q9GZS0	DNAI2_HUMAN	L	11	ENSP00000308312:R11L;ENSP00000400252:R11L	ENSP00000308312:R11L	R	+	2	0	DNAI2	69789583	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.713000	0.74686	2.735000	0.93741	0.650000	0.86243	CGC		0.637	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1	NM_023036		15	92	1	0	1.56452e-12	0.007413	2.31028e-12	15	92				
CD300LB	124599	broad.mit.edu	37	17	72521974	72521974	+	Missense_Mutation	SNP	T	T	C	rs113622355		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:72521974T>C	ENST00000392621.1	-	2	398	c.394A>G	c.(394-396)Agg>Ggg	p.R132G	CD300LB_ENST00000314401.3_Missense_Mutation_p.R132G	NM_174892.2	NP_777552	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	95					cellular response to lipopolysaccharide (GO:0071222)|innate immune response (GO:0045087)|neutrophil mediated immunity (GO:0002446)|positive regulation of mast cell activation (GO:0033005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						TCATCTCGCCTGAGCCCCTCC	0.507																																							uc002jkx.2		NA																	0				ovary(1)	1						c.(394-396)AGG>GGG		CD300 molecule-like family member b							238.0	214.0	222.0					17																	72521974		2203	4300	6503	SO:0001583	missense	124599					integral to membrane|plasma membrane	receptor activity	g.chr17:72521974T>C	AF427618	CCDS11700.1, CCDS11700.2	17q25.1	2013-01-11	2006-03-29		ENSG00000178789	ENSG00000178789		"""Immunoglobulin superfamily / V-set domain containing"""	30811	protein-coding gene	gene with protein product	"""triggering receptor expressed on myeloid cells 5"""	610705	"""CD300 antigen like family member B"""			12975309	Standard	NM_174892		Approved	TREM5, CLM7	uc002jkx.2	A8K4G0	OTTHUMG00000067606	ENST00000392621.1:c.394A>G	17.37:g.72521974T>C	ENSP00000376397:p.Arg132Gly					CD300LB_uc010wqz.1_Missense_Mutation_p.R132G	p.R132G	NM_174892	NP_777552	A8K4G0	CLM7_HUMAN			2	407	-			95			Ig-like V-type.|Extracellular (Potential).		Q1EG73|Q8IX40|Q8N6D1	Missense_Mutation	SNP	ENST00000392621.1	37	c.394A>G	CCDS11700.1	.	.	.	.	.	.	.	.	.	.	T	10.73	1.431982	0.25813	.	.	ENSG00000178789	ENST00000392621;ENST00000314401	T	0.68624	-0.34	5.17	-0.0388	0.13878	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.524836	0.17005	N	0.190777	T	0.81273	0.4788	M	0.94021	3.485	0.09310	N	1	D;D	0.65815	0.964;0.995	P;P	0.62813	0.888;0.907	T	0.71094	-0.4692	10	0.66056	D	0.02	-13.8878	7.3213	0.26529	0.0:0.0792:0.4269:0.4939	.	132;95	B4DQ71;A8K4G0	.;CLM7_HUMAN	G	95;132	ENSP00000317337:R132G	ENSP00000317337:R132G	R	-	1	2	CD300LB	70033569	0.000000	0.05858	0.000000	0.03702	0.413000	0.31143	0.002000	0.13061	-0.234000	0.09782	0.460000	0.39030	AGG		0.507	CD300LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145082.2	NM_174892		48	143	0	0	0	0.00361	0	48	143				
CD300LD	100131439	broad.mit.edu	37	17	72578359	72578359	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:72578359G>T	ENST00000375352.1	-	3	551	c.471C>A	c.(469-471)acC>acA	p.T157T	C17orf77_ENST00000392620.1_5'Flank	NM_001115152.1	NP_001108624.1	Q6UXZ3	CLM4_HUMAN	CD300 molecule-like family member d	157					immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(1)|lung(2)|prostate(1)|stomach(1)	5						CCACCTACCTGGTGAGGGGGC	0.562																																							uc002jkz.2		NA																	0					0						c.(469-471)ACC>ACA		CD300 molecule-like family member d precursor							101.0	92.0	95.0					17																	72578359		1568	3582	5150	SO:0001819	synonymous_variant	100131439					integral to membrane|plasma membrane	receptor activity	g.chr17:72578359G>T		CCDS42379.1	17q25.1	2014-05-15			ENSG00000204345	ENSG00000204345		"""Immunoglobulin superfamily / V-set domain containing"""	16848	protein-coding gene	gene with protein product						22291008	Standard	NM_001115152		Approved	CMRF35A4, CD300D	uc002jkz.2	Q6UXZ3	OTTHUMG00000067614	ENST00000375352.1:c.471C>A	17.37:g.72578359G>T						C17orf77_uc002jla.1_5'Flank	p.T157T	NM_001115152	NP_001108624	Q6UXZ3	CLM4_HUMAN			3	500	-			157			Extracellular (Potential).			Silent	SNP	ENST00000375352.1	37	c.471C>A	CCDS42379.1																																																																																				0.562	CD300LD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145099.1	NM_001115152		14	47	1	0	1.15088e-07	0.004007	1.4602e-07	14	47				
CD300E	342510	broad.mit.edu	37	17	72613290	72613290	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:72613290G>T	ENST00000328630.3	-	2	395	c.355C>A	c.(355-357)Ccc>Acc	p.P119T	CD300E_ENST00000426295.2_Missense_Mutation_p.P160T|CD300E_ENST00000392619.1_Missense_Mutation_p.P146T			Q496F6	CLM2_HUMAN	CD300e molecule	119	Ig-like V-type.				innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						AGGTCCGAGGGATCGCGTGAC	0.547																																							uc002jlb.1		NA																	0				skin(2)|large_intestine(1)|ovary(1)	4						c.(355-357)CCC>ACC		CD300e molecule precursor							158.0	132.0	141.0					17																	72613290		2203	4300	6503	SO:0001583	missense	342510					integral to membrane|plasma membrane	receptor activity	g.chr17:72613290G>T	BX648376	CCDS11702.1	17q25.1	2013-01-11	2006-03-28	2006-02-22	ENSG00000186407	ENSG00000186407		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	28874	protein-coding gene	gene with protein product		609801	"""CD300 antigen like family member E"", ""CD300e antigen"""	CD300LE		15549731, 15557162	Standard	NM_181449		Approved	IREM2, CLM2	uc002jlb.2	Q496F6	OTTHUMG00000067605	ENST00000328630.3:c.355C>A	17.37:g.72613290G>T	ENSP00000329942:p.Pro119Thr						p.P119T	NM_181449	NP_852114	Q496F6	CLM2_HUMAN			2	396	-			119			Ig-like V-type.|Extracellular (Potential).		B4DNS1|Q7Z7I3	Missense_Mutation	SNP	ENST00000328630.3	37	c.355C>A	CCDS11702.1	.	.	.	.	.	.	.	.	.	.	G	9.783	1.175786	0.21704	.	.	ENSG00000186407	ENST00000392619;ENST00000426295;ENST00000328630;ENST00000412268	T;T;T;T	0.10192	3.73;3.73;3.73;2.9	3.51	1.4	0.22301	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.293466	0.24046	N	0.042052	T	0.18635	0.0447	L	0.52364	1.645	0.09310	N	1	D	0.65815	0.995	D	0.70487	0.969	T	0.09930	-1.0652	10	0.21540	T	0.41	-19.7146	6.1037	0.20061	0.0:0.2107:0.5717:0.2175	.	119	Q496F6	CLM2_HUMAN	T	146;160;119;121	ENSP00000376395:P146T;ENSP00000416642:P160T;ENSP00000329942:P119T;ENSP00000415488:P121T	ENSP00000329942:P119T	P	-	1	0	CD300E	70124885	0.001000	0.12720	0.002000	0.10522	0.015000	0.08874	0.450000	0.21762	0.440000	0.26502	0.313000	0.20887	CCC		0.547	CD300E-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_181449		32	113	1	0	2.20474e-14	0.003755	3.3625e-14	32	113				
MGAT5B	146664	broad.mit.edu	37	17	74901414	74901414	+	Splice_Site	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:74901414A>T	ENST00000569840.2	+	7	1428	c.854A>T	c.(853-855)cAg>cTg	p.Q285L	MGAT5B_ENST00000374998.3_3'UTR|MGAT5B_ENST00000301618.4_Splice_Site_p.Q285L|MGAT5B_ENST00000428789.2_Splice_Site_p.Q296L	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	285					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GACCAGAAGCAGGTGCGTGGC	0.622																																							uc002jti.2		NA																	0				ovary(2)|skin(1)	3						c.(886-888)CAG>CTG		N-acetylglucosaminyltranferase VB isoform 2							15.0	19.0	18.0					17																	74901414		2192	4285	6477	SO:0001630	splice_region_variant	146664					Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr17:74901414A>T	AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	24140	protein-coding gene	gene with protein product		612441	"""mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"""			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.855+1A>T	17.37:g.74901414A>T						MGAT5B_uc002jth.2_Missense_Mutation_p.Q285L	p.Q296L	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN			6	990	+			285			Lumenal (Potential).		Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Missense_Mutation	SNP	ENST00000569840.2	37	c.887A>T	CCDS59299.1	.	.	.	.	.	.	.	.	.	.	A	10.92	1.486038	0.26686	.	.	ENSG00000167889	ENST00000374998;ENST00000301618;ENST00000428789	T;T	0.46063	0.88;0.88	5.18	5.18	0.71444	.	0.197842	0.44688	D	0.000421	T	0.38719	0.1051	L	0.53249	1.67	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.09377	0.004;0.004	T	0.31558	-0.9939	10	0.72032	D	0.01	-38.177	10.7724	0.46330	0.8582:0.0:0.0:0.1418	.	296;285	Q3V5L5-2;Q3V5L5-5	.;.	L	285;285;296	ENSP00000301618:Q285L;ENSP00000391227:Q296L	ENSP00000301618:Q285L	Q	+	2	0	MGAT5B	72413009	1.000000	0.71417	1.000000	0.80357	0.115000	0.19883	5.199000	0.65152	1.953000	0.56701	0.416000	0.27883	CAG		0.622	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460624.2	NM_144677	Missense_Mutation	5	12	0	0	0	0.000602	0	5	12				
CARD14	79092	broad.mit.edu	37	17	78169367	78169367	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:78169367G>T	ENST00000573882.1	+	13	2046	c.1510G>T	c.(1510-1512)Gag>Tag	p.E504*	CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000392434.2_Nonsense_Mutation_p.E267*|CARD14_ENST00000570421.1_Nonsense_Mutation_p.E504*|CARD14_ENST00000344227.2_Nonsense_Mutation_p.E504*			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	504					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CAGCTGCCTGGAGATCCCGGA	0.647																																							uc002jxw.1		NA																	0				ovary(4)|skin(1)	5						c.(1510-1512)GAG>TAG		caspase recruitment domain protein 14 isoform 1							22.0	24.0	23.0					17																	78169367		2203	4298	6501	SO:0001587	stop_gained	79092				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding	g.chr17:78169367G>T	AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"""psoriasis susceptibility 2"""	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.1510G>T	17.37:g.78169367G>T	ENSP00000458715:p.Glu504*					CARD14_uc002jxt.1_RNA|CARD14_uc002jxv.2_Nonsense_Mutation_p.E504*|CARD14_uc010wud.1_RNA|CARD14_uc002jxx.2_Nonsense_Mutation_p.E267*|CARD14_uc010dhu.1_Nonsense_Mutation_p.E302*	p.E504*	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		11	1705	+	all_neural(118;0.0952)		504					B8QQJ3|Q9BVB5	Nonsense_Mutation	SNP	ENST00000573882.1	37	c.1510G>T	CCDS11768.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.474480	0.63737	.	.	ENSG00000141527	ENST00000344227;ENST00000392434;ENST00000309710	.	.	.	3.67	2.69	0.31865	.	0.876963	0.10087	N	0.717674	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-10.0401	7.3879	0.26893	0.1231:0.0:0.8769:0.0	.	.	.	.	X	504;267;267	.	ENSP00000308507:E267X	E	+	1	0	CARD14	75783962	0.191000	0.23288	0.004000	0.12327	0.007000	0.05969	2.583000	0.46094	0.885000	0.36088	0.561000	0.74099	GAG		0.647	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437507.1			4	19	1	0	1.23904e-05	0.000602	1.44506e-05	4	19				
RNF213	57674	broad.mit.edu	37	17	78350164	78350164	+	Missense_Mutation	SNP	C	C	T	rs200435901		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:78350164C>T	ENST00000582970.1	+	52	13392	c.13249C>T	c.(13249-13251)Cgt>Tgt	p.R4417C	CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.R2490C|RNF213_ENST00000508628.2_Missense_Mutation_p.R4466C|CTD-2047H16.4_ENST00000572151.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4417					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TGATATCAGCCGTTTTGCAAC	0.453																																							uc002jyh.1		NA																	0				ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21						c.(7468-7470)CGT>TGT		ring finger protein 213							182.0	159.0	167.0					17																	78350164		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78350164C>T	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.13249C>T	17.37:g.78350164C>T	ENSP00000464087:p.Arg4417Cys					uc002jyi.1_Intron|RNF213_uc010dhw.1_Missense_Mutation_p.R872C	p.R2490C	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		27	7691	+	all_neural(118;0.0538)		Error:Variant_position_missing_in_Q9HCF4_after_alignment					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.7468C>T	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.161895	0.38217	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.23950	1.88	5.46	-10.9	0.00192	.	4.458580	0.00465	N	0.000112	T	0.09423	0.0232	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.20739	-1.0266	10	0.51188	T	0.08	.	1.7185	0.02906	0.1956:0.2029:0.351:0.2505	.	4466;2490	C9JCP4;Q63HN8	.;RN213_HUMAN	C	4417;4466;2490	ENSP00000338218:R2490C	ENSP00000338218:R2490C	R	+	1	0	RNF213	75964759	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.981000	0.00662	-1.580000	0.01644	-0.300000	0.09419	CGT		0.453	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		19	164	0	0	0	0.001882	0	19	164				
BAIAP2	10458	broad.mit.edu	37	17	79080634	79080634	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:79080634G>A	ENST00000321300.6	+	12	1520	c.1427G>A	c.(1426-1428)cGg>cAg	p.R476Q	BAIAP2_ENST00000416299.2_Missense_Mutation_p.R339Q|BAIAP2_ENST00000428708.2_Missense_Mutation_p.R476Q|BAIAP2_ENST00000435091.3_Missense_Mutation_p.R476Q|BAIAP2_ENST00000321280.7_Missense_Mutation_p.R476Q|BAIAP2_ENST00000575712.1_Missense_Mutation_p.R476Q|BAIAP2_ENST00000392411.3_Missense_Mutation_p.R398Q|BAIAP2_ENST00000575245.1_Missense_Mutation_p.R509Q	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	476					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of synaptic plasticity (GO:0048167)|response to bacterium (GO:0009617)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	cytoskeletal adaptor activity (GO:0008093)|identical protein binding (GO:0042802)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GCCGCCTCCCGGGCCTTCCCC	0.706																																							uc002jzg.2		NA																	0					0						c.(1426-1428)CGG>CAG		BAI1-associated protein 2 isoform 2							32.0	32.0	32.0					17																	79080634		2199	4298	6497	SO:0001583	missense	10458				axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr17:79080634G>A	AB015019	CCDS11775.1, CCDS11776.1, CCDS11777.1, CCDS45806.1	17q25.3	2014-09-11			ENSG00000175866				947	protein-coding gene	gene with protein product		605475				10343108	Standard	NM_017451		Approved	BAP2	uc002jzg.2	Q9UQB8	OTTHUMG00000177698	ENST00000321300.6:c.1427G>A	17.37:g.79080634G>A	ENSP00000316338:p.Arg476Gln					BAIAP2_uc002jyz.3_Missense_Mutation_p.R476Q|BAIAP2_uc002jza.2_Missense_Mutation_p.R476Q|BAIAP2_uc002jzc.2_Missense_Mutation_p.R477Q|BAIAP2_uc002jzb.2_Missense_Mutation_p.R233Q|BAIAP2_uc002jzd.2_Missense_Mutation_p.R476Q|BAIAP2_uc002jzf.2_Missense_Mutation_p.R476Q|BAIAP2_uc002jze.2_Missense_Mutation_p.R509Q|BAIAP2_uc010wuh.1_Missense_Mutation_p.R398Q|BAIAP2_uc002jzh.2_Missense_Mutation_p.R477Q|BAIAP2_uc010wui.1_Missense_Mutation_p.R339Q	p.R476Q	NM_017451	NP_059345	Q9UQB8	BAIP2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		12	1535	+	all_neural(118;0.101)		476					O43858|Q53HB1|Q86WC1|Q8N5C0|Q96CR7|Q9UBR3|Q9UQ43	Missense_Mutation	SNP	ENST00000321300.6	37	c.1427G>A	CCDS11775.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.801898	0.50315	.	.	ENSG00000175866	ENST00000321300;ENST00000428708;ENST00000435091;ENST00000321280;ENST00000392411;ENST00000416299	T;T;T;T;T;T	0.37584	1.83;1.85;1.22;1.22;1.83;1.19	4.78	4.78	0.61160	.	0.682470	0.14041	N	0.345445	T	0.30823	0.0777	L	0.41356	1.27	0.47214	D	0.999358	B;B;B;B;B;B;B;P;B	0.35468	0.282;0.17;0.282;0.215;0.321;0.086;0.321;0.503;0.321	B;B;B;B;B;B;B;B;B	0.27608	0.018;0.017;0.032;0.027;0.06;0.019;0.06;0.081;0.06	T	0.16217	-1.0410	10	0.45353	T	0.12	-12.5716	16.6548	0.85225	0.0:0.0:1.0:0.0	.	339;398;477;476;476;476;476;477;476	B4DWA1;F8W878;B3KPV9;Q9UQB8;Q9UQB8-2;Q9UQB8-3;Q9UQB8-5;Q9UQB8-6;Q9UQB8-4	.;.;.;BAIP2_HUMAN;.;.;.;.;.	Q	476;476;476;476;398;339	ENSP00000316338:R476Q;ENSP00000401022:R476Q;ENSP00000413069:R476Q;ENSP00000315685:R476Q;ENSP00000376211:R398Q;ENSP00000391837:R339Q	ENSP00000315685:R476Q	R	+	2	0	BAIAP2	76695229	0.945000	0.32115	0.945000	0.38365	0.350000	0.29205	4.629000	0.61290	2.232000	0.73038	0.298000	0.19748	CGG		0.706	BAIAP2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438553.1			6	41	0	0	0	0.001168	0	6	41				
CSNK1D	1453	broad.mit.edu	37	17	80231249	80231249	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:80231249C>T	ENST00000314028.6	-	1	358	c.9G>A	c.(7-9)ctG>ctA	p.L3L	CSNK1D_ENST00000392334.2_Silent_p.L3L|CSNK1D_ENST00000398519.5_Silent_p.L3L	NM_001893.4	NP_001884.2	P48730	KC1D_HUMAN	casein kinase 1, delta	3					circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|signal transduction (GO:0007165)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle (GO:0005819)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			TCCCGACTCTCAGCTCCATGG	0.726																																							uc002kej.2		NA																	0				breast(2)	2						c.(7-9)CTG>CTA		casein kinase 1, delta isoform 1							12.0	14.0	13.0					17																	80231249		2103	4173	6276	SO:0001819	synonymous_variant	1453				circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway	centrosome|cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:80231249C>T		CCDS11805.1, CCDS11806.1	17q25	2013-01-17				ENSG00000141551			2452	protein-coding gene	gene with protein product		600864				7797465	Standard	NM_001893		Approved	HCKID, CKID, CKIdelta	uc002kej.3	P48730		ENST00000314028.6:c.9G>A	17.37:g.80231249C>T						CSNK1D_uc002kef.2_Silent_p.L3L|CSNK1D_uc002kei.2_Silent_p.L3L|CSNK1D_uc010wvj.1_5'UTR	p.L3L	NM_001893	NP_001884	P48730	KC1D_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)		1	325	-	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		3					A2I2P2|Q96KZ6|Q9BTN5	Silent	SNP	ENST00000314028.6	37	c.9G>A	CCDS11805.1																																																																																				0.726	CSNK1D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442632.1	NM_139062		3	20	0	0	0	0.000602	0	3	20				
CSNK1D	1453	broad.mit.edu	37	17	80231254	80231254	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:80231254C>G	ENST00000314028.6	-	1	353	c.4G>C	c.(4-6)Gag>Cag	p.E2Q	CSNK1D_ENST00000392334.2_Missense_Mutation_p.E2Q|CSNK1D_ENST00000398519.5_Missense_Mutation_p.E2Q	NM_001893.4	NP_001884.2	P48730	KC1D_HUMAN	casein kinase 1, delta	2					circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|signal transduction (GO:0007165)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle (GO:0005819)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			ACTCTCAGCTCCATGGCGGCG	0.731																																							uc002kej.2		NA																	0				breast(2)	2						c.(4-6)GAG>CAG		casein kinase 1, delta isoform 1							12.0	14.0	13.0					17																	80231254		2108	4166	6274	SO:0001583	missense	1453				circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway	centrosome|cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:80231254C>G		CCDS11805.1, CCDS11806.1	17q25	2013-01-17				ENSG00000141551			2452	protein-coding gene	gene with protein product		600864				7797465	Standard	NM_001893		Approved	HCKID, CKID, CKIdelta	uc002kej.3	P48730		ENST00000314028.6:c.4G>C	17.37:g.80231254C>G	ENSP00000324464:p.Glu2Gln					CSNK1D_uc002kef.2_Missense_Mutation_p.E2Q|CSNK1D_uc002kei.2_Missense_Mutation_p.E2Q|CSNK1D_uc010wvj.1_5'UTR	p.E2Q	NM_001893	NP_001884	P48730	KC1D_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)		1	320	-	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		2					A2I2P2|Q96KZ6|Q9BTN5	Missense_Mutation	SNP	ENST00000314028.6	37	c.4G>C	CCDS11805.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.994582	0.93167	.	.	ENSG00000141551	ENST00000314028;ENST00000392334;ENST00000403276	T;T;T	0.65549	-0.16;-0.16;0.69	4.02	4.02	0.46733	.	0.062068	0.64402	U	0.000005	T	0.69214	0.3086	M	0.63843	1.955	0.80722	D	1	D;P	0.53462	0.96;0.921	P;P	0.52189	0.519;0.692	T	0.75288	-0.3370	10	0.87932	D	0	.	15.136	0.72566	0.0:1.0:0.0:0.0	.	2;2	P48730;P48730-2	KC1D_HUMAN;.	Q	2	ENSP00000324464:E2Q;ENSP00000376146:E2Q;ENSP00000385769:E2Q	ENSP00000324464:E2Q	E	-	1	0	CSNK1D	77824543	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.973000	0.76116	1.785000	0.52413	0.491000	0.48974	GAG		0.731	CSNK1D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442632.1	NM_139062		3	21	0	0	0	0.000602	0	3	21				
ADCYAP1	116	broad.mit.edu	37	18	905486	905486	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr18:905486C>T	ENST00000579794.1	+	1	377	c.99C>T	c.(97-99)ttC>ttT	p.F33F	RP11-672L10.2_ENST00000577358.1_RNA|RP11-672L10.3_ENST00000582554.1_RNA|RP11-672L10.2_ENST00000581719.2_RNA|ADCYAP1_ENST00000450565.3_Silent_p.F33F|RP11-672L10.2_ENST00000580612.1_RNA	NM_001117.3	NP_001108.2	P18509	PACA_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary)	33					activation of adenylate cyclase activity (GO:0007190)|ATP metabolic process (GO:0046034)|behavioral fear response (GO:0001662)|cAMP-mediated signaling (GO:0019933)|cell-cell signaling (GO:0007267)|cellular response to glucocorticoid stimulus (GO:0071385)|female pregnancy (GO:0007565)|histamine secretion (GO:0001821)|negative regulation of acute inflammatory response to antigenic stimulus (GO:0002865)|negative regulation of acute inflammatory response to non-antigenic stimulus (GO:0002878)|negative regulation of cell cycle (GO:0045786)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of Rho GTPase activity (GO:0034259)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|pituitary gland development (GO:0021983)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of somatostatin secretion (GO:0090274)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasodilation (GO:0045909)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)|regulation of postsynaptic membrane potential (GO:0060078)|regulation of protein localization (GO:0032880)|response to ethanol (GO:0045471)|response to starvation (GO:0042594)|sensory perception of pain (GO:0019233)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|terminal bouton (GO:0043195)	neuropeptide hormone activity (GO:0005184)|peptide hormone receptor binding (GO:0051428)|pituitary adenylate cyclase activating polypeptide activity (GO:0016521)|receptor binding (GO:0005102)|receptor signaling protein activity (GO:0005057)			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						GACTCCGGTTCCCCGGGATCA	0.632																																							uc010dkg.2		NA																	0					0						c.(97-99)TTC>TTT		adenylate cyclase activating polypeptide							44.0	44.0	44.0					18																	905486		2203	4300	6503	SO:0001819	synonymous_variant	116				activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|peptide hormone receptor binding	g.chr18:905486C>T	S83513	CCDS11825.1	18p11	2013-02-28			ENSG00000141433	ENSG00000141433		"""Endogenous ligands"""	241	protein-coding gene	gene with protein product	"""prepro-PACAP"""	102980				1730060	Standard	NM_001099733		Approved	PACAP	uc010dkh.4	P18509	OTTHUMG00000131479	ENST00000579794.1:c.99C>T	18.37:g.905486C>T						ADCYAP1_uc010dkh.2_Silent_p.F33F	p.F33F	NM_001099733	NP_001093203	P18509	PACA_HUMAN			2	218	+			33					B2R7N4|Q52LQ0	Silent	SNP	ENST00000579794.1	37	c.99C>T	CCDS11825.1																																																																																				0.632	ADCYAP1-003	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440765.3	NM_001117		13	38	0	0	0	0.001368	0	13	38				
EMILIN2	84034	broad.mit.edu	37	18	2891683	2891683	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr18:2891683G>T	ENST00000254528.3	+	4	1717	c.1558G>T	c.(1558-1560)Ggg>Tgg	p.G520W		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	520					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CAGTCCCCCAGGGGCAGCAGC	0.507																																							uc002kln.2		NA																	0				skin(2)|ovary(1)	3						c.(1558-1560)GGG>TGG		elastin microfibril interfacer 2 precursor							61.0	66.0	64.0					18																	2891683		2203	4300	6503	SO:0001583	missense	84034				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	g.chr18:2891683G>T	AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"""EMI domain containing"""	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.1558G>T	18.37:g.2891683G>T	ENSP00000254528:p.Gly520Trp						p.G520W	NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN		READ - Rectum adenocarcinoma(2;0.1)	4	1717	+			520					B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP	ENST00000254528.3	37	c.1558G>T	CCDS11828.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.915685	0.52546	.	.	ENSG00000132205	ENST00000254528	T	0.39406	1.08	5.4	3.6	0.41247	.	.	.	.	.	T	0.51041	0.1651	L	0.54323	1.7	0.09310	N	1	D	0.58620	0.983	P	0.55667	0.781	T	0.38156	-0.9674	9	0.54805	T	0.06	.	10.6565	0.45678	0.0691:0.0:0.7994:0.1315	.	520	Q9BXX0	EMIL2_HUMAN	W	520	ENSP00000254528:G520W	ENSP00000254528:G520W	G	+	1	0	EMILIN2	2881683	0.010000	0.17322	0.001000	0.08648	0.016000	0.09150	1.793000	0.38764	0.627000	0.30340	0.563000	0.77884	GGG		0.507	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048		17	49	1	0	2.23348e-06	0.004007	2.71339e-06	17	49				
LAMA1	284217	broad.mit.edu	37	18	6965403	6965403	+	Missense_Mutation	SNP	C	C	A	rs141811330		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr18:6965403C>A	ENST00000389658.3	-	50	7172	c.7079G>T	c.(7078-7080)cGt>cTt	p.R2360L		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2360	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CACTCTGCCACGAAACAGCTC	0.443																																							uc002knm.2		NA																	0				ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(7078-7080)CGT>CTT		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						103.0	98.0	99.0					18																	6965403		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6965403C>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.7079G>T	18.37:g.6965403C>A	ENSP00000374309:p.Arg2360Leu					LAMA1_uc002knl.2_5'UTR|LAMA1_uc010wzj.1_Missense_Mutation_p.R1836L	p.R2360L	NM_005559	NP_005550	P25391	LAMA1_HUMAN			50	7173	-		Colorectal(10;0.172)	2360			Laminin G-like 2.			Missense_Mutation	SNP	ENST00000389658.3	37	c.7079G>T	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	11.18	1.561659	0.27915	.	.	ENSG00000101680	ENST00000389658	T	0.79653	-1.29	6.17	2.51	0.30379	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.467738	0.22779	N	0.055753	T	0.79534	0.4462	M	0.73598	2.24	0.27222	N	0.959629	B	0.26147	0.143	B	0.31946	0.138	T	0.72347	-0.4321	10	0.72032	D	0.01	.	9.3241	0.37982	0.0:0.213:0.0:0.787	.	2360	P25391	LAMA1_HUMAN	L	2360	ENSP00000374309:R2360L	ENSP00000374309:R2360L	R	-	2	0	LAMA1	6955403	0.664000	0.27457	0.009000	0.14445	0.089000	0.18198	1.352000	0.34033	0.194000	0.20326	-0.294000	0.09567	CGT		0.443	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		13	56	1	0	0.000308642	0.003163	0.000341227	13	56				
MTCL1	23255	broad.mit.edu	37	18	8798277	8798277	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr18:8798277G>T	ENST00000306329.11	+	8	3381	c.3381G>T	c.(3379-3381)caG>caT	p.Q1127H	SOGA2_ENST00000517570.1_Missense_Mutation_p.Q767H|SOGA2_ENST00000518815.1_Missense_Mutation_p.Q123H|SOGA2_ENST00000400050.3_Missense_Mutation_p.Q767H|SOGA2_ENST00000359865.3_Missense_Mutation_p.Q808H|SOGA2_ENST00000306285.7_Missense_Mutation_p.Q123H																							ACAGGGGACAGCCCCACAAAC	0.627																																							uc002knr.2		NA																	0					0						c.(2422-2424)CAG>CAT		hypothetical protein LOC23255							35.0	31.0	32.0					18																	8798277		2203	4300	6503	SO:0001583	missense	23255							g.chr18:8798277G>T																												ENST00000306329.11:c.3381G>T	18.37:g.8798277G>T	ENSP00000305027:p.Gln1127His					KIAA0802_uc002knq.2_Missense_Mutation_p.Q767H|KIAA0802_uc002kns.2_Missense_Mutation_p.Q138H	p.Q808H	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN			10	2566	+			1118						Missense_Mutation	SNP	ENST00000306329.11	37	c.2424G>T		.	.	.	.	.	.	.	.	.	.	G	11.61	1.688846	0.29962	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050;ENST00000306285	T;T;T;T	0.59364	0.27;0.27;0.27;0.27	5.07	2.26	0.28386	.	0.272209	0.26578	N	0.023600	T	0.46678	0.1405	L	0.43152	1.355	0.09310	N	0.999999	P;B	0.44877	0.845;0.03	B;B	0.41571	0.36;0.017	T	0.36962	-0.9726	10	0.54805	T	0.06	-19.5238	7.7522	0.28904	0.2595:0.0:0.7405:0.0	.	1118;808	Q9Y4B5;Q9Y4B5-3	CC165_HUMAN;.	H	829;767;808;767;123	ENSP00000429556:Q767H;ENSP00000352927:Q808H;ENSP00000382924:Q767H;ENSP00000303670:Q123H	ENSP00000303670:Q123H	Q	+	3	2	CCDC165	8788277	0.159000	0.22864	0.004000	0.12327	0.083000	0.17756	0.814000	0.27239	0.246000	0.21394	0.650000	0.86243	CAG		0.627	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			7	26	1	0	0.00448238	0.004482	0.00476433	7	26				
MC5R	4161	broad.mit.edu	37	18	13826379	13826379	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr18:13826379C>G	ENST00000324750.3	+	1	837	c.615C>G	c.(613-615)taC>taG	p.Y205*	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	205					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						TGTCTCTGTACATACACATGT	0.597																																							uc010xaf.1		NA																	0				ovary(3)|lung(2)|breast(1)	6						c.(613-615)TAC>TAG		melanocortin 5 receptor							505.0	422.0	450.0					18																	13826379		2203	4300	6503	SO:0001587	stop_gained	4161				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	g.chr18:13826379C>G	AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"""GPCR / Class A : Melanocortin receptors"""	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.615C>G	18.37:g.13826379C>G	ENSP00000318077:p.Tyr205*						p.Y205*	NM_005913	NP_005904	P33032	MC5R_HUMAN			1	615	+			205			Helical; Name=5; (Potential).		B0YJ34|Q502V1	Nonsense_Mutation	SNP	ENST00000324750.3	37	c.615C>G	CCDS11868.1	.	.	.	.	.	.	.	.	.	.	C	35	5.452464	0.96223	.	.	ENSG00000176136	ENST00000324750	.	.	.	5.01	-5.21	0.02815	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.974	0.64259	0.0:0.6112:0.0:0.3888	.	.	.	.	X	205	.	ENSP00000318077:Y205X	Y	+	3	2	MC5R	13816379	0.946000	0.32159	0.764000	0.31436	0.913000	0.54294	0.207000	0.17395	-0.979000	0.03529	0.455000	0.32223	TAC		0.597	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254638.1	NM_005913		127	408	0	0	0	0.00361	0	127	408				
ANKRD30B	374860	broad.mit.edu	37	18	14752928	14752928	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr18:14752928C>G	ENST00000358984.4	+	3	607	c.427C>G	c.(427-429)Ctc>Gtc	p.L143V	ANKRD30B_ENST00000447268.2_Missense_Mutation_p.L143V|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	143										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						CAACACGGCTCTCCATTATGC	0.433																																							uc010dlo.2		NA																	0				ovary(1)|skin(1)	2						c.(427-429)CTC>GTC		ankyrin repeat domain 30B							187.0	161.0	169.0					18																	14752928		692	1591	2283	SO:0001583	missense	374860							g.chr18:14752928C>G	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.427C>G	18.37:g.14752928C>G	ENSP00000351875:p.Leu143Val					ANKRD30B_uc010xak.1_RNA	p.L143V	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN			3	607	+			143			ANK 3.		B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	37	c.427C>G	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	N	7.759	0.705056	0.15172	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	D;D	0.91237	-2.81;-2.81	1.61	0.712	0.18167	.	.	.	.	.	D	0.89051	0.6605	M	0.90309	3.105	0.29964	N	0.819154	P	0.39326	0.668	B	0.31614	0.133	D	0.84345	0.0529	9	0.72032	D	0.01	.	5.9011	0.18967	0.0:0.666:0.334:0.0	.	143	F8WAG3	.	V	143	ENSP00000351875:L143V;ENSP00000399031:L143V	ENSP00000351875:L143V	L	+	1	0	ANKRD30B	14742928	0.876000	0.30132	0.042000	0.18584	0.005000	0.04900	1.223000	0.32527	0.259000	0.21709	-0.726000	0.03593	CTC		0.433	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		2	6	0	0	0	0.004672	0	2	6				
ANKRD30B	374860	broad.mit.edu	37	18	14799128	14799128	+	Splice_Site	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr18:14799128G>T	ENST00000358984.4	+	21	2238	c.2058G>T	c.(2056-2058)aaG>aaT	p.K686N	ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	686										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						GTCTTCTGAAGGTAATAACTT	0.294																																							uc010dlo.2		NA																	0				ovary(1)|skin(1)	2						c.(2056-2058)AAG>AAT		ankyrin repeat domain 30B							82.0	60.0	67.0					18																	14799128		692	1582	2274	SO:0001630	splice_region_variant	374860							g.chr18:14799128G>T	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.2058+1G>T	18.37:g.14799128G>T						ANKRD30B_uc010xak.1_RNA	p.K686N	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN			21	2238	+			737					B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	37	c.2058G>T	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	N	5.542	0.284969	0.10513	.	.	ENSG00000180777	ENST00000358984	T	0.06294	3.32	0.968	0.968	0.19680	.	.	.	.	.	T	0.07548	0.0190	L	0.27053	0.805	0.09310	N	0.999998	P	0.42039	0.769	P	0.49332	0.607	T	0.33343	-0.9872	9	0.72032	D	0.01	.	5.3184	0.15868	0.0:0.0:1.0:0.0	.	686	F8WAG3	.	N	686	ENSP00000351875:K686N	ENSP00000351875:K686N	K	+	3	2	ANKRD30B	14789128	1.000000	0.71417	0.083000	0.20561	0.015000	0.08874	2.083000	0.41615	0.825000	0.34637	0.384000	0.25694	AAG		0.294	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029	Missense_Mutation	4	38	1	0	0.00024832	0.009096	0.000277424	4	38				
GATA6	2627	broad.mit.edu	37	18	19751152	19751152	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr18:19751152C>A	ENST00000269216.3	+	2	324	c.47C>A	c.(46-48)gCc>gAc	p.A16D	GATA6_ENST00000581694.1_Missense_Mutation_p.A16D|GATA6-AS1_ENST00000583490.1_lincRNA	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	16					blood coagulation (GO:0007596)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cellular response to BMP stimulus (GO:0071773)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to hypoxia (GO:0071456)|Clara cell differentiation (GO:0060486)|endodermal cell fate determination (GO:0007493)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|liver development (GO:0001889)|lung saccule development (GO:0060430)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta1 production (GO:0032911)|negative regulation of transforming growth factor beta2 production (GO:0032912)|organ formation (GO:0048645)|outflow tract septum morphogenesis (GO:0003148)|pancreatic A cell differentiation (GO:0003310)|phospholipid metabolic process (GO:0006644)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to growth factor (GO:0070848)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)|tube morphogenesis (GO:0035239)|type B pancreatic cell differentiation (GO:0003309)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			CGCTTCGGGGCCGCGGGTGCG	0.716																																					Colon(8;48 282 46199 46856)|Melanoma(177;170 2725 12489 26999)	Colon(8;48 282 46199 46856)|Melanoma(177;170 2725 12489 26999)	uc002ktt.1		NA																	0				central_nervous_system(3)	3						c.(46-48)GCC>GAC		GATA binding protein 6							13.0	14.0	14.0					18																	19751152		2108	4159	6267	SO:0001583	missense	2627				blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr18:19751152C>A	U66075	CCDS11872.1	18q11-q12	2013-01-25	2001-11-28		ENSG00000141448	ENSG00000141448		"""GATA zinc finger domain containing"""	4174	protein-coding gene	gene with protein product		601656	"""GATA-binding protein 6"""			8975704	Standard	XM_005258248		Approved		uc002ktt.2	Q92908	OTTHUMG00000131767	ENST00000269216.3:c.47C>A	18.37:g.19751152C>A	ENSP00000269216:p.Ala16Asp					GATA6_uc002ktu.1_Missense_Mutation_p.A16D	p.A16D	NM_005257	NP_005248	Q92908	GATA6_HUMAN	STAD - Stomach adenocarcinoma(5;0.106)		2	312	+	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		16					B0YJ17|P78327	Missense_Mutation	SNP	ENST00000269216.3	37	c.47C>A	CCDS11872.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.569698	0.65765	.	.	ENSG00000141448	ENST00000269216	D	0.98701	-5.08	3.43	3.43	0.39272	.	.	.	.	.	D	0.95872	0.8656	N	0.24115	0.695	0.32396	N	0.552568	P	0.52316	0.952	B	0.43445	0.42	D	0.95984	0.8980	9	0.72032	D	0.01	-1.4627	10.2299	0.43250	0.0:1.0:0.0:0.0	.	16	Q92908	GATA6_HUMAN	D	16	ENSP00000269216:A16D	ENSP00000269216:A16D	A	+	2	0	GATA6	18005150	0.990000	0.36364	0.999000	0.59377	0.570000	0.35934	0.969000	0.29370	1.732000	0.51606	0.455000	0.32223	GCC		0.716	GATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254696.1	NM_005257		10	18	1	0	3.86212e-05	0.008291	4.42789e-05	10	18				
DSG2	1829	broad.mit.edu	37	18	29111197	29111197	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr18:29111197G>C	ENST00000261590.8	+	9	1471	c.1262G>C	c.(1261-1263)gGa>gCa	p.G421A		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	421	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			GAGGACACTGGACTACCAGCC	0.348																																							uc002kwu.3		NA																	0				central_nervous_system(5)|ovary(2)|breast(1)|skin(1)	9						c.(1261-1263)GGA>GCA		desmoglein 2 preproprotein							112.0	101.0	104.0					18																	29111197		1868	4100	5968	SO:0001583	missense	1829				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:29111197G>C	Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.1262G>C	18.37:g.29111197G>C	ENSP00000261590:p.Gly421Ala						p.G421A	NM_001943	NP_001934	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)		9	1450	+			421			Extracellular (Potential).|Cadherin 4.		Q4KKU6	Missense_Mutation	SNP	ENST00000261590.8	37	c.1262G>C	CCDS42423.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.372133	0.42003	.	.	ENSG00000046604	ENST00000261590	T	0.54866	0.55	5.02	5.02	0.67125	Cadherin (4);Cadherin-like (1);	0.000000	0.56097	D	0.000025	T	0.73273	0.3566	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71537	-0.4563	10	0.33141	T	0.24	.	18.5187	0.90944	0.0:0.0:1.0:0.0	.	421	Q14126	DSG2_HUMAN	A	421	ENSP00000261590:G421A	ENSP00000261590:G421A	G	+	2	0	DSG2	27365195	1.000000	0.71417	0.977000	0.42913	0.168000	0.22595	3.114000	0.50383	2.606000	0.88127	0.491000	0.48974	GGA		0.348	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943		22	53	0	0	0	0.00632	0	22	53				
CCDC178	374864	broad.mit.edu	37	18	30791939	30791939	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr18:30791939C>A	ENST00000383096.3	-	20	2341	c.2159G>T	c.(2158-2160)tGt>tTt	p.C720F	CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000300227.8_Missense_Mutation_p.C682F|CCDC178_ENST00000402325.1_Missense_Mutation_p.C720F|CCDC178_ENST00000583930.1_Missense_Mutation_p.C720F|CCDC178_ENST00000406524.2_Missense_Mutation_p.C720F|CCDC178_ENST00000403303.1_Missense_Mutation_p.C720F|CCDC178_ENST00000579947.1_Missense_Mutation_p.C720F			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	720																	TCTCTCTTCACAGTCTTTTTT	0.333																																							uc002kxn.2		NA																	0				ovary(1)	1						c.(2158-2160)TGT>TTT		hypothetical protein LOC374864 isoform 1							108.0	102.0	104.0					18																	30791939		2201	4300	6501	SO:0001583	missense	374864							g.chr18:30791939C>A	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.2159G>T	18.37:g.30791939C>A	ENSP00000372576:p.Cys720Phe					C18orf34_uc010dme.1_Missense_Mutation_p.C234F|C18orf34_uc010xbr.1_Missense_Mutation_p.C720F|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.C682F|C18orf34_uc002kxp.2_Missense_Mutation_p.C720F	p.C720F	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN			19	2301	-			720					A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	ENST00000383096.3	37	c.2159G>T	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	C	3.798	-0.042329	0.07452	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325	T;T;T;T;T	0.19532	2.27;2.27;2.26;2.26;2.14	3.97	3.1	0.35709	.	.	.	.	.	T	0.27454	0.0674	L	0.50333	1.59	0.20821	N	0.999845	D;D;D;D;D	0.53462	0.959;0.96;0.959;0.959;0.959	P;P;P;P;P	0.57009	0.811;0.773;0.811;0.811;0.811	T	0.07139	-1.0788	9	0.10111	T	0.7	-4.5892	7.618	0.28169	0.0:0.8848:0.0:0.1152	.	720;720;720;682;720	F8W7A7;Q5BJE1-3;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;.;CR034_HUMAN	F	720;720;682;720;720	ENSP00000385591:C720F;ENSP00000372576:C720F;ENSP00000300227:C682F;ENSP00000385867:C720F;ENSP00000385234:C720F	ENSP00000300227:C682F	C	-	2	0	C18orf34	29045937	0.254000	0.23992	0.227000	0.23927	0.016000	0.09150	0.241000	0.18065	1.267000	0.44247	0.591000	0.81541	TGT		0.333	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		7	13	1	0	1.26484e-09	0.00308	1.72553e-09	7	13				
SETBP1	26040	broad.mit.edu	37	18	42281594	42281594	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr18:42281594G>T	ENST00000282030.5	+	2	579	c.283G>T	c.(283-285)Gag>Tag	p.E95*	SETBP1_ENST00000426838.4_Nonsense_Mutation_p.E95*	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	95						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TTCTATCAAGGAGGCAAACTT	0.478									Schinzel-Giedion syndrome																														uc010dni.2		NA																	0				upper_aerodigestive_tract(2)|large_intestine(1)	3						c.(283-285)GAG>TAG		SET binding protein 1 isoform a							108.0	104.0	106.0					18																	42281594		2203	4300	6503	SO:0001587	stop_gained	26040	Schinzel-Giedion_syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42281594G>T	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.283G>T	18.37:g.42281594G>T	ENSP00000282030:p.Glu95*					SETBP1_uc002lay.2_Nonsense_Mutation_p.E95*	p.E95*	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	2	579	+			95					A6H8W5|Q6P6C3|Q9UEF3	Nonsense_Mutation	SNP	ENST00000282030.5	37	c.283G>T	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	G	41	8.599953	0.98879	.	.	ENSG00000152217	ENST00000426838;ENST00000282030;ENST00000552979	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.0912	0.97820	0.0:0.0:1.0:0.0	.	.	.	.	X	95	.	ENSP00000282030:E95X	E	+	1	0	SETBP1	40535592	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.771000	0.98977	2.746000	0.94184	0.591000	0.81541	GAG		0.478	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		25	40	1	0	5.45727e-16	0.008361	8.60547e-16	25	40				
SLC14A2	8170	broad.mit.edu	37	18	43204627	43204627	+	5'UTR	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr18:43204627G>T	ENST00000255226.6	+	0	814				SLC14A2_ENST00000586448.1_5'UTR	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2						transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTGACCCGAAGGAATGTCTGA	0.577																																							uc010dnj.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(-4-0)AAGGA>AATGA		solute carrier family 14 (urea transporter),							51.0	49.0	50.0					18																	43204627		2203	4300	6503	SO:0001623	5_prime_UTR_variant	8170					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	g.chr18:43204627G>T	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"""Solute carriers"""	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.-3G>T	18.37:g.43204627G>T						SLC14A2_uc002lbb.2_Translation_Start_Site|SLC14A2_uc002lbe.2_Translation_Start_Site		NM_007163	NP_009094	Q15849	UT2_HUMAN			3	319	+								A8K8Q7|Q2TBD6|Q96PH5	Translation_Start_Site	SNP	ENST00000255226.6	37	c.-2G>T	CCDS11924.1																																																																																				0.577	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1			19	24	1	0	4.76136e-26	0.00278	8.31979e-26	19	24				
DYM	54808	broad.mit.edu	37	18	46812949	46812949	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr18:46812949G>T	ENST00000269445.6	-	9	1258	c.801C>A	c.(799-801)ggC>ggA	p.G267G	DYM_ENST00000442713.2_Silent_p.G77G	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	267					bone development (GO:0060348)|Golgi organization (GO:0007030)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	enzyme binding (GO:0019899)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						CCGCTTTGCTGCCCACACCAC	0.537																																							uc002ldi.1		NA																	0					0						c.(799-801)GGC>GGA		dymeclin							47.0	46.0	46.0					18																	46812949		2203	4300	6503	SO:0001819	synonymous_variant	54808					Golgi apparatus		g.chr18:46812949G>T	AK000078	CCDS11937.1	18q21.1	2008-03-12			ENSG00000141627	ENSG00000141627			21317	protein-coding gene	gene with protein product		607461					Standard	NM_017653		Approved	FLJ20071, DMC, SMC	uc002ldi.1	Q7RTS9	OTTHUMG00000132659	ENST00000269445.6:c.801C>A	18.37:g.46812949G>T						DYM_uc010xdf.1_Silent_p.G77G|DYM_uc002ldj.3_Silent_p.G89G	p.G267G	NM_017653	NP_060123	Q7RTS9	DYM_HUMAN			9	1166	-			267					A8K5I8|B2RCF9|B4DKI7|Q3ZTS8|Q6P2P5|Q8N2M0|Q9BVE9|Q9NPU7	Silent	SNP	ENST00000269445.6	37	c.801C>A	CCDS11937.1																																																																																				0.537	DYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255912.3	NM_017653		7	17	1	0	0.000157383	0.00308	0.000177026	7	17				
TCF4	6925	broad.mit.edu	37	18	52896169	52896169	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr18:52896169C>A	ENST00000356073.4	-	18	2387	c.1776G>T	c.(1774-1776)caG>caT	p.Q592H	TCF4_ENST00000565018.2_Missense_Mutation_p.Q596H|TCF4_ENST00000564403.2_Missense_Mutation_p.Q602H|TCF4_ENST00000457482.3_Missense_Mutation_p.Q436H|TCF4_ENST00000544241.2_Missense_Mutation_p.Q525H|TCF4_ENST00000566286.1_Missense_Mutation_p.Q589H|TCF4_ENST00000564228.1_Missense_Mutation_p.Q521H|TCF4_ENST00000540999.1_Missense_Mutation_p.Q568H|TCF4_ENST00000398339.1_Missense_Mutation_p.Q698H|TCF4_ENST00000570287.2_Missense_Mutation_p.Q432H|TCF4_ENST00000537578.1_Missense_Mutation_p.Q572H|TCF4_ENST00000568740.1_Missense_Mutation_p.Q567H|TCF4_ENST00000570177.2_Missense_Mutation_p.Q462H|TCF4_ENST00000561992.1_Missense_Mutation_p.Q462H|TCF4_ENST00000568673.1_Missense_Mutation_p.Q572H|TCF4_ENST00000561831.3_Missense_Mutation_p.Q432H|TCF4_ENST00000537856.3_Missense_Mutation_p.Q462H|TCF4_ENST00000564999.1_Missense_Mutation_p.Q592H|TCF4_ENST00000543082.1_Missense_Mutation_p.Q550H|TCF4_ENST00000354452.3_Missense_Mutation_p.Q596H|TCF4_ENST00000567880.1_Missense_Mutation_p.Q532H|TCF4_ENST00000566279.1_Missense_Mutation_p.Q536H	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	592	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				DNA-templated transcription, initiation (GO:0006352)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		TGAGGTGGAGCTGCACCATGC	0.612																																							uc002lfz.2		NA																	0				ovary(1)|lung(1)	2						c.(1774-1776)CAG>CAT		transcription factor 4 isoform b							121.0	104.0	110.0					18																	52896169		2203	4300	6503	SO:0001583	missense	6925				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding	g.chr18:52896169C>A	M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628		"""Basic helix-loop-helix proteins"""	11634	protein-coding gene	gene with protein product		602272				9302263, 2308860	Standard	NM_001083962		Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000356073.4:c.1776G>T	18.37:g.52896169C>A	ENSP00000348374:p.Gln592His					TCF4_uc002lfw.3_Missense_Mutation_p.Q436H|TCF4_uc010xdu.1_Missense_Mutation_p.Q462H|TCF4_uc010xdv.1_Missense_Mutation_p.Q462H|TCF4_uc002lfx.2_Missense_Mutation_p.Q525H|TCF4_uc010xdw.1_Missense_Mutation_p.Q462H|TCF4_uc002lfy.2_Missense_Mutation_p.Q550H|TCF4_uc010xdx.1_Missense_Mutation_p.Q568H|TCF4_uc010dph.1_Missense_Mutation_p.Q596H|TCF4_uc010xdy.1_Missense_Mutation_p.Q572H|TCF4_uc002lga.2_Missense_Mutation_p.Q698H|TCF4_uc002lgb.1_Missense_Mutation_p.Q432H|TCF4_uc010dpi.2_Missense_Mutation_p.Q602H|TCF4_uc002lfv.2_Missense_Mutation_p.Q375H	p.Q592H	NM_003199	NP_003190	P15884	ITF2_HUMAN		Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)	18	2388	-			592			Helix-loop-helix motif.		B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Missense_Mutation	SNP	ENST00000356073.4	37	c.1776G>T	CCDS11960.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.115345	0.77323	.	.	ENSG00000196628	ENST00000354452;ENST00000457482;ENST00000356073;ENST00000543082;ENST00000540999;ENST00000537578;ENST00000544241;ENST00000537856;ENST00000398339	D;D;D;D;D;D;D;D;D	0.97906	-4.6;-4.6;-4.6;-4.6;-4.6;-4.6;-4.6;-4.6;-4.6	5.79	3.02	0.34903	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.97996	0.9340	M	0.72479	2.2	0.52099	D	0.999946	P;P;P;P;D;P;D;D;P	0.62365	0.94;0.723;0.723;0.749;0.991;0.88;0.974;0.988;0.845	D;P;P;P;D;P;D;D;P	0.75484	0.951;0.78;0.79;0.76;0.986;0.902;0.951;0.977;0.78	D	0.97567	1.0102	10	0.87932	D	0	-8.8002	8.264	0.31801	0.0:0.6902:0.0:0.3098	.	572;596;432;698;592;550;525;436;589	B7Z5M6;G0LNT9;G0LNV1;E9PH57;P15884;B3KUC0;B3KT62;G0LNU9;G0LNU5	.;.;.;.;ITF2_HUMAN;.;.;.;.	H	596;436;592;550;568;572;525;462;698	ENSP00000346440:Q596H;ENSP00000409447:Q436H;ENSP00000348374:Q592H;ENSP00000439656:Q550H;ENSP00000445202:Q568H;ENSP00000440731:Q572H;ENSP00000441562:Q525H;ENSP00000439827:Q462H;ENSP00000381382:Q698H	ENSP00000346440:Q596H	Q	-	3	2	TCF4	51047167	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.156000	0.42310	0.788000	0.33755	0.563000	0.77884	CAG		0.612	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256014.1	NM_003199		23	27	1	0	4.7796e-09	0.004656	6.37996e-09	23	27				
CCBE1	147372	broad.mit.edu	37	18	57106909	57106909	+	Splice_Site	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr18:57106909C>T	ENST00000439986.4	-	8	952	c.915G>A	c.(913-915)gtG>gtA	p.V305V	CCBE1_ENST00000398179.2_Intron	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	305	Collagen-like 2.				lymphangiogenesis (GO:0001946)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of protein processing (GO:0010954)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|positive regulation vascular endothelial growth factor production (GO:0010575)|sprouting angiogenesis (GO:0002040)|venous blood vessel morphogenesis (GO:0048845)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|protease binding (GO:0002020)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				AGATACTGACCACAGGGCCCC	0.542																																					NSCLC(137;1340 1860 15773 39604 51087)|Esophageal Squamous(139;339 1777 2926 19691 38524)	NSCLC(137;1340 1860 15773 39604 51087)|Esophageal Squamous(139;339 1777 2926 19691 38524)	uc002lib.2		NA																	0				skin(2)|ovary(1)	3						c.(913-915)GTG>GTA		collagen and calcium binding EGF domains 1							111.0	114.0	113.0					18																	57106909		2203	4300	6503	SO:0001630	splice_region_variant	147372				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding	g.chr18:57106909C>T	AB075863	CCDS32838.1	18q21.32	2005-01-18				ENSG00000183287			29426	protein-coding gene	gene with protein product		612753				11853319, 12975309	Standard	NM_133459		Approved	FLJ30681, KIAA1983	uc002lib.3	Q6UXH8		ENST00000439986.4:c.915+1G>A	18.37:g.57106909C>T						CCBE1_uc010dpq.2_Intron|CCBE1_uc002lia.2_Silent_p.V158V	p.V305V	NM_133459	NP_597716	Q6UXH8	CCBE1_HUMAN			8	985	-		Colorectal(73;0.175)	305			Collagen-like 2.		Q6MZX5|Q86SS2|Q8TF19	Silent	SNP	ENST00000439986.4	37	c.915G>A	CCDS32838.1																																																																																				0.542	CCBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449685.2	NM_133459	Silent	20	60	0	0	0	0.002299	0	20	60				
DSEL	92126	broad.mit.edu	37	18	65178663	65178663	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr18:65178663C>A	ENST00000310045.7	-	2	4686	c.3213G>T	c.(3211-3213)ttG>ttT	p.L1071F	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1061					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				CTATTTTAAACAATTTTGCTA	0.333																																							uc002lke.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6						c.(3211-3213)TTG>TTT		dermatan sulfate epimerase-like							57.0	59.0	58.0					18																	65178663		2203	4299	6502	SO:0001583	missense	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65178663C>A	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.3213G>T	18.37:g.65178663C>A	ENSP00000310565:p.Leu1071Phe						p.L1071F	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN			2	4437	-		Esophageal squamous(42;0.129)	1061					Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	c.3213G>T	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.852798	0.51270	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.26660	1.72	4.64	2.7	0.31948	Sulfotransferase domain (1);	0.473430	0.17919	U	0.157569	T	0.20495	0.0493	L	0.47716	1.5	0.28405	N	0.91848	P	0.42456	0.78	B	0.40444	0.329	T	0.13980	-1.0489	10	0.72032	D	0.01	-5.8785	5.1747	0.15129	0.0:0.601:0.1707:0.2283	.	1061	Q8IZU8	DSEL_HUMAN	F	1071;1061	ENSP00000310565:L1071F	ENSP00000310565:L1071F	L	-	3	2	DSEL	63329643	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	0.651000	0.24873	2.292000	0.77174	0.558000	0.71614	TTG		0.333	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		10	17	1	0	2.17888e-05	0.006214	2.52532e-05	10	17				
ZNF236	7776	broad.mit.edu	37	18	74610973	74610973	+	Splice_Site	SNP	A	A	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr18:74610973A>G	ENST00000253159.8	+	11	1882		c.e11-1		ZNF236_ENST00000320610.9_Splice_Site	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236						cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CATTTTTATTAGGAGTTAGAC	0.323																																							uc002lmi.2		NA																	0				ovary(4)	4						c.e11-2		zinc finger protein 236							89.0	82.0	84.0					18																	74610973		1822	4081	5903	SO:0001630	splice_region_variant	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74610973A>G	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.1685-1A>G	18.37:g.74610973A>G						ZNF236_uc002lmj.2_Splice_Site	p.G562_splice	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	11	1883	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)						B2RTX9|Q9UL37	Splice_Site	SNP	ENST00000253159.8	37	c.1685_splice	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.963728	0.74016	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8972	0.70651	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF236	72739961	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	8.999000	0.93557	1.928000	0.55862	0.482000	0.46254	.		0.323	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1		Intron	14	16	0	0	0	0.003163	0	14	16				
FZR1	51343	broad.mit.edu	37	19	3527758	3527758	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:3527758G>T	ENST00000395095.3	+	6	600	c.600G>T	c.(598-600)gtG>gtT	p.V200V	FZR1_ENST00000313639.8_Intron|FZR1_ENST00000441788.2_Silent_p.V200V	NM_001136198.1	NP_001129670.1	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	200					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|lens fiber cell differentiation (GO:0070306)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell aging (GO:0090344)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCTCAATGTGCTCAGCGTGG	0.632																																							uc010dtk.2		NA																	0				lung(1)|kidney(1)	2						c.(598-600)GTG>GTT		Fzr1 protein isoform 1							133.0	111.0	118.0					19																	3527758		2201	4297	6498	SO:0001819	synonymous_variant	51343				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding	g.chr19:3527758G>T	AF083810	CCDS12109.1, CCDS45916.1, CCDS45917.1	19p13.3	2013-01-10				ENSG00000105325		"""WD repeat domain containing"""	24824	protein-coding gene	gene with protein product		603619				9734353, 11003657	Standard	NM_016263		Approved	HCDH1, CDH1, HCDH, FZR, FZR2, KIAA1242, CDC20C	uc010dtk.2	Q9UM11		ENST00000395095.3:c.600G>T	19.37:g.3527758G>T						FZR1_uc002lxt.2_Silent_p.V200V|FZR1_uc002lxv.2_Intron	p.V200V	NM_001136198	NP_001129670	Q9UM11	FZR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	6	634	+			200			WD 1.		O75869|Q86U66|Q96NW8|Q9UI96|Q9ULH8|Q9UM10|Q9UNQ1|Q9Y2T8	Silent	SNP	ENST00000395095.3	37	c.600G>T	CCDS45916.1																																																																																				0.632	FZR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452869.2	NM_016263		10	18	1	0	2.80697e-09	0.000978	3.77735e-09	10	18				
PIP5K1C	23396	broad.mit.edu	37	19	3642905	3642905	+	Splice_Site	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:3642905C>G	ENST00000335312.3	-	14	1770	c.1682G>C	c.(1681-1683)aGg>aCg	p.R561T	PIP5K1C_ENST00000539785.1_Splice_Site_p.R561T|PIP5K1C_ENST00000537021.1_Splice_Site_p.R561T|PIP5K1C_ENST00000589578.1_Splice_Site_p.R561T	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	561					actin cytoskeleton organization (GO:0030036)|adherens junction assembly (GO:0034333)|axon guidance (GO:0007411)|clathrin-mediated endocytosis (GO:0072583)|cytoskeletal anchoring at plasma membrane (GO:0007016)|neutrophil chemotaxis (GO:0030593)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet aggregation (GO:0070527)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		TGGGTCTCACCTGCCATCCTG	0.627																																					Esophageal Squamous(135;99 1744 12852 27186 39851)	Esophageal Squamous(135;99 1744 12852 27186 39851)	uc002lyj.1		NA																	0				stomach(2)|skin(2)	4						c.(1681-1683)AGG>ACG		phosphatidylinositol-4-phosphate 5-kinase, type							87.0	100.0	96.0					19																	3642905		2203	4300	6503	SO:0001630	splice_region_variant	23396				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding	g.chr19:3642905C>G	AB011161	CCDS32872.1, CCDS56074.1, CCDS74257.1	19p13.3	2012-10-02			ENSG00000186111	ENSG00000186111			8996	protein-coding gene	gene with protein product		606102				9535851	Standard	NM_001195733		Approved	PIP5Kgamma, KIAA0589, LCCS3	uc002lyj.2	O60331	OTTHUMG00000180870	ENST00000335312.3:c.1682+1G>C	19.37:g.3642905C>G						PIP5K1C_uc010xhq.1_Missense_Mutation_p.R561T|PIP5K1C_uc010xhr.1_Missense_Mutation_p.R561T	p.R561T	NM_012398	NP_036530	O60331	PI51C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)	14	1739	-		Hepatocellular(1079;0.137)	561					B7Z9E7|C6GIJ7|C6GIJ8|Q7LE07	Missense_Mutation	SNP	ENST00000335312.3	37	c.1682G>C	CCDS32872.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.224129	0.58668	.	.	ENSG00000186111	ENST00000335312;ENST00000539785;ENST00000537021	T;T;T	0.32515	1.51;1.53;1.45	4.66	4.66	0.58398	.	0.124940	0.52532	U	0.000078	T	0.28928	0.0718	L	0.46157	1.445	0.52501	D	0.999957	B;B	0.31026	0.06;0.304	B;B	0.29716	0.01;0.106	T	0.05818	-1.0862	9	.	.	.	-16.1129	16.5222	0.84320	0.0:1.0:0.0:0.0	.	561;561	O60331-3;O60331	.;PI51C_HUMAN	T	561	ENSP00000335333:R561T;ENSP00000445992:R561T;ENSP00000444779:R561T	.	R	-	2	0	PIP5K1C	3593905	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	6.313000	0.72844	2.131000	0.65755	0.555000	0.69702	AGG		0.627	PIP5K1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453432.2	NM_012398	Missense_Mutation	19	42	0	0	0	0.003954	0	19	42				
ZNRF4	148066	broad.mit.edu	37	19	5455761	5455761	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:5455761C>A	ENST00000222033.4	+	1	336	c.259C>A	c.(259-261)Ctg>Atg	p.L87M		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	87						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CAAAGCCTTGCTGGTCTTGTC	0.672																																							uc002mca.3		NA																	0				large_intestine(2)	2						c.(259-261)CTG>ATG		zinc and ring finger 4 precursor							46.0	55.0	52.0					19																	5455761		2123	4213	6336	SO:0001583	missense	148066					integral to membrane	zinc ion binding	g.chr19:5455761C>A	AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"""RING-type (C3HC4) zinc fingers"""	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.259C>A	19.37:g.5455761C>A	ENSP00000222033:p.Leu87Met						p.L87M	NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)	1	336	+			87			Extracellular (Potential).		A8K886|O75866	Missense_Mutation	SNP	ENST00000222033.4	37	c.259C>A	CCDS42475.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.939684	0.34189	.	.	ENSG00000105428	ENST00000222033	T	0.06142	3.34	2.25	1.1	0.20463	.	0.786745	0.10100	U	0.716112	T	0.16041	0.0386	M	0.65498	2.005	0.09310	N	1	D	0.64830	0.994	P	0.59761	0.863	T	0.13415	-1.0510	10	0.52906	T	0.07	.	6.4433	0.21861	0.0:0.6908:0.3092:0.0	.	87	Q8WWF5	ZNRF4_HUMAN	M	87	ENSP00000222033:L87M	ENSP00000222033:L87M	L	+	1	2	ZNRF4	5406761	0.018000	0.18449	0.007000	0.13788	0.058000	0.15608	0.116000	0.15561	0.452000	0.26830	0.313000	0.20887	CTG		0.672	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	NM_181710		17	38	1	0	2.48551e-13	0.00499	3.722e-13	17	38				
EVI5L	115704	broad.mit.edu	37	19	7916418	7916418	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:7916418C>T	ENST00000270530.4	+	7	1048	c.852C>T	c.(850-852)ttC>ttT	p.F284F	EVI5L_ENST00000538904.2_Silent_p.F284F	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	284	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				negative regulation of cilium assembly (GO:1902018)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						TGACCACCTTCCCACTCCCCG	0.587																																							uc002min.2		NA																	0				ovary(1)	1						c.(850-852)TTC>TTT		ecotropic viral integration site 5-like isoform							291.0	205.0	234.0					19																	7916418		2203	4300	6503	SO:0001819	synonymous_variant	115704					intracellular	protein binding|Rab GTPase activator activity	g.chr19:7916418C>T	BC014111	CCDS12188.1, CCDS54209.1	19p13	2013-07-09				ENSG00000142459			30464	protein-coding gene	gene with protein product						23669355	Standard	NM_001159944		Approved		uc010xjz.2	Q96CN4		ENST00000270530.4:c.852C>T	19.37:g.7916418C>T						EVI5L_uc010xjz.1_Silent_p.F284F|EVI5L_uc002mio.1_Silent_p.F15F	p.F284F	NM_145245	NP_660288	Q96CN4	EVI5L_HUMAN			7	1006	+			284			Rab-GAP TBC.		B9A6I9	Silent	SNP	ENST00000270530.4	37	c.852C>T	CCDS12188.1																																																																																				0.587	EVI5L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461347.1	NM_145245		9	75	0	0	0	0.001855	0	9	75				
MUC16	94025	broad.mit.edu	37	19	8982316	8982316	+	Missense_Mutation	SNP	C	C	A	rs531478543		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:8982316C>A	ENST00000397910.4	-	70	42162	c.41959G>T	c.(41959-41961)Ggt>Tgt	p.G13987C	MUC16_ENST00000380951.5_Missense_Mutation_p.G628C	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14012	SEA 13. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCTCAGCACCGTTCTTCACA	0.587																																							uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(41959-41961)GGT>TGT		mucin 16							70.0	71.0	71.0					19																	8982316		2083	4204	6287	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8982316C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.41959G>T	19.37:g.8982316C>A	ENSP00000381008:p.Gly13987Cys					MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.G804C|MUC16_uc010xki.1_RNA	p.G13987C	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			70	42163	-			14012	Missing (in Ref. 3; AAK74120).		Extracellular (Potential).|SEA 13.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.41959G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	C	7.717	0.696395	0.15106	.	.	ENSG00000181143	ENST00000397910;ENST00000380951	T;T	0.34859	1.34;1.34	3.89	1.7	0.24286	SEA (1);	0.504438	0.14850	N	0.294721	T	0.58708	0.2141	M	0.87547	2.89	.	.	.	D;D	0.89917	0.999;1.0	D;D	0.97110	0.937;1.0	T	0.64487	-0.6396	9	0.72032	D	0.01	.	5.4234	0.16413	0.0:0.6531:0.2312:0.1156	.	21632;13987	Q8WXI7;B5ME49	MUC16_HUMAN;.	C	13987;628	ENSP00000381008:G13987C;ENSP00000370338:G628C	ENSP00000370338:G628C	G	-	1	0	MUC16	8843316	0.000000	0.05858	0.002000	0.10522	0.000000	0.00434	0.057000	0.14279	0.587000	0.29643	-0.224000	0.12420	GGT		0.587	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		16	30	1	0	3.62473e-10	0.001882	5.0186e-10	16	30				
MUC16	94025	broad.mit.edu	37	19	9060335	9060335	+	Silent	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:9060335T>A	ENST00000397910.4	-	3	27314	c.27111A>T	c.(27109-27111)acA>acT	p.T9037T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9039	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACATGACTTGTGTCATGGAGT	0.527																																							uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(27109-27111)ACA>ACT		mucin 16							150.0	141.0	144.0					19																	9060335		2054	4207	6261	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9060335T>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.27111A>T	19.37:g.9060335T>A							p.T9037T	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	27315	-			9039			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.27111A>T	CCDS54212.1																																																																																				0.527	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		14	22	0	0	0	0.004007	0	14	22				
MUC16	94025	broad.mit.edu	37	19	9076225	9076225	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:9076225C>G	ENST00000397910.4	-	3	11424	c.11221G>C	c.(11221-11223)Ggg>Cgg	p.G3741R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3742	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGAGATCTCCCAGTGTCCCAG	0.507																																							uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(11221-11223)GGG>CGG		mucin 16							114.0	115.0	114.0					19																	9076225		2014	4177	6191	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9076225C>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.11221G>C	19.37:g.9076225C>G	ENSP00000381008:p.Gly3741Arg						p.G3741R	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	11425	-			3742			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.11221G>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	4.083	0.013407	0.07912	.	.	ENSG00000181143	ENST00000397910	T	0.03607	3.87	1.76	-0.476	0.12100	.	.	.	.	.	T	0.01940	0.0061	N	0.08118	0	.	.	.	B	0.26041	0.14	B	0.21708	0.036	T	0.41805	-0.9488	8	0.87932	D	0	.	4.0599	0.09834	0.0:0.589:0.0:0.411	.	3741	B5ME49	.	R	3741	ENSP00000381008:G3741R	ENSP00000381008:G3741R	G	-	1	0	MUC16	8937225	0.000000	0.05858	0.000000	0.03702	0.144000	0.21451	-0.067000	0.11579	-0.069000	0.12931	0.313000	0.20887	GGG		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		24	44	0	0	0	0.00632	0	24	44				
ZNF563	147837	broad.mit.edu	37	19	12432132	12432132	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:12432132C>T	ENST00000293725.5	-	3	350	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K	ZNF563_ENST00000595977.1_Missense_Mutation_p.E49K	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	49	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GTATTCTGTTCTTCCCATATC	0.313																																					GBM(39;623 795 5132 29510 31476)	GBM(39;623 795 5132 29510 31476)	uc002mtp.2		NA																	0					0						c.(145-147)GAA>AAA		zinc finger protein 563							76.0	68.0	70.0					19																	12432132		2201	4297	6498	SO:0001583	missense	147837				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12432132C>T	BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868		"""Zinc fingers, C2H2-type"", ""-"""	30498	protein-coding gene	gene with protein product							Standard	NM_145276		Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.145G>A	19.37:g.12432132C>T	ENSP00000293725:p.Glu49Lys					ZNF563_uc002mtq.2_Missense_Mutation_p.E49K	p.E49K	NM_145276	NP_660319	Q8TA94	ZN563_HUMAN			3	383	-			49			KRAB.		B2R9E7|Q8NAT7	Missense_Mutation	SNP	ENST00000293725.5	37	c.145G>A	CCDS12270.1	.	.	.	.	.	.	.	.	.	.	C	5.880	0.346531	0.11126	.	.	ENSG00000188868	ENST00000293725;ENST00000318168	T	0.00675	5.88	0.715	0.715	0.18186	Krueppel-associated box (3);	.	.	.	.	T	0.00384	0.0012	N	0.02315	-0.6	0.09310	N	1	B;B	0.26195	0.001;0.144	B;B	0.18263	0.002;0.021	T	0.40720	-0.9548	8	0.11485	T	0.65	.	.	.	.	.	49;49	Q8TA94-2;Q8TA94	.;ZN563_HUMAN	K	49	ENSP00000293725:E49K	ENSP00000293725:E49K	E	-	1	0	ZNF563	12293132	0.004000	0.15560	0.002000	0.10522	0.005000	0.04900	0.797000	0.26999	0.660000	0.30964	0.305000	0.20034	GAA		0.313	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344114.1	NM_145276		7	15	0	0	0	0.00308	0	7	15				
ZNF490	57474	broad.mit.edu	37	19	12691789	12691789	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:12691789C>T	ENST00000311437.6	-	5	1222	c.1100G>A	c.(1099-1101)tGt>tAt	p.C367Y	ZNF490_ENST00000465656.1_5'Flank|CTD-2192J16.20_ENST00000593682.1_Missense_Mutation_p.V1M	NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	367					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						GGCTTCCCCACATTTCTTACA	0.413																																							uc002mtz.2		NA																	0					0						c.(1099-1101)TGT>TAT		zinc finger protein 490							91.0	96.0	94.0					19																	12691789		2203	4300	6503	SO:0001583	missense	57474				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12691789C>T	AB033024	CCDS12272.1	19p13.2	2013-01-08			ENSG00000188033	ENSG00000188033		"""Zinc fingers, C2H2-type"", ""-"""	23705	protein-coding gene	gene with protein product							Standard	NM_020714		Approved	KIAA1198	uc002mtz.2	Q9ULM2	OTTHUMG00000156398	ENST00000311437.6:c.1100G>A	19.37:g.12691789C>T	ENSP00000311521:p.Cys367Tyr						p.C367Y	NM_020714	NP_065765	Q9ULM2	ZN490_HUMAN			5	1229	-			367			C2H2-type 8.			Missense_Mutation	SNP	ENST00000311437.6	37	c.1100G>A	CCDS12272.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.734462	0.48939	.	.	ENSG00000188033	ENST00000311437	D	0.85861	-2.04	0.996	0.996	0.19844	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.91620	0.7352	M	0.86420	2.815	0.35437	D	0.794536	D	0.89917	1.0	D	0.91635	0.999	D	0.92446	0.5966	9	0.66056	D	0.02	.	9.5298	0.39187	0.0:1.0:0.0:0.0	.	367	Q9ULM2	ZN490_HUMAN	Y	367	ENSP00000311521:C367Y	ENSP00000311521:C367Y	C	-	2	0	ZNF490	12552789	1.000000	0.71417	0.095000	0.20976	0.048000	0.14542	4.369000	0.59511	0.842000	0.35045	0.491000	0.48974	TGT		0.413	ZNF490-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344073.1	NM_020714		18	23	0	0	0	0.001882	0	18	23				
OR7A5	26659	broad.mit.edu	37	19	14938234	14938234	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:14938234C>A	ENST00000322301.3	-	2	907	c.820G>T	c.(820-822)Gcc>Tcc	p.A274S	OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Missense_Mutation_p.A274S			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	274					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						ATCACTGAGGCTGTTGCACTT	0.473																																							uc002mzw.2		NA																	0				central_nervous_system(2)	2						c.(820-822)GCC>TCC		olfactory receptor, family 7, subfamily A,							90.0	79.0	83.0					19																	14938234		2203	4300	6503	SO:0001583	missense	26659				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14938234C>A	X64976	CCDS12318.1	19p13.1	2012-08-09	2003-12-09			ENSG00000188269		"""GPCR / Class A : Olfactory receptors"""	8368	protein-coding gene	gene with protein product			"""olfactory receptor, family 7, subfamily A, member 5 pseudogene"""				Standard	XM_006722722		Approved	HTPCR2	uc002mzw.3	Q15622		ENST00000322301.3:c.820G>T	19.37:g.14938234C>A	ENSP00000316955:p.Ala274Ser					OR7A5_uc010xoa.1_Missense_Mutation_p.A274S	p.A274S	NM_017506	NP_059976	Q15622	OR7A5_HUMAN			1	1043	-			274			Helical; Name=7; (Potential).		B2R682|Q6IFP1|Q96R96	Missense_Mutation	SNP	ENST00000322301.3	37	c.820G>T	CCDS12318.1	.	.	.	.	.	.	.	.	.	.	c	15.40	2.822090	0.50739	.	.	ENSG00000188269	ENST00000322301	T	0.38240	1.15	3.12	2.03	0.26663	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.52533	0.1740	M	0.77486	2.375	0.09310	N	1	D	0.63046	0.992	D	0.65773	0.938	T	0.37267	-0.9713	9	0.66056	D	0.02	.	3.8265	0.08856	0.243:0.6264:0.0:0.1306	.	274	Q15622	OR7A5_HUMAN	S	274	ENSP00000316955:A274S	ENSP00000316955:A274S	A	-	1	0	OR7A5	14799234	0.000000	0.05858	0.026000	0.17262	0.478000	0.33099	-0.265000	0.08644	0.648000	0.30732	0.121000	0.15741	GCC		0.473	OR7A5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466518.1	NM_017506		29	28	1	0	8.53417e-09	0.002836	1.13004e-08	29	28				
UNC13A	23025	broad.mit.edu	37	19	17720884	17720884	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:17720884C>G	ENST00000519716.2	-	43	4675	c.4676G>C	c.(4675-4677)tGg>tCg	p.W1559S	UNC13A_ENST00000552293.1_Missense_Mutation_p.W1553S|UNC13A_ENST00000551649.1_Missense_Mutation_p.W1578S|UNC13A_ENST00000252773.7_Missense_Mutation_p.W1559S|UNC13A_ENST00000428389.2_Missense_Mutation_p.W1647S|UNC13A_ENST00000550896.1_Missense_Mutation_p.W1532S	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1559	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						AGAAGTCTGCCACTTGAGGTC	0.502																																							uc002nhd.2		NA																	0				ovary(3)	3						c.(4939-4941)TGG>TCG		unc-13 homolog A							107.0	116.0	113.0					19																	17720884		2160	4288	6448	SO:0001583	missense	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17720884C>G	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.4676G>C	19.37:g.17720884C>G	ENSP00000429562:p.Trp1559Ser						p.W1647S	NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN			42	4940	-			1559			C2 3.		E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	c.4940G>C	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	C	21.7	4.192808	0.78902	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26;-0.26	4.13	4.13	0.48395	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	U	0.000000	D	0.84483	0.5482	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88351	0.2981	10	0.87932	D	0	-8.1244	13.9527	0.64129	0.0:1.0:0.0:0.0	.	1559	Q9UPW8	UN13A_HUMAN	S	1559;1647;1559;1578;1553;1532	ENSP00000429562:W1559S;ENSP00000400409:W1647S;ENSP00000252773:W1559S;ENSP00000447236:W1578S;ENSP00000447572:W1553S;ENSP00000446831:W1532S	ENSP00000252773:W1559S	W	-	2	0	UNC13A	17581884	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.691000	0.84191	1.869000	0.54173	0.478000	0.44815	TGG		0.502	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		54	66	0	0	0	0.00361	0	54	66				
COMP	1311	broad.mit.edu	37	19	18896308	18896308	+	Splice_Site	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:18896308C>A	ENST00000222271.2	-	15	1761	c.1717G>T	c.(1717-1719)Ggt>Tgt	p.G573C	COMP_ENST00000542601.2_Splice_Site_p.G540C|COMP_ENST00000425807.1_Splice_Site_p.G520C	NM_000095.2	NP_000086.2	P49747	COMP_HUMAN	cartilage oligomeric matrix protein	573	Mediates cell survival and induction of the IAP family of survival proteins.|TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|limb development (GO:0060173)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|protease binding (GO:0002020)			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CGCTTCTCACCCACAGCCAGG	0.667																																							uc002nke.2		NA																	0					0						c.(1717-1719)GGT>TGT		cartilage oligomeric matrix protein precursor							72.0	75.0	74.0					19																	18896308		2203	4300	6503	SO:0001630	splice_region_variant	1311				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding	g.chr19:18896308C>A	L32137	CCDS12385.1	19p13.1	2008-02-05				ENSG00000105664			2227	protein-coding gene	gene with protein product	"""thrombospondin-5"""	600310	"""cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple)"""	PSACH, EDM1, EPD1		7713493, 8307576	Standard	NM_000095		Approved	MED, THBS5	uc002nke.3	P49747	OTTHUMG00000169318	ENST00000222271.2:c.1717+1G>T	19.37:g.18896308C>A						COMP_uc002nkd.2_Missense_Mutation_p.G540C|COMP_uc010xqj.1_Missense_Mutation_p.G520C	p.G573C	NM_000095	NP_000086	P49747	COMP_HUMAN			15	1753	-			573			Mediates cell survival and induction of the IAP family of survival proteins.|TSP C-terminal.		B4DKJ3|O14592|Q16388|Q16389|Q2NL86|Q8N4T2	Missense_Mutation	SNP	ENST00000222271.2	37	c.1717G>T	CCDS12385.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.576625	0.86645	.	.	ENSG00000105664	ENST00000542601;ENST00000222271;ENST00000425807;ENST00000454701	D;D;D	0.98060	-4.69;-4.69;-4.69	4.6	3.54	0.40534	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (2);	0.000000	0.85682	U	0.000000	D	0.98588	0.9528	M	0.87381	2.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98763	1.0725	9	.	.	.	-23.53	11.7247	0.51702	0.0:0.91:0.0:0.09	.	520;573	B4DKJ3;P49747	.;COMP_HUMAN	C	540;573;520;560	ENSP00000439156:G540C;ENSP00000222271:G573C;ENSP00000403792:G520C	.	G	-	1	0	COMP	18757308	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	7.345000	0.79337	0.911000	0.36747	0.484000	0.47621	GGT		0.667	COMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403457.1	NM_000095	Missense_Mutation	45	53	1	0	1.72845e-40	0.00361	3.16917e-40	45	53				
TM6SF2	53345	broad.mit.edu	37	19	19378887	19378887	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:19378887C>A	ENST00000389363.4	-	7	691	c.619G>T	c.(619-621)Gaa>Taa	p.E207*	TM6SF2_ENST00000586107.1_5'Flank|AC138430.4_ENST00000586064.2_RNA	NM_001001524.2	NP_001001524.2	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	207						integral component of membrane (GO:0016021)				breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			TTTCTTTGTTCCTCTTGCACC	0.522																																							uc002nmd.1		NA																	0					0						c.(619-621)GAA>TAA		transmembrane 6 superfamily member 2							42.0	49.0	47.0					19																	19378887		1963	4154	6117	SO:0001587	stop_gained	53345					integral to membrane		g.chr19:19378887C>A	AF255923	CCDS42528.1	19p13.3-p12	2008-02-05							11861	protein-coding gene	gene with protein product		606563				11124529	Standard	NM_001001524		Approved	Lpr4	uc002nmd.1	Q9BZW4		ENST00000389363.4:c.619G>T	19.37:g.19378887C>A	ENSP00000374014:p.Glu207*					HAPLN4_uc002nmc.2_5'UTR	p.E207*	NM_001001524	NP_001001524	Q9BZW4	TM6S2_HUMAN	Epithelial(12;0.0151)		7	669	-			207					Q0IJ64	Nonsense_Mutation	SNP	ENST00000389363.4	37	c.619G>T	CCDS42528.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.558255	0.45590	.	.	ENSG00000213996	ENST00000389363;ENST00000269990	.	.	.	4.68	3.61	0.41365	.	0.296062	0.22545	U	0.058677	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-0.283	11.7089	0.51614	0.1783:0.8217:0.0:0.0	.	.	.	.	X	207	.	ENSP00000269990:E207X	E	-	1	0	TM6SF2	19239887	0.998000	0.40836	0.376000	0.26042	0.104000	0.19210	6.043000	0.71004	0.923000	0.37045	0.563000	0.77884	GAA		0.522	TM6SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460122.2	NM_203510		17	7	1	0	1.99824e-07	0.00499	2.51812e-07	17	7				
SUGP1	57794	broad.mit.edu	37	19	19414190	19414190	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:19414190C>G	ENST00000247001.5	-	6	1077	c.730G>C	c.(730-732)Gaa>Caa	p.E244Q	SUGP1_ENST00000585763.1_5'UTR	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	244					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						TTCTGTGCTTCCTTTCTTATC	0.527																																							uc002nmh.2		NA																	0					0						c.(730-732)GAA>CAA		splicing factor 4							164.0	145.0	151.0					19																	19414190		2203	4300	6503	SO:0001583	missense	57794				nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding	g.chr19:19414190C>G	AF521128	CCDS12399.1	19p13	2013-01-28	2010-08-10	2010-08-10		ENSG00000105705		"""G patch domain containing"""	18643	protein-coding gene	gene with protein product		607992	"""splicing factor 4"""	SF4		12594045	Standard	NM_172231		Approved	F23858, DKFZp434E2216, RBP	uc002nmh.3	Q8IWZ8		ENST00000247001.5:c.730G>C	19.37:g.19414190C>G	ENSP00000247001:p.Glu244Gln					SF4_uc002nmf.2_5'Flank|SF4_uc002nmg.2_5'UTR|SF4_uc002nmi.2_Missense_Mutation_p.E34Q|SF4_uc002nmj.2_Missense_Mutation_p.E34Q|SF4_uc010xqr.1_RNA|SF4_uc010xqs.1_RNA	p.E244Q	NM_172231	NP_757386	Q8IWZ8	SUGP1_HUMAN			6	732	-			244					O60378|Q6P3X9|Q8TCQ4|Q8WWT4|Q8WWT5|Q9NTG3	Missense_Mutation	SNP	ENST00000247001.5	37	c.730G>C	CCDS12399.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.456057	0.43634	.	.	ENSG00000105705	ENST00000247001	T	0.24151	1.87	5.02	3.98	0.46160	.	0.264520	0.39615	N	0.001320	T	0.21347	0.0514	L	0.54323	1.7	0.80722	D	1	P	0.36048	0.534	B	0.34722	0.188	T	0.02196	-1.1197	10	0.17369	T	0.5	.	9.8206	0.40880	0.0:0.9035:0.0:0.0965	.	244	Q8IWZ8	SUGP1_HUMAN	Q	244	ENSP00000247001:E244Q	ENSP00000247001:E244Q	E	-	1	0	SUGP1	19275190	1.000000	0.71417	0.674000	0.29902	0.996000	0.88848	2.016000	0.40971	2.346000	0.79739	0.655000	0.94253	GAA		0.527	SUGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460128.4	NM_021164		28	48	0	0	0	0.002836	0	28	48				
ZNF253	56242	broad.mit.edu	37	19	19989306	19989306	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:19989306G>T	ENST00000589717.1	+	2	112	c.20G>T	c.(19-21)aGa>aTa	p.R7I	ZNF253_ENST00000355650.4_Intron	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	7	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTGCAATTTAGAGATGTGGCC	0.393																																							uc002noj.2		NA																	0					0						c.(19-21)AGA>ATA		zinc finger protein 253							106.0	133.0	123.0					19																	19989306		1501	2704	4205	SO:0001583	missense	56242				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:19989306G>T	AF038951	CCDS42532.1	19p12	2014-02-12	2003-12-17		ENSG00000256771	ENSG00000256771		"""Zinc fingers, C2H2-type"", ""-"""	13497	protein-coding gene	gene with protein product		606954	"""zinc finger protein 411"""	ZNF411		10585455	Standard	NM_021047		Approved	BMZF-1, FLJ90391	uc002noj.3	O75346	OTTHUMG00000182369	ENST00000589717.1:c.20G>T	19.37:g.19989306G>T	ENSP00000468720:p.Arg7Ile					ZNF253_uc002nok.2_Intron|ZNF253_uc002nol.2_Intron	p.R7I	NM_021047	NP_066385	O75346	ZN253_HUMAN			2	112	+			7			KRAB.		A4FVA7|Q0P6G3|Q6P0L2|Q8NCA3|Q8NCF9	Missense_Mutation	SNP	ENST00000589717.1	37	c.20G>T	CCDS42532.1	.	.	.	.	.	.	.	.	.	.	g	9.614	1.131973	0.21041	.	.	ENSG00000256771	ENST00000355650	.	.	.	0.926	-1.85	0.07784	Krueppel-associated box (4);	.	.	.	.	T	0.60508	0.2274	H	0.96365	3.81	0.09310	N	1	P	0.46327	0.876	P	0.47864	0.559	T	0.56269	-0.8007	7	.	.	.	.	2.1584	0.03819	0.3134:0.3451:0.3415:0.0	.	7	O75346	ZN253_HUMAN	I	7	.	.	R	+	2	0	ZNF253	19850306	0.089000	0.21612	0.009000	0.14445	0.009000	0.06853	-0.746000	0.04829	-0.808000	0.04387	-0.802000	0.03209	AGA		0.393	ZNF253-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460802.1	NM_021047		39	57	1	0	5.82388e-19	0.00361	9.55863e-19	39	57				
ZNF98	148198	broad.mit.edu	37	19	22574545	22574545	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:22574545C>T	ENST00000357774.5	-	4	1613	c.1492G>A	c.(1492-1494)Gct>Act	p.A498T		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	498					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				TGGTTAAAAGCTTTGCCACAT	0.403																																							uc002nqt.2		NA																	0				ovary(1)|skin(1)	2						c.(1492-1494)GCT>ACT		zinc finger protein 98							74.0	66.0	69.0					19																	22574545		2185	4284	6469	SO:0001583	missense	148198				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22574545C>T		CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"""Zinc fingers, C2H2-type"", ""-"""	13174	protein-coding gene	gene with protein product	"""zinc finger protein 739"""	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.1492G>A	19.37:g.22574545C>T	ENSP00000350418:p.Ala498Thr						p.A498T	NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN			4	1614	-		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)	498			C2H2-type 12.			Missense_Mutation	SNP	ENST00000357774.5	37	c.1492G>A	CCDS46031.1	.	.	.	.	.	.	.	.	.	.	.	10.08	1.251033	0.22880	.	.	ENSG00000197360	ENST00000357774	T	0.36878	1.23	1.26	1.26	0.21427	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18045	0.0433	N	0.02111	-0.68	0.09310	N	1	B	0.31318	0.319	B	0.41691	0.364	T	0.30475	-0.9977	9	0.46703	T	0.11	.	5.4068	0.16326	0.5332:0.4668:0.0:0.0	.	498	A6NK75	ZNF98_HUMAN	T	498	ENSP00000350418:A498T	ENSP00000350418:A498T	A	-	1	0	ZNF98	22366385	0.000000	0.05858	0.016000	0.15963	0.008000	0.06430	-0.615000	0.05597	0.665000	0.31066	0.289000	0.19496	GCT		0.403	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626		24	126	0	0	0	0.003271	0	24	126				
ZNF492	57615	broad.mit.edu	37	19	22847456	22847456	+	Nonsense_Mutation	SNP	A	A	T	rs578179063		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:22847456A>T	ENST00000456783.2	+	4	1229	c.985A>T	c.(985-987)Aga>Tga	p.R329*	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	329					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				TACACATAAGAGAATTCATTC	0.378																																							uc002nqw.3		NA																	0					0						c.(985-987)AGA>TGA		zinc finger protein 492							23.0	26.0	25.0					19																	22847456		2063	4238	6301	SO:0001587	stop_gained	57615				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22847456A>T	AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"""Zinc fingers, C2H2-type"""	23707	protein-coding gene	gene with protein product			"""zinc finger protein 115 (Y20)"""	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.985A>T	19.37:g.22847456A>T	ENSP00000413660:p.Arg329*						p.R329*	NM_020855	NP_065906	Q9P255	ZN492_HUMAN			4	1229	+		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)	329			C2H2-type 7.		Q08EI7|Q08EI8	Nonsense_Mutation	SNP	ENST00000456783.2	37	c.985A>T	CCDS46032.1	.	.	.	.	.	.	.	.	.	.	.	26.0	4.691105	0.88735	.	.	ENSG00000229676	ENST00000456783	.	.	.	1.12	1.12	0.20585	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.8144	0.18484	1.0:0.0:0.0:0.0	.	.	.	.	X	329	.	ENSP00000413660:R329X	R	+	1	2	ZNF492	22639296	0.000000	0.05858	0.019000	0.16419	0.019000	0.09904	-0.673000	0.05239	0.231000	0.21079	0.228000	0.17796	AGA		0.378	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	NM_020855		8	7	0	0	0	0.006214	0	8	7				
URI1	8725	broad.mit.edu	37	19	30505918	30505918	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:30505918A>G	ENST00000542441.2	+	11	1847	c.1550A>G	c.(1549-1551)gAa>gGa	p.E517G	URI1_ENST00000392271.1_Missense_Mutation_p.E441G|URI1_ENST00000312051.6_Missense_Mutation_p.E477G|URI1_ENST00000360605.4_Intron			O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	517					cellular response to growth factor stimulus (GO:0071363)|cellular response to steroid hormone stimulus (GO:0071383)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of phosphatase activity (GO:0010923)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to virus (GO:0009615)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	chromatin binding (GO:0003682)|protein phosphatase inhibitor activity (GO:0004864)|RNA polymerase II transcription corepressor activity (GO:0001106)										GAAGCATCTGAAGAAACTGGA	0.433																																						Melanoma(75;661 1306 1472 28422 37948)	uc002nsr.2		NA																	0				ovary(1)|kidney(1)	2						c.(1549-1551)GAA>GGA		RPB5-mediating protein isoform a							107.0	107.0	107.0					19																	30505918		2203	4300	6503	SO:0001583	missense	8725				protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding	g.chr19:30505918A>G	AF091095	CCDS12420.1, CCDS58658.1	19q12	2012-04-17	2011-11-21	2011-11-21	ENSG00000105176	ENSG00000105176		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	13236	protein-coding gene	gene with protein product	"""unconventional prefoldin RPB5 interactor"", ""RPB5-mediating protein"", ""protein phosphatase 1, regulatory subunit 19"""	603494	"""chromosome 19 open reading frame 2"""	C19orf2		9878255, 9819440	Standard	NM_003796		Approved	RMP, NNX3, FLJ10575, URI, PPP1R19	uc002nsr.3	O94763		ENST00000542441.2:c.1550A>G	19.37:g.30505918A>G	ENSP00000442436:p.Glu517Gly					C19orf2_uc002nsq.2_Intron|C19orf2_uc002nss.2_Missense_Mutation_p.E477G|C19orf2_uc002nst.2_Missense_Mutation_p.E441G	p.E517G	NM_003796	NP_003787	O94763	RMP_HUMAN	STAD - Stomach adenocarcinoma(5;5.36e-06)|Lung(7;0.0144)|LUAD - Lung adenocarcinoma(5;0.115)	STAD - Stomach adenocarcinoma(1328;0.18)	11	1580	+	Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)	Hepatocellular(1079;0.137)|Renal(1328;0.228)	517					A8K805|H7BY42|Q8TC23|Q9UNU3	Missense_Mutation	SNP	ENST00000542441.2	37	c.1550A>G	CCDS12420.1	.	.	.	.	.	.	.	.	.	.	A	13.87	2.364634	0.41902	.	.	ENSG00000105176	ENST00000392271;ENST00000542441;ENST00000312051	T	0.52983	0.64	6.07	5.06	0.68205	.	0.045903	0.85682	D	0.000000	T	0.63165	0.2488	M	0.61703	1.905	0.47698	D	0.999496	D;D	0.69078	0.997;0.995	D;P	0.65684	0.937;0.866	T	0.65496	-0.6154	10	0.72032	D	0.01	-30.3799	12.233	0.54499	0.9338:0.0:0.0662:0.0	.	477;517	F8W9T0;O94763	.;RMP_HUMAN	G	441;517;477	ENSP00000442436:E517G	ENSP00000312530:E477G	E	+	2	0	C19orf2	35197758	1.000000	0.71417	0.432000	0.26747	0.271000	0.26615	5.393000	0.66279	1.114000	0.41781	0.528000	0.53228	GAA		0.433	URI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439756.1	NM_134447		24	49	0	0	0	0.003954	0	24	49				
ZNF536	9745	broad.mit.edu	37	19	30935373	30935373	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:30935373T>A	ENST00000355537.3	+	2	1051	c.904T>A	c.(904-906)Tgc>Agc	p.C302S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	302					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCCCTACAAGTGCACGTTGTG	0.652																																							uc002nsu.1		NA																	0				ovary(7)|large_intestine(2)|skin(2)	11						c.(904-906)TGC>AGC		zinc finger protein 536							65.0	72.0	70.0					19																	30935373		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935373T>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.904T>A	19.37:g.30935373T>A	ENSP00000347730:p.Cys302Ser					ZNF536_uc010edd.1_Missense_Mutation_p.C302S	p.C302S	NM_014717	NP_055532	O15090	ZN536_HUMAN			2	1042	+	Esophageal squamous(110;0.0834)		302			C2H2-type 4.		A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.904T>A	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	T	13.30	2.194611	0.38806	.	.	ENSG00000198597	ENST00000355537	T	0.59638	0.25	5.7	5.7	0.88788	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.81278	0.4789	M	0.92026	3.265	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.85767	0.1353	10	0.87932	D	0	-29.0903	15.9492	0.79820	0.0:0.0:0.0:1.0	.	302;302	A7E228;O15090	.;ZN536_HUMAN	S	302	ENSP00000347730:C302S	ENSP00000347730:C302S	C	+	1	0	ZNF536	35627213	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	8.012000	0.88631	2.182000	0.69389	0.402000	0.26972	TGC		0.652	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		22	86	0	0	0	0.003954	0	22	86				
TSHZ3	57616	broad.mit.edu	37	19	31768675	31768675	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:31768675C>T	ENST00000240587.4	-	2	2351	c.2024G>A	c.(2023-2025)cGg>cAg	p.R675Q		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	675					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GCACCCATCCCGCGGGGGGCT	0.652																																							uc002nsy.3		NA																	0				ovary(4)|skin(2)|pancreas(1)|lung(1)	8						c.(2023-2025)CGG>CAG		zinc finger protein 537							26.0	29.0	28.0					19																	31768675		2202	4297	6499	SO:0001583	missense	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31768675C>T	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.2024G>A	19.37:g.31768675C>T	ENSP00000240587:p.Arg675Gln						p.R675Q	NM_020856	NP_065907	Q63HK5	TSH3_HUMAN			2	2089	-	Esophageal squamous(110;0.226)		675					Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.2024G>A	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	C	3.918	-0.018634	0.07681	.	.	ENSG00000121297	ENST00000240587	T	0.38560	1.13	5.5	4.47	0.54385	.	0.353536	0.29053	N	0.013294	T	0.18467	0.0443	N	0.14661	0.345	0.35857	D	0.827193	P	0.39782	0.688	B	0.23018	0.043	T	0.22906	-1.0203	10	0.18710	T	0.47	-14.3004	10.2654	0.43452	0.0:0.8501:0.0:0.1499	.	675	Q63HK5	TSH3_HUMAN	Q	675	ENSP00000240587:R675Q	ENSP00000240587:R675Q	R	-	2	0	TSHZ3	36460515	0.812000	0.29077	0.027000	0.17364	0.166000	0.22503	1.914000	0.39966	1.309000	0.44985	0.650000	0.86243	CGG		0.652	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		25	34	0	0	0	0.00632	0	25	34				
ZNF30	90075	broad.mit.edu	37	19	35434349	35434349	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:35434349G>T	ENST00000601142.1	+	5	716	c.479G>T	c.(478-480)gGa>gTa	p.G160V	ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000426813.2_Missense_Mutation_p.G79V|ZNF30_ENST00000303586.7_Missense_Mutation_p.G161V|ZNF30_ENST00000439785.1_Missense_Mutation_p.G161V			P17039	ZNF30_HUMAN	zinc finger protein 30	160					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		TTTAGTAATGGACATCAACTC	0.383																																							uc010edp.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(478-480)GGA>GTA		zinc finger protein 30 isoform b							79.0	77.0	77.0					19																	35434349		1965	4168	6133	SO:0001583	missense	90075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35434349G>T	X52359	CCDS46044.1, CCDS46045.1	19q13.13	2013-01-08	2006-05-10			ENSG00000168661		"""Zinc fingers, C2H2-type"", ""-"""	13090	protein-coding gene	gene with protein product			"""zinc finger protein 30 (KOX 28)"""				Standard	NM_001099437		Approved	KOX28, DKFZp686N19164, FLJ20562	uc010edq.1	P17039		ENST00000601142.1:c.479G>T	19.37:g.35434349G>T	ENSP00000469954:p.Gly160Val					ZNF30_uc002nxf.2_Missense_Mutation_p.G79V|ZNF30_uc010edq.1_Missense_Mutation_p.G161V|ZNF30_uc010edr.1_Missense_Mutation_p.G161V	p.G160V	NM_194325	NP_919306	P17039	ZNF30_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)	5	857	+	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		160			C2H2-type 2.		A5PLP1|A8K320|B4DIC0|Q6N068	Missense_Mutation	SNP	ENST00000601142.1	37	c.479G>T	CCDS46045.1	.	.	.	.	.	.	.	.	.	.	G	0.936	-0.710992	0.03230	.	.	ENSG00000168661	ENST00000439785;ENST00000303586;ENST00000426813	T;T	0.14266	2.52;2.52	2.17	0.266	0.15617	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04634	0.0126	N	0.17248	0.465	0.09310	N	1	B;P	0.40032	0.142;0.699	B;B	0.23716	0.04;0.048	T	0.37407	-0.9707	9	0.15499	T	0.54	.	4.0692	0.09874	0.3666:0.0:0.6334:0.0	.	161;160	P17039-2;P17039	.;ZNF30_HUMAN	V	161;160;79	ENSP00000403441:G161V;ENSP00000416457:G79V	ENSP00000303889:G160V	G	+	2	0	ZNF30	40126189	0.000000	0.05858	0.000000	0.03702	0.091000	0.18340	-0.561000	0.05957	-0.049000	0.13379	0.508000	0.49915	GGA		0.383	ZNF30-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464432.1	NM_194325		20	20	1	0	8.10497e-08	0.010504	1.03987e-07	20	20				
CD22	933	broad.mit.edu	37	19	35832310	35832310	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:35832310G>T	ENST00000085219.5	+	8	1638	c.1572G>T	c.(1570-1572)tcG>tcT	p.S524S	CD22_ENST00000419549.2_Silent_p.S352S|CD22_ENST00000536635.2_Silent_p.S436S|CD22_ENST00000594250.1_Silent_p.S347S|CD22_ENST00000544992.2_Silent_p.S524S|CD22_ENST00000270311.6_Silent_p.S404S|CD22_ENST00000341773.6_Silent_p.S347S	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	524	Ig-like C2-type 5.				cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CTGGAAACTCGGTCAGCCTCC	0.552																																					Ovarian(42;1009 1133 23674 26041)	Ovarian(42;1009 1133 23674 26041)	uc010edt.2		NA																	0				ovary(5)|lung(3)|breast(1)	9						c.(1570-1572)TCG>TCT		CD22 molecule precursor	OspA lipoprotein(DB00045)						45.0	45.0	45.0					19																	35832310		2203	4300	6503	SO:0001819	synonymous_variant	933				cell adhesion		protein binding|sugar binding	g.chr19:35832310G>T	X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.1572G>T	19.37:g.35832310G>T						CD22_uc010xst.1_Silent_p.S352S|CD22_uc010edu.2_Silent_p.S436S|CD22_uc010edv.2_Silent_p.S524S|CD22_uc002nzb.3_Silent_p.S347S|CD22_uc010edx.2_RNA	p.S524S	NM_001771	NP_001762	P20273	CD22_HUMAN	Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		8	1649	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		524			Extracellular (Potential).|Ig-like C2-type 5.		F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Silent	SNP	ENST00000085219.5	37	c.1572G>T	CCDS12457.1																																																																																				0.552	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771		26	33	1	0	7.01153e-11	0.007291	9.89198e-11	26	33				
IGFLR1	79713	broad.mit.edu	37	19	36231335	36231335	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:36231335G>A	ENST00000592537.1	-	3	388	c.288C>T	c.(286-288)gcC>gcT	p.A96A	IGFLR1_ENST00000587101.1_5'UTR|IGFLR1_ENST00000344990.3_Intron|AD000671.6_ENST00000589807.1_3'UTR|IGFLR1_ENST00000588992.1_Intron|IGFLR1_ENST00000592889.1_Intron|KMT2B_ENST00000607650.1_RNA|IGFLR1_ENST00000246532.1_Silent_p.A96A			Q9H665	IGFR1_HUMAN	IGF-like family receptor 1	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(3)|large_intestine(1)|lung(8)|prostate(1)	15						TAGGGGTCACGGCTCCGCCGC	0.697																																							uc002obc.2		NA																	0					0						c.(286-288)GCC>GCT		transmembrane protein 149 precursor							13.0	15.0	14.0					19																	36231335		2145	4219	6364	SO:0001819	synonymous_variant	79713					integral to membrane|plasma membrane	protein binding|receptor activity	g.chr19:36231335G>A	AK026226	CCDS12472.1	19q13.12	2012-10-02	2011-04-04	2011-04-04	ENSG00000126246	ENSG00000126246			23620	protein-coding gene	gene with protein product		614143	"""U2(RNU2) small nuclear RNA auxiliary factor 1-like 4"", ""transmembrane protein 149"""	U2AF1L4, TMEM149		21454693	Standard	NM_024660		Approved	FLJ22573	uc002obd.4	Q9H665		ENST00000592537.1:c.288C>T	19.37:g.36231335G>A						TMEM149_uc002obb.2_Intron|TMEM149_uc002obd.3_Silent_p.A96A|TMEM149_uc010xsy.1_RNA|TMEM149_uc010eej.2_Silent_p.A176A	p.A96A	NM_024660	NP_078936	Q9H665	IGFR1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		3	389	-	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		96			Extracellular (Potential).		Q8N5X0	Silent	SNP	ENST00000592537.1	37	c.288C>T	CCDS12472.1																																																																																				0.697	IGFLR1-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459077.1	NM_024660		6	25	0	0	0	0.001168	0	6	25				
ZNF570	148268	broad.mit.edu	37	19	37975292	37975292	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:37975292C>T	ENST00000330173.1	+	5	1297	c.768C>T	c.(766-768)agC>agT	p.S256S	ZNF570_ENST00000586475.1_Silent_p.S312S|ZNF570_ENST00000388801.3_Silent_p.S53S	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	256					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAGCCTTCAGCCAGAGATCAA	0.398																																							uc002ogk.1		NA																	0				ovary(1)	1						c.(766-768)AGC>AGT		zinc finger protein 570							64.0	71.0	69.0					19																	37975292		2203	4299	6502	SO:0001819	synonymous_variant	148268				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37975292C>T	AK055353	CCDS12504.1, CCDS74355.1	19q13.12	2013-09-20			ENSG00000171827	ENSG00000171827		"""Zinc fingers, C2H2-type"", ""-"""	26416	protein-coding gene	gene with protein product							Standard	XM_005258567		Approved	FLJ30791	uc002ogk.1	Q96NI8	OTTHUMG00000048176	ENST00000330173.1:c.768C>T	19.37:g.37975292C>T						ZNF570_uc010efl.1_Silent_p.S312S|ZNF570_uc010xtr.1_Silent_p.S53S	p.S256S	NM_144694	NP_653295	Q96NI8	ZN570_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1297	+			256			C2H2-type 2.		A1L472|B4DMP1	Silent	SNP	ENST00000330173.1	37	c.768C>T	CCDS12504.1																																																																																				0.398	ZNF570-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109600.1	NM_144694		30	101	0	0	0	0.002096	0	30	101				
SIPA1L3	23094	broad.mit.edu	37	19	38572907	38572907	+	Silent	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:38572907G>C	ENST00000222345.6	+	3	1211	c.702G>C	c.(700-702)ggG>ggC	p.G234G		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	234					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ACGCCCGAGGGTGCCAGGCCC	0.697																																							uc002ohk.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(700-702)GGG>GGC		signal-induced proliferation-associated 1 like							30.0	30.0	30.0					19																	38572907		2093	4126	6219	SO:0001819	synonymous_variant	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38572907G>C	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.702G>C	19.37:g.38572907G>C							p.G234G	NM_015073	NP_055888	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		3	1211	+			234					Q2TV87	Silent	SNP	ENST00000222345.6	37	c.702G>C	CCDS33007.1																																																																																				0.697	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		48	49	0	0	0	0.00361	0	48	49				
RYR1	6261	broad.mit.edu	37	19	38969098	38969098	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:38969098T>A	ENST00000359596.3	+	31	4478	c.4478T>A	c.(4477-4479)aTg>aAg	p.M1493K	RYR1_ENST00000355481.4_Missense_Mutation_p.M1493K|RYR1_ENST00000360985.3_Missense_Mutation_p.M1493K			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1493	6 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	AACTGCTACATGGTGTGGGGC	0.602																																							uc002oit.2		NA																	0				ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(4477-4479)ATG>AAG		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						68.0	59.0	62.0					19																	38969098		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38969098T>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.4478T>A	19.37:g.38969098T>A	ENSP00000352608:p.Met1493Lys					RYR1_uc002oiu.2_Missense_Mutation_p.M1493K	p.M1493K	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		31	4608	+	all_cancers(60;7.91e-06)		1493			Cytoplasmic.|B30.2/SPRY 3.|6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.4478T>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	T	12.28	1.891870	0.33442	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.69040	-0.37;-0.37;-0.37	4.4	4.4	0.53042	SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	U	0.000000	D	0.82416	0.5032	M	0.84433	2.695	0.54753	D	0.999988	D;D	0.76494	0.991;0.999	P;D	0.79108	0.895;0.992	D	0.85776	0.1358	10	0.87932	D	0	.	13.7166	0.62700	0.0:0.0:0.0:1.0	.	1493;1493	P21817-2;P21817	.;RYR1_HUMAN	K	1493	ENSP00000352608:M1493K;ENSP00000347667:M1493K;ENSP00000354254:M1493K	ENSP00000347667:M1493K	M	+	2	0	RYR1	43660938	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	7.780000	0.85658	1.978000	0.57642	0.402000	0.26972	ATG		0.602	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			15	46	0	0	0	0.00499	0	15	46				
MAP4K1	11184	broad.mit.edu	37	19	39104562	39104562	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:39104562G>T	ENST00000591517.1	-	8	519	c.491C>A	c.(490-492)gCt>gAt	p.A164D	MAP4K1_ENST00000589002.1_5'UTR|MAP4K1_ENST00000423454.2_5'UTR|MAP4K1_ENST00000589130.1_Missense_Mutation_p.A160D|MAP4K1_ENST00000396857.2_Missense_Mutation_p.A164D|MAP4K1_ENST00000586296.1_Missense_Mutation_p.A164D	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	164	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGCCAGTGTAGCCCCAATCTG	0.627																																							uc002oix.1		NA																	0				skin(4)|lung(3)|ovary(1)	8						c.(490-492)GCT>GAT		mitogen-activated protein kinase kinase kinase							37.0	45.0	42.0					19																	39104562		2017	4180	6197	SO:0001583	missense	11184				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity	g.chr19:39104562G>T	U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6863	protein-coding gene	gene with protein product	"""hematopoietic progenitor kinase 1"""	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.491C>A	19.37:g.39104562G>T	ENSP00000465039:p.Ala164Asp					MAP4K1_uc002oiy.1_Missense_Mutation_p.A164D|MAP4K1_uc010xug.1_5'UTR	p.A164D	NM_007181	NP_009112	Q92918	M4K1_HUMAN	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)		8	599	-	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		164			Protein kinase.			Missense_Mutation	SNP	ENST00000591517.1	37	c.491C>A	CCDS59385.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.740915	0.69304	.	.	ENSG00000104814	ENST00000396857;ENST00000221409	T	0.65732	-0.17	4.6	4.6	0.57074	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.55081	0.1898	N	0.01284	-0.91	0.80722	D	1	D;P	0.89917	1.0;0.954	D;P	0.87578	0.998;0.857	T	0.73613	-0.3927	10	0.59425	D	0.04	.	16.2367	0.82380	0.0:0.0:1.0:0.0	.	164;164	Q92918-2;Q92918	.;M4K1_HUMAN	D	164	ENSP00000380066:A164D	ENSP00000221409:A164D	A	-	2	0	MAP4K1	43796402	1.000000	0.71417	0.845000	0.33349	0.300000	0.27592	9.211000	0.95120	2.098000	0.63641	0.558000	0.71614	GCT		0.627	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1	NM_001042600		3	20	1	0	0.004672	0.004672	0.00493414	3	20				
SPTBN4	57731	broad.mit.edu	37	19	41009848	41009848	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:41009848G>A	ENST00000352632.3	+	12	1560	c.1474G>A	c.(1474-1476)Gcc>Acc	p.A492T	SPTBN4_ENST00000338932.3_Missense_Mutation_p.A492T|SPTBN4_ENST00000595535.1_Missense_Mutation_p.A492T|SPTBN4_ENST00000344104.3_Missense_Mutation_p.A492T|SPTBN4_ENST00000598249.1_Missense_Mutation_p.A492T			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	492					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGCGGAGCTGGCCCAGGCATT	0.652																																							uc002ony.2		NA																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(1474-1476)GCC>ACC		spectrin, beta, non-erythrocytic 4 isoform							36.0	38.0	37.0					19																	41009848		2203	4300	6503	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41009848G>A	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.1474G>A	19.37:g.41009848G>A	ENSP00000263373:p.Ala492Thr					SPTBN4_uc002onx.2_Missense_Mutation_p.A492T|SPTBN4_uc002onz.2_Missense_Mutation_p.A492T	p.A492T	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		12	1560	+			492			Spectrin 3.		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.1474G>A	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	g	22.0	4.229874	0.79688	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.56776	0.44;0.44;0.44	4.2	4.2	0.49525	.	0.092947	0.40728	U	0.001040	T	0.69287	0.3094	M	0.89287	3.02	0.80722	D	1	P;P	0.46912	0.789;0.886	B;P	0.51079	0.344;0.658	T	0.78021	-0.2367	10	0.72032	D	0.01	.	15.4391	0.75168	0.0:0.0:1.0:0.0	.	492;492	Q9H254;Q71S06	SPTN4_HUMAN;.	T	492	ENSP00000263373:A492T;ENSP00000340345:A492T;ENSP00000340741:A492T	ENSP00000340345:A492T	A	+	1	0	SPTBN4	45701688	1.000000	0.71417	1.000000	0.80357	0.607000	0.37147	6.311000	0.72835	2.180000	0.69256	0.486000	0.48141	GCC		0.652	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			19	37	0	0	0	0.001882	0	19	37				
CEACAM6	4680	broad.mit.edu	37	19	42270096	42270096	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:42270096G>T	ENST00000199764.6	+	5	1182	c.964G>T	c.(964-966)Gct>Tct	p.A322S	AC011513.4_ENST00000601409.1_RNA	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	322					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		ACAAGGAAGTGCTCCTGTCCT	0.507																																							uc002orm.2		NA																	0				ovary(1)	1						c.(964-966)GCT>TCT		carcinoembryonic antigen-related cell adhesion							150.0	128.0	135.0					19																	42270096		2203	4300	6503	SO:0001583	missense	4680				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane		g.chr19:42270096G>T	M29541	CCDS12585.1	19q13.1-q13.2	2013-01-29			ENSG00000086548	ENSG00000086548		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1818	protein-coding gene	gene with protein product		163980		NCA			Standard	NM_002483		Approved	CD66c	uc002orm.2	P40199	OTTHUMG00000151064	ENST00000199764.6:c.964G>T	19.37:g.42270096G>T	ENSP00000199764:p.Ala322Ser						p.A322S	NM_002483	NP_002474	P40199	CEAM6_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)	5	1113	+			322					Q13774|Q14920|Q53XP7	Missense_Mutation	SNP	ENST00000199764.6	37	c.964G>T	CCDS12585.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.984403	0.00046	.	.	ENSG00000086548	ENST00000199764	T	0.20463	2.07	0.485	-0.97	0.10306	.	.	.	.	.	T	0.03477	0.0100	N	0.00583	-1.355	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24012	-1.0172	8	0.02654	T	1	.	.	.	.	.	322	P40199	CEAM6_HUMAN	S	322	ENSP00000199764:A322S	ENSP00000199764:A322S	A	+	1	0	CEACAM6	46961936	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.621000	0.02044	-1.456000	0.01921	-0.680000	0.03767	GCT		0.507	CEACAM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321147.1			22	98	1	0	2.00529e-23	0.00333	3.43929e-23	22	98				
LYPD4	147719	broad.mit.edu	37	19	42341304	42341304	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:42341304C>T	ENST00000330743.3	-	5	1865	c.654G>A	c.(652-654)gaG>gaA	p.E218E	LYPD4_ENST00000601246.1_Silent_p.E183E|AC020956.3_ENST00000593354.1_lincRNA|LYPD4_ENST00000343055.4_Silent_p.E183E	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	218	UPAR/Ly6.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.E218E(1)		breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						TCTGAGACTTCTCTAAGATGT	0.498																																							uc002orp.1		NA																	1	Substitution - coding silent(1)		skin(1)	ovary(1)	1						c.(652-654)GAG>GAA		LY6/PLAUR domain containing 4 precursor							165.0	151.0	156.0					19																	42341304		2203	4300	6503	SO:0001819	synonymous_variant	147719					anchored to membrane|plasma membrane		g.chr19:42341304C>T	AY358726	CCDS12587.1	19q13.2	2008-02-05				ENSG00000273111			28659	protein-coding gene	gene with protein product						12975309	Standard	XM_005278383		Approved	MGC42718	uc002orp.1	Q6UWN0		ENST00000330743.3:c.654G>A	19.37:g.42341304C>T						LYPD4_uc002orq.1_Silent_p.E183E	p.E218E	NM_173506	NP_775777	Q6UWN0	LYPD4_HUMAN			5	1638	-			218			UPAR/Ly6.		Q8IYW0	Silent	SNP	ENST00000330743.3	37	c.654G>A	CCDS12587.1																																																																																				0.498	LYPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463039.1	NM_173506		29	110	0	0	0	0.009535	0	29	110				
PSG11	5680	broad.mit.edu	37	19	43519460	43519460	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:43519460C>T	ENST00000401740.1	-	4	875	c.772G>A	c.(772-774)Gac>Aac	p.D258N	PSG11_ENST00000403486.1_Missense_Mutation_p.D136N|PSG11_ENST00000306322.7_Missense_Mutation_p.D136N|PSG11_ENST00000320078.7_Missense_Mutation_p.D258N|PSG11_ENST00000595312.1_5'Flank			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	256	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.D258Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				CAGGACAAGTCGAGGTTCTCT	0.448																																							uc002ovm.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(772-774)GAC>AAC		pregnancy specific beta-1-glycoprotein 11							133.0	143.0	139.0					19																	43519460		2200	4298	6498	SO:0001583	missense	5680				female pregnancy	extracellular region		g.chr19:43519460C>T	U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9516	protein-coding gene	gene with protein product	"""pregnancy specific beta-1-glycoprotein 13"""	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.772G>A	19.37:g.43519460C>T	ENSP00000384995:p.Asp258Asn					PSG11_uc002ouw.2_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG11_uc002ovn.1_Missense_Mutation_p.D264N|PSG11_uc002ovo.1_Missense_Mutation_p.D136N|PSG11_uc002ovp.1_Missense_Mutation_p.D136N	p.D258N	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN			4	879	-		Prostate(69;0.00682)	258			Ig-like C2-type 2.		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000401740.1	37	c.772G>A	CCDS12614.2	.	.	.	.	.	.	.	.	.	.	c	0	-2.632536	0.00115	.	.	ENSG00000243130	ENST00000320078;ENST00000403486;ENST00000306322;ENST00000401740	T;T;T;T	0.10763	2.84;2.84;2.84;2.84	1.13	-2.25	0.06888	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.03136	0.0092	N	0.04335	-0.225	0.09310	N	1	B;B	0.23249	0.041;0.082	B;B	0.26202	0.006;0.067	T	0.36432	-0.9748	9	0.02654	T	1	.	2.2582	0.04060	0.0:0.247:0.3096:0.4434	.	136;258	Q9UQ72-2;Q9UQ72	.;PSG11_HUMAN	N	258;136;136;258	ENSP00000319140:D258N;ENSP00000385427:D136N;ENSP00000304913:D136N;ENSP00000384995:D258N	ENSP00000304913:D136N	D	-	1	0	PSG11	48211300	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	-0.587000	0.05780	-1.694000	0.01425	-1.271000	0.01417	GAC		0.448	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323079.1	NM_002785		40	138	0	0	0	0.007835	0	40	138				
PSG11	5680	broad.mit.edu	37	19	43519523	43519523	+	Splice_Site	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:43519523C>T	ENST00000401740.1	-	4	813		c.e4-1		PSG11_ENST00000403486.1_Splice_Site|PSG11_ENST00000306322.7_Splice_Site|PSG11_ENST00000320078.7_Splice_Site|PSG11_ENST00000595312.1_5'Flank			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11						female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				TCTGGACCATCTGGAGGAAAG	0.502																																							uc002ovm.1		NA																	0					0						c.e4-1		pregnancy specific beta-1-glycoprotein 11							98.0	109.0	105.0					19																	43519523		2199	4297	6496	SO:0001630	splice_region_variant	5680				female pregnancy	extracellular region		g.chr19:43519523C>T	U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9516	protein-coding gene	gene with protein product	"""pregnancy specific beta-1-glycoprotein 13"""	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.710-1G>A	19.37:g.43519523C>T						PSG11_uc002ouw.2_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG11_uc002ovn.1_Splice_Site_p.H243_splice|PSG11_uc002ovo.1_Splice_Site_p.H115_splice|PSG11_uc002ovp.1_Splice_Site_p.H115_splice	p.H237_splice	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN			4	817	-		Prostate(69;0.00682)						B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Splice_Site	SNP	ENST00000401740.1	37	c.710_splice	CCDS12614.2	.	.	.	.	.	.	.	.	.	.	C	4.402	0.074288	0.08485	.	.	ENSG00000243130	ENST00000320078;ENST00000403486;ENST00000306322;ENST00000401740	.	.	.	0.961	0.961	0.19638	.	.	.	.	.	.	.	.	.	.	.	0.32766	N	0.504471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.1834	0.15171	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PSG11	48211363	0.999000	0.42202	0.061000	0.19648	0.022000	0.10575	0.370000	0.20433	0.437000	0.26423	0.184000	0.17185	.		0.502	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323079.1	NM_002785	Intron	33	129	0	0	0	0.009718	0	33	129				
PSG4	5672	broad.mit.edu	37	19	43708260	43708260	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:43708260C>A	ENST00000405312.3	-	2	445	c.208G>T	c.(208-210)Ggg>Tgg	p.G70W	PSG4_ENST00000244295.9_Missense_Mutation_p.G70W|PSG4_ENST00000433626.2_Missense_Mutation_p.G70W	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	70	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GTCATTTGCCCTTTGTACCAA	0.423																																							uc002ovy.2		NA																	0				ovary(1)	1						c.(208-210)GGG>TGG		pregnancy specific beta-1-glycoprotein 4 isoform							187.0	198.0	194.0					19																	43708260		2128	4269	6397	SO:0001583	missense	5672				defense response|female pregnancy	extracellular region		g.chr19:43708260C>A		CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			ENSG00000243137	ENSG00000243137		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9521	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1-glycoprotein 4"""	176393				2783133	Standard	NM_002780		Approved		uc002ovy.4	Q00888	OTTHUMG00000151544	ENST00000405312.3:c.208G>T	19.37:g.43708260C>A	ENSP00000384770:p.Gly70Trp					PSG4_uc002owa.2_RNA|PSG4_uc002owb.2_Missense_Mutation_p.G70W|PSG4_uc002ovz.2_Missense_Mutation_p.G70W	p.G70W	NM_002780	NP_002771	Q00888	PSG4_HUMAN			2	310	-		Prostate(69;0.00682)	70			Ig-like V-type.		E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Missense_Mutation	SNP	ENST00000405312.3	37	c.208G>T	CCDS46093.1	.	.	.	.	.	.	.	.	.	.	N	10.77	1.443756	0.25987	.	.	ENSG00000243137	ENST00000244295;ENST00000405312;ENST00000433626;ENST00000451895	T;T;T;T	0.01854	4.6;4.6;4.6;4.6	1.65	1.65	0.23941	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.15955	0.0384	H	0.95151	3.63	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.02975	-1.1087	9	0.87932	D	0	.	6.8053	0.23774	0.0:1.0:0.0:0.0	.	70;70;70	E7EX79;Q00888-2;Q00888	.;.;PSG4_HUMAN	W	70;70;70;86	ENSP00000244295:G70W;ENSP00000384770:G70W;ENSP00000387864:G70W;ENSP00000388134:G86W	ENSP00000244295:G70W	G	-	1	0	PSG4	48400100	0.307000	0.24500	0.006000	0.13384	0.016000	0.09150	0.667000	0.25112	1.251000	0.43983	0.173000	0.16961	GGG		0.423	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323073.1	NM_213633		109	113	1	0	1.51877e-38	0.00361	2.77105e-38	109	113				
ZNF230	7773	broad.mit.edu	37	19	44514466	44514466	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:44514466G>T	ENST00000429154.2	+	5	503	c.275G>T	c.(274-276)tGc>tTc	p.C92F		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	92	KRNB.			C -> V (in Ref. 1; AAB62180). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				GACTGCCCTTGCCAGCAAATC	0.453																																					GBM(175;914 2069 22996 47111 52600)	GBM(175;914 2069 22996 47111 52600)	uc002oyb.1		NA																	0					0						c.(274-276)TGC>TTC		zinc finger protein 230							88.0	79.0	82.0					19																	44514466		2203	4300	6503	SO:0001583	missense	7773				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44514466G>T	U95044	CCDS33044.1	19q13.31	2013-01-08				ENSG00000159882		"""Zinc fingers, C2H2-type"", ""-"""	13024	protein-coding gene	gene with protein product							Standard	NM_006300		Approved	FDZF2	uc002oyb.1	Q9UIE0		ENST00000429154.2:c.275G>T	19.37:g.44514466G>T	ENSP00000409318:p.Cys92Phe						p.C92F	NM_006300	NP_006291	Q9UIE0	ZN230_HUMAN			5	526	+		Prostate(69;0.0352)	92	C -> V (in Ref. 1; AAB62180).		KRNB.		O15322|Q504X7|Q86W84|Q9P1U6	Missense_Mutation	SNP	ENST00000429154.2	37	c.275G>T	CCDS33044.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.176712	0.38413	.	.	ENSG00000159882	ENST00000429154	T	0.05258	3.47	1.98	-2.34	0.06704	.	.	.	.	.	T	0.05547	0.0146	M	0.63843	1.955	0.09310	N	1	B	0.14012	0.009	B	0.11329	0.006	T	0.48958	-0.8988	9	0.09084	T	0.74	.	3.6892	0.08339	0.295:0.406:0.2989:0.0	.	92	Q9UIE0	ZN230_HUMAN	F	92	ENSP00000409318:C92F	ENSP00000409318:C92F	C	+	2	0	ZNF230	49206306	0.009000	0.17119	0.004000	0.12327	0.427000	0.31564	1.428000	0.34892	-0.452000	0.07087	0.195000	0.17529	TGC		0.453	ZNF230-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460456.1			16	54	1	0	1.01871e-10	0.008871	1.42505e-10	16	54				
ZNF223	7766	broad.mit.edu	37	19	44570392	44570392	+	Silent	SNP	A	A	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:44570392A>G	ENST00000434772.3	+	5	666	c.411A>G	c.(409-411)ggA>ggG	p.G137G	ZNF223_ENST00000591793.1_Silent_p.G247G	NM_013361.4	NP_037493.3	Q9UK11	ZN223_HUMAN	zinc finger protein 223	137					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				TTGAGGAAGGACTATCTATAA	0.438																																							uc002oyf.1		NA																	0				ovary(1)	1						c.(409-411)GGA>GGG		zinc finger protein 223							110.0	90.0	97.0					19																	44570392		2203	4300	6503	SO:0001819	synonymous_variant	7766				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44570392A>G	AF187989	CCDS12635.1	19q13.2	2013-01-08				ENSG00000178386		"""Zinc fingers, C2H2-type"", ""-"""	13016	protein-coding gene	gene with protein product							Standard	XM_006723365		Approved		uc002oyf.1	Q9UK11		ENST00000434772.3:c.411A>G	19.37:g.44570392A>G						ZNF284_uc010ejd.2_RNA	p.G137G	NM_013361	NP_037493	Q9UK11	ZN223_HUMAN			5	664	+		Prostate(69;0.0352)	137					Q15736|Q8TBJ3|Q9HCA9	Silent	SNP	ENST00000434772.3	37	c.411A>G	CCDS12635.1																																																																																				0.438	ZNF223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460469.2			22	66	0	0	0	0.001882	0	22	66				
ZNF112	7771	broad.mit.edu	37	19	44833074	44833074	+	Silent	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:44833074T>A	ENST00000337401.4	-	5	1342	c.1254A>T	c.(1252-1254)atA>atT	p.I418I	ZNF112_ENST00000354340.4_Silent_p.I412I|ZNF112_ENST00000536500.1_Silent_p.I435I	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	418					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TTCCATACTCTATATCTGTGT	0.348																																						Melanoma(53;975 1202 7512 15993 27273)	uc010ejj.2		NA																	0				ovary(3)|skin(2)	5						c.(1252-1254)ATA>ATT		zinc finger protein 228 isoform 1							82.0	81.0	82.0					19																	44833074		2202	4300	6502	SO:0001819	synonymous_variant	7771				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44833074T>A	AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"""Zinc fingers, C2H2-type"""	12892	protein-coding gene	gene with protein product		603994	"""zinc finger protein 112 homolog (mouse)"", ""zinc finger protein 228"""	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.1254A>T	19.37:g.44833074T>A						ZFP112_uc002ozc.3_Silent_p.I412I|ZFP112_uc010xwy.1_Silent_p.I435I|ZFP112_uc010xwz.1_Silent_p.I417I	p.I418I	NM_001083335	NP_001076804	Q9UJU3	ZF112_HUMAN			5	1367	-			418					A4FU53|Q9HCA7	Silent	SNP	ENST00000337401.4	37	c.1254A>T	CCDS54276.1																																																																																				0.348	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380		20	65	0	0	0	0.002299	0	20	65				
ZNF180	7733	broad.mit.edu	37	19	44980970	44980970	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:44980970C>A	ENST00000221327.4	-	5	2009	c.1728G>T	c.(1726-1728)ccG>ccT	p.P576P	ZNF180_ENST00000592529.1_Silent_p.P549P|AC069278.4_ENST00000591684.1_lincRNA|ZNF180_ENST00000585514.1_5'Flank|ZNF180_ENST00000391956.4_Silent_p.P551P	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	576					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				TACATTCATACGGTTTTTCCC	0.403																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)	Esophageal Squamous(180;1353 2003 32862 46574 49854)	uc002ozf.3		NA																	0		p.P576L(1)		ovary(2)	2						c.(1726-1728)CCG>CCT		zinc finger protein 180							104.0	104.0	104.0					19																	44980970		2203	4300	6503	SO:0001819	synonymous_variant	7733				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44980970C>A	AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"""Zinc fingers, C2H2-type"", ""-"""	12970	protein-coding gene	gene with protein product		606740	"""zinc finger protein 180 (HHZ168)"""				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.1728G>T	19.37:g.44980970C>A						ZNF180_uc002ozh.3_Silent_p.P233P|ZNF180_uc002ozi.3_Silent_p.P549P|ZNF180_uc002ozg.3_Silent_p.P575P|ZNF180_uc010ejm.2_Silent_p.P551P	p.P576P	NM_013256	NP_037388	Q9UJW8	ZN180_HUMAN			5	2010	-		Prostate(69;0.0435)	576					B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Silent	SNP	ENST00000221327.4	37	c.1728G>T	CCDS12639.1																																																																																				0.403	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1	NM_013256		49	70	1	0	2.48909e-17	0.00361	4.00571e-17	49	70				
APOC1	341	broad.mit.edu	37	19	45419582	45419583	+	Splice_Site	DNP	GG	GG	TT	rs531411684		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:45419582_45419583GG>TT	ENST00000588750.1	+	4	519	c.194_194GG>TT	c.(193-195)cGGg>cTTgg	p.R65L	APOC1_ENST00000586638.1_Missense_Mutation_p.R65L|APOC1_ENST00000588802.1_Splice_Site_p.R65L|APOC1_ENST00000252491.4_Splice_Site_p.R65L|APOC1_ENST00000592885.1_Missense_Mutation_p.R65L|APOC1_ENST00000589781.1_Intron			P02654	APOC1_HUMAN	apolipoprotein C-I	65					cholesterol efflux (GO:0033344)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of lipoprotein lipase activity (GO:0051005)|negative regulation of phosphatidylcholine catabolic process (GO:0010900)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|plasma lipoprotein particle remodeling (GO:0034369)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cholesterol esterification (GO:0010873)|regulation of cholesterol transport (GO:0032374)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle assembly (GO:0034379)|very-low-density lipoprotein particle clearance (GO:0034447)	chylomicron (GO:0042627)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	fatty acid binding (GO:0005504)|lipase inhibitor activity (GO:0055102)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipase inhibitor activity (GO:0004859)			cervix(1)|large_intestine(1)|lung(2)	4	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)		GCCAAGATGCGGTTAGAACCCT	0.51																																							uc002pac.1		NA																	0					0						c.e4+1		apolipoprotein C-I precursor																																				SO:0001630	splice_region_variant	341				cholesterol efflux|chylomicron remnant clearance|high-density lipoprotein particle remodeling|lipoprotein metabolic process|negative regulation of cholesterol transport|negative regulation of fatty acid biosynthetic process|negative regulation of lipoprotein lipase activity|negative regulation of phosphatidylcholine catabolic process|negative regulation of receptor-mediated endocytosis|negative regulation of very-low-density lipoprotein particle clearance|phospholipid efflux|positive regulation of cholesterol esterification|very-low-density lipoprotein particle assembly|very-low-density lipoprotein particle clearance	chylomicron|endoplasmic reticulum|high-density lipoprotein particle|very-low-density lipoprotein particle	fatty acid binding|phosphatidylcholine binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipase inhibitor activity	g.chr19:45419582_45419583GG>TT	X00570	CCDS12648.1	19q13.2	2013-01-24				ENSG00000130208		"""Apolipoproteins"""	607	protein-coding gene	gene with protein product		107710					Standard	NM_001645		Approved		uc002pae.1	P02654		Exception_encountered	19.37:g.45419582_45419583delinsTT						APOC1_uc002pad.1_Splice_Site_p.R65_splice|APOC1_uc002pae.1_Splice_Site_p.R65_splice|APOC1_uc002paf.1_Splice_Site	p.R65_splice	NM_001645	NP_001636	P02654	APOC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	4	446	+	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)						B2R526|Q6IB97	Splice_Site	DNP	ENST00000588750.1	37	c.194_splice	CCDS12648.1																																																																																				0.510	APOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453245.1		Missense_Mutation	21	70	0	0	0	0.004672	0	21	70				
PPP1R13L	10848	broad.mit.edu	37	19	45885899	45885900	+	Missense_Mutation	DNP	GG	GG	AC			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:45885899_45885900GG>AC	ENST00000418234.2	-	12	2411_2412	c.2333_2334CC>GT	c.(2332-2334)tCC>tGT	p.S778C	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.S778C	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	778	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CCTCGCGGAAGGACAGCTCGTC	0.683																																					Pancreas(61;1447 1663 31419 50578)	Pancreas(61;1447 1663 31419 50578)	uc002pbn.2		NA																	0				skin(1)	1						c.(2332-2334)TCC>TGT		protein phosphatase 1, regulatory subunit 13																																				SO:0001583	missense	10848				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding	g.chr19:45885899_45885900GG>AC	AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"""Ankyrin repeat domain containing"""	18838	protein-coding gene	gene with protein product		607463	"""protein phosphatase 1, regulatory (inhibitor) subunit 13 like"""			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.2333_2334delinsAC	19.37:g.45885899_45885900delinsAC	ENSP00000403902:p.Ser778Cys					PPP1R13L_uc002pbm.2_Missense_Mutation_p.S357C|PPP1R13L_uc002pbo.2_Missense_Mutation_p.S778C	p.S778C	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0182)	12	2410_2411	-		all_neural(266;0.224)|Ovarian(192;0.231)	778			SH3.		Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Missense_Mutation	DNP	ENST00000418234.2	37	c.2333_2334CC>GT	CCDS33050.1																																																																																				0.683	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457586.1	NM_006663		22	53	0	0	0	0.004672	0	22	53				
GPR4	2828	broad.mit.edu	37	19	46094935	46094935	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:46094935G>C	ENST00000323040.4	-	2	1134	c.190C>G	c.(190-192)Ctg>Gtg	p.L64V	GPR4_ENST00000591614.1_5'Flank|OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	64					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		ATGTACAGCAGGTCGGCGATG	0.632																																					Esophageal Squamous(117;181 1612 1673 14956 42937)	Esophageal Squamous(117;181 1612 1673 14956 42937)	uc002pcm.2		NA																	0				ovary(2)	2						c.(190-192)CTG>GTG		G protein-coupled receptor 4							114.0	96.0	102.0					19																	46094935		2203	4300	6503	SO:0001583	missense	2828					integral to plasma membrane	G-protein coupled receptor activity	g.chr19:46094935G>C	BC067536	CCDS12669.1	19q13.3	2012-08-21				ENSG00000177464		"""GPCR / Class A : Orphans"""	4497	protein-coding gene	gene with protein product		600551				8595909	Standard	NM_005282		Approved		uc002pcm.3	P46093		ENST00000323040.4:c.190C>G	19.37:g.46094935G>C	ENSP00000319744:p.Leu64Val					OPA3_uc010xxk.1_Intron	p.L64V	NM_005282	NP_005273	P46093	GPR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)	2	1135	-			64			Helical; Name=2; (Potential).		A8K3T3|B0M0K1|Q6NWM4	Missense_Mutation	SNP	ENST00000323040.4	37	c.190C>G	CCDS12669.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.676014	0.67928	.	.	ENSG00000177464	ENST00000323040	T	0.52295	0.67	5.09	5.09	0.68999	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000117	T	0.69477	0.3115	M	0.78801	2.425	0.45452	D	0.998422	D	0.89917	1.0	D	0.91635	0.999	T	0.72574	-0.4252	10	0.54805	T	0.06	.	15.9786	0.80089	0.0:0.0:1.0:0.0	.	64	P46093	GPR4_HUMAN	V	64	ENSP00000319744:L64V	ENSP00000319744:L64V	L	-	1	2	GPR4	50786775	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	2.849000	0.48286	2.355000	0.79922	0.297000	0.19635	CTG		0.632	GPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459603.1	NM_005282		20	97	0	0	0	0.001882	0	20	97				
HIF3A	64344	broad.mit.edu	37	19	46832479	46832479	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:46832479G>T	ENST00000377670.4	+	12	1487	c.1456G>T	c.(1456-1458)Gat>Tat	p.D486Y	HIF3A_ENST00000339613.2_Missense_Mutation_p.D430Y|HIF3A_ENST00000600383.1_Missense_Mutation_p.D417Y|HIF3A_ENST00000420102.2_Missense_Mutation_p.D435Y|HIF3A_ENST00000300862.3_Missense_Mutation_p.D484Y|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000244303.6_Missense_Mutation_p.D417Y|HIF3A_ENST00000472815.1_Intron	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	486	NTAD.|ODD.				cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		TGATGCTCTGGATTTGGAGAT	0.587																																							uc002peh.2		NA																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(1456-1458)GAT>TAT		hypoxia inducible factor 3, alpha subunit							86.0	77.0	80.0					19																	46832479		2203	4300	6503	SO:0001583	missense	64344				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr19:46832479G>T	AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"""Basic helix-loop-helix proteins"""	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.1456G>T	19.37:g.46832479G>T	ENSP00000366898:p.Asp486Tyr					HIF3A_uc002peg.3_Missense_Mutation_p.D486Y|HIF3A_uc002pei.3_Missense_Mutation_p.D430Y|HIF3A_uc002pej.1_Intron|HIF3A_uc002pek.2_Missense_Mutation_p.D430Y|HIF3A_uc010xxy.1_Missense_Mutation_p.D417Y|HIF3A_uc002pel.2_Missense_Mutation_p.D484Y|HIF3A_uc010xxz.1_Missense_Mutation_p.D435Y	p.D486Y	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)	12	1485	+		Ovarian(192;0.00965)|all_neural(266;0.0887)	486			NTAD.|ODD.		B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Missense_Mutation	SNP	ENST00000377670.4	37	c.1456G>T	CCDS12681.2	.	.	.	.	.	.	.	.	.	.	G	19.29	3.799235	0.70567	.	.	ENSG00000124440	ENST00000244302;ENST00000377670;ENST00000244303;ENST00000339613;ENST00000291300;ENST00000300862;ENST00000420102	D;D;D;D;D	0.98822	-5.16;-5.16;-5.16;-5.16;-5.16	4.82	4.82	0.62117	.	0.000000	0.44483	D	0.000455	D	0.98785	0.9591	M	0.68952	2.095	0.51482	D	0.999929	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D	0.77557	0.99;0.966;0.961;0.99;0.99;0.966	D	0.99368	1.0919	10	0.87932	D	0	.	13.769	0.63012	0.0:0.0:1.0:0.0	.	435;417;484;430;486;486	F5H884;B4DNA2;Q9Y2N7-2;A8MPQ1;Q9Y2N7;B0M185	.;.;.;.;HIF3A_HUMAN;.	Y	486;486;417;430;430;484;435	ENSP00000366898:D486Y;ENSP00000244303:D417Y;ENSP00000341877:D430Y;ENSP00000300862:D484Y;ENSP00000407771:D435Y	ENSP00000244302:D486Y	D	+	1	0	HIF3A	51524319	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.269000	0.72558	2.394000	0.81467	0.655000	0.94253	GAT		0.587	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280556.3			31	93	1	0	4.4194e-11	0.002836	6.26468e-11	31	93				
CALM3	808	broad.mit.edu	37	19	47112165	47112165	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:47112165G>A	ENST00000291295.9	+	5	547	c.348G>A	c.(346-348)aaG>aaA	p.K116K	CALM3_ENST00000594523.1_Silent_p.K80K|CTB-12A17.3_ENST00000597609.1_RNA|CALM3_ENST00000597743.1_Intron|CALM3_ENST00000391918.2_Silent_p.K80K|CALM3_ENST00000477244.1_3'UTR|CALM3_ENST00000599839.1_Silent_p.K80K|CALM3_ENST00000596362.1_Silent_p.K116K|CALM3_ENST00000598871.1_Silent_p.K80K	NM_005184.2	NP_005175.2	P62158	CALM_HUMAN	calmodulin 3 (phosphorylase kinase, delta)	116	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|detection of calcium ion (GO:0005513)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide metabolic process (GO:0046209)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cyclic nucleotide metabolic process (GO:0030801)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cytokinesis (GO:0032465)|regulation of heart rate (GO:0002027)|regulation of high voltage-gated calcium channel activity (GO:1901841)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcomere (GO:0030017)|spindle microtubule (GO:0005876)|spindle pole (GO:0000922)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|N-terminal myristoylation domain binding (GO:0031997)|nitric-oxide synthase regulator activity (GO:0030235)|phospholipase binding (GO:0043274)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|protein phosphatase activator activity (GO:0072542)|protein serine/threonine kinase activator activity (GO:0043539)|thioesterase binding (GO:0031996)|titin binding (GO:0031432)			breast(1)|cervix(2)|endometrium(1)|lung(1)|ovary(1)	6		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000683)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0341)	Aprindine(DB01429)|Bepridil(DB01244)|Chlorpromazine(DB00477)|Cinchocaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Melatonin(DB01065)|Nicardipine(DB00622)|Nifedipine(DB01115)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)|Trifluoperazine(DB00831)	TGGGGGAGAAGCTGACCGATG	0.552																																							uc002pew.2		NA																	0				ovary(1)	1						c.(346-348)AAG>AAA		calmodulin 3	Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)						95.0	74.0	81.0					19																	47112165		2203	4300	6503	SO:0001819	synonymous_variant	808				activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission	centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole	calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding	g.chr19:47112165G>A		CCDS33061.1	19q13.2-q13.3	2013-02-25			ENSG00000160014	ENSG00000160014		"""EF-hand domain containing"", ""Endogenous ligands"""	1449	protein-coding gene	gene with protein product	"""prepro-calmodulin 3"""	114183					Standard	NM_005184		Approved	PHKD	uc002pew.3	P62158	OTTHUMG00000133517	ENST00000291295.9:c.348G>A	19.37:g.47112165G>A						CALM3_uc010ekp.2_Silent_p.K80K|CALM3_uc010xyc.1_Silent_p.K116K	p.K116K	NM_005184	NP_005175	P62158	CALM_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000683)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0341)	5	528	+		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	116			EF-hand 3.		P02593|P70667|P99014|Q13942|Q53S29|Q61379|Q61380|Q96HK3	Silent	SNP	ENST00000291295.9	37	c.348G>A	CCDS33061.1																																																																																				0.552	CALM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257483.2			19	31	0	0	0	0.002299	0	19	31				
LMTK3	114783	broad.mit.edu	37	19	49005745	49005745	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:49005745C>G	ENST00000600059.1	-	7	966	c.739G>C	c.(739-741)Ggc>Cgc	p.G247R	LMTK3_ENST00000270238.3_Missense_Mutation_p.G276R			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	247	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		ATCTCCAGGCCCATCCTCTGC	0.711																																							uc002pjk.2		NA																	0				lung(5)|central_nervous_system(1)	6						c.(826-828)GGC>CGC		lemur tyrosine kinase 3							22.0	27.0	26.0					19																	49005745		1963	4133	6096	SO:0001583	missense	114783							g.chr19:49005745C>G	AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 101"""						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.739G>C	19.37:g.49005745C>G	ENSP00000472020:p.Gly247Arg						p.G276R	NM_001080434	NP_001073903				OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)	8	826	-		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)						Q4G0U1	Missense_Mutation	SNP	ENST00000600059.1	37	c.826G>C		.	.	.	.	.	.	.	.	.	.	C	32	5.112559	0.94339	.	.	ENSG00000142235	ENST00000270238	D	0.82526	-1.62	3.6	3.6	0.41247	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.081068	0.46442	U	0.000289	D	0.86879	0.6039	L	0.46157	1.445	0.41537	D	0.988499	D	0.71674	0.998	D	0.70016	0.967	D	0.88391	0.3008	10	0.87932	D	0	.	13.1077	0.59257	0.0:1.0:0.0:0.0	.	247	Q96Q04	LMTK3_HUMAN	R	276	ENSP00000270238:G276R	ENSP00000270238:G276R	G	-	1	0	LMTK3	53697557	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.090000	0.57693	2.023000	0.59567	0.542000	0.68232	GGC		0.711	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	NM_052895		7	60	0	0	0	0.004482	0	7	60				
FUT1	2523	broad.mit.edu	37	19	49253552	49253552	+	Silent	SNP	G	G	A	rs374497042		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:49253552G>A	ENST00000310160.3	-	4	1961	c.987C>T	c.(985-987)acC>acT	p.T329T	FUT1_ENST00000601931.1_5'Flank	NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)	329					carbohydrate metabolic process (GO:0005975)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		AGTCTGGCAGGGTGAAGTTGG	0.567																																							uc002pkk.2		NA																	0				ovary(1)	1						c.(985-987)ACC>ACT		fucosyltransferase 1							88.0	70.0	76.0					19																	49253552		2203	4300	6503	SO:0001819	synonymous_variant	2523				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity	g.chr19:49253552G>A		CCDS12733.1	19q13.33	2014-07-19	2006-01-19		ENSG00000174951	ENSG00000174951	2.4.1.69	"""Blood group antigens"", ""Fucosyltransferases"""	4012	protein-coding gene	gene with protein product		211100	"""fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, Bombay phenotype included)"", ""fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase)"""	H, HSC			Standard	NM_000148		Approved		uc002pkk.3	P19526		ENST00000310160.3:c.987C>T	19.37:g.49253552G>A							p.T329T	NM_000148	NP_000139	P19526	FUT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)	4	1962	-		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	329			Lumenal (Potential).		O14505|O14506|O14507	Silent	SNP	ENST00000310160.3	37	c.987C>T	CCDS12733.1																																																																																				0.567	FUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466194.1	NM_000148		17	7	0	0	0	0.008871	0	17	7				
TBC1D17	79735	broad.mit.edu	37	19	50391574	50391574	+	Splice_Site	SNP	C	C	T	rs571583665		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:50391574C>T	ENST00000221543.5	+	16	2045	c.1746C>T	c.(1744-1746)ccC>ccT	p.P582P	TBC1D17_ENST00000535102.2_Splice_Site_p.P549P|MIR4750_ENST00000584564.1_RNA	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	582					autophagy (GO:0006914)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	Rab GTPase activator activity (GO:0005097)			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		CCGCCTGCCCCGTGAGTCCCC	0.697													C|||	1	0.000199681	0.0	0.0	5008	,	,		6806	0.0		0.0	False		,,,				2504	0.001						uc002pqo.2		NA																	0					0						c.(1744-1746)CCC>CCT		TBC1 domain family, member 17							8.0	11.0	10.0					19																	50391574		2138	4209	6347	SO:0001630	splice_region_variant	79735					intracellular	Rab GTPase activator activity	g.chr19:50391574C>T	AK090606	CCDS12785.1, CCDS54294.1	19q13.33	2013-07-09				ENSG00000104946			25699	protein-coding gene	gene with protein product						22854040	Standard	NM_024682		Approved	FLJ12168	uc002pqo.3	Q9HA65		ENST00000221543.5:c.1746+1C>T	19.37:g.50391574C>T						TBC1D17_uc010ybg.1_Silent_p.P549P|TBC1D17_uc002pqp.2_Silent_p.P233P|TBC1D17_uc002pqr.2_Silent_p.P233P|TBC1D17_uc002pqs.2_RNA|IL4I1_uc002pqv.1_3'UTR|IL4I1_uc010eno.1_3'UTR|IL4I1_uc002pqw.1_3'UTR	p.P582P	NM_024682	NP_078958	Q9HA65	TBC17_HUMAN		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	16	1898	+		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)	582					B4DT12|B9A6L8|F5H1W7	Silent	SNP	ENST00000221543.5	37	c.1746C>T	CCDS12785.1																																																																																				0.697	TBC1D17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466404.1	NM_024682	Silent	6	7	0	0	0	0.001168	0	6	7				
ZNF473	25888	broad.mit.edu	37	19	50542426	50542426	+	Silent	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:50542426G>C	ENST00000595661.1	+	4	513	c.18G>C	c.(16-18)gtG>gtC	p.V6V	ZNF473_ENST00000270617.3_Silent_p.V6V|ZNF473_ENST00000391821.2_Silent_p.V6V|ZNF473_ENST00000445728.3_5'UTR|ZNF473_ENST00000601364.1_Silent_p.V6V			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	6	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		AGGAATTTGTGACCCTCAAGG	0.577																																							uc002prn.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(16-18)GTG>GTC		zinc finger protein 473							166.0	145.0	152.0					19																	50542426		2203	4300	6503	SO:0001819	synonymous_variant	25888				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding	g.chr19:50542426G>C	AB032967	CCDS33077.1	19q13.33	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.18G>C	19.37:g.50542426G>C						ZNF473_uc002prm.2_Silent_p.V6V|ZNF473_uc010ybo.1_5'UTR	p.V6V	NM_001006656	NP_001006657	Q8WTR7	ZN473_HUMAN		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)	3	255	+		all_neural(266;0.0459)|Ovarian(192;0.0728)	6			KRAB.		A8K8T7|Q9ULS9|Q9Y4Q7	Silent	SNP	ENST00000595661.1	37	c.18G>C	CCDS33077.1																																																																																				0.577	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	XM_046390		85	53	0	0	0	0.00361	0	85	53				
NAPSA	9476	broad.mit.edu	37	19	50868854	50868854	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:50868854G>A	ENST00000253719.2	-	1	233	c.25C>T	c.(25-27)Ccc>Tcc	p.P9S	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron|CTB-191K22.6_ENST00000597049.1_RNA	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	9					membrane protein proteolysis (GO:0033619)|proteolysis (GO:0006508)|surfactant homeostasis (GO:0043129)	alveolar lamellar body (GO:0097208)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)|peptidase activity (GO:0008233)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		agcagcaggggttgcagcagc	0.602																																							uc002prx.2		NA																	0					0						c.(25-27)CCC>TCC		napsin A preproprotein							39.0	36.0	37.0					19																	50868854		2203	4300	6503	SO:0001583	missense	9476				proteolysis	extracellular region	aspartic-type endopeptidase activity	g.chr19:50868854G>A	AF090386	CCDS12794.1	19q13.33	2011-08-25				ENSG00000131400			13395	protein-coding gene	gene with protein product	"""kidney-derived aspartic protease-like protein"""	605631					Standard	NM_004851		Approved	NAP1, NAPA, Kdap, KAP	uc002prx.3	O96009		ENST00000253719.2:c.25C>T	19.37:g.50868854G>A	ENSP00000253719:p.Pro9Ser					NR1H2_uc002prv.3_Intron	p.P9S	NM_004851	NP_004842	O96009	NAPSA_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)	1	78	-		all_neural(266;0.057)	9					Q8WWD9	Missense_Mutation	SNP	ENST00000253719.2	37	c.25C>T	CCDS12794.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.636479	0.00806	.	.	ENSG00000131400	ENST00000253719	T	0.28454	1.61	0.235	0.235	0.15431	Peptidase aspartic (1);	1.921390	0.02192	N	0.061423	T	0.23210	0.0561	N	0.08118	0	0.09310	N	1	P	0.48350	0.909	P	0.50440	0.641	T	0.24083	-1.0170	9	0.20046	T	0.44	.	.	.	.	.	9	O96009	NAPSA_HUMAN	S	9	ENSP00000253719:P9S	ENSP00000253719:P9S	P	-	1	0	NAPSA	55560666	0.029000	0.19370	0.017000	0.16124	0.115000	0.19883	0.590000	0.23954	0.308000	0.22923	0.313000	0.20887	CCC		0.602	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464714.1	NM_004851		12	8	0	0	0	0.000978	0	12	8				
SYT3	84258	broad.mit.edu	37	19	51140624	51140624	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:51140624G>C	ENST00000338916.4	-	1	678	c.45C>G	c.(43-45)atC>atG	p.I15M	SYT3_ENST00000544769.1_Missense_Mutation_p.I15M|SYT3_ENST00000593901.1_Missense_Mutation_p.I15M|SYT3_ENST00000600079.1_Missense_Mutation_p.I15M	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	15					calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CCGAGACCAGGATGAGTGCCC	0.622																																							uc002pst.2		NA																	0				ovary(2)|breast(1)	3						c.(43-45)ATC>ATG		synaptotagmin III							49.0	46.0	47.0					19																	51140624		2203	4300	6503	SO:0001583	missense	84258					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:51140624G>C	AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"""Synaptotagmins"""	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.45C>G	19.37:g.51140624G>C	ENSP00000340914:p.Ile15Met					SYT3_uc002psv.2_Missense_Mutation_p.I15M|SYT3_uc010ycd.1_Missense_Mutation_p.I15M	p.I15M	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)	1	679	-		all_neural(266;0.131)	15			Vesicular (Potential).		Q8N5Z1|Q8N640	Missense_Mutation	SNP	ENST00000338916.4	37	c.45C>G	CCDS12798.1	.	.	.	.	.	.	.	.	.	.	G	10.58	1.388887	0.25118	.	.	ENSG00000213023	ENST00000338916;ENST00000544769	T;T	0.58652	0.32;0.32	3.93	0.409	0.16382	.	0.650998	0.12969	U	0.424307	T	0.25306	0.0615	N	0.02011	-0.69	0.24470	N	0.994397	B	0.27068	0.167	B	0.20577	0.03	T	0.15607	-1.0431	10	0.44086	T	0.13	.	5.896	0.18939	0.1842:0.2956:0.5201:0.0	.	15	Q9BQG1	SYT3_HUMAN	M	15	ENSP00000340914:I15M;ENSP00000438883:I15M	ENSP00000340914:I15M	I	-	3	3	SYT3	55832436	0.997000	0.39634	0.997000	0.53966	0.950000	0.60333	0.627000	0.24506	0.056000	0.16144	0.462000	0.41574	ATC		0.622	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464910.1	NM_032298		28	26	0	0	0	0.007291	0	28	26				
KLK4	9622	broad.mit.edu	37	19	51412616	51412616	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:51412616G>A	ENST00000324041.1	-	2	115	c.116C>T	c.(115-117)cCg>cTg	p.P39L	KLK4_ENST00000431178.2_5'Flank|KLK4_ENST00000597441.1_5'Flank	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	39	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				amelogenesis (GO:0097186)|extracellular matrix disassembly (GO:0022617)|protein catabolic process (GO:0030163)|proteolysis (GO:0006508)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		CTGCGAGTGCGGGCTGCAGTC	0.637																																							uc002pua.1		NA																	0					0						c.(115-117)CCG>CTG		kallikrein-related peptidase 4 preproprotein							135.0	149.0	144.0					19																	51412616		2203	4300	6503	SO:0001583	missense	9622				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr19:51412616G>A	AF113141	CCDS12809.1	19q13.41	2014-09-04	2006-10-27		ENSG00000167749	ENSG00000167749		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6365	protein-coding gene	gene with protein product		603767	"""kallikrein 4 (prostase, enamel matrix, prostate)"""	PRSS17		10077646, 10438493, 16800724, 10863090, 9465170	Standard	XM_005259441		Approved	EMSP, EMSP1, PSTS, KLK-L1	uc002pua.1	Q9Y5K2	OTTHUMG00000182964	ENST00000324041.1:c.116C>T	19.37:g.51412616G>A	ENSP00000326159:p.Pro39Leu					KLK4_uc002pty.1_5'UTR|KLK4_uc002ptz.1_RNA|KLK4_uc002pub.1_5'UTR|KLK4_uc002puc.1_RNA|KLK4_uc010eoi.1_5'UTR|KLK4_uc002pud.1_5'Flank	p.P39L	NM_004917	NP_004908	Q9Y5K2	KLK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)	2	116	-		all_neural(266;0.026)	39			Peptidase S1.		Q4VB16|Q96RU5|Q9GZL6|Q9UBJ6	Missense_Mutation	SNP	ENST00000324041.1	37	c.116C>T	CCDS12809.1	.	.	.	.	.	.	.	.	.	.	g	13.45	2.240362	0.39598	.	.	ENSG00000167749	ENST00000324041	D	0.88975	-2.45	3.96	2.9	0.33743	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.39083	N	0.001468	D	0.82435	0.5036	L	0.51853	1.615	0.09310	N	0.999996	B	0.28400	0.21	B	0.20384	0.029	T	0.73254	-0.4041	10	0.49607	T	0.09	.	6.8721	0.24127	0.0:0.1958:0.6024:0.2018	.	39	Q9Y5K2	KLK4_HUMAN	L	39	ENSP00000326159:P39L	ENSP00000326159:P39L	P	-	2	0	KLK4	56104428	0.002000	0.14202	0.005000	0.12908	0.232000	0.25224	0.404000	0.20999	0.973000	0.38340	0.561000	0.74099	CCG		0.637	KLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464449.1	NM_004917		186	116	0	0	0	0.00361	0	186	116				
CEACAM18	729767	broad.mit.edu	37	19	51986392	51986392	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:51986392C>A	ENST00000396477.4	+	4	816	c.795C>A	c.(793-795)taC>taA	p.Y265*	CEACAM18_ENST00000451626.1_Nonsense_Mutation_p.Y326*	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	265	Ig-like C2-type.									breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		ATCTCAAGTACCACTGGATCC	0.512																																							uc002pwv.1		NA																	0				skin(1)	1						c.(976-978)TAC>TAA		carcinoembryonic antigen-related cell adhesion							179.0	176.0	177.0					19																	51986392		2025	4193	6218	SO:0001587	stop_gained	729767					integral to membrane		g.chr19:51986392C>A			19q13.41	2013-01-29				ENSG00000213822		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31949	protein-coding gene	gene with protein product							Standard	NM_001278392		Approved		uc002pwv.1	A8MTB9		ENST00000396477.4:c.795C>A	19.37:g.51986392C>A	ENSP00000379738:p.Tyr265*						p.Y326*	NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	5	978	+		all_neural(266;0.0529)	326			Ig-like C2-type.		C9JN24	Nonsense_Mutation	SNP	ENST00000396477.4	37	c.978C>A		.	.	.	.	.	.	.	.	.	.	.	14.06	2.421301	0.42918	.	.	ENSG00000213822	ENST00000451626;ENST00000451086;ENST00000396477	.	.	.	2.76	1.71	0.24356	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.3222	5.8549	0.18714	0.0:0.8486:0.0:0.1514	.	.	.	.	X	326;265;265	.	ENSP00000379738:Y265X	Y	+	3	2	CEACAM18	56678204	0.031000	0.19500	0.543000	0.28128	0.095000	0.18619	0.247000	0.18179	0.766000	0.33244	0.456000	0.33151	TAC		0.512	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000323114.2			85	52	1	0	1.01459e-35	0.00361	1.84213e-35	85	52				
SIGLEC12	89858	broad.mit.edu	37	19	52000636	52000636	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:52000636A>T	ENST00000291707.3	-	6	1524	c.1469T>A	c.(1468-1470)cTg>cAg	p.L490Q	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.L372Q	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	490					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CAGGAAGACCAGGGCTGTGGC	0.557																																							uc002pwx.1		NA																	0				ovary(3)|skin(2)	5						c.(1468-1470)CTG>CAG		sialic acid binding immunoglobulin-like							172.0	150.0	157.0					19																	52000636		2203	4300	6503	SO:0001583	missense	89858				cell adhesion	integral to membrane	sugar binding	g.chr19:52000636A>T	AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15482	protein-coding gene	gene with protein product		606094	"""SIGLEC-like 1"", ""sialic acid binding Ig-like lectin 12"""	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.1469T>A	19.37:g.52000636A>T	ENSP00000291707:p.Leu490Gln					SIGLEC12_uc002pww.1_Missense_Mutation_p.L372Q|SIGLEC12_uc010eoy.1_Missense_Mutation_p.L217Q	p.L490Q	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)	6	1525	-		all_neural(266;0.0199)	490			Helical; (Potential).		Q8IYH7	Missense_Mutation	SNP	ENST00000291707.3	37	c.1469T>A	CCDS12833.1	.	.	.	.	.	.	.	.	.	.	.	10.06	1.246289	0.22796	.	.	ENSG00000254521	ENST00000291707	T	0.14516	2.5	1.69	1.69	0.24217	.	0.000000	0.28736	U	0.014306	T	0.34658	0.0905	M	0.87269	2.87	0.09310	N	1	B;D	0.89917	0.038;1.0	B;D	0.78314	0.04;0.991	T	0.04191	-1.0970	10	0.72032	D	0.01	.	5.4855	0.16747	1.0:0.0:0.0:0.0	.	490;372	Q96PQ1;Q96PQ1-2	SIG12_HUMAN;.	Q	490	ENSP00000291707:L490Q	ENSP00000291707:L490Q	L	-	2	0	SIGLEC12	56692448	0.001000	0.12720	0.010000	0.14722	0.381000	0.30169	1.111000	0.31159	1.047000	0.40274	0.325000	0.21440	CTG		0.557	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003		19	53	0	0	0	0.002852	0	19	53				
SIGLEC5	8778	broad.mit.edu	37	19	52130768	52130768	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:52130768C>A	ENST00000534261.2	-	7	1628	c.1229G>T	c.(1228-1230)tGc>tTc	p.C410F	SIGLEC5_ENST00000429354.3_Missense_Mutation_p.C410F|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.C410F|SIGLEC5_ENST00000222107.4_Missense_Mutation_p.C410F|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.C410F			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	410					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		CCAGGCCTTGCAGCTGACTTT	0.642																																							uc002pxe.2		NA																	0				skin(2)|breast(1)|central_nervous_system(1)	4						c.(1228-1230)TGC>TTC		sialic acid binding Ig-like lectin 5 precursor							76.0	74.0	75.0					19																	52130768		2203	4300	6503	SO:0001583	missense	8778				cell adhesion	integral to membrane	sugar binding	g.chr19:52130768C>A	U71383	CCDS33088.1	19q13.41	2013-01-29			ENSG00000105501	ENSG00000105501		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10874	protein-coding gene	gene with protein product		604200		CD33L2		10343116	Standard	NM_003830		Approved	OB-BP2, SIGLEC-5, CD170	uc002pxe.4	O15389	OTTHUMG00000165510	ENST00000534261.2:c.1229G>T	19.37:g.52130768C>A	ENSP00000473238:p.Cys410Phe						p.C410F	NM_003830	NP_003821	O15389	SIGL5_HUMAN		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)	6	1368	-		all_neural(266;0.0726)	410			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000534261.2	37	c.1229G>T	CCDS33088.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.710189	0.30322	.	.	ENSG00000105501	ENST00000222107;ENST00000429354	D;D	0.97328	-4.34;-4.34	3.98	3.98	0.46160	.	.	.	.	.	D	0.98400	0.9468	M	0.88377	2.95	0.32148	N	0.584584	D	0.89917	1.0	D	0.81914	0.995	D	0.97802	1.0245	9	0.72032	D	0.01	.	11.753	0.51859	0.0:1.0:0.0:0.0	.	410	O15389	SIGL5_HUMAN	F	410	ENSP00000222107:C410F;ENSP00000415200:C410F	ENSP00000222107:C410F	C	-	2	0	SIGLEC5	56822580	0.942000	0.31987	0.921000	0.36526	0.021000	0.10359	1.939000	0.40213	2.218000	0.71995	0.501000	0.49751	TGC		0.642	SIGLEC5-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466897.2	NM_003830		57	49	1	0	2.6711e-34	0.00361	4.81446e-34	57	49				
ZNF665	79788	broad.mit.edu	37	19	53668496	53668496	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:53668496T>A	ENST00000600412.1	-	2	1167	c.1052A>T	c.(1051-1053)cAc>cTc	p.H351L	ZNF665_ENST00000396424.3_Missense_Mutation_p.H416L|CTD-2245F17.2_ENST00000600257.1_RNA			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	351					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		ATTTGCTAAGTGTGAATACTG	0.403																																							uc010eqm.1		NA																	0				ovary(2)	2						c.(1246-1248)CAC>CTC		zinc finger protein 665							91.0	96.0	94.0					19																	53668496		2198	4299	6497	SO:0001583	missense	79788				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53668496T>A		CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"""Zinc fingers, C2H2-type"", ""-"""	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.1052A>T	19.37:g.53668496T>A	ENSP00000469154:p.His351Leu						p.H416L	NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN		GBM - Glioblastoma multiforme(134;0.0196)	4	1347	-			351			C2H2-type 9.		A8K5T8	Missense_Mutation	SNP	ENST00000600412.1	37	c.1247A>T		.	.	.	.	.	.	.	.	.	.	T	3.058	-0.193874	0.06259	.	.	ENSG00000197497	ENST00000396424	T	0.13089	2.62	2.2	-1.03	0.10102	.	.	.	.	.	T	0.07458	0.0188	N	0.20845	0.615	0.09310	N	1	B	0.31026	0.304	B	0.28784	0.094	T	0.36866	-0.9730	9	0.32370	T	0.25	.	6.8913	0.24230	0.0:0.5328:0.0:0.4672	.	416	Q9H7R5-2	.	L	416	ENSP00000379702:H416L	ENSP00000379702:H416L	H	-	2	0	ZNF665	58360308	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-5.260000	0.00137	-0.239000	0.09710	0.358000	0.22013	CAC		0.403	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733		38	23	0	0	0	0.007835	0	38	23				
SYT5	6861	broad.mit.edu	37	19	55686584	55686584	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:55686584G>T	ENST00000354308.3	-	6	1033	c.664C>A	c.(664-666)Cca>Aca	p.P222T	SYT5_ENST00000590851.1_Missense_Mutation_p.P219T|SYT5_ENST00000537500.1_Missense_Mutation_p.P222T|SYT5_ENST00000592935.1_5'Flank|CTD-2587H24.5_ENST00000591665.1_RNA	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	222					calcium ion-dependent exocytosis (GO:0017156)|energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|dense core granule (GO:0031045)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GCCTGCACTGGCCGCCCCAGG	0.716																																							uc002qjm.1		NA																	0					0						c.(664-666)CCA>ACA		synaptotagmin V							21.0	21.0	21.0					19																	55686584		2198	4296	6494	SO:0001583	missense	6861				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:55686584G>T	X96783	CCDS12919.1, CCDS74455.1	19q13.42	2014-07-02			ENSG00000129990	ENSG00000129990		"""Synaptotagmins"""	11513	protein-coding gene	gene with protein product	"""synaptotagmin 5"""	600782				9177789	Standard	XM_006723338		Approved		uc002qjn.1	O00445	OTTHUMG00000180669	ENST00000354308.3:c.664C>A	19.37:g.55686584G>T	ENSP00000346265:p.Pro222Thr					SYT5_uc002qjp.2_Missense_Mutation_p.P219T|SYT5_uc002qjn.1_Missense_Mutation_p.P222T|SYT5_uc002qjo.1_Missense_Mutation_p.P222T	p.P222T	NM_003180	NP_003171	O00445	SYT5_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	5	1724	-			222			Cytoplasmic (Potential).		B3KWJ8|B7Z300|Q86X72	Missense_Mutation	SNP	ENST00000354308.3	37	c.664C>A	CCDS12919.1	.	.	.	.	.	.	.	.	.	.	G	6.139	0.393844	0.11638	.	.	ENSG00000129990	ENST00000537500;ENST00000354308;ENST00000543844	T;T	0.07688	3.17;3.17	4.34	4.34	0.51931	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.113064	0.64402	D	0.000010	T	0.04182	0.0116	N	0.20328	0.56	0.36885	D	0.889605	B;P;B	0.52692	0.005;0.955;0.019	B;B;B	0.34931	0.002;0.192;0.007	T	0.51639	-0.8680	10	0.13470	T	0.59	.	11.789	0.52059	0.0:0.296:0.704:0.0	.	219;222;222	B7Z300;Q4FD32;O00445	.;.;SYT5_HUMAN	T	222;222;219	ENSP00000442896:P222T;ENSP00000346265:P222T	ENSP00000346265:P222T	P	-	1	0	SYT5	60378396	0.012000	0.17670	0.987000	0.45799	0.905000	0.53344	0.983000	0.29552	2.362000	0.80069	0.555000	0.69702	CCA		0.716	SYT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452501.1	NM_003180		12	6	1	0	9.31168e-06	0.001855	1.10067e-05	12	6				
PTPRH	5794	broad.mit.edu	37	19	55693137	55693137	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:55693137G>T	ENST00000376350.3	-	20	3355	c.3333C>A	c.(3331-3333)caC>caA	p.H1111Q	SYT5_ENST00000590851.1_5'Flank|PTPRH_ENST00000263434.5_Missense_Mutation_p.H933Q|SYT5_ENST00000537500.1_5'Flank|SYT5_ENST00000354308.3_5'Flank	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	1111					apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.H1111Q(1)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CCTCCAACTTGTGGGCCTGGA	0.607																																							uc002qjq.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(2)|large_intestine(1)|skin(1)	4						c.(3331-3333)CAC>CAA		protein tyrosine phosphatase, receptor type, H							119.0	120.0	120.0					19																	55693137		2203	4300	6503	SO:0001583	missense	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55693137G>T		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.3333C>A	19.37:g.55693137G>T	ENSP00000365528:p.His1111Gln					PTPRH_uc010esv.2_Missense_Mutation_p.H933Q|SYT5_uc002qjm.1_5'Flank|SYT5_uc002qjp.2_5'Flank|SYT5_uc002qjn.1_5'Flank|SYT5_uc002qjo.1_5'Flank	p.H1111Q	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	20	3406	-		Renal(1328;0.245)	1111			Cytoplasmic (Potential).		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	c.3333C>A	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	G	8.069	0.769816	0.15983	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.05786	3.39;4.38	3.44	-6.88	0.01665	.	1.692720	0.04203	N	0.330438	T	0.03651	0.0104	N	0.19112	0.55	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.003	T	0.42481	-0.9449	10	0.14656	T	0.56	.	7.5525	0.27806	0.3175:0.468:0.2145:0.0	.	933;1111	C9JCH2;Q9HD43	.;PTPRH_HUMAN	Q	1111;933	ENSP00000365528:H1111Q;ENSP00000263434:H933Q	ENSP00000263434:H933Q	H	-	3	2	PTPRH	60384949	.	.	0.000000	0.03702	0.033000	0.12548	.	.	-1.536000	0.01738	-0.219000	0.12488	CAC		0.607	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			75	48	1	0	4.38691e-48	0.00361	8.13383e-48	75	48				
RPL28	6158	broad.mit.edu	37	19	55899329	55899329	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:55899329G>T	ENST00000344063.2	+	4	866	c.237G>T	c.(235-237)cgG>cgT	p.R79R	RPL28_ENST00000458349.2_Silent_p.R79R|RPL28_ENST00000558815.1_Silent_p.R79R|RPL28_ENST00000560583.1_Silent_p.R79R|RPL28_ENST00000560055.1_Silent_p.R79R|RPL28_ENST00000559463.1_Silent_p.R79R|RPL28_ENST00000558131.1_Missense_Mutation_p.G73V			P46779	RL28_HUMAN	ribosomal protein L28	79					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6	Breast(117;0.191)	Renal(1328;0.245)	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		CCTATGTGCGGACCACCATCA	0.612																																							uc002qkv.2		NA																	0					0						c.(235-237)CGG>CGT		ribosomal protein L28 isoform 2							88.0	86.0	86.0					19																	55899329		2203	4300	6503	SO:0001819	synonymous_variant	6158				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr19:55899329G>T	U14969	CCDS12924.1, CCDS46189.1, CCDS46190.1, CCDS46191.1, CCDS46192.1	19q13.4	2011-04-06				ENSG00000108107		"""L ribosomal proteins"""	10330	protein-coding gene	gene with protein product	"""60S ribosomal protein L28"""	603638				7772601, 9582194	Standard	NM_001136134		Approved	FLJ43307, L28	uc010yga.2	P46779		ENST00000344063.2:c.237G>T	19.37:g.55899329G>T						RPL28_uc010yga.1_Silent_p.R79R|RPL28_uc010ygb.1_Silent_p.R79R|RPL28_uc002qkw.1_3'UTR	p.R79R	NM_000991	NP_000982	P46779	RL28_HUMAN	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)	4	279	+	Breast(117;0.191)	Renal(1328;0.245)	79					B2R4A6|B4DEP9|C9JB50|E9PB24|G5E9L2|Q6IAY0|Q96FX1|Q9BWQ0	Silent	SNP	ENST00000344063.2	37	c.237G>T	CCDS12924.1																																																																																				0.612	RPL28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416277.2	NM_000991		77	61	1	0	1.67174e-50	0.00361	3.11514e-50	77	61				
NLRP11	204801	broad.mit.edu	37	19	56320389	56320389	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:56320389C>T	ENST00000589093.1	-	3	1680	c.1587G>A	c.(1585-1587)atG>atA	p.M529I	NLRP11_ENST00000592953.1_Missense_Mutation_p.M430I|NLRP11_ENST00000443188.1_Missense_Mutation_p.M529I|NLRP11_ENST00000360133.3_Missense_Mutation_p.M529I|NLRP11_ENST00000589824.2_Missense_Mutation_p.M529I			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	529							ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CCAAATGTTTCATGTATCCCA	0.438																																							uc010ygf.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(1585-1587)ATG>ATA		NLR family, pyrin domain containing 11							158.0	149.0	152.0					19																	56320389		2203	4300	6503	SO:0001583	missense	204801						ATP binding	g.chr19:56320389C>T	AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.1587G>A	19.37:g.56320389C>T	ENSP00000466285:p.Met529Ile					NLRP11_uc002qlz.2_Missense_Mutation_p.M430I|NLRP11_uc002qmb.2_Missense_Mutation_p.M430I|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA	p.M529I	NM_145007	NP_659444	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	5	2298	-		Colorectal(82;0.0002)	529					C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	37	c.1587G>A	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	C	4.609	0.113130	0.08831	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.72942	-0.7;-0.64	1.99	1.99	0.26369	.	.	.	.	.	T	0.56171	0.1967	L	0.36672	1.1	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.002;0.004	T	0.40213	-0.9575	9	0.25751	T	0.34	.	7.5186	0.27614	0.0:1.0:0.0:0.0	.	529;529	P59045;P59045-2	NAL11_HUMAN;.	I	529	ENSP00000409898:M529I;ENSP00000353251:M529I	ENSP00000353251:M529I	M	-	3	0	NLRP11	61012201	0.001000	0.12720	0.002000	0.10522	0.002000	0.02628	0.338000	0.19858	1.433000	0.47394	0.650000	0.86243	ATG		0.438	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		71	55	0	0	0	0.00361	0	71	55				
NLRP8	126205	broad.mit.edu	37	19	56467463	56467463	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:56467463C>A	ENST00000291971.3	+	3	2110	c.2039C>A	c.(2038-2040)tCt>tAt	p.S680Y	NLRP8_ENST00000590542.1_Missense_Mutation_p.S680Y	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	680					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CATCCTGGCTCTGAGTAAGTG	0.547																																							uc002qmh.2		NA																	0				ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13						c.(2038-2040)TCT>TAT		NLR family, pyrin domain containing 8							93.0	88.0	90.0					19																	56467463		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56467463C>A	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.2039C>A	19.37:g.56467463C>A	ENSP00000291971:p.Ser680Tyr					NLRP8_uc010etg.2_Missense_Mutation_p.S680Y	p.S680Y	NM_176811	NP_789781	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	3	2110	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	680					Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.2039C>A	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.987155	0.35036	.	.	ENSG00000179709	ENST00000291971	D	0.88431	-2.38	1.86	1.86	0.25419	.	.	.	.	.	T	0.81083	0.4749	L	0.36672	1.1	0.09310	N	1	B;B	0.27068	0.035;0.167	B;B	0.26517	0.011;0.07	T	0.66874	-0.5813	9	0.23891	T	0.37	.	7.2193	0.25977	0.0:1.0:0.0:0.0	.	680;680	Q86W28-2;Q86W28	.;NALP8_HUMAN	Y	680	ENSP00000291971:S680Y	ENSP00000291971:S680Y	S	+	2	0	NLRP8	61159275	0.003000	0.15002	0.001000	0.08648	0.093000	0.18481	2.382000	0.44345	1.332000	0.45431	0.508000	0.49915	TCT		0.547	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		36	32	1	0	1.59361e-14	0.006999	2.43295e-14	36	32				
NLRP5	126206	broad.mit.edu	37	19	56538657	56538657	+	Missense_Mutation	SNP	G	G	T	rs200105264	byFrequency	TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:56538657G>T	ENST00000390649.3	+	7	1058	c.1058G>T	c.(1057-1059)cGa>cTa	p.R353L		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	353	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		ATCATGTCCCGACCAGAAAGG	0.547																																							uc002qmj.2		NA																	0				ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7						c.(1057-1059)CGA>CTA		NACHT, LRR and PYD containing protein 5							43.0	43.0	43.0					19																	56538657		2053	4207	6260	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56538657G>T	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.1058G>T	19.37:g.56538657G>T	ENSP00000375063:p.Arg353Leu					NLRP5_uc002qmi.2_Missense_Mutation_p.R334L	p.R353L	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	7	1058	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	353			NACHT.		A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.1058G>T	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.156613	0.38119	.	.	ENSG00000171487	ENST00000390649	D	0.81739	-1.53	3.35	1.1	0.20463	NACHT nucleoside triphosphatase (1);	0.561653	0.13782	N	0.363135	T	0.72195	0.3430	N	0.17474	0.49	0.09310	N	0.999999	P	0.40794	0.729	P	0.50231	0.635	T	0.62558	-0.6829	10	0.72032	D	0.01	.	4.9506	0.14011	0.7315:0.0:0.2685:0.0	.	353	P59047	NALP5_HUMAN	L	353	ENSP00000375063:R353L	ENSP00000375063:R353L	R	+	2	0	NLRP5	61230469	0.000000	0.05858	0.125000	0.21846	0.023000	0.10783	-0.132000	0.10467	0.194000	0.20326	-0.290000	0.09829	CGA		0.547	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		6	12	1	0	5.9392e-07	0.001168	7.35353e-07	6	12				
ZSCAN5B	342933	broad.mit.edu	37	19	56704301	56704301	+	Nonsense_Mutation	SNP	C	C	A	rs377038668		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:56704301C>A	ENST00000586855.2	-	2	434	c.121G>T	c.(121-123)Gag>Tag	p.E41*	ZSCAN5B_ENST00000358992.3_Nonsense_Mutation_p.E41*			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	41					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TGCCAAGTCTCAGGGTTCCTG	0.572																																							uc010ygh.1		NA																	0				ovary(1)|skin(1)	2						c.(121-123)GAG>TAG		zinc finger and SCAN domain containing 5B							44.0	43.0	43.0					19																	56704301		2203	4300	6503	SO:0001587	stop_gained	342933				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56704301C>A		CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"""-"", ""Zinc fingers, C2H2-type"""	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.121G>T	19.37:g.56704301C>A	ENSP00000466072:p.Glu41*						p.E41*	NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN			1	121	-			41						Nonsense_Mutation	SNP	ENST00000586855.2	37	c.121G>T	CCDS46203.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.992417	0.54041	.	.	ENSG00000197213	ENST00000358992	.	.	.	2.48	2.48	0.30137	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.5319	0.33340	0.0:1.0:0.0:0.0	.	.	.	.	X	41	.	ENSP00000351883:E41X	E	-	1	0	ZSCAN5B	61396113	0.182000	0.23173	0.008000	0.14137	0.104000	0.19210	0.850000	0.27737	1.696000	0.51158	0.313000	0.20887	GAG		0.572	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457834.2	NM_001080456		14	6	1	0	4.36969e-10	0.001855	6.03318e-10	14	6				
ZNF583	147949	broad.mit.edu	37	19	56935118	56935118	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:56935118G>T	ENST00000333201.9	+	5	1301	c.1091G>T	c.(1090-1092)cGt>cTt	p.R364L	ZNF583_ENST00000291598.7_Missense_Mutation_p.R364L|ZNF583_ENST00000585612.1_3'UTR	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	364					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(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		TTTAGCCATCGTGGATACCTA	0.423																																							uc010ygl.1		NA																	0				ovary(1)	1						c.(1090-1092)CGT>CTT		zinc finger protein 583							117.0	119.0	118.0					19																	56935118		2203	4300	6503	SO:0001583	missense	147949				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56935118G>T	AK055592	CCDS12943.1	19q13.43	2013-09-20			ENSG00000198440	ENSG00000198440		"""Zinc fingers, C2H2-type"", ""-"""	26427	protein-coding gene	gene with protein product							Standard	NM_152478		Approved	FLJ31030	uc010ygl.1	Q96ND8	OTTHUMG00000168874	ENST00000333201.9:c.1091G>T	19.37:g.56935118G>T	ENSP00000388502:p.Arg364Leu					ZNF583_uc002qnc.2_Missense_Mutation_p.R364L|ZNF583_uc010ygm.1_Missense_Mutation_p.R364L	p.R364L	NM_001159860	NP_001153332	Q96ND8	ZN583_HUMAN		GBM - Glioblastoma multiforme(193;0.0564)	5	1256	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	364			C2H2-type 6.		O14850|Q2NKK3	Missense_Mutation	SNP	ENST00000333201.9	37	c.1091G>T	CCDS12943.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.180908	0.38511	.	.	ENSG00000198440	ENST00000291598;ENST00000333201	T;T	0.08282	3.11;3.11	3.96	2.89	0.33648	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45361	D	0.000373	T	0.09069	0.0224	N	0.17082	0.46	0.09310	N	1	D	0.69078	0.997	P	0.60886	0.88	T	0.16867	-1.0388	9	.	.	.	.	3.5396	0.07806	0.1963:0.0:0.591:0.2127	.	364	Q96ND8	ZN583_HUMAN	L	364	ENSP00000291598:R364L;ENSP00000388502:R364L	.	R	+	2	0	ZNF583	61626930	0.001000	0.12720	0.001000	0.08648	0.918000	0.54935	0.000000	0.12993	0.972000	0.38314	0.462000	0.41574	CGT		0.423	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401453.1	NM_152478		47	30	1	0	1.83081e-24	0.00361	3.16559e-24	47	30				
PEG3	5178	broad.mit.edu	37	19	57327159	57327159	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:57327159C>A	ENST00000326441.9	-	10	3014	c.2651G>T	c.(2650-2652)gGg>gTg	p.G884V	PEG3_ENST00000598410.1_Missense_Mutation_p.G760V|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.G884V|PEG3_ENST00000593695.1_Missense_Mutation_p.G758V|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	884					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CTTACTGCCCCCTTCACAAGG	0.443																																							uc002qnu.2		NA																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(2650-2652)GGG>GTG		paternally expressed 3 isoform 1							91.0	91.0	91.0					19																	57327159		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57327159C>A	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2651G>T	19.37:g.57327159C>A	ENSP00000326581:p.Gly884Val					ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.G855V|PEG3_uc002qnv.2_Missense_Mutation_p.G884V|PEG3_uc002qnw.2_Missense_Mutation_p.G760V|PEG3_uc002qnx.2_Missense_Mutation_p.G758V|PEG3_uc010etr.2_Missense_Mutation_p.G884V	p.G884V	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	3002	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	884					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.2651G>T	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	10.44	1.350504	0.24512	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.03496	3.91;3.91	4.0	-1.11	0.09840	.	0.908690	0.09224	N	0.831481	T	0.04724	0.0128	L	0.55990	1.75	.	.	.	B;B;B	0.28026	0.025;0.103;0.198	B;B;B	0.24848	0.008;0.02;0.056	T	0.26155	-1.0111	9	0.59425	D	0.04	-10.0143	8.1791	0.31300	0.439:0.4183:0.1427:0.0	.	760;884;819	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	V	884	ENSP00000326581:G884V;ENSP00000403051:G884V	ENSP00000326581:G884V	G	-	2	0	ZIM2	62018971	0.000000	0.05858	0.002000	0.10522	0.784000	0.44337	-0.132000	0.10467	-0.044000	0.13491	0.591000	0.81541	GGG		0.443	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			37	27	1	0	9.62906e-15	0.00623	1.47612e-14	37	27				
ZNF304	57343	broad.mit.edu	37	19	57865133	57865133	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:57865133G>T	ENST00000282286.5	+	2	247	c.74G>T	c.(73-75)cGg>cTg	p.R25L	ZNF304_ENST00000598744.1_5'UTR|CTC-444N24.13_ENST00000597973.1_RNA|ZNF304_ENST00000443917.2_Missense_Mutation_p.R25L|ZNF304_ENST00000391705.3_Missense_Mutation_p.R25L			Q9HCX3	ZN304_HUMAN	zinc finger protein 304	25	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		TACTTCTCTCGGGAGGAGTGG	0.517																																							uc010ygw.1		NA																	0				ovary(1)	1						c.(73-75)CGG>CTG		zinc finger protein 304							251.0	189.0	210.0					19																	57865133		2203	4300	6503	SO:0001583	missense	57343				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57865133G>T	AJ276316	CCDS12950.1, CCDS74462.1	19q13.4	2013-01-08				ENSG00000131845		"""Zinc fingers, C2H2-type"", ""-"""	13505	protein-coding gene	gene with protein product		613840					Standard	XM_005259090		Approved		uc010ygw.2	Q9HCX3		ENST00000282286.5:c.74G>T	19.37:g.57865133G>T	ENSP00000282286:p.Arg25Leu					ZNF304_uc010etw.2_Missense_Mutation_p.R25L|ZNF304_uc010etx.2_5'UTR	p.R25L	NM_020657	NP_065708	Q9HCX3	ZN304_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)	2	462	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	25			KRAB.			Missense_Mutation	SNP	ENST00000282286.5	37	c.74G>T	CCDS12950.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.980333	0.34942	.	.	ENSG00000131845	ENST00000282286;ENST00000391705;ENST00000443917	T;T;T	0.01838	4.61;4.61;4.61	3.21	-1.67	0.08238	Krueppel-associated box (4);	.	.	.	.	T	0.01523	0.0049	N	0.25380	0.74	0.21861	N	0.999506	P;P	0.39665	0.546;0.682	B;B	0.33799	0.17;0.17	T	0.46442	-0.9191	9	0.51188	T	0.08	.	4.3534	0.11167	0.3398:0.372:0.2882:0.0	.	25;25	Q9HCX3;E7EQD3	ZN304_HUMAN;.	L	25	ENSP00000282286:R25L;ENSP00000375586:R25L;ENSP00000401642:R25L	ENSP00000282286:R25L	R	+	2	0	ZNF304	62556945	0.001000	0.12720	0.843000	0.33291	0.958000	0.62258	-1.380000	0.02551	-0.204000	0.10235	-0.251000	0.11542	CGG		0.517	ZNF304-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465785.1			42	49	1	0	1.48734e-19	0.003214	2.45468e-19	42	49				
TMEM18	129787	broad.mit.edu	37	2	675580	675580	+	Silent	SNP	C	C	A	rs200299156		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:675580C>A	ENST00000281017.3	-	2	201	c.108G>T	c.(106-108)gcG>gcT	p.A36A	AC092159.2_ENST00000445418.1_RNA|TMEM18_ENST00000355654.2_Silent_p.A23A|TMEM18_ENST00000405941.3_Silent_p.A39A	NM_152834.2	NP_690047.2	Q96B42	TMM18_HUMAN	transmembrane protein 18	36					cell migration (GO:0016477)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(1)|lung(7)|ovary(1)	10	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)		GCACGCAGAGCGCGTGGAAGG	0.577																																							uc002qwl.2		NA																	0				ovary(1)	1						c.(106-108)GCG>GCT		transmembrane protein 18							128.0	110.0	116.0					2																	675580		2203	4300	6503	SO:0001819	synonymous_variant	129787				cell migration	integral to membrane|nuclear membrane		g.chr2:675580C>A	AL137269	CCDS33141.1	2p25.3	2008-02-05			ENSG00000151353	ENSG00000151353			25257	protein-coding gene	gene with protein product		613220				12477932	Standard	NM_152834		Approved	DKFZp434C1714	uc002qwl.3	Q96B42	OTTHUMG00000151381	ENST00000281017.3:c.108G>T	2.37:g.675580C>A						TMEM18_uc002qwk.2_RNA|uc002qwm.1_5'Flank	p.A36A	NM_152834	NP_690047	Q96B42	TMM18_HUMAN		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)	2	202	-	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)	36			Helical; (Potential).		D6W4X9|Q8N5H2|Q9NTH3	Silent	SNP	ENST00000281017.3	37	c.108G>T	CCDS33141.1																																																																																				0.577	TMEM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322427.1	NM_152834		25	34	1	0	8.58068e-18	0.007291	1.39296e-17	25	34				
TPO	7173	broad.mit.edu	37	2	1426896	1426896	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:1426896G>A	ENST00000345913.4	+	3	265	c.174G>A	c.(172-174)atG>atA	p.M58I	TPO_ENST00000497517.2_Intron|TPO_ENST00000382201.3_Missense_Mutation_p.M58I|TPO_ENST00000346956.3_Missense_Mutation_p.M58I|TPO_ENST00000349624.3_Missense_Mutation_p.M58I|TPO_ENST00000337415.3_Missense_Mutation_p.M58I|TPO_ENST00000539820.1_Missense_Mutation_p.M58I|TPO_ENST00000382269.3_Missense_Mutation_p.M58I|TPO_ENST00000382198.1_Missense_Mutation_p.M58I|TPO_ENST00000329066.4_Missense_Mutation_p.M58I	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	58					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	ACGCCACGATGCAGAGGTGAG	0.597																																							uc002qww.2		NA																	0				ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20						c.(172-174)ATG>ATA		thyroid peroxidase isoform a	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						69.0	60.0	63.0					2																	1426896		2203	4300	6503	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1426896G>A		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.174G>A	2.37:g.1426896G>A	ENSP00000318820:p.Met58Ile					TPO_uc010ewj.2_Intron|TPO_uc010yin.1_Missense_Mutation_p.M58I|TPO_uc002qwu.2_Missense_Mutation_p.M58I|TPO_uc002qwr.2_Missense_Mutation_p.M58I|TPO_uc002qwx.2_Missense_Mutation_p.M58I|TPO_uc010yio.1_Missense_Mutation_p.M58I|TPO_uc010yip.1_Missense_Mutation_p.M58I	p.M58I	NM_000547	NP_000538	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	3	265	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	58			Extracellular (Potential).		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.174G>A	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.437747	0.25900	.	.	ENSG00000115705	ENST00000382269;ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000539820;ENST00000329066;ENST00000382201;ENST00000423320;ENST00000382198	T;T;T;T;T;T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44	3.72	3.72	0.42706	.	0.282519	0.34652	N	0.003786	T	0.40909	0.1136	L	0.50919	1.6	0.09310	N	1	B;B;B;B;B	0.33807	0.008;0.426;0.264;0.008;0.006	B;B;B;B;B	0.25405	0.007;0.06;0.033;0.007;0.004	T	0.30563	-0.9974	10	0.29301	T	0.29	-29.3298	11.2868	0.49226	0.0:0.0:1.0:0.0	.	58;58;58;58;58	P07202-4;P07202-5;E9PFM6;P07202-2;P07202	.;.;.;.;PERT_HUMAN	I	58	ENSP00000371704:M58I;ENSP00000337263:M58I;ENSP00000318820:M58I;ENSP00000263886:M58I;ENSP00000332044:M58I;ENSP00000444840:M58I;ENSP00000329869:M58I;ENSP00000371636:M58I;ENSP00000390994:M58I;ENSP00000371633:M58I	ENSP00000329869:M58I	M	+	3	0	TPO	1405903	0.251000	0.23961	0.039000	0.18376	0.038000	0.13279	1.497000	0.35649	2.347000	0.79759	0.467000	0.42956	ATG		0.597	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		7	21	0	0	0	0.004482	0	7	21				
KIDINS220	57498	broad.mit.edu	37	2	8870855	8870855	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:8870855G>C	ENST00000256707.3	-	30	5492	c.5311C>G	c.(5311-5313)Ctt>Gtt	p.L1771V	KIDINS220_ENST00000473731.1_Missense_Mutation_p.L1752V|KIDINS220_ENST00000418530.1_Missense_Mutation_p.L1672V|KIDINS220_ENST00000427284.1_Missense_Mutation_p.L1752V	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1771	Mediates interaction with SNTA1. {ECO:0000250}.				activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TTTTCTCAAAGAATGCTTTCT	0.448																																							uc002qzc.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(5311-5313)CTT>GTT		kinase D-interacting substrate of 220 kDa							66.0	63.0	64.0					2																	8870855		1899	4126	6025	SO:0001583	missense	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8870855G>C	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.5311C>G	2.37:g.8870855G>C	ENSP00000256707:p.Leu1771Val					KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Missense_Mutation_p.L1672V|KIDINS220_uc002qzb.2_Missense_Mutation_p.L625V	p.L1771V	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN			30	5493	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1771			Mediates interaction with SNTA1 (By similarity).|Cytoplasmic (Potential).		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	ENST00000256707.3	37	c.5311C>G	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.085928	0.55861	.	.	ENSG00000134313	ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731	T;T;T;T	0.75821	-0.94;-0.97;-0.97;-0.97	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.81772	0.4893	L	0.36672	1.1	0.38827	D	0.955764	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.83275	0.995;0.996;0.995	D	0.84023	0.0355	10	0.87932	D	0	.	18.0595	0.89372	0.0:0.0:1.0:0.0	.	1672;1771;625	Q9ULH0-2;Q9ULH0;B4DG84	.;KDIS_HUMAN;.	V	1771;1752;1672;1752	ENSP00000256707:L1771V;ENSP00000411849:L1752V;ENSP00000414923:L1672V;ENSP00000418974:L1752V	ENSP00000256707:L1771V	L	-	1	0	KIDINS220	8788306	1.000000	0.71417	0.922000	0.36590	0.615000	0.37417	6.874000	0.75546	2.695000	0.91970	0.655000	0.94253	CTT		0.448	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		10	28	0	0	0	0.008291	0	10	28				
KCNF1	3754	broad.mit.edu	37	2	11053234	11053234	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:11053234G>T	ENST00000295082.1	+	1	1172	c.682G>T	c.(682-684)Gcg>Tcg	p.A228S		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	228					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CGTGGAGACGGCGTGCATTGG	0.627																																							uc002rax.2		NA																	0				ovary(1)	1						c.(682-684)GCG>TCG		potassium voltage-gated channel, subfamily F,							72.0	69.0	70.0					2																	11053234		2203	4300	6503	SO:0001583	missense	3754					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr2:11053234G>T	AF033382	CCDS1676.1	2p25	2011-07-05			ENSG00000162975	ENSG00000162975		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6246	protein-coding gene	gene with protein product		603787		KCNF		9434767, 16382104	Standard	NM_002236		Approved	Kv5.1, kH1, IK8	uc002rax.3	Q9H3M0	OTTHUMG00000119054	ENST00000295082.1:c.682G>T	2.37:g.11053234G>T	ENSP00000295082:p.Ala228Ser						p.A228S	NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)	1	1172	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		228			Helical; Name=Segment S2; (Potential).		O43527|Q585L3	Missense_Mutation	SNP	ENST00000295082.1	37	c.682G>T	CCDS1676.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.116184	0.56505	.	.	ENSG00000162975	ENST00000295082	D	0.98550	-4.99	5.21	4.33	0.51752	Ion transport (1);	0.172231	0.51477	D	0.000100	D	0.97136	0.9064	L	0.48642	1.525	0.44337	D	0.997226	P	0.46064	0.872	P	0.47744	0.556	D	0.96923	0.9675	10	0.62326	D	0.03	.	13.9916	0.64369	0.0732:0.0:0.9268:0.0	.	228	Q9H3M0	KCNF1_HUMAN	S	228	ENSP00000295082:A228S	ENSP00000295082:A228S	A	+	1	0	KCNF1	10970685	1.000000	0.71417	0.994000	0.49952	0.954000	0.61252	6.583000	0.74053	1.315000	0.45114	0.655000	0.94253	GCG		0.627	KCNF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239265.1	NM_002236		19	46	1	0	1.15919e-05	0.008871	1.35939e-05	19	46				
TRIB2	28951	broad.mit.edu	37	2	12880753	12880753	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:12880753C>G	ENST00000155926.4	+	3	2284	c.865C>G	c.(865-867)Ctg>Gtg	p.L289V	TRIB2_ENST00000381465.2_Missense_Mutation_p.L153V	NM_021643.3	NP_067675.1			tribbles pseudokinase 2											breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCGAAGCATTCTGCGTCGGGA	0.532																																							uc002rbv.3		NA																	0				stomach(1)	1						c.(865-867)CTG>GTG		tribbles homolog 2							58.0	52.0	54.0					2																	12880753		2203	4300	6503	SO:0001583	missense	28951				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	g.chr2:12880753C>G	AY245544	CCDS1683.1	2p25.1	2013-10-03	2013-10-03		ENSG00000071575	ENSG00000071575			30809	protein-coding gene	gene with protein product		609462	"""tribbles homolog 2 (Drosophila)"""			12736262, 17097562, 16715410	Standard	NM_021643		Approved	TRB2, GS3955	uc002rbv.4	Q92519	OTTHUMG00000090575	ENST00000155926.4:c.865C>G	2.37:g.12880753C>G	ENSP00000155926:p.Leu289Val					TRIB2_uc010yjp.1_Missense_Mutation_p.L153V	p.L289V	NM_021643	NP_067675	Q92519	TRIB2_HUMAN			3	2301	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		289			Protein kinase.			Missense_Mutation	SNP	ENST00000155926.4	37	c.865C>G	CCDS1683.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.330425	0.60743	.	.	ENSG00000071575	ENST00000155926;ENST00000381465	D;D	0.81579	-1.51;-1.51	5.94	5.07	0.68467	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.91418	0.7292	H	0.96889	3.9	0.80722	D	1	P	0.48350	0.909	P	0.55222	0.771	D	0.93768	0.7072	10	0.87932	D	0	-16.8554	14.1556	0.65415	0.0:0.9284:0.0:0.0716	.	289	Q92519	TRIB2_HUMAN	V	289;153	ENSP00000155926:L289V;ENSP00000370874:L153V	ENSP00000155926:L289V	L	+	1	2	TRIB2	12798204	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.296000	0.51802	1.517000	0.48917	0.650000	0.86243	CTG		0.532	TRIB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207114.2	NM_021643		21	21	0	0	0	0.003954	0	21	21				
NBAS	51594	broad.mit.edu	37	2	15644305	15644305	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:15644305T>A	ENST00000281513.5	-	11	943	c.918A>T	c.(916-918)ttA>ttT	p.L306F	NBAS_ENST00000441750.1_Missense_Mutation_p.L306F	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	306					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ACTTGACACTTAACATCCTTA	0.368																																							uc002rcc.1		NA																	0				ovary(2)|liver(1)|skin(1)	4						c.(916-918)TTA>TTT		neuroblastoma-amplified protein							182.0	157.0	165.0					2																	15644305		2203	4300	6503	SO:0001583	missense	51594							g.chr2:15644305T>A	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.918A>T	2.37:g.15644305T>A	ENSP00000281513:p.Leu306Phe					NBAS_uc002rcd.1_RNA	p.L306F	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN			11	944	-			306					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.918A>T	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	T	13.98	2.399770	0.42512	.	.	ENSG00000151779	ENST00000441750;ENST00000281513	T;T	0.47869	0.83;0.83	5.47	-0.137	0.13469	WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);	0.229124	0.37577	N	0.002031	T	0.28863	0.0716	L	0.34521	1.04	0.20307	N	0.999912	B	0.25609	0.13	B	0.21360	0.034	T	0.18147	-1.0346	10	0.87932	D	0	.	3.8487	0.08945	0.1859:0.4457:0.0:0.3683	.	306	A2RRP1	NBAS_HUMAN	F	306	ENSP00000413201:L306F;ENSP00000281513:L306F	ENSP00000281513:L306F	L	-	3	2	NBAS	15561756	1.000000	0.71417	0.173000	0.22940	0.895000	0.52256	0.637000	0.24659	0.375000	0.24679	0.533000	0.62120	TTA		0.368	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		18	54	0	0	0	0.010504	0	18	54				
APOB	338	broad.mit.edu	37	2	21233628	21233628	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:21233628C>T	ENST00000233242.1	-	26	6239	c.6112G>A	c.(6112-6114)Gat>Aat	p.D2038N		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2038					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTAAAGCATCAATGATATTG	0.408																																							uc002red.2		NA																	0				ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(6112-6114)GAT>AAT		apolipoprotein B precursor	Atorvastatin(DB01076)						109.0	113.0	112.0					2																	21233628		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21233628C>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.6112G>A	2.37:g.21233628C>T	ENSP00000233242:p.Asp2038Asn						p.D2038N	NM_000384	NP_000375	P04114	APOB_HUMAN			26	6240	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2038					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.6112G>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.257945	0.39896	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00986	5.47	5.32	3.5	0.40072	.	0.140113	0.33290	N	0.005080	T	0.01061	0.0035	L	0.33245	0.995	0.28238	N	0.925813	B	0.24882	0.113	B	0.25506	0.061	T	0.40572	-0.9556	10	0.41790	T	0.15	.	10.5877	0.45292	0.0:0.8398:0.0:0.1602	.	2038	P04114	APOB_HUMAN	N	2038	ENSP00000233242:D2038N	ENSP00000233242:D2038N	D	-	1	0	APOB	21087133	0.430000	0.25538	0.008000	0.14137	0.884000	0.51177	1.430000	0.34914	0.603000	0.29913	0.561000	0.74099	GAT		0.408	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			36	70	0	0	0	0.007835	0	36	70				
UBXN2A	165324	broad.mit.edu	37	2	24222692	24222692	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:24222692G>C	ENST00000309033.4	+	7	979	c.735G>C	c.(733-735)caG>caC	p.Q245H	RN7SL610P_ENST00000463845.2_RNA|UBXN2A_ENST00000404924.1_Missense_Mutation_p.Q245H|UBXN2A_ENST00000535786.1_Missense_Mutation_p.Q192H|UBXN2A_ENST00000446425.2_3'UTR	NM_181713.3	NP_859064.2	P68543	UBX2A_HUMAN	UBX domain protein 2A	245	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.				regulation of gene expression (GO:0010468)|regulation of protein catabolic process (GO:0042176)|regulation of protein ubiquitination (GO:0031396)	cis-Golgi network (GO:0005801)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)				endometrium(1)|large_intestine(3)|liver(1)|lung(6)	11						TCATCATTCAGAGACTCCAAA	0.418																																							uc010exy.2		NA																	0					0						c.(733-735)CAG>CAC		UBX domain containing 4							84.0	88.0	87.0					2																	24222692		2203	4300	6503	SO:0001583	missense	165324							g.chr2:24222692G>C	BC037901	CCDS1704.1	2p24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000173960	ENSG00000173960		"""UBX domain containing"""	27265	protein-coding gene	gene with protein product			"""UBX domain containing 4"""	UBXD4		12477932	Standard	NM_181713		Approved		uc002ren.3	P68543	OTTHUMG00000125497	ENST00000309033.4:c.735G>C	2.37:g.24222692G>C	ENSP00000312107:p.Gln245His					UBXN2A_uc002rem.2_RNA|UBXN2A_uc002ren.2_Missense_Mutation_p.Q245H|UBXN2A_uc010ykj.1_Missense_Mutation_p.Q192H	p.Q245H	NM_181713	NP_859064	P68543	UBX2A_HUMAN			8	1203	+			245			UBX.		A8K577|B7ZKP8|Q569G8	Missense_Mutation	SNP	ENST00000309033.4	37	c.735G>C	CCDS1704.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.317959	0.60524	.	.	ENSG00000173960	ENST00000404924;ENST00000309033;ENST00000535786	T;T;T	0.43688	0.94;0.94;0.94	4.99	3.16	0.36331	UBX (3);	0.000000	0.85682	D	0.000000	T	0.68815	0.3042	M	0.92077	3.27	0.44643	D	0.997621	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	T	0.73107	-0.4087	10	0.87932	D	0	2.9981	9.8233	0.40896	0.1703:0.0:0.8297:0.0	.	192;245	B7ZKP8;P68543	.;UBX2A_HUMAN	H	245;245;192	ENSP00000385525:Q245H;ENSP00000312107:Q245H;ENSP00000440533:Q192H	ENSP00000312107:Q245H	Q	+	3	2	UBXN2A	24076196	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.671000	0.37513	0.754000	0.32968	0.561000	0.74099	CAG		0.418	UBXN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246824.2	NM_181713		30	39	0	0	0	0.002445	0	30	39				
MFSD2B	388931	broad.mit.edu	37	2	24239823	24239823	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:24239823C>G	ENST00000406420.3	+	4	472	c.456C>G	c.(454-456)ttC>ttG	p.F152L	MFSD2B_ENST00000338315.4_Missense_Mutation_p.F152L	NM_001080473.1	NP_001073942.1	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	152					transport (GO:0006810)	integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						ACTGCCTGTTCCAGGCCCTGG	0.647																																							uc002reo.1		NA																	0				ovary(2)	2						c.(454-456)TTC>TTG		major facilitator superfamily domain containing							65.0	69.0	68.0					2																	24239823		2015	4156	6171	SO:0001583	missense	388931				transport	integral to membrane		g.chr2:24239823C>G		CCDS46228.1	2p23.3	2010-05-11			ENSG00000205639	ENSG00000205639			37207	protein-coding gene	gene with protein product						18694395	Standard	NM_001080473		Approved		uc002reo.2	A6NFX1	OTTHUMG00000090819	ENST00000406420.3:c.456C>G	2.37:g.24239823C>G	ENSP00000385527:p.Phe152Leu					MFSD2B_uc010exz.1_RNA	p.F152L	NM_001080473	NP_001073942	A6NFX1	MFS2B_HUMAN			4	470	+			152			Helical; (Potential).		B5MC32	Missense_Mutation	SNP	ENST00000406420.3	37	c.456C>G	CCDS46228.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.688294	0.48097	.	.	ENSG00000205639	ENST00000406420;ENST00000338315	T;T	0.75050	-0.9;-0.9	4.66	3.52	0.40303	Major facilitator superfamily domain, general substrate transporter (1);	0.519982	0.20957	U	0.082630	T	0.72350	0.3449	M	0.74647	2.275	0.47308	D	0.999385	B	0.30664	0.289	B	0.36766	0.232	T	0.71457	-0.4587	10	0.39692	T	0.17	-10.717	7.2143	0.25951	0.0:0.7942:0.0:0.2058	.	152	A6NFX1	MFS2B_HUMAN	L	152	ENSP00000385527:F152L;ENSP00000342501:F152L	ENSP00000342501:F152L	F	+	3	2	MFSD2B	24093327	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	1.744000	0.38268	2.329000	0.79093	0.511000	0.50034	TTC		0.647	MFSD2B-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000324307.1	NM_001080473		26	31	0	0	0	0.002445	0	26	31				
ITSN2	50618	broad.mit.edu	37	2	24516556	24516556	+	Splice_Site	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:24516556C>G	ENST00000355123.4	-	15	2167		c.e15+1		ITSN2_ENST00000361999.3_Splice_Site|ITSN2_ENST00000406921.3_Splice_Site	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2						endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAGAGACTTACCAGGTGTGTT	0.279																																							uc002rfe.2		NA																	0				kidney(2)|ovary(1)|central_nervous_system(1)	4						c.e15+1		intersectin 2 isoform 1							111.0	114.0	113.0					2																	24516556		2202	4290	6492	SO:0001630	splice_region_variant	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24516556C>G	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.1723+1G>C	2.37:g.24516556C>G						ITSN2_uc002rff.2_Splice_Site_p.D575_splice|ITSN2_uc002rfg.2_Splice_Site_p.D575_splice|ITSN2_uc010eyd.2_Splice_Site_p.D600_splice	p.D575_splice	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN			15	1981	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)							O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Splice_Site	SNP	ENST00000355123.4	37	c.1723_splice	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	C	23.3	4.402102	0.83230	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000445614;ENST00000406921;ENST00000412011	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3203	0.98661	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ITSN2	24370060	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.130000	0.71663	2.890000	0.99128	0.585000	0.79938	.		0.279	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277	Intron	5	34	0	0	0	0.000602	0	5	34				
NCOA1	8648	broad.mit.edu	37	2	24933855	24933855	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:24933855C>T	ENST00000406961.1	+	14	3126	c.2474C>T	c.(2473-2475)gCa>gTa	p.A825V	NCOA1_ENST00000395856.3_Missense_Mutation_p.A825V|NCOA1_ENST00000407230.1_Missense_Mutation_p.A674V|NCOA1_ENST00000288599.5_Missense_Mutation_p.A825V|NCOA1_ENST00000348332.3_Missense_Mutation_p.A825V|NCOA1_ENST00000538539.1_Missense_Mutation_p.A825V|NCOA1_ENST00000405141.1_Missense_Mutation_p.A825V			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	825	Interaction with CREBBP.				androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGAAGGCAGCACAGTTGCCA	0.473			T	PAX3	alveolar rhadomyosarcoma																																		uc002rfk.2		NA		Dom	yes		2	2p23	8648	T	nuclear receptor coactivator 1			M	PAX3		alveolar rhadomyosarcoma	PAX3/NCOA1(8)	0				soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11						c.(2473-2475)GCA>GTA		nuclear receptor coactivator 1 isoform 1							112.0	99.0	103.0					2																	24933855		2203	4300	6503	SO:0001583	missense	8648							g.chr2:24933855C>T	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.2474C>T	2.37:g.24933855C>T	ENSP00000385216:p.Ala825Val					NCOA1_uc010eye.2_Missense_Mutation_p.A825V|NCOA1_uc002rfi.2_Missense_Mutation_p.A674V|NCOA1_uc002rfj.2_Missense_Mutation_p.A825V|NCOA1_uc002rfl.2_Missense_Mutation_p.A825V	p.A825V	NM_003743	NP_003734	Q15788	NCOA1_HUMAN			12	2732	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		825			Interaction with CREBBP.		O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	ENST00000406961.1	37	c.2474C>T	CCDS1712.1	.	.	.	.	.	.	.	.	.	.	C	19.70	3.877132	0.72180	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000407230;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	T;T;T;T;T;T;T	0.02015	4.61;4.61;4.5;4.61;4.61;4.61;4.61	6.07	5.19	0.71726	.	0.386455	0.28544	N	0.014968	T	0.01800	0.0057	N	0.08118	0	0.42224	D	0.991866	B;B;B;B	0.26708	0.157;0.097;0.006;0.097	B;B;B;B	0.24848	0.056;0.025;0.023;0.025	T	0.64317	-0.6436	10	0.45353	T	0.12	.	14.4887	0.67634	0.0:0.9296:0.0:0.0704	.	825;825;825;674	Q15788-3;Q15788;Q15788-2;B5MCN7	.;NCOA1_HUMAN;.;.	V	825;825;674;825;825;825;825	ENSP00000385216:A825V;ENSP00000385097:A825V;ENSP00000385195:A674V;ENSP00000444039:A825V;ENSP00000320940:A825V;ENSP00000288599:A825V;ENSP00000379197:A825V	ENSP00000288599:A825V	A	+	2	0	NCOA1	24787359	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.337000	0.52120	2.885000	0.99019	0.655000	0.94253	GCA		0.473	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223		20	60	0	0	0	0.010504	0	20	60				
ADCY3	109	broad.mit.edu	37	2	25061491	25061491	+	Splice_Site	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:25061491C>A	ENST00000260600.5	-	7	2207	c.1356G>T	c.(1354-1356)ggG>ggT	p.G452G	ADCY3_ENST00000405392.1_Splice_Site_p.E85D	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	452					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TGTGCACGCGCCTGGATTGCA	0.647																																							uc002rfs.3		NA																	0				breast(3)|ovary(1)	4						c.(1354-1356)GGG>GGT		adenylate cyclase 3							95.0	95.0	95.0					2																	25061491		2203	4300	6503	SO:0001630	splice_region_variant	109				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	g.chr2:25061491C>A	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.1356-1G>T	2.37:g.25061491C>A						ADCY3_uc002rfr.3_Missense_Mutation_p.E85D|ADCY3_uc010ykm.1_Silent_p.G452G	p.G452G	NM_004036	NP_004027	O60266	ADCY3_HUMAN			7	1555	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		452			Cytoplasmic (Potential).		B3KT86|Q53T54|Q9UDB1	Silent	SNP	ENST00000260600.5	37	c.1356G>T	CCDS1715.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.237713	0.39598	.	.	ENSG00000138031	ENST00000405392	T	0.81330	-1.48	5.41	4.53	0.55603	.	.	.	.	.	T	0.70378	0.3217	.	.	.	0.23946	N	0.99638	B	0.13145	0.007	B	0.19391	0.025	T	0.54207	-0.8328	8	0.19147	T	0.46	.	13.7512	0.62908	0.0:0.9255:0.0:0.0745	.	85	B3KT86	.	D	85	ENSP00000384484:E85D	ENSP00000384484:E85D	E	-	3	2	ADCY3	24914995	1.000000	0.71417	0.999000	0.59377	0.720000	0.41350	1.175000	0.31944	1.280000	0.44463	-0.136000	0.14681	GAG		0.647	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2		Silent	44	76	1	0	5.2432e-18	0.00361	8.53024e-18	44	76				
HADHA	3030	broad.mit.edu	37	2	26426983	26426983	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:26426983T>C	ENST00000380649.3	-	12	1297	c.1168A>G	c.(1168-1170)Aaa>Gaa	p.K390E		NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	390					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGGCATCTTTAAGTATAGTC	0.502																																							uc002rgy.2		NA																	0				ovary(1)	1						c.(1168-1170)AAA>GAA		mitochondrial trifunctional protein, alpha	NADH(DB00157)						377.0	356.0	363.0					2																	26426983		2203	4300	6503	SO:0001583	missense	3030				fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding	g.chr2:26426983T>C	D16480	CCDS1721.1	2p23	2014-09-17	2010-04-30		ENSG00000084754	ENSG00000084754	1.1.1.211, 4.2.1.17		4801	protein-coding gene	gene with protein product	"""gastrin-binding protein"", ""long-chain-3-hydroxyacyl-CoA dehydrogenase"", ""long-chain 2-enoyl-CoA hydratase"", ""mitochondrial trifunctional protein, alpha subunit"""	600890	"""hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit"""			9605857, 7918661	Standard	NM_000182		Approved	GBP, LCEH, LCHAD, MTPA	uc002rgy.3	P40939	OTTHUMG00000096979	ENST00000380649.3:c.1168A>G	2.37:g.26426983T>C	ENSP00000370023:p.Lys390Glu					HADHA_uc010yks.1_Missense_Mutation_p.K303E	p.K390E	NM_000182	NP_000173	P40939	ECHA_HUMAN			12	1298	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		390					B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Missense_Mutation	SNP	ENST00000380649.3	37	c.1168A>G	CCDS1721.1	.	.	.	.	.	.	.	.	.	.	T	28.4	4.915514	0.92178	.	.	ENSG00000084754	ENST00000380649	T	0.76578	-1.03	5.0	5.0	0.66597	3-hydroxyacyl-CoA dehydrogenase, NAD binding (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.89622	0.6768	M	0.90814	3.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.91723	0.5390	10	0.87932	D	0	.	13.829	0.63368	0.0:0.0:0.0:1.0	.	390;390	E9KL44;P40939	.;ECHA_HUMAN	E	390	ENSP00000370023:K390E	ENSP00000370023:K390E	K	-	1	0	HADHA	26280487	1.000000	0.71417	0.977000	0.42913	0.892000	0.51952	8.005000	0.88553	1.995000	0.58328	0.533000	0.62120	AAA		0.502	HADHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214051.1	NM_000182		162	264	0	0	0	0.00361	0	162	264				
KCNK3	3777	broad.mit.edu	37	2	26915939	26915939	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:26915939G>T	ENST00000302909.3	+	1	321	c.196G>T	c.(196-198)Gtg>Ttg	p.V66L		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	66					brain development (GO:0007420)|cellular response to hypoxia (GO:0071456)|cellular response to zinc ion (GO:0071294)|cochlea development (GO:0090102)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ion channel activity (GO:0005216)|open rectifier potassium channel activity (GO:0005252)|potassium channel activity (GO:0005267)|potassium ion leak channel activity (GO:0022841)|S100 protein binding (GO:0044548)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Doxapram(DB00561)|Halothane(DB01159)	GGAGCGCGTCGTGCTGCGCCT	0.697																																					GBM(80;1457 1631 27100 45946)	GBM(80;1457 1631 27100 45946)	uc002rhn.2		NA																	0				ovary(1)	1						c.(196-198)GTG>TTG		potassium channel, subfamily K, member 3							11.0	12.0	12.0					2																	26915939		2150	4230	6380	SO:0001583	missense	3777				synaptic transmission	integral to plasma membrane		g.chr2:26915939G>T	AF006823	CCDS1727.1	2p23	2012-03-07			ENSG00000171303	ENSG00000171303		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6278	protein-coding gene	gene with protein product		603220				9312005, 9721223, 16382106	Standard	NM_002246		Approved	K2p3.1, TASK, TASK-1	uc002rhn.2	O14649	OTTHUMG00000125530	ENST00000302909.3:c.196G>T	2.37:g.26915939G>T	ENSP00000306275:p.Val66Leu						p.V66L	NM_002246	NP_002237	O14649	KCNK3_HUMAN			1	359	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		66					Q53SU2	Missense_Mutation	SNP	ENST00000302909.3	37	c.196G>T	CCDS1727.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.958075	0.53400	.	.	ENSG00000171303	ENST00000302909	T	0.21191	2.02	3.15	2.24	0.28232	.	0.000000	0.56097	U	0.000024	T	0.17152	0.0412	L	0.31664	0.95	0.45777	D	0.99866	B	0.29037	0.231	B	0.35688	0.208	T	0.06935	-1.0799	10	0.54805	T	0.06	.	9.6711	0.40013	0.0:0.2156:0.7844:0.0	.	66	O14649	KCNK3_HUMAN	L	66	ENSP00000306275:V66L	ENSP00000306275:V66L	V	+	1	0	KCNK3	26769443	0.881000	0.30235	1.000000	0.80357	0.727000	0.41649	1.042000	0.30303	0.520000	0.28426	0.305000	0.20034	GTG		0.697	KCNK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246861.2	NM_002246		12	16	1	0	3.07112e-06	0.000978	3.69777e-06	12	16				
SLC35F6	54978	broad.mit.edu	37	2	26997191	26997191	+	Splice_Site	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:26997191G>T	ENST00000344420.5	+	2	212	c.150G>T	c.(148-150)caG>caT	p.Q50H	SLC35F6_ENST00000416475.2_Splice_Site_p.A25S|CENPA_ENST00000475662.1_Intron|SLC35F6_ENST00000482746.1_Intron	NM_017877.3	NP_060347.2	Q8N357	S35F6_HUMAN	solute carrier family 35, member F6	50					negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|positive regulation of cell proliferation (GO:0008284)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)											CCTTCCTCCAGGTATCTGGCC	0.627																																							uc002rhp.1		NA																	0					0						c.(148-150)CAG>CAT		ANT2-binding protein precursor							114.0	96.0	102.0					2																	26997191		2203	4300	6503	SO:0001630	splice_region_variant	54978					integral to membrane|lysosomal membrane		g.chr2:26997191G>T	AK075164	CCDS1728.1	2p24.1	2012-12-13	2012-12-07	2012-12-07	ENSG00000213699	ENSG00000213699			26055	protein-coding gene	gene with protein product	"""ANT2-binding protein"", ""transport and golgi organization 9 homolog (Drosophila)"""		"""chromosome 2 open reading frame 18"""	C2orf18		15911612, 19154410	Standard	NM_017877		Approved	FLJ20555, ANT2BP, TANGO9	uc002rhp.1	Q8N357	OTTHUMG00000128407	ENST00000344420.5:c.150+1G>T	2.37:g.26997191G>T						C2orf18_uc002rhq.1_Missense_Mutation_p.A25S|C2orf18_uc010eyo.1_Intron|C2orf18_uc010ylc.1_Intron	p.Q50H	NM_017877	NP_060347	Q8N357	CB018_HUMAN			2	226	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		50			Helical; (Potential).		D6W543|Q53GK2|Q8NBX6|Q9NWX0	Missense_Mutation	SNP	ENST00000344420.5	37	c.150G>T	CCDS1728.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.3|23.3	4.393953|4.393953	0.83011|0.83011	.|.	.|.	ENSG00000213699|ENSG00000213699	ENST00000416475|ENST00000344420	T|.	0.76060|.	-0.99|.	5.84|5.84	4.06|4.06	0.47325|0.47325	.|.	.|0.051594	.|0.85682	.|D	.|0.000000	T|T	0.81673|0.81673	0.4872|0.4872	M|M	0.92691|0.92691	3.335|3.335	0.80722|0.80722	D|D	1|1	P|D	0.42296|0.89917	0.775|1.0	B|D	0.43701|0.91635	0.428|0.999	T|T	0.82694|0.82694	-0.0330|-0.0330	9|9	0.62326|0.49607	D|T	0.03|0.09	.|.	10.4992|10.4992	0.44796|0.44796	0.1569:0.0:0.8431:0.0|0.1569:0.0:0.8431:0.0	.|.	25|50	B4DLH2|Q8N357	.|CB018_HUMAN	S|H	25|50	ENSP00000413413:A25S|.	ENSP00000413413:A25S|ENSP00000345528:Q50H	A|Q	+|+	1|3	0|2	C2orf18|C2orf18	26850695|26850695	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	8.572000|8.572000	0.90756|0.90756	0.832000|0.832000	0.34804|0.34804	0.561000|0.561000	0.74099|0.74099	GCT|CAG		0.627	SLC35F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250187.2	NM_017877	Missense_Mutation	10	44	1	0	6.40141e-05	0.000978	7.28859e-05	10	44				
PLB1	151056	broad.mit.edu	37	2	28812885	28812885	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:28812885G>T	ENST00000327757.5	+	29	2074	c.2030G>T	c.(2029-2031)gGc>gTc	p.G677V	PLB1_ENST00000422425.2_Missense_Mutation_p.G666V|PLB1_ENST00000329020.6_Missense_Mutation_p.G365V	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	677	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GAGCCTGTTGGCCAGAAGACG	0.552																																							uc002rmb.1		NA																	0				ovary(4)|large_intestine(2)|skin(2)|breast(1)	9						c.(2029-2031)GGC>GTC		phospholipase B1 precursor							136.0	135.0	135.0					2																	28812885		2203	4300	6503	SO:0001583	missense	151056				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	g.chr2:28812885G>T		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.2030G>T	2.37:g.28812885G>T	ENSP00000330442:p.Gly677Val					PLB1_uc010ezj.1_Missense_Mutation_p.G666V|PLB1_uc002rmc.2_Missense_Mutation_p.G365V|PLB1_uc002rmd.1_Missense_Mutation_p.G187V	p.G677V	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN			29	2030	+	Acute lymphoblastic leukemia(172;0.155)		677			4 X 308-326 AA approximate repeats.|2.|Extracellular (Potential).		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	ENST00000327757.5	37	c.2030G>T	CCDS33168.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.34|17.34	3.364436|3.364436	0.61513|0.61513	.|.	.|.	ENSG00000163803|ENSG00000163803	ENST00000404858|ENST00000327757;ENST00000422425;ENST00000436544;ENST00000329020	.|T;T;T;T	.|0.46819	.|0.86;0.86;0.86;0.86	5.61|5.61	4.73|4.73	0.59995|0.59995	.|Esterase, SGNH hydrolase-type (1);	.|0.227351	.|0.44097	.|D	.|0.000492	T|T	0.73969|0.73969	0.3655|0.3655	M|M	0.93550|0.93550	3.43|3.43	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;0.999;0.999	.|D;D;D;D	.|0.97110	.|1.0;0.999;0.945;0.993	T|T	0.78994|0.78994	-0.1984|-0.1984	5|10	.|0.56958	.|D	.|0.05	-15.1246|-15.1246	10.5489|10.5489	0.45077|0.45077	0.0889:0.0:0.9111:0.0|0.0889:0.0:0.9111:0.0	.|.	.|666;677;365;677	.|Q6P1J6-3;Q6P1J6-4;Q6P1J6-2;Q6P1J6	.|.;.;.;PLB1_HUMAN	S|V	665|677;666;387;365	.|ENSP00000330442:G677V;ENSP00000416440:G666V;ENSP00000392493:G387V;ENSP00000330729:G365V	.|ENSP00000330442:G677V	A|G	+|+	1|2	0|0	PLB1|PLB1	28666389|28666389	0.990000|0.990000	0.36364|0.36364	0.991000|0.991000	0.47740|0.47740	0.634000|0.634000	0.38068|0.38068	2.147000|2.147000	0.42226|0.42226	1.511000|1.511000	0.48818|0.48818	0.655000|0.655000	0.94253|0.94253	GCC|GGC		0.552	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			33	72	1	0	2.6416e-12	0.00623	3.88532e-12	33	72				
ALK	238	broad.mit.edu	37	2	29443644	29443644	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:29443644G>T	ENST00000389048.3	-	23	4479	c.3573C>A	c.(3571-3573)ccC>ccA	p.P1191P	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1191	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	GGATGAACCGGGGCAGGGATT	0.567			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																														uc002rmy.2		NA	yes	Dom	yes	Familial neuroblastoma	2	2p23	238	T|Mis|A	anaplastic lymphoma kinase (Ki-1)			"""L, E, M"""	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	neuroblastoma	ALCL|NSCLC|Neuroblastoma	NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	0				haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218						c.(3571-3573)CCC>CCA		anaplastic lymphoma kinase precursor	Adenosine triphosphate(DB00171)						49.0	51.0	51.0					2																	29443644		2203	4300	6503	SO:0001819	synonymous_variant	238	Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:29443644G>T	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.3573C>A	2.37:g.29443644G>T						ALK_uc010ymo.1_Silent_p.P123P	p.P1191P	NM_004304	NP_004295	Q9UM73	ALK_HUMAN			23	4480	-	Acute lymphoblastic leukemia(172;0.155)		1191			Protein kinase.|Cytoplasmic (Potential).		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Silent	SNP	ENST00000389048.3	37	c.3573C>A	CCDS33172.1																																																																																				0.567	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		6	34	1	0	0.00448238	0.004482	0.00476433	6	34				
NLRC4	58484	broad.mit.edu	37	2	32477568	32477568	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:32477568T>C	ENST00000404025.2	-	4	670	c.182A>G	c.(181-183)aAg>aGg	p.K61R	NLRC4_ENST00000402280.1_Missense_Mutation_p.K61R|NLRC4_ENST00000360906.5_Missense_Mutation_p.K61R|NLRC4_ENST00000342905.6_Missense_Mutation_p.K61R			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	61	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CTCTGAACCCTTTTTCAAAAT	0.398																																							uc002roi.2		NA																	0				ovary(3)|large_intestine(1)|lung(1)|skin(1)	6						c.(181-183)AAG>AGG		caspase recruitment domain protein 12							135.0	127.0	130.0					2																	32477568		2203	4300	6503	SO:0001583	missense	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32477568T>C	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.182A>G	2.37:g.32477568T>C	ENSP00000385090:p.Lys61Arg					NLRC4_uc002roj.1_Missense_Mutation_p.K61R|NLRC4_uc010ezt.1_Missense_Mutation_p.K61R	p.K61R	NM_021209	NP_067032	Q9NPP4	NLRC4_HUMAN			3	428	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		61			CARD.		A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	ENST00000404025.2	37	c.182A>G	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	T	14.28	2.489736	0.44249	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000342905;ENST00000404025	T;T;T;T	0.26518	1.73;1.73;1.73;1.73	4.1	2.9	0.33743	DEATH-like (2);Caspase Recruitment (2);	0.000000	0.48286	D	0.000184	T	0.26048	0.0635	L	0.34521	1.04	0.30094	N	0.808046	P;D	0.56287	0.939;0.975	P;P	0.56042	0.538;0.79	T	0.24584	-1.0156	9	0.13108	T	0.6	-16.6244	8.2538	0.31743	0.1781:0.0:0.0:0.8219	.	61;61	Q9NPP4-2;Q9NPP4	.;NLRC4_HUMAN	R	61	ENSP00000354159:K61R;ENSP00000385428:K61R;ENSP00000339666:K61R;ENSP00000385090:K61R	ENSP00000339666:K61R	K	-	2	0	NLRC4	32331072	1.000000	0.71417	1.000000	0.80357	0.248000	0.25809	1.904000	0.39868	0.706000	0.31912	0.338000	0.21704	AAG		0.398	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		3	119	0	0	0	0.000602	0	3	119				
HEATR5B	54497	broad.mit.edu	37	2	37208830	37208830	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:37208830G>C	ENST00000233099.5	-	36	6114	c.6019C>G	c.(6019-6021)Ctc>Gtc	p.L2007V	HEATR5B_ENST00000354531.2_Missense_Mutation_p.L1918V	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	2007						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				AAATTCTGGAGTGCAAACTCA	0.433																																							uc002rpp.1		NA																	0				ovary(5)|skin(2)|breast(1)	8						c.(6019-6021)CTC>GTC		HEAT repeat containing 5B							81.0	88.0	85.0					2																	37208830		2203	4300	6503	SO:0001583	missense	54497						binding	g.chr2:37208830G>C	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.6019C>G	2.37:g.37208830G>C	ENSP00000233099:p.Leu2007Val					HEATR5B_uc002rpo.1_Missense_Mutation_p.L319V|HEATR5B_uc010ezy.1_Missense_Mutation_p.L502V	p.L2007V	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN			36	6115	-		all_hematologic(82;0.21)	2007					B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	c.6019C>G	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.465083	0.84425	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.68479	-0.33;-0.33	5.61	5.61	0.85477	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.82926	0.5143	M	0.83384	2.64	0.36506	D	0.869287	D;D	0.76494	0.994;0.999	D;D	0.72075	0.96;0.976	T	0.82186	-0.0582	10	0.24483	T	0.36	-7.0627	20.0018	0.97417	0.0:0.0:1.0:0.0	.	2007;2007	Q9P2D3;B9EK47	HTR5B_HUMAN;.	V	2007;1918	ENSP00000233099:L2007V;ENSP00000346531:L1918V	ENSP00000233099:L2007V	L	-	1	0	HEATR5B	37062334	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.645000	0.83430	2.793000	0.96121	0.655000	0.94253	CTC		0.433	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		18	61	0	0	0	0.008871	0	18	61				
CDKL4	344387	broad.mit.edu	37	2	39411789	39411789	+	Splice_Site	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:39411789C>G	ENST00000395035.3	-	7	735		c.e7-1		CDKL4_ENST00000378803.1_Splice_Site			Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4							cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				CAAGAGTTTCCTGAAAAACAA	0.323																																							uc002rrm.2		NA																	0				ovary(1)	1						c.e7-1		cyclin-dependent kinase-like 4							62.0	62.0	62.0					2																	39411789		2202	4300	6502	SO:0001630	splice_region_variant	344387					cytoplasm	ATP binding|cyclin-dependent protein kinase activity	g.chr2:39411789C>G		CCDS33184.1	2p22.3	2011-11-04			ENSG00000205111	ENSG00000205111		"""Cyclin-dependent kinases"""	19287	protein-coding gene	gene with protein product							Standard	NM_001009565		Approved		uc002rrm.3	Q5MAI5	OTTHUMG00000133574	ENST00000395035.3:c.736-1G>C	2.37:g.39411789C>G						CDKL4_uc010fal.1_Splice_Site_p.E246_splice	p.E246_splice	NM_001009565	NP_001009565	Q5MAI5	CDKL4_HUMAN			7	736	-		all_hematologic(82;0.248)						Q2NME9	Splice_Site	SNP	ENST00000395035.3	37	c.736_splice		.	.	.	.	.	.	.	.	.	.	C	18.13	3.555124	0.65425	.	.	ENSG00000205111	ENST00000451199;ENST00000378803;ENST00000395035	.	.	.	4.6	4.6	0.57074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3261	0.74164	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDKL4	39265293	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	5.624000	0.67764	2.300000	0.77407	0.655000	0.94253	.		0.323	CDKL4-002	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000331655.1	XM_293029	Intron	5	18	0	0	0	0.001168	0	5	18				
EML4	27436	broad.mit.edu	37	2	42522520	42522520	+	Splice_Site	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:42522520G>A	ENST00000318522.5	+	13	1615		c.e13-1		EML4_ENST00000401738.3_Splice_Site|EML4_ENST00000402711.2_Splice_Site	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4						microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)			EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						TTTCCTTGTAGAAATATGAAA	0.318			T	ALK	NSCLC																																		uc002rsi.2		NA		Dom	yes		2	2p21	27436	T	echinoderm microtubule associated protein like 4			E	ALK		NSCLC	EML4/ALK(246)	0				lung(246)|ovary(2)|central_nervous_system(1)|skin(1)	250						c.e13-1		echinoderm microtubule associated protein like 4							105.0	111.0	109.0					2																	42522520		2203	4300	6503	SO:0001630	splice_region_variant	27436				microtubule-based process|mitosis	cytoplasm|microtubule	protein binding	g.chr2:42522520G>A	AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"""WD repeat domain containing"""	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.1354-1G>A	2.37:g.42522520G>A						EML4_uc010fap.2_Splice_Site_p.K394_splice|EML4_uc002rsj.2_Splice_Site_p.K141_splice	p.K452_splice	NM_019063	NP_061936	Q9HC35	EMAL4_HUMAN			13	1616	+								A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Splice_Site	SNP	ENST00000318522.5	37	c.1354_splice	CCDS1807.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.451073	0.84209	.	.	ENSG00000143924	ENST00000318522;ENST00000402711;ENST00000401738	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7157	0.96119	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EML4	42376024	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.813000	0.99286	2.749000	0.94314	0.655000	0.94253	.		0.318	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250463.3	NM_019063	Intron	29	59	0	0	0	0.003755	0	29	59				
ABCG8	64241	broad.mit.edu	37	2	44079786	44079786	+	Missense_Mutation	SNP	C	C	G	rs533359544		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:44079786C>G	ENST00000272286.2	+	6	833	c.743C>G	c.(742-744)gCc>gGc	p.A248G		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	248	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	AGCTTCACAGCCCACAACCTG	0.582																																							uc002rtq.2		NA																	0				skin(3)|ovary(1)	4						c.(742-744)GCC>GGC		ATP-binding cassette sub-family G member 8							94.0	87.0	89.0					2																	44079786		2203	4300	6503	SO:0001583	missense	64241				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44079786C>G	AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"""ATP binding cassette transporters / subfamily G"""	13887	protein-coding gene	gene with protein product	"""gallbladder disease 4"", ""sterolin 2"""	605460	"""ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"""			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.743C>G	2.37:g.44079786C>G	ENSP00000272286:p.Ala248Gly					ABCG8_uc010yoa.1_Missense_Mutation_p.A248G	p.A248G	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN			6	833	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	248			ABC transporter.|Cytoplasmic (Potential).		Q53QN8	Missense_Mutation	SNP	ENST00000272286.2	37	c.743C>G	CCDS1815.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.102041	0.76983	.	.	ENSG00000143921	ENST00000272286	T	0.64803	-0.12	5.06	5.06	0.68205	ABC transporter-like (1);	0.171976	0.51477	D	0.000094	T	0.76786	0.4036	M	0.78456	2.415	0.80722	D	1	D;P	0.54047	0.964;0.939	P;P	0.56563	0.801;0.556	T	0.80460	-0.1373	10	0.66056	D	0.02	.	18.4497	0.90699	0.0:1.0:0.0:0.0	.	248;248	Q9H221-2;Q9H221	.;ABCG8_HUMAN	G	248	ENSP00000272286:A248G	ENSP00000272286:A248G	A	+	2	0	ABCG8	43933290	1.000000	0.71417	0.871000	0.34182	0.544000	0.35116	7.416000	0.80143	2.342000	0.79632	0.561000	0.74099	GCC		0.582	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437		31	66	0	0	0	0.003755	0	31	66				
SOCS5	9655	broad.mit.edu	37	2	46986074	46986074	+	Silent	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:46986074A>T	ENST00000306503.5	+	2	577	c.405A>T	c.(403-405)tcA>tcT	p.S135S	SOCS5_ENST00000394861.2_Silent_p.S135S	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	135					cell growth (GO:0016049)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|JAK-STAT cascade (GO:0007259)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of signal transduction (GO:0009968)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)		receptor tyrosine kinase binding (GO:0030971)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			CCCAGAGTTCATTGGATGCTG	0.463																																							uc002rvf.2		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(403-405)TCA>TCT		suppressor of cytokine signaling 5							66.0	66.0	66.0					2																	46986074		2203	4300	6503	SO:0001819	synonymous_variant	9655				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth			g.chr2:46986074A>T	AB014571	CCDS1830.1	2p21	2013-02-14			ENSG00000171150	ENSG00000171150		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16852	protein-coding gene	gene with protein product		607094				9734811, 11230166	Standard	NM_014011		Approved	KIAA0671, SOCS-5, CIS6, CISH6, Cish5	uc002rvf.3	O75159	OTTHUMG00000128852	ENST00000306503.5:c.405A>T	2.37:g.46986074A>T						SOCS5_uc010yoe.1_Silent_p.S104S|SOCS5_uc002rvg.2_Silent_p.S135S	p.S135S	NM_014011	NP_054730	O75159	SOCS5_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.114)		2	569	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	135					Q53SD4|Q8IYZ4	Silent	SNP	ENST00000306503.5	37	c.405A>T	CCDS1830.1																																																																																				0.463	SOCS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250791.2			14	26	0	0	0	0.00499	0	14	26				
FBXO11	80204	broad.mit.edu	37	2	48050495	48050495	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:48050495T>A	ENST00000403359.3	-	12	1475	c.1403A>T	c.(1402-1404)tAc>tTc	p.Y468F	FBXO11_ENST00000316377.4_Missense_Mutation_p.Y384F|FBXO11_ENST00000434523.2_5'UTR|FBXO11_ENST00000402508.1_Missense_Mutation_p.Y384F	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	468					cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ACTTTCAAAGTAACCCTGAAA	0.328			"""Mis, F, D"""		DLBCL																																		uc010fbl.2		NA		Rec	yes		2	2p16.3	80204		F-box protein 11			L					2	Whole gene deletion(2)		haematopoietic_and_lymphoid_tissue(2)	ovary(1)|lung(1)	2						c.(1150-1152)TAC>TTC		F-box only protein 11 isoform 1							47.0	45.0	46.0					2																	48050495		2203	4300	6503	SO:0001583	missense	80204				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:48050495T>A	AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"""Ubiquitin protein ligase E3 component n-recognins"", ""F-boxes /  ""other"""""	13590	protein-coding gene	gene with protein product	"""ubiquitin protein ligase E3 component n-recognin 6"""	607871	"""F-box only protein 11"""			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.1403A>T	2.37:g.48050495T>A	ENSP00000384823:p.Tyr468Phe					FBXO11_uc002rwe.2_Missense_Mutation_p.Y384F|FBXO11_uc002rwf.2_Missense_Mutation_p.Y384F|FBXO11_uc002rwg.1_Missense_Mutation_p.Y384F|FBXO11_uc010fbk.2_5'UTR	p.Y384F	NM_025133	NP_079409	Q86XK2	FBX11_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		12	1265	-		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	468			PbH1 4.		A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Missense_Mutation	SNP	ENST00000403359.3	37	c.1151A>T	CCDS54357.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.01|18.01	3.527204|3.527204	0.64860|0.64860	.|.	.|.	ENSG00000138081|ENSG00000138081	ENST00000493962|ENST00000402508;ENST00000403359;ENST00000316377	.|T;T;T	.|0.80123	.|-1.34;1.0;-1.34	5.87|5.87	5.87|5.87	0.94306|0.94306	.|Pectin lyase fold/virulence factor (1);Carbohydrate-binding/sugar hydrolysis domain (1);F-box domain, Skp2-like (1);Pectin lyase fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.84602|0.84602	0.5508|0.5508	L|L	0.46885|0.46885	1.475|1.475	0.80722|0.80722	D|D	1|1	.|P	.|0.44776	.|0.843	.|P	.|0.55871	.|0.786	D|D	0.84288|0.84288	0.0498|0.0498	5|10	.|0.45353	.|T	.|0.12	-14.6802|-14.6802	16.2631|16.2631	0.82557|0.82557	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|468	.|Q86XK2	.|FBX11_HUMAN	F|F	259|384;468;384	.|ENSP00000385398:Y384F;ENSP00000384823:Y468F;ENSP00000323822:Y384F	.|ENSP00000323822:Y384F	L|Y	-|-	3|2	2|0	FBXO11|FBXO11	47903999|47903999	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.040000|8.040000	0.89188|0.89188	2.239000|2.239000	0.73571|0.73571	0.528000|0.528000	0.53228|0.53228	TTA|TAC		0.328	FBXO11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251181.3	NM_012167, NM_018693, NM_025133		5	4	0	0	0	0.000602	0	5	4				
NRXN1	9378	broad.mit.edu	37	2	50850559	50850560	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:50850559_50850560CC>AA	ENST00000406316.2	-	6	2502_2503	c.1026_1027GG>TT	c.(1024-1029)ctGGtc>ctTTtc	p.V343F	NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Missense_Mutation_p.V343F|NRXN1_ENST00000405472.3_Missense_Mutation_p.V343F|NRXN1_ENST00000404971.1_Missense_Mutation_p.V376F|NRXN1_ENST00000406859.3_Missense_Mutation_p.V343F|NRXN1_ENST00000402717.3_Missense_Mutation_p.V343F	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	343	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AAATTAATGACCAGAGAGACAG	0.441																																							uc010fbq.2		NA																	0				ovary(2)	2						c.(1123-1128)CTGGTC>CTTTTC		neurexin 1 isoform alpha2 precursor																																				SO:0001583	missense	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50850559_50850560CC>AA	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1026_1027delinsAA	2.37:g.50850559_50850560delinsAA	ENSP00000384311:p.Val343Phe					NRXN1_uc002rxb.3_Missense_Mutation_p.V23F|NRXN1_uc002rxe.3_Missense_Mutation_p.V343F|NRXN1_uc002rxc.1_RNA	p.V376F	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		6	2602_2603	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	DNP	ENST00000406316.2	37	c.1125_1126GG>TT	CCDS54360.1																																																																																				0.441	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			36	75	0	0	0	0.004672	0	36	75				
SPTBN1	6711	broad.mit.edu	37	2	54873410	54873410	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:54873410G>C	ENST00000356805.4	+	23	4945	c.4664G>C	c.(4663-4665)aGc>aCc	p.S1555T	SPTBN1_ENST00000333896.5_Missense_Mutation_p.S1542T	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1555					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GTCACTGACAGCAGCAGCCTC	0.572																																							uc002rxu.2		NA																	0				ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8						c.(4663-4665)AGC>ACC		spectrin, beta, non-erythrocytic 1 isoform 1							63.0	69.0	67.0					2																	54873410		2203	4300	6503	SO:0001583	missense	6711				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54873410G>C		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.4664G>C	2.37:g.54873410G>C	ENSP00000349259:p.Ser1555Thr					SPTBN1_uc002rxx.2_Missense_Mutation_p.S1542T	p.S1555T	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Lung(47;0.24)		23	4913	+			1555			Spectrin 12.		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.4664G>C	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.693783	0.30052	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.52754	0.65;0.65	4.76	4.76	0.60689	.	0.271361	0.48286	D	0.000185	T	0.28134	0.0694	N	0.08118	0	0.35488	D	0.798727	B;B	0.26081	0.141;0.003	B;B	0.29077	0.098;0.016	T	0.32455	-0.9906	10	0.20046	T	0.44	.	13.1518	0.59494	0.0:0.0:1.0:0.0	.	1542;1555	Q01082-3;Q01082	.;SPTB2_HUMAN	T	1555;1542	ENSP00000349259:S1555T;ENSP00000334156:S1542T	ENSP00000334156:S1542T	S	+	2	0	SPTBN1	54726914	0.969000	0.33509	1.000000	0.80357	0.872000	0.50106	4.096000	0.57734	2.474000	0.83562	0.561000	0.74099	AGC		0.572	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			18	72	0	0	0	0.00499	0	18	72				
EFEMP1	2202	broad.mit.edu	37	2	56104957	56104957	+	Silent	SNP	G	G	A	rs139930646		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:56104957G>A	ENST00000394555.2	-	6	1119	c.684C>T	c.(682-684)tgC>tgT	p.C228C	EFEMP1_ENST00000424836.2_Intron|EFEMP1_ENST00000355426.3_Silent_p.C228C|EFEMP1_ENST00000394554.1_Silent_p.C228C	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	228	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|negative regulation of chondrocyte differentiation (GO:0032331)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|epidermal growth factor-activated receptor activity (GO:0005006)			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GTGTATTCACGCATCTTTGGT	0.423																																					GBM(92;934 1319 7714 28760 40110)	GBM(92;934 1319 7714 28760 40110)	uc002rzh.2		NA																	0				ovary(4)|pancreas(1)|skin(1)	6						c.(682-684)TGC>TGT		EGF-containing fibulin-like extracellular matrix		G	,	1,4405	2.1+/-5.4	0,1,2202	202.0	188.0	193.0		684,684	-8.9	0.5	2	dbSNP_134	193	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	EFEMP1	NM_001039348.2,NM_001039349.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	228/494,228/494	56104957	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2202				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity	g.chr2:56104957G>A	U03877	CCDS1857.1	2p16	2013-01-08	2011-01-25		ENSG00000115380	ENSG00000115380		"""Fibulins"""	3218	protein-coding gene	gene with protein product	"""fibulin 3"""	601548	"""fibrillin-like"", ""EGF-containing fibulin-like extracellular matrix protein 1"""	DHRD, FBNL		8812496, 7799918	Standard	NM_001039348		Approved	S1-5, FBLN3, MTLV	uc002rzi.3	Q12805	OTTHUMG00000129343	ENST00000394555.2:c.684C>T	2.37:g.56104957G>A						EFEMP1_uc002rzi.2_Silent_p.C228C|EFEMP1_uc002rzj.2_Silent_p.C228C|EFEMP1_uc010ypc.1_Intron	p.C228C	NM_004105	NP_004096	Q12805	FBLN3_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		6	1014	-			228			EGF-like 3; calcium-binding (Potential).		A8K3I4|B4DW75|D6W5D2|Q541U7	Silent	SNP	ENST00000394555.2	37	c.684C>T	CCDS1857.1																																																																																				0.423	EFEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251491.2			55	132	0	0	0	0.00361	0	55	132				
ARHGAP25	9938	broad.mit.edu	37	2	69002507	69002507	+	Silent	SNP	G	G	A	rs375946857		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:69002507G>A	ENST00000295381.3	+	2	635	c.216G>A	c.(214-216)gcG>gcA	p.A72A	ARHGAP25_ENST00000497079.1_Silent_p.A65A|ARHGAP25_ENST00000544262.1_Silent_p.A46A|ARHGAP25_ENST00000409030.3_Silent_p.A65A|ARHGAP25_ENST00000409202.3_Silent_p.A72A|ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000467265.1_Silent_p.A72A|ARHGAP25_ENST00000409220.1_Silent_p.A65A	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	72	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						TGCTGAGGGCGCAGCAGCTCT	0.597																																							uc002seu.2		NA																	0				ovary(2)|breast(2)	4						c.(214-216)GCG>GCA		Rho GTPase activating protein 25 isoform a		G	,,,	1,4405	2.1+/-5.4	0,1,2202	113.0	119.0	117.0		216,195,216,195	-11.2	0.0	2		117	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ARHGAP25	NM_001007231.2,NM_001166276.1,NM_001166277.1,NM_014882.2	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	72/647,65/640,72/607,65/639	69002507	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9938				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr2:69002507G>A	D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.216G>A	2.37:g.69002507G>A						ARHGAP25_uc010yqk.1_Silent_p.A46A|ARHGAP25_uc010fdg.2_Silent_p.A72A|ARHGAP25_uc010yql.1_Silent_p.A72A|ARHGAP25_uc002sev.2_Silent_p.A65A|ARHGAP25_uc002sew.2_Silent_p.A65A|ARHGAP25_uc002sex.2_Silent_p.A65A|ARHGAP25_uc010fdh.1_Intron	p.A72A	NM_001007231	NP_001007232	P42331	RHG25_HUMAN			2	580	+			72			PH.		A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Silent	SNP	ENST00000295381.3	37	c.216G>A																																																																																					0.597	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882		3	78	0	0	0	0.009096	0	3	78				
ARHGAP25	9938	broad.mit.edu	37	2	69015026	69015026	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:69015026C>A	ENST00000295381.3	+	4	823	c.404C>A	c.(403-405)tCt>tAt	p.S135Y	ARHGAP25_ENST00000497079.1_Missense_Mutation_p.S128Y|ARHGAP25_ENST00000544262.1_Missense_Mutation_p.S109Y|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.S128Y|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.S135Y|ARHGAP25_ENST00000456116.2_Intron|ARHGAP25_ENST00000467265.1_Intron|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.S128Y	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	135	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						ATGGCCAGCTCTCAGGCGGAG	0.542																																							uc002seu.2		NA																	0				ovary(2)|breast(2)	4						c.(403-405)TCT>TAT		Rho GTPase activating protein 25 isoform a							111.0	104.0	106.0					2																	69015026		2203	4300	6503	SO:0001583	missense	9938				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr2:69015026C>A	D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.404C>A	2.37:g.69015026C>A	ENSP00000295381:p.Ser135Tyr					ARHGAP25_uc010yqk.1_Missense_Mutation_p.S109Y|ARHGAP25_uc010fdg.2_Missense_Mutation_p.S135Y|ARHGAP25_uc010yql.1_Intron|ARHGAP25_uc002sev.2_Missense_Mutation_p.S128Y|ARHGAP25_uc002sew.2_Missense_Mutation_p.S128Y|ARHGAP25_uc002sex.2_Missense_Mutation_p.S128Y|ARHGAP25_uc010fdh.1_RNA	p.S135Y	NM_001007231	NP_001007232	P42331	RHG25_HUMAN			4	768	+			135			PH.		A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Missense_Mutation	SNP	ENST00000295381.3	37	c.404C>A		.	.	.	.	.	.	.	.	.	.	C	23.9	4.471926	0.84533	.	.	ENSG00000163219	ENST00000544262;ENST00000295381;ENST00000409202;ENST00000409030;ENST00000409220;ENST00000482106;ENST00000497079;ENST00000543533	T;T;T;T;T;T	0.20069	2.1;2.1;2.1;2.1;2.1;2.1	5.78	5.78	0.91487	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.120579	0.64402	D	0.000020	T	0.62551	0.2437	H	0.97516	4.02	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.998;0.999;0.999;0.999;0.999;0.999	T	0.75161	-0.3415	10	0.62326	D	0.03	.	15.5025	0.75709	0.0:1.0:0.0:0.0	.	109;135;128;128;128;135	B7Z8K7;P42331-4;G5E9G2;P42331-3;P42331-2;P42331	.;.;.;.;.;RHG25_HUMAN	Y	109;135;135;128;128;128;128;119	ENSP00000439917:S109Y;ENSP00000295381:S135Y;ENSP00000386911:S135Y;ENSP00000386863:S128Y;ENSP00000386241:S128Y;ENSP00000417139:S128Y	ENSP00000295381:S135Y	S	+	2	0	ARHGAP25	68868530	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.933000	0.63484	2.722000	0.93159	0.467000	0.42956	TCT		0.542	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882		44	76	1	0	2.52991e-16	0.00361	4.0192e-16	44	76				
ANTXR1	84168	broad.mit.edu	37	2	69302789	69302789	+	Splice_Site	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:69302789A>T	ENST00000303714.4	+	7	882	c.560A>T	c.(559-561)cAg>cTg	p.Q187L	ANTXR1_ENST00000409349.3_Splice_Site_p.Q187L|ANTXR1_ENST00000409829.3_Splice_Site_p.Q187L	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	187	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				actin cytoskeleton reorganization (GO:0031532)|reproductive process (GO:0022414)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|lamellipodium membrane (GO:0031258)	actin filament binding (GO:0051015)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|transmembrane signaling receptor activity (GO:0004888)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						AATGAGACACAGGTATGGTAA	0.408									Familial Infantile Hemangioma																														uc002sfg.2		NA																	0				ovary(2)|skin(2)	4						c.(559-561)CAG>CTG		anthrax toxin receptor 1 isoform 1 precursor							267.0	246.0	253.0					2																	69302789		2203	4300	6503	SO:0001630	splice_region_variant	84168	Familial_Infantile_Hemangioma	Familial Cancer Database	Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma	actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity	g.chr2:69302789A>T	AF421380	CCDS1892.1, CCDS46313.1, CCDS46314.1	2p13.1	2006-04-12			ENSG00000169604	ENSG00000169604			21014	protein-coding gene	gene with protein product	"""anthrax toxin receptor"", ""tumor endothelial marker 8 precursor"""	606410				10947988, 11559528	Standard	NM_032208		Approved	TEM8, FLJ21776, FLJ10601, ATR	uc002sfg.3	Q9H6X2	OTTHUMG00000129575	ENST00000303714.4:c.561+1A>T	2.37:g.69302789A>T						ANTXR1_uc002sfe.2_Missense_Mutation_p.Q187L|ANTXR1_uc002sff.2_Missense_Mutation_p.Q187L|ANTXR1_uc002sfd.2_Missense_Mutation_p.Q187L	p.Q187L	NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN			7	916	+			187			Extracellular (Potential).|VWFA.		A8K7U8|J7K7G4|J7KF88|Q4ZFV6|Q53QD8|Q96P02|Q9NVP3	Missense_Mutation	SNP	ENST00000303714.4	37	c.560A>T	CCDS1892.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.4|23.4	4.415942|4.415942	0.83449|0.83449	.|.	.|.	ENSG00000169604|ENSG00000169604	ENST00000303714;ENST00000409829;ENST00000409349|ENST00000482235	D;D;D|.	0.83591|.	-1.74;-1.74;-1.74|.	5.76|5.76	5.76|5.76	0.90799|0.90799	von Willebrand factor, type A (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77219|0.77219	0.4098|0.4098	M|M	0.83223|0.83223	2.63|2.63	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;0.999;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.999;0.967;0.994;0.998|.	T|T	0.79288|0.79288	-0.1865|-0.1865	10|5	0.87932|.	D|.	0|.	-16.4275|-16.4275	14.0305|14.0305	0.64613|0.64613	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	187;187;187;187|.	Q9H6X2;Q9H6X2-2;Q9H6X2-4;Q9H6X2-3|.	ANTR1_HUMAN;.;.;.|.	L|C	187|19	ENSP00000301945:Q187L;ENSP00000387058:Q187L;ENSP00000386494:Q187L|.	ENSP00000301945:Q187L|.	Q|S	+|+	2|1	0|0	ANTXR1|ANTXR1	69156293|69156293	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.901000|0.901000	0.52897|0.52897	7.709000|7.709000	0.84645|0.84645	2.199000|2.199000	0.70637|0.70637	0.455000|0.455000	0.32223|0.32223	CAG|AGC		0.408	ANTXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251770.2	NM_032208	Missense_Mutation	52	110	0	0	0	0.00361	0	52	110				
AAK1	22848	broad.mit.edu	37	2	69734643	69734643	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:69734643C>G	ENST00000409085.4	-	15	2450	c.2074G>C	c.(2074-2076)Ggg>Cgg	p.G692R	AAK1_ENST00000409068.1_Intron|AAK1_ENST00000406297.3_Missense_Mutation_p.G692R	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	692					endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880)	cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195)	AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						CACGTAGACCCTTCTGAAGGA	0.478																																							uc002sfp.2		NA																	0					0						c.(2074-2076)GGG>CGG		AP2 associated kinase 1							92.0	85.0	87.0					2																	69734643		1888	4104	5992	SO:0001583	missense	22848					coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity	g.chr2:69734643C>G	AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648	ENST00000409085.4:c.2074G>C	2.37:g.69734643C>G	ENSP00000386456:p.Gly692Arg					AAK1_uc010fdk.2_Missense_Mutation_p.G692R|AAK1_uc010yqm.1_Missense_Mutation_p.G693R	p.G692R	NM_014911	NP_055726	Q2M2I8	AAK1_HUMAN			15	2579	-			692					Q4ZFZ3|Q53RX6|Q9UPV4	Missense_Mutation	SNP	ENST00000409085.4	37	c.2074G>C	CCDS1893.2	.	.	.	.	.	.	.	.	.	.	C	13.26	2.185069	0.38609	.	.	ENSG00000115977	ENST00000409085;ENST00000406297	T;T	0.24908	1.83;1.83	5.12	3.26	0.37387	.	0.720725	0.14723	N	0.302206	T	0.13927	0.0337	N	0.24115	0.695	0.19775	N	0.999956	P;P;P	0.45474	0.779;0.859;0.492	B;B;B	0.40009	0.168;0.316;0.103	T	0.08868	-1.0701	10	0.15952	T	0.53	-1.8683	5.7161	0.17960	0.0:0.6115:0.1398:0.2487	.	692;692;692	B7ZLC4;Q2M2I8-2;Q2M2I8	.;.;AAK1_HUMAN	R	692	ENSP00000386456:G692R;ENSP00000385181:G692R	ENSP00000385181:G692R	G	-	1	0	AAK1	69588147	0.254000	0.23992	0.989000	0.46669	0.960000	0.62799	0.230000	0.17852	0.621000	0.30232	0.650000	0.86243	GGG		0.478	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251847.4	NM_014911		8	9	0	0	0	0.004482	0	8	9				
DYSF	8291	broad.mit.edu	37	2	71741043	71741043	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:71741043G>T	ENST00000258104.3	+	6	932	c.655G>T	c.(655-657)Gat>Tat	p.D219Y	DYSF_ENST00000409762.1_Missense_Mutation_p.D250Y|DYSF_ENST00000429174.2_Missense_Mutation_p.D219Y|DYSF_ENST00000409366.1_Missense_Mutation_p.D220Y|DYSF_ENST00000394120.2_Missense_Mutation_p.D220Y|DYSF_ENST00000409582.3_Missense_Mutation_p.D250Y|DYSF_ENST00000410020.3_Missense_Mutation_p.D251Y|DYSF_ENST00000409651.1_Missense_Mutation_p.D251Y|DYSF_ENST00000413539.2_Missense_Mutation_p.D250Y|DYSF_ENST00000410041.1_Missense_Mutation_p.D251Y|DYSF_ENST00000409744.1_Missense_Mutation_p.D220Y	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	219	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CAAACCGCAGGATTTCCAGGT	0.572																																							uc002sie.2		NA																	0				ovary(3)|breast(2)|pancreas(1)|skin(1)	7						c.(655-657)GAT>TAT		dysferlin isoform 8							42.0	42.0	42.0					2																	71741043		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71741043G>T	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.655G>T	2.37:g.71741043G>T	ENSP00000258104:p.Asp219Tyr					DYSF_uc010feg.2_Missense_Mutation_p.D250Y|DYSF_uc010feh.2_Missense_Mutation_p.D219Y|DYSF_uc002sig.3_Missense_Mutation_p.D219Y|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.D219Y|DYSF_uc010fef.2_Missense_Mutation_p.D250Y|DYSF_uc010fei.2_Missense_Mutation_p.D250Y|DYSF_uc010fek.2_Missense_Mutation_p.D251Y|DYSF_uc010fej.2_Missense_Mutation_p.D220Y|DYSF_uc010fel.2_Missense_Mutation_p.D220Y|DYSF_uc010feo.2_Missense_Mutation_p.D251Y|DYSF_uc010fem.2_Missense_Mutation_p.D220Y|DYSF_uc010fen.2_Missense_Mutation_p.D251Y|DYSF_uc002sif.2_Missense_Mutation_p.D220Y	p.D219Y	NM_003494	NP_003485	O75923	DYSF_HUMAN			6	1031	+			219			Cytoplasmic (Potential).|C2 2.		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.655G>T	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.068404	0.76301	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86	4.27	4.27	0.50696	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.92987	0.7768	M	0.89414	3.03	0.54753	D	0.999981	D;B;D;D;D;B;D;P;D;D;D;D;D;D	0.89917	1.0;0.289;0.999;0.999;1.0;0.308;1.0;0.749;1.0;0.969;1.0;0.999;0.999;0.999	D;B;D;D;D;B;D;P;D;P;D;D;D;D	0.83275	0.996;0.234;0.978;0.978;0.992;0.333;0.992;0.551;0.987;0.742;0.996;0.978;0.978;0.95	D	0.94005	0.7279	10	0.66056	D	0.02	-32.583	14.6152	0.68544	0.0:0.0:1.0:0.0	.	251;251;220;220;251;220;250;219;250;250;219;219;220;219	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	Y	250;250;250;219;219;251;220;220;220;251;251	ENSP00000407046:D250Y;ENSP00000387137:D250Y;ENSP00000386547:D250Y;ENSP00000398305:D219Y;ENSP00000258104:D219Y;ENSP00000386683:D251Y;ENSP00000377678:D220Y;ENSP00000386285:D220Y;ENSP00000386512:D220Y;ENSP00000386881:D251Y;ENSP00000386617:D251Y	ENSP00000258104:D219Y	D	+	1	0	DYSF	71594551	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.728000	0.84847	2.383000	0.81215	0.549000	0.68633	GAT		0.572	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		12	37	1	0	9.05144e-12	0.001855	1.30675e-11	12	37				
DYSF	8291	broad.mit.edu	37	2	71883330	71883330	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:71883330G>T	ENST00000258104.3	+	42	4825	c.4548G>T	c.(4546-4548)gaG>gaT	p.E1516D	DYSF_ENST00000409762.1_Missense_Mutation_p.E1533D|DYSF_ENST00000429174.2_Missense_Mutation_p.E1537D|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409366.1_Missense_Mutation_p.E1538D|DYSF_ENST00000394120.2_Missense_Mutation_p.E1517D|DYSF_ENST00000409582.3_Missense_Mutation_p.E1554D|DYSF_ENST00000410020.3_Missense_Mutation_p.E1555D|DYSF_ENST00000409651.1_Missense_Mutation_p.E1548D|DYSF_ENST00000413539.2_Missense_Mutation_p.E1547D|DYSF_ENST00000410041.1_Missense_Mutation_p.E1534D|DYSF_ENST00000409744.1_Missense_Mutation_p.E1524D	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1516					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						AGGCCTTTGAGGGCCTGTCTG	0.483																																							uc002sie.2		NA																	0				ovary(3)|breast(2)|pancreas(1)|skin(1)	7						c.(4546-4548)GAG>GAT		dysferlin isoform 8							216.0	212.0	213.0					2																	71883330		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71883330G>T	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.4548G>T	2.37:g.71883330G>T	ENSP00000258104:p.Glu1516Asp					DYSF_uc010feg.2_Missense_Mutation_p.E1547D|DYSF_uc010feh.2_Missense_Mutation_p.E1523D|DYSF_uc002sig.3_Missense_Mutation_p.E1502D|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.E1537D|DYSF_uc010fef.2_Missense_Mutation_p.E1554D|DYSF_uc010fei.2_Missense_Mutation_p.E1533D|DYSF_uc010fek.2_Missense_Mutation_p.E1534D|DYSF_uc010fej.2_Missense_Mutation_p.E1524D|DYSF_uc010fel.2_Missense_Mutation_p.E1503D|DYSF_uc010feo.2_Missense_Mutation_p.E1548D|DYSF_uc010fem.2_Missense_Mutation_p.E1538D|DYSF_uc010fen.2_Missense_Mutation_p.E1555D|DYSF_uc002sif.2_Missense_Mutation_p.E1517D|DYSF_uc010yqy.1_Missense_Mutation_p.E397D|DYSF_uc010yqz.1_Missense_Mutation_p.E277D	p.E1516D	NM_003494	NP_003485	O75923	DYSF_HUMAN			42	4924	+			1516			Cytoplasmic (Potential).		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.4548G>T	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.967031	0.34754	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64	5.54	2.39	0.29439	.	0.269234	0.41097	D	0.000949	T	0.70343	0.3213	L	0.41415	1.275	0.34167	D	0.669317	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.13145	0.001;0.007;0.007;0.007;0.007;0.0;0.0;0.0;0.0;0.007;0.0;0.0;0.004;0.007;0.004	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.21360	0.008;0.034;0.034;0.023;0.014;0.005;0.005;0.005;0.003;0.034;0.002;0.003;0.021;0.034;0.009	T	0.61959	-0.6955	10	0.18276	T	0.48	-28.5975	4.6037	0.12366	0.244:0.0:0.5968:0.1593	.	280;1548;1555;1538;1503;1534;1524;1533;1523;1547;1554;1537;1502;1517;1516	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	D	1547;1533;1554;1537;1516;1548;1517;1524;1538;1555;1534	ENSP00000407046:E1547D;ENSP00000387137:E1533D;ENSP00000386547:E1554D;ENSP00000398305:E1537D;ENSP00000258104:E1516D;ENSP00000386683:E1548D;ENSP00000377678:E1517D;ENSP00000386285:E1524D;ENSP00000386512:E1538D;ENSP00000386881:E1555D;ENSP00000386617:E1534D	ENSP00000258104:E1516D	E	+	3	2	DYSF	71736838	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.871000	0.28023	0.718000	0.32166	0.655000	0.94253	GAG		0.483	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		115	187	1	0	1.49341e-58	0.00361	2.78982e-58	115	187				
TET3	200424	broad.mit.edu	37	2	74274555	74274555	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:74274555C>T	ENST00000409262.3	+	1	1106	c.1106C>T	c.(1105-1107)tCc>tTc	p.S369F		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	369					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCGGCCCCATCCCCTGTACTT	0.652																																							uc002skb.3		NA																	0					0						c.(1105-1107)TCC>TTC		tet oncogene family member 3							29.0	36.0	34.0					2																	74274555		1984	4146	6130	SO:0001583	missense	200424						metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:74274555C>T		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.1106C>T	2.37:g.74274555C>T	ENSP00000386869:p.Ser369Phe					TET3_uc010fez.1_Missense_Mutation_p.S369F	p.S369F	NM_144993	NP_659430	O43151	TET3_HUMAN			1	1106	+			369					A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	ENST00000409262.3	37	c.1106C>T	CCDS46339.1	.	.	.	.	.	.	.	.	.	.	C	3.237	-0.156141	0.06544	.	.	ENSG00000187605	ENST00000305799;ENST00000409262;ENST00000233310	T;T	0.25250	1.81;2.64	4.5	3.62	0.41486	.	.	.	.	.	T	0.13713	0.0332	N	0.08118	0	0.09310	N	0.999999	B	0.06786	0.001	B	0.09377	0.004	T	0.17198	-1.0377	9	0.59425	D	0.04	.	8.6846	0.34229	0.0:0.7574:0.1537:0.0889	.	369	O43151	TET3_HUMAN	F	411;369;369	ENSP00000307803:S411F;ENSP00000386869:S369F	ENSP00000233310:S369F	S	+	2	0	TET3	74128063	0.175000	0.23083	0.006000	0.13384	0.211000	0.24417	1.987000	0.40687	1.202000	0.43218	-0.136000	0.14681	TCC		0.652	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			8	11	0	0	0	0.00308	0	8	11				
TACR1	6869	broad.mit.edu	37	2	75278480	75278480	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:75278480A>T	ENST00000305249.5	-	4	1595	c.830T>A	c.(829-831)cTc>cAc	p.L277H	TACR1_ENST00000409848.3_Missense_Mutation_p.L277H	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	277					acute inflammatory response (GO:0002526)|aggressive behavior (GO:0002118)|angiotensin-mediated drinking behavior (GO:0003051)|associative learning (GO:0008306)|behavioral response to pain (GO:0048266)|detection of abiotic stimulus (GO:0009582)|eating behavior (GO:0042755)|inflammatory response (GO:0006954)|long-term memory (GO:0007616)|operant conditioning (GO:0035106)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of action potential (GO:0045760)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of ossification (GO:0045778)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of saliva secretion (GO:0046878)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|positive regulation of vasoconstriction (GO:0045907)|regulation of smooth muscle cell migration (GO:0014910)|regulation of smooth muscle cell proliferation (GO:0048660)|response to auditory stimulus (GO:0010996)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to progesterone (GO:0032570)|smooth muscle contraction involved in micturition (GO:0060083)|sperm ejaculation (GO:0042713)|tachykinin receptor signaling pathway (GO:0007217)	cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance P receptor activity (GO:0016496)|tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	CTTCAGGTAGAGATCTGGGTT	0.527																																					Pancreas(64;62 1268 3653 14826 43765)	Pancreas(64;62 1268 3653 14826 43765)	uc002sng.2		NA																	0				ovary(1)	1						c.(829-831)CTC>CAC		tachykinin receptor 1 isoform long	Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)						179.0	160.0	167.0					2																	75278480		2203	4300	6503	SO:0001583	missense	6869				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding	g.chr2:75278480A>T	M76675	CCDS1958.1, CCDS46345.1	2p13.1-p12	2012-08-08			ENSG00000115353	ENSG00000115353		"""GPCR / Class A : Tachykinin receptors"""	11526	protein-coding gene	gene with protein product		162323		TAC1R		1657150	Standard	NM_001058		Approved	SPR, NK1R, NKIR	uc002sng.2	P25103	OTTHUMG00000129973	ENST00000305249.5:c.830T>A	2.37:g.75278480A>T	ENSP00000303522:p.Leu277His					TACR1_uc002snh.2_Missense_Mutation_p.L277H	p.L277H	NM_001058	NP_001049	P25103	NK1R_HUMAN			4	1415	-			277			Extracellular (Potential).		A8K150	Missense_Mutation	SNP	ENST00000305249.5	37	c.830T>A	CCDS1958.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.161978	0.78226	.	.	ENSG00000115353	ENST00000305249;ENST00000409848	T;T	0.71817	-0.6;-0.6	5.54	5.54	0.83059	GPCR, rhodopsin-like superfamily (1);	0.584194	0.18222	N	0.147842	T	0.74809	0.3765	M	0.81802	2.56	0.46521	D	0.999082	P	0.49961	0.93	P	0.47626	0.552	T	0.78630	-0.2129	10	0.87932	D	0	.	8.1054	0.30883	0.913:0.0:0.087:0.0	.	277	P25103	NK1R_HUMAN	H	277	ENSP00000303522:L277H;ENSP00000386448:L277H	ENSP00000303522:L277H	L	-	2	0	TACR1	75131988	1.000000	0.71417	0.992000	0.48379	0.984000	0.73092	4.461000	0.60115	2.323000	0.78572	0.528000	0.53228	CTC		0.527	TACR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252239.3	NM_001058		34	87	0	0	0	0.003271	0	34	87				
IMMT	10989	broad.mit.edu	37	2	86371621	86371621	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:86371621C>G	ENST00000410111.3	-	15	2434	c.2047G>C	c.(2047-2049)Gag>Cag	p.E683Q	IMMT_ENST00000409051.2_Missense_Mutation_p.E636Q|IMMT_ENST00000442664.2_Missense_Mutation_p.E682Q|IMMT_ENST00000449247.2_Missense_Mutation_p.E672Q|IMMT_ENST00000254636.5_Missense_Mutation_p.E584Q	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	MIC60_HUMAN	inner membrane protein, mitochondrial	683					mitochondrial calcium ion homeostasis (GO:0051560)|response to cold (GO:0009409)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TTTATATCCTCAGGGCAGAGC	0.473																																							uc002sqz.3		NA																	0				skin(1)	1						c.(2047-2049)GAG>CAG		inner membrane protein, mitochondrial isoform 1							66.0	64.0	65.0					2																	86371621		1864	4115	5979	SO:0001583	missense	10989					integral to mitochondrial inner membrane	protein binding	g.chr2:86371621C>G	D21094	CCDS46355.1, CCDS46356.1, CCDS46357.1	2p11.2	2011-10-04	2010-04-29		ENSG00000132305	ENSG00000132305			6047	protein-coding gene	gene with protein product	"""mitofilin"", ""mitochondrial inner membrane organizing system 2"""	600378	"""inner membrane protein, mitochondrial (mitofilin)"""			9168817, 8039717	Standard	NM_001100169		Approved	P87, P89, HMP, MINOS2	uc002sqz.4	Q16891	OTTHUMG00000153170	ENST00000410111.3:c.2047G>C	2.37:g.86371621C>G	ENSP00000387262:p.Glu683Gln					IMMT_uc002sqy.3_Missense_Mutation_p.E424Q|IMMT_uc002srb.3_Missense_Mutation_p.E672Q|IMMT_uc002sra.3_Missense_Mutation_p.E682Q|IMMT_uc010ytd.1_Missense_Mutation_p.E671Q|IMMT_uc010yte.1_Missense_Mutation_p.E636Q	p.E683Q	NM_006839	NP_006830	Q16891	IMMT_HUMAN			15	2435	-			683			Mitochondrial intermembrane (Potential).		B1H0U5|B2R5N6|Q14539|Q15092|Q68D41|Q69HW5|Q6IBL0|Q7Z3X1|Q8TAJ5|Q9P0V2	Missense_Mutation	SNP	ENST00000410111.3	37	c.2047G>C	CCDS46355.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.96|16.96	3.264993|3.264993	0.59431|0.59431	.|.	.|.	ENSG00000132305|ENSG00000132305	ENST00000254636;ENST00000449247;ENST00000410111;ENST00000442664;ENST00000409051;ENST00000545283;ENST00000377310;ENST00000398211;ENST00000409715|ENST00000419070	T;T;T;T;T|.	0.30981|.	1.51;1.51;1.51;1.51;1.51|.	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	0.094859|.	0.64402|.	D|.	0.000001|.	T|.	0.75280|.	0.3828|.	M|M	0.68952|0.68952	2.095|2.095	0.58432|0.58432	D|D	0.999995|0.999995	P;D;D;D;D|.	0.61697|.	0.875;0.99;0.987;0.987;0.99|.	P;D;P;P;D|.	0.64877|.	0.809;0.93;0.886;0.886;0.93|.	T|.	0.72763|.	-0.4195|.	10|.	0.34782|.	T|.	0.22|.	-12.5678|-12.5678	19.4005|19.4005	0.94627|0.94627	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	636;671;672;651;683|.	B9A067;B4DKR1;Q16891-2;Q16891-3;Q16891|.	.;.;.;.;IMMT_HUMAN|.	Q|S	584;672;683;682;636;672;651;297;584|537	ENSP00000254636:E584Q;ENSP00000396899:E672Q;ENSP00000387262:E683Q;ENSP00000407788:E682Q;ENSP00000387227:E636Q|.	ENSP00000254636:E584Q|.	E|X	-|-	1|2	0|2	IMMT|IMMT	86225132|86225132	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.262000|0.262000	0.26303|0.26303	3.551000|3.551000	0.53698|0.53698	2.820000|2.820000	0.97059|0.97059	0.650000|0.650000	0.86243|0.86243	GAG|TGA		0.473	IMMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329909.2	NM_006839		9	23	0	0	0	0.004482	0	9	23				
ASTL	431705	broad.mit.edu	37	2	96798449	96798449	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:96798449C>G	ENST00000342380.2	-	6	466	c.467G>C	c.(466-468)aGt>aCt	p.S156T		NM_001002036.3	NP_001002036.3			astacin-like metallo-endopeptidase (M12 family)											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						GCGCCCCACACTCGAGAAGCA	0.622																																							uc010yui.1		NA																	0					0						c.(466-468)AGT>ACT		astacin-like metalloendopeptidase precursor							57.0	57.0	57.0					2																	96798449		2203	4300	6503	SO:0001583	missense	431705				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr2:96798449C>G	AJ537600	CCDS33249.1	2q11.1	2014-07-23	2006-10-10		ENSG00000188886	ENSG00000188886	3.4.24.21		31704	protein-coding gene	gene with protein product	"""sperm acrosomal SLLP1 binding"""	608860	"""astacin-like metalloendopeptidase (M12 family)"""			15087446	Standard	NM_001002036		Approved	ovastacin, SAS1B	uc010yui.2	Q6HA08	OTTHUMG00000155212	ENST00000342380.2:c.467G>C	2.37:g.96798449C>G	ENSP00000343674:p.Ser156Thr						p.S156T	NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN			6	467	-			156						Missense_Mutation	SNP	ENST00000342380.2	37	c.467G>C	CCDS33249.1	.	.	.	.	.	.	.	.	.	.	C	4.315	0.057704	0.08339	.	.	ENSG00000188886	ENST00000342380	T	0.62788	-0.0	4.93	3.98	0.46160	Peptidase, metallopeptidase (1);Peptidase M12A, astacin (1);Metallopeptidase, catalytic domain (1);	0.730815	0.11890	N	0.519711	T	0.48409	0.1498	L	0.37507	1.11	0.09310	N	1	P	0.38677	0.642	B	0.34418	0.182	T	0.19844	-1.0293	10	0.24483	T	0.36	-1.4925	9.8311	0.40941	0.0:0.8852:0.0:0.1148	.	156	Q6HA08	ASTL_HUMAN	T	156	ENSP00000343674:S156T	ENSP00000343674:S156T	S	-	2	0	ASTL	96162176	0.000000	0.05858	0.001000	0.08648	0.588000	0.36517	0.136000	0.15974	0.979000	0.38497	0.551000	0.68910	AGT		0.622	ASTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338801.1			10	52	0	0	0	0.006214	0	10	52				
VWA3B	200403	broad.mit.edu	37	2	98872621	98872621	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:98872621C>A	ENST00000477737.1	+	21	3031	c.2827C>A	c.(2827-2829)Caa>Aaa	p.Q943K	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	943										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AGCATTATCTCAAGAGGAAAA	0.323																																							uc002syo.2		NA																	0				ovary(3)|large_intestine(2)|skin(1)	6						c.(2827-2829)CAA>AAA		von Willebrand factor A domain containing 3B							79.0	77.0	78.0					2																	98872621		1799	4066	5865	SO:0001583	missense	200403							g.chr2:98872621C>A	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.2827C>A	2.37:g.98872621C>A	ENSP00000417955:p.Gln943Lys					VWA3B_uc002sym.2_Missense_Mutation_p.Q943K|VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Missense_Mutation_p.Q600K|VWA3B_uc002syp.1_Missense_Mutation_p.Q335K|VWA3B_uc002syq.1_Missense_Mutation_p.Q219K|VWA3B_uc002syr.1_Missense_Mutation_p.Q260K|VWA3B_uc002sys.2_RNA	p.Q943K	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN			21	3091	+			943					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.2827C>A	CCDS42718.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.50|12.50	1.957173|1.957173	0.34565|0.34565	.|.	.|.	ENSG00000168658|ENSG00000168658	ENST00000477737;ENST00000358269|ENST00000473149	T|.	0.07114|.	3.22|.	4.34|4.34	-1.65|-1.65	0.08291|0.08291	.|.	0.684983|.	0.13339|.	N|.	0.395263|.	T|.	0.63343|.	0.2503|.	L|L	0.48642|0.48642	1.525|1.525	0.80722|0.80722	D|D	1|1	B;P;P|.	0.38078|.	0.228;0.544;0.617|.	B;B;B|.	0.34093|.	0.083;0.175;0.173|.	T|.	0.62115|.	-0.6922|.	10|.	0.62326|.	D|.	0.03|.	.|.	16.0267|16.0267	0.80550|0.80550	0.0:0.2477:0.7523:0.0|0.0:0.2477:0.7523:0.0	.|.	335;943;943|.	Q502W6-5;Q502W6;Q502W6-8|.	.;VWA3B_HUMAN;.|.	K|X	943;65|353	ENSP00000417955:Q943K|.	ENSP00000351009:Q65K|.	Q|S	+|+	1|2	0|0	VWA3B|VWA3B	98239053|98239053	0.998000|0.998000	0.40836|0.40836	0.993000|0.993000	0.49108|0.49108	0.975000|0.975000	0.68041|0.68041	0.222000|0.222000	0.17699|0.17699	-0.092000|-0.092000	0.12417|0.12417	-0.176000|-0.176000	0.13171|0.13171	CAA|TCA		0.323	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		6	51	1	0	0.00198382	0.001984	0.00213454	6	51				
CNGA3	1261	broad.mit.edu	37	2	99012508	99012508	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:99012508A>C	ENST00000272602.2	+	7	914	c.875A>C	c.(874-876)gAg>gCg	p.E292A	CNGA3_ENST00000393504.1_Missense_Mutation_p.E292A|CNGA3_ENST00000436404.2_Missense_Mutation_p.E274A|CNGA3_ENST00000409937.1_Missense_Mutation_p.E296A			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	292					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GACCGCACAGAGACAAGGACC	0.473																																							uc002syt.2		NA																	0				ovary(5)|upper_aerodigestive_tract(1)	6						c.(874-876)GAG>GCG		cyclic nucleotide gated channel alpha 3 isoform							89.0	87.0	88.0					2																	99012508		2203	4300	6503	SO:0001583	missense	1261				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr2:99012508A>C	S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.875A>C	2.37:g.99012508A>C	ENSP00000272602:p.Glu292Ala					CNGA3_uc002syu.2_Missense_Mutation_p.E274A|CNGA3_uc010fij.2_Missense_Mutation_p.E296A	p.E292A	NM_001298	NP_001289	Q16281	CNGA3_HUMAN			8	1292	+			292					E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Missense_Mutation	SNP	ENST00000272602.2	37	c.875A>C	CCDS2034.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.967032	0.74131	.	.	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602;ENST00000409937	D;D;D;D	0.98701	-5.08;-5.08;-5.08;-5.08	5.15	5.15	0.70609	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99420	0.9795	H	0.96576	3.845	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.995;0.996;0.999	D	0.98400	1.0567	10	0.87932	D	0	.	14.1071	0.65099	1.0:0.0:0.0:0.0	.	296;274;292	E9PF93;Q4VAP7;Q16281	.;.;CNGA3_HUMAN	A	292;274;292;296	ENSP00000377140:E292A;ENSP00000410070:E274A;ENSP00000272602:E292A;ENSP00000386761:E296A	ENSP00000272602:E292A	E	+	2	0	CNGA3	98378940	1.000000	0.71417	0.993000	0.49108	0.978000	0.69477	8.761000	0.91691	2.163000	0.67991	0.460000	0.39030	GAG		0.473	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298		25	23	0	0	0	0.003954	0	25	23				
IL18RAP	8807	broad.mit.edu	37	2	103053770	103053770	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:103053770G>A	ENST00000264260.2	+	6	1267	c.678G>A	c.(676-678)tcG>tcA	p.S226S	AC007278.2_ENST00000436582.1_RNA|AC007278.3_ENST00000450893.1_RNA|IL18RAP_ENST00000409369.1_Silent_p.S84S	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	226	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						ACACTCAGTCGGATACTGTGA	0.413																																							uc002tbx.2		NA																	0				skin(3)|ovary(2)	5						c.(676-678)TCG>TCA		interleukin 18 receptor accessory protein							135.0	114.0	121.0					2																	103053770		2203	4300	6503	SO:0001819	synonymous_variant	8807				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	g.chr2:103053770G>A	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.678G>A	2.37:g.103053770G>A						IL18RAP_uc010fiz.2_Silent_p.S84S	p.S226S	NM_003853	NP_003844	O95256	I18RA_HUMAN			6	1162	+			226			Ig-like C2-type 1.|Extracellular (Potential).		B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Silent	SNP	ENST00000264260.2	37	c.678G>A	CCDS2061.1																																																																																				0.413	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853		11	62	0	0	0	0.001368	0	11	62				
ST6GAL2	84620	broad.mit.edu	37	2	107459530	107459530	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:107459530C>A	ENST00000409382.3	-	2	1514	c.904G>T	c.(904-906)Gca>Tca	p.A302S	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.A302S|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.A302S|AC016994.2_ENST00000425419.1_RNA	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	302					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						ATTGCGCCTGCAGACATGACG	0.697																																							uc002tdq.2		NA																	0				pancreas(6)|ovary(4)|skin(1)	11						c.(904-906)GCA>TCA		ST6 beta-galactosamide							9.0	12.0	11.0					2																	107459530		1780	3706	5486	SO:0001583	missense	84620				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr2:107459530C>A	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.904G>T	2.37:g.107459530C>A	ENSP00000386942:p.Ala302Ser					ST6GAL2_uc002tdr.2_Missense_Mutation_p.A302S|ST6GAL2_uc002tds.3_Missense_Mutation_p.A302S	p.A302S	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN			2	1023	-			302			Lumenal (Potential).		D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	ENST00000409382.3	37	c.904G>T	CCDS2073.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.853956	0.91355	.	.	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	T;T;T	0.21734	1.99;1.99;1.99	4.78	4.78	0.61160	.	0.107776	0.64402	D	0.000007	T	0.22437	0.0541	N	0.20304	0.555	0.80722	D	1	P;P	0.45283	0.855;0.76	B;P	0.50708	0.446;0.648	T	0.03157	-1.1066	10	0.19590	T	0.45	-11.6122	17.1805	0.86853	0.0:1.0:0.0:0.0	.	302;302	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	S	302	ENSP00000355273:A302S;ENSP00000386942:A302S;ENSP00000387332:A302S	ENSP00000355273:A302S	A	-	1	0	ST6GAL2	106825962	1.000000	0.71417	0.413000	0.26509	0.725000	0.41563	7.394000	0.79862	2.362000	0.80069	0.655000	0.94253	GCA		0.697	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		3	5	1	0	0.00024832	0.009096	0.000277424	3	5				
ANAPC1	64682	broad.mit.edu	37	2	112615883	112615883	+	Splice_Site	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:112615883C>A	ENST00000341068.3	-	11	2130	c.1358G>T	c.(1357-1359)cGc>cTc	p.R453L		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	453					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						ATACACCTACCGTAACTGGAG	0.338																																							uc002thi.2		NA																	0				skin(2)	2						c.(1357-1359)CGC>CTC		anaphase promoting complex subunit 1							76.0	69.0	71.0					2																	112615883		2203	4300	6503	SO:0001630	splice_region_variant	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112615883C>A	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.1358+1G>T	2.37:g.112615883C>A							p.R453L	NM_022662	NP_073153	Q9H1A4	APC1_HUMAN			11	1605	-			453					Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	c.1358G>T	CCDS2093.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.843377	0.51057	.	.	ENSG00000153107	ENST00000341068	.	.	.	4.99	4.99	0.66335	.	0.333662	0.19877	U	0.104072	T	0.67924	0.2945	L	0.39085	1.19	0.80722	D	1	D	0.63880	0.993	D	0.69824	0.966	T	0.65195	-0.6227	8	.	.	.	-3.3916	18.6307	0.91359	0.0:1.0:0.0:0.0	.	453	Q9H1A4	APC1_HUMAN	L	453	.	.	R	-	2	0	ANAPC1	112332354	1.000000	0.71417	1.000000	0.80357	0.595000	0.36748	6.409000	0.73289	2.462000	0.83206	0.561000	0.74099	CGC		0.338	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662	Missense_Mutation	8	26	1	0	0.00448238	0.004482	0.00476433	8	26				
CNTNAP5	129684	broad.mit.edu	37	2	125504840	125504840	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:125504840C>A	ENST00000431078.1	+	14	2473	c.2109C>A	c.(2107-2109)tcC>tcA	p.S703S		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	703	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TTGGGCGGTCCAATGAAAGGC	0.542																																							uc002tno.2		NA																	0				ovary(10)	10						c.(2107-2109)TCC>TCA		contactin associated protein-like 5 precursor							96.0	96.0	96.0					2																	125504840		2023	4190	6213	SO:0001819	synonymous_variant	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125504840C>A	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2109C>A	2.37:g.125504840C>A						CNTNAP5_uc010flu.2_Silent_p.S704S	p.S703S	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	14	2473	+			703			Extracellular (Potential).|Fibrinogen C-terminal.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	ENST00000431078.1	37	c.2109C>A	CCDS46401.1																																																																																				0.542	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			19	23	1	0	3.99206e-14	0.007413	6.05116e-14	19	23				
GPR17	2840	broad.mit.edu	37	2	128408738	128408738	+	Silent	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:128408738C>G	ENST00000272644.3	+	3	587	c.513C>G	c.(511-513)cgC>cgG	p.R171R	LIMS2_ENST00000409254.1_5'Flank|LIMS2_ENST00000324938.5_Intron|GPR17_ENST00000544369.1_Silent_p.R171R|LIMS2_ENST00000410038.1_5'Flank|LIMS2_ENST00000355119.4_Intron|LIMS2_ENST00000410011.1_Intron|LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000409455.1_Intron|GPR17_ENST00000393018.3_Silent_p.R171R|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000545738.2_Intron	NM_001161416.1|NM_001161417.1|NM_005291.2	NP_001154888.1|NP_001154889.1|NP_005282.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	171					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		TCAAGCTCCGCAGGCCCCTCT	0.627																																							uc010yzn.1		NA																	0					0						c.(511-513)CGC>CGG		G protein-coupled receptor 17 isoform a							117.0	102.0	107.0					2																	128408738		2203	4300	6503	SO:0001819	synonymous_variant	2840					integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled	g.chr2:128408738C>G		CCDS2148.1	2q21	2014-01-30			ENSG00000144230	ENSG00000144230		"""GPCR / Class A : Orphans"""	4471	protein-coding gene	gene with protein product		603071				8558062	Standard	NM_001161415		Approved		uc002tpc.3	Q13304	OTTHUMG00000131533	ENST00000272644.3:c.513C>G	2.37:g.128408738C>G						LIMS2_uc002tow.2_5'Flank|LIMS2_uc002tox.2_Intron|LIMS2_uc010fmb.2_Intron|LIMS2_uc002toy.2_Intron|LIMS2_uc010yzm.1_Intron|LIMS2_uc002tpa.2_Intron|LIMS2_uc002toz.2_Intron|LIMS2_uc002tpb.2_Intron|GPR17_uc002tpc.2_Silent_p.R171R|GPR17_uc010yzo.1_Silent_p.R143R|GPR17_uc002tpd.2_Silent_p.R143R	p.R171R	NM_001161415	NP_001154887	Q13304	GPR17_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0677)	4	1124	+	Colorectal(110;0.1)	Ovarian(717;0.15)	171			Cytoplasmic (Potential).		A8K9L0|B2R9X0|Q8N5S7|Q9UDZ6|Q9UE21	Silent	SNP	ENST00000272644.3	37	c.513C>G	CCDS2148.1																																																																																				0.627	GPR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254390.1			18	105	0	0	0	0.010504	0	18	105				
TUBA3E	112714	broad.mit.edu	37	2	130949494	130949494	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:130949494G>T	ENST00000312988.7	-	5	1363	c.1263C>A	c.(1261-1263)gcC>gcA	p.A421A		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	421					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					GGTCCTCGCGGGCCTCAGAGA	0.587																																							uc002tqv.2		NA																	0				skin(1)	1						c.(1261-1263)GCC>GCA		tubulin, alpha 3e							124.0	128.0	127.0					2																	130949494		2203	4300	6503	SO:0001819	synonymous_variant	112714				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr2:130949494G>T	BC057811	CCDS2158.1	2q21.1	2007-03-16			ENSG00000152086	ENSG00000152086		"""Tubulins"""	20765	protein-coding gene	gene with protein product							Standard	NM_207312		Approved		uc002tqv.3	Q6PEY2	OTTHUMG00000131626	ENST00000312988.7:c.1263C>A	2.37:g.130949494G>T							p.A421A	NM_207312	NP_997195	Q6PEY2	TBA3E_HUMAN			5	1364	-	Colorectal(110;0.1)		421						Silent	SNP	ENST00000312988.7	37	c.1263C>A	CCDS2158.1																																																																																				0.587	TUBA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254519.1	NM_207312		35	212	1	0	9.62906e-15	0.00623	1.47612e-14	35	212				
PTPN18	26469	broad.mit.edu	37	2	131126739	131126739	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:131126739G>C	ENST00000175756.5	+	6	549	c.448G>C	c.(448-450)Gag>Cag	p.E150Q	PTPN18_ENST00000347849.3_Missense_Mutation_p.E43Q	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	150	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					CCAGGAGCAGGAGCCACTGCA	0.537																																							uc002trc.2		NA																	0				ovary(3)|kidney(1)	4						c.(448-450)GAG>CAG		protein tyrosine phosphatase, non-receptor type							154.0	163.0	160.0					2																	131126739		2203	4300	6503	SO:0001583	missense	26469					cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity	g.chr2:131126739G>C	X79568	CCDS2161.1, CCDS46410.1	2q21	2011-06-09			ENSG00000072135	ENSG00000072135		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9649	protein-coding gene	gene with protein product		606587				8950995	Standard	NM_014369		Approved	BDP1	uc002trc.3	Q99952	OTTHUMG00000131630	ENST00000175756.5:c.448G>C	2.37:g.131126739G>C	ENSP00000175756:p.Glu150Gln					PTPN18_uc002trd.2_Missense_Mutation_p.E150Q|PTPN18_uc002trb.2_Missense_Mutation_p.E43Q|PTPN18_uc002tre.2_5'Flank	p.E150Q	NM_014369	NP_055184	Q99952	PTN18_HUMAN			6	549	+	Colorectal(110;0.1)		150			Tyrosine-protein phosphatase.		B4E1E6|Q53P42	Missense_Mutation	SNP	ENST00000175756.5	37	c.448G>C	CCDS2161.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.628694	0.46944	.	.	ENSG00000072135	ENST00000175756;ENST00000347849;ENST00000409022	T;D	0.83914	2.72;-1.78	4.39	2.53	0.30540	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.210719	0.23801	N	0.044421	D	0.83709	0.5313	L	0.35487	1.065	0.34712	D	0.727891	D;P;P	0.76494	0.999;0.618;0.618	D;B;B	0.72338	0.977;0.344;0.344	D	0.85430	0.1148	10	0.72032	D	0.01	.	8.0427	0.30532	0.0935:0.1618:0.7447:0.0	.	150;150;43	E7EMB8;Q99952;B4E1E6	.;PTN18_HUMAN;.	Q	150;43;150	ENSP00000175756:E150Q;ENSP00000310092:E43Q	ENSP00000175756:E150Q	E	+	1	0	PTPN18	130843209	0.536000	0.26378	0.548000	0.28192	0.870000	0.49936	0.632000	0.24583	0.530000	0.28619	0.650000	0.86243	GAG		0.537	PTPN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254523.2			48	187	0	0	0	0.00361	0	48	187				
POTEE	445582	broad.mit.edu	37	2	132021826	132021826	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:132021826G>T	ENST00000356920.5	+	15	2892	c.2798G>T	c.(2797-2799)aGc>aTc	p.S933I	PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	933	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											GCGGCCTCCAGCTCCTCCCTA	0.617																																							uc002tsn.2		NA																	0					0						c.(2797-2799)AGC>ATC		protein expressed in prostate, ovary, testis,							116.0	131.0	126.0					2																	132021826		2201	4297	6498	SO:0001583	missense	445582						ATP binding	g.chr2:132021826G>T	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.2798G>T	2.37:g.132021826G>T	ENSP00000439189:p.Ser933Ile					PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.S533I|POTEE_uc002tsl.2_Missense_Mutation_p.S515I|POTEE_uc010fmy.1_Missense_Mutation_p.S397I	p.S933I	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN			15	2850	+			933			Actin-like.		Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	c.2798G>T	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	16.39	3.111110	0.56398	.	.	ENSG00000188219	ENST00000356920	D	0.94862	-3.54	.	.	.	.	.	.	.	.	D	0.97077	0.9045	H	0.97659	4.05	0.80722	D	1	D	0.65815	0.995	P	0.59357	0.856	D	0.94088	0.7350	8	0.87932	D	0	.	3.6382	0.08157	2.0E-4:0.4947:0.5049:2.0E-4	.	933	Q6S8J3	POTEE_HUMAN	I	933	ENSP00000439189:S933I	ENSP00000439189:S933I	S	+	2	0	AC131180.1	131738296	1.000000	0.71417	0.525000	0.27900	0.530000	0.34684	2.938000	0.48987	0.119000	0.18210	0.121000	0.15741	AGC		0.617	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		56	195	1	0	1.53134e-21	0.00361	2.57882e-21	56	195				
LOC401010	401010	broad.mit.edu	37	2	132201684	132201684	+	IGR	SNP	T	T	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:132201684T>C								AC073869.19 (35062 upstream) : RP11-109E12.1 (17709 downstream)																							ACACTAGCTGTATGACCGAGC	0.622																																							uc002tst.2		NA																	0					0						c.(316-318)ATA>ATG		SubName: Full=cDNA FLJ12694 fis, clone NT2RP1000358, highly similar to Homo sapiens mRNA; cDNA DKFZp564C186 (from clone DKFZp564C186);																																				SO:0001628	intergenic_variant	401010							g.chr2:132201684T>C																													2.37:g.132201684T>C							p.I106M	NR_002826						1	784	-									Missense_Mutation	SNP		37	c.318A>G																																																																																				0	0.622									7	17	0	0	0	0.000978	0	7	17				
R3HDM1	23518	broad.mit.edu	37	2	136437836	136437836	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:136437836A>T	ENST00000264160.4	+	20	2666	c.2296A>T	c.(2296-2298)Aca>Tca	p.T766S	R3HDM1_ENST00000409606.1_Missense_Mutation_p.T767S|R3HDM1_ENST00000410054.1_Missense_Mutation_p.T711S|R3HDM1_ENST00000329971.3_Missense_Mutation_p.T637S|R3HDM1_ENST00000409478.1_Missense_Mutation_p.T638S	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	766							poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		ATCTATGCCCACAACAGGAAT	0.403																																							uc002tuo.2		NA																	0				skin(1)	1						c.(2296-2298)ACA>TCA		R3H domain containing 1							133.0	127.0	129.0					2																	136437836		2203	4300	6503	SO:0001583	missense	23518						nucleic acid binding	g.chr2:136437836A>T	D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing"""	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.2296A>T	2.37:g.136437836A>T	ENSP00000264160:p.Thr766Ser					R3HDM1_uc010fni.2_Missense_Mutation_p.T765S|R3HDM1_uc002tup.2_Missense_Mutation_p.T711S|R3HDM1_uc010zbh.1_Missense_Mutation_p.T514S	p.T766S	NM_015361	NP_056176	Q15032	R3HD1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.127)	20	2666	+			766					A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Missense_Mutation	SNP	ENST00000264160.4	37	c.2296A>T	CCDS2177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.26|11.26	1.585688|1.585688	0.28268|0.28268	.|.	.|.	ENSG00000048991|ENSG00000048991	ENST00000429703|ENST00000409478;ENST00000264160;ENST00000329971;ENST00000410054;ENST00000409606	.|T;T;T;T;T	.|0.34859	.|1.34;1.34;1.34;1.34;1.34	5.99|5.99	3.64|3.64	0.41730|0.41730	.|.	.|0.445664	.|0.26072	.|N	.|0.026503	T|T	0.27419|0.27419	0.0673|0.0673	L|L	0.45581|0.45581	1.43|1.43	0.34169|0.34169	D|D	0.669551|0.669551	.|P;B;B;B	.|0.40230	.|0.708;0.001;0.044;0.012	.|B;B;B;B	.|0.37480	.|0.251;0.003;0.024;0.014	T|T	0.33214|0.33214	-0.9877|-0.9877	5|10	.|0.21540	.|T	.|0.41	-0.5549|-0.5549	8.3364|8.3364	0.32217|0.32217	0.7202:0.0:0.2798:0.0|0.7202:0.0:0.2798:0.0	.|.	.|638;767;711;766	.|G5E9G8;E9PBB4;E9PG42;Q15032	.|.;.;.;R3HD1_HUMAN	L|S	489|638;766;637;711;767	.|ENSP00000386457:T638S;ENSP00000264160:T766S;ENSP00000331396:T637S;ENSP00000386877:T711S;ENSP00000387010:T767S	.|ENSP00000264160:T766S	H|T	+|+	2|1	0|0	R3HDM1|R3HDM1	136154306|136154306	0.998000|0.998000	0.40836|0.40836	0.902000|0.902000	0.35471|0.35471	0.895000|0.895000	0.52256|0.52256	0.995000|0.995000	0.29706|0.29706	0.524000|0.524000	0.28502|0.28502	0.533000|0.533000	0.62120|0.62120	CAC|ACA		0.403	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	NM_015361		48	57	0	0	0	0.00361	0	48	57				
SPOPL	339745	broad.mit.edu	37	2	139322383	139322383	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:139322383G>A	ENST00000280098.4	+	9	1322	c.943G>A	c.(943-945)Gaa>Aaa	p.E315K		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	315					negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		GCACAGTGCAGAACAGTTGAA	0.403																																							uc002tvh.2		NA																	0				skin(2)|breast(1)	3						c.(943-945)GAA>AAA		speckle-type POZ protein-like							158.0	152.0	154.0					2																	139322383		2203	4300	6503	SO:0001583	missense	339745					nucleus		g.chr2:139322383G>A		CCDS33298.1	2q22.1	2013-01-09			ENSG00000144228	ENSG00000144228		"""BTB/POZ domain containing"""	27934	protein-coding gene	gene with protein product	"""HIB homolog 2"", ""roadkill homolog 2"""						Standard	NM_001001664		Approved	BTBD33	uc002tvh.3	Q6IQ16	OTTHUMG00000153635	ENST00000280098.4:c.943G>A	2.37:g.139322383G>A	ENSP00000280098:p.Glu315Lys						p.E315K	NM_001001664	NP_001001664	Q6IQ16	SPOPL_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0296)	9	1343	+			315						Missense_Mutation	SNP	ENST00000280098.4	37	c.943G>A	CCDS33298.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.677486	0.68042	.	.	ENSG00000144228	ENST00000280098	T	0.70399	-0.48	5.36	4.49	0.54785	.	0.043514	0.85682	D	0.000000	T	0.63438	0.2511	L	0.46670	1.46	0.80722	D	1	B	0.28439	0.212	B	0.27380	0.079	T	0.59721	-0.7401	9	.	.	.	-1.6386	14.6204	0.68579	0.0706:0.0:0.9294:0.0	.	315	Q6IQ16	SPOPL_HUMAN	K	315	ENSP00000280098:E315K	.	E	+	1	0	SPOPL	139038853	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.813000	0.99286	1.417000	0.47077	-0.119000	0.15052	GAA		0.403	SPOPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331897.1			42	126	0	0	0	0.002852	0	42	126				
LRP1B	53353	broad.mit.edu	37	2	141110584	141110584	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:141110584C>G	ENST00000389484.3	-	76	12559	c.11588G>C	c.(11587-11589)gGa>gCa	p.G3863A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3863	EGF-like 15. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTTATATGATCCTTCCACATT	0.338										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(11587-11589)GGA>GCA		low density lipoprotein-related protein 1B							168.0	167.0	167.0					2																	141110584		2203	4299	6502	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141110584C>G	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.11588G>C	2.37:g.141110584C>G	ENSP00000374135:p.Gly3863Ala	TSP Lung(27;0.18)					p.G3863A	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	76	12560	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3863			Extracellular (Potential).|EGF-like 9.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.11588G>C	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.2|28.2	4.898505|4.898505	0.91962|0.91962	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000437977|ENST00000389484;ENST00000544579	.|D	.|0.97256	.|-4.31	5.6|5.6	5.6|5.6	0.85130|0.85130	.|EGF-like calcium-binding, conserved site (1);Growth factor, receptor (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.|0.143621	.|0.46145	.|D	.|0.000317	D|D	0.98918|0.98918	0.9633|0.9633	M|M	0.94063|0.94063	3.49|3.49	0.58432|0.58432	D|D	0.999991|0.999991	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.98850|0.98850	1.0758|1.0758	5|10	.|0.49607	.|T	.|0.09	.|.	19.9709|19.9709	0.97285|0.97285	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|3863	.|Q9NZR2	.|LRP1B_HUMAN	H|A	95|3863;3801	.|ENSP00000374135:G3863A	.|ENSP00000374135:G3863A	D|G	-|-	1|2	0|0	LRP1B|LRP1B	140827054|140827054	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.114000|7.114000	0.77103|0.77103	2.796000|2.796000	0.96246|0.96246	0.591000|0.591000	0.81541|0.81541	GAT|GGA		0.338	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		31	73	0	0	0	0.003271	0	31	73				
LRP1B	53353	broad.mit.edu	37	2	141202233	141202233	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:141202233T>G	ENST00000389484.3	-	64	11044	c.10073A>C	c.(10072-10074)cAg>cCg	p.Q3358P		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3358	LDL-receptor class A 22. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCGGCCTGGCTGACATCTAAA	0.408										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(10072-10074)CAG>CCG		low density lipoprotein-related protein 1B							81.0	76.0	78.0					2																	141202233		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141202233T>G	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.10073A>C	2.37:g.141202233T>G	ENSP00000374135:p.Gln3358Pro	TSP Lung(27;0.18)					p.Q3358P	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	64	11045	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3358			Extracellular (Potential).|LDL-receptor class A 22.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.10073A>C	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	16.16	3.043988	0.55110	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95622	-3.76	5.85	5.85	0.93711	.	0.000000	0.64402	D	0.000001	D	0.91543	0.7329	N	0.03016	-0.435	0.52099	D	0.999943	D	0.61080	0.989	P	0.60415	0.874	D	0.90481	0.4460	10	0.27082	T	0.32	.	10.5491	0.45077	0.0:0.0717:0.0:0.9283	.	3358	Q9NZR2	LRP1B_HUMAN	P	3358;3296	ENSP00000374135:Q3358P	ENSP00000374135:Q3358P	Q	-	2	0	LRP1B	140918703	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.503000	0.53340	2.234000	0.73211	0.460000	0.39030	CAG		0.408	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		12	69	0	0	0	0.00245	0	12	69				
LRP1B	53353	broad.mit.edu	37	2	141260667	141260667	+	Silent	SNP	G	G	T	rs529890891	byFrequency	TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:141260667G>T	ENST00000389484.3	-	54	9498	c.8527C>A	c.(8527-8529)Cga>Aga	p.R2843R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2843					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.R2843R(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCACACTGTCGATATCCTAGA	0.398										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(8527-8529)CGA>AGA		low density lipoprotein-related protein 1B							119.0	111.0	113.0					2																	141260667		2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141260667G>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.8527C>A	2.37:g.141260667G>T		TSP Lung(27;0.18)					p.R2843R	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	54	9499	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2843			Extracellular (Potential).		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.8527C>A	CCDS2182.1																																																																																				0.398	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		4	49	1	0	0.00116845	0.001168	0.00126823	4	49				
LRP1B	53353	broad.mit.edu	37	2	141680656	141680656	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:141680656C>A	ENST00000389484.3	-	21	4168	c.3197G>T	c.(3196-3198)tGc>tTc	p.C1066F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1066	LDL-receptor class A 8. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATCAGGAACGCAATTACCATC	0.438										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(3196-3198)TGC>TTC		low density lipoprotein-related protein 1B							159.0	139.0	146.0					2																	141680656		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141680656C>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.3197G>T	2.37:g.141680656C>A	ENSP00000374135:p.Cys1066Phe	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Missense_Mutation_p.C248F	p.C1066F	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	21	4169	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1066			Extracellular (Potential).|LDL-receptor class A 8.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.3197G>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.346309	0.82022	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.99919	-8.0;-8.0	5.19	5.19	0.71726	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	U	0.000000	D	0.99945	0.9976	H	0.96398	3.815	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.85130	0.991;0.997	D	0.95925	0.8934	10	0.87932	D	0	.	18.7123	0.91662	0.0:1.0:0.0:0.0	.	249;1066	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	F	1066;1004;211	ENSP00000374135:C1066F;ENSP00000413239:C211F	ENSP00000374135:C1066F	C	-	2	0	LRP1B	141397126	1.000000	0.71417	0.999000	0.59377	0.843000	0.47879	7.399000	0.79935	2.419000	0.82065	0.557000	0.71058	TGC		0.438	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		10	58	1	0	3.86212e-05	0.008291	4.42789e-05	10	58				
ZEB2	9839	broad.mit.edu	37	2	145161502	145161502	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:145161502T>C	ENST00000558170.2	-	6	1972	c.788A>G	c.(787-789)cAc>cGc	p.H263R	ZEB2_ENST00000409487.3_Missense_Mutation_p.H263R|ZEB2_ENST00000303660.4_Missense_Mutation_p.H263R|ZEB2_ENST00000539609.3_Missense_Mutation_p.H239R	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	263					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CCCTGGCTTGTGTGTCACCAT	0.458																																					Melanoma(33;1235 1264 5755 16332)	Melanoma(33;1235 1264 5755 16332)	uc002tvu.2		NA																	0				ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9						c.(787-789)CAC>CGC		zinc finger homeobox 1b							177.0	175.0	176.0					2																	145161502		2203	4300	6503	SO:0001583	missense	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145161502T>C	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.788A>G	2.37:g.145161502T>C	ENSP00000454157:p.His263Arg					ZEB2_uc002tvv.2_Missense_Mutation_p.H257R|ZEB2_uc010zbm.1_Missense_Mutation_p.H234R|ZEB2_uc010fnp.2_Missense_Mutation_p.H171R|ZEB2_uc010fnq.1_Missense_Mutation_p.H292R	p.H263R	NM_014795	NP_055610	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	6	1268	-			263			C2H2-type 2.		A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	c.788A>G	CCDS2186.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.43|17.43	3.387015|3.387015	0.61956|0.61956	.|.	.|.	ENSG00000169554|ENSG00000169554	ENST00000392860;ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902;ENST00000392861|ENST00000419938	D;D;D;D;D|.	0.88975|.	-2.45;-2.45;-2.45;-2.45;-2.45|.	5.73|5.73	5.73|5.73	0.89815|0.89815	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.80303|0.80303	0.4598|0.4598	M|M	0.87682|0.87682	2.9|2.9	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	0.999;1.0;0.987;0.991;0.968|.	D;D;D;D;D|.	0.91635|.	0.998;0.999;0.979;0.991;0.969|.	T|T	0.83160|0.83160	-0.0099|-0.0099	10|5	0.87932|.	D|.	0|.	-11.7538|-11.7538	16.0174|16.0174	0.80450|0.80450	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	239;128;239;262;263|.	F5H814;Q53TD9;B7Z2P2;A0JP08;O60315|.	.;.;.;.;ZEB2_HUMAN|.	R|A	258;239;263;263;263;263|152	ENSP00000443792:H239R;ENSP00000302501:H263R;ENSP00000386854:H263R;ENSP00000395496:H263R;ENSP00000376601:H263R|.	ENSP00000302501:H263R|.	H|T	-|-	2|1	0|0	ZEB2|ZEB2	144877972|144877972	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.698000|7.698000	0.84413|0.84413	2.186000|2.186000	0.69663|0.69663	0.533000|0.533000	0.62120|0.62120	CAC|ACA		0.458	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		102	93	0	0	0	0.00361	0	102	93				
TNFAIP6	7130	broad.mit.edu	37	2	152220529	152220529	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:152220529C>A	ENST00000243347.3	+	2	242	c.167C>A	c.(166-168)gCg>gAg	p.A56E		NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	56	Link. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)		hyaluronic acid binding (GO:0005540)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)	Hyaluronan(DB08818)	GAAGCTAAGGCGGTGTGTGAA	0.448																																							uc002txk.2		NA																	0					0						c.(166-168)GCG>GAG		tumor necrosis factor, alpha-induced protein 6							79.0	74.0	76.0					2																	152220529		2203	4300	6503	SO:0001583	missense	7130				cell adhesion|cell-cell signaling|inflammatory response|signal transduction		hyaluronic acid binding	g.chr2:152220529C>A		CCDS2193.1	2q23.3	2008-11-18			ENSG00000123610	ENSG00000123610			11898	protein-coding gene	gene with protein product		600410				1730767, 8568267, 15060082	Standard	NM_007115		Approved	TSG6, TSG-6	uc002txk.3	P98066	OTTHUMG00000131884	ENST00000243347.3:c.167C>A	2.37:g.152220529C>A	ENSP00000243347:p.Ala56Glu						p.A56E	NM_007115	NP_009046	P98066	TSG6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.131)	2	243	+			56			Link.		Q53TI7|Q8WWI9	Missense_Mutation	SNP	ENST00000243347.3	37	c.167C>A	CCDS2193.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274575	0.59649	.	.	ENSG00000123610	ENST00000243347	T	0.27890	1.64	5.85	4.98	0.66077	C-type lectin fold (1);Link (4);C-type lectin-like (1);	0.046872	0.85682	D	0.000000	T	0.19644	0.0472	N	0.02765	-0.5	0.80722	D	1	P	0.43938	0.822	P	0.48815	0.591	T	0.13872	-1.0493	10	0.12766	T	0.61	.	14.937	0.70964	0.0:0.9315:0.0:0.0685	.	56	P98066	TSG6_HUMAN	E	56	ENSP00000243347:A56E	ENSP00000243347:A56E	A	+	2	0	TNFAIP6	151928775	1.000000	0.71417	0.897000	0.35233	0.855000	0.48748	5.511000	0.67024	1.487000	0.48415	-0.142000	0.14014	GCG		0.448	TNFAIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254834.2	NM_007115		7	64	1	0	2.0095e-06	0.001984	2.44928e-06	7	64				
NEB	4703	broad.mit.edu	37	2	152420221	152420221	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:152420221C>G	ENST00000172853.10	-	91	13636	c.13489G>C	c.(13489-13491)Gag>Cag	p.E4497Q	NEB_ENST00000397345.3_Missense_Mutation_p.E6198Q|NEB_ENST00000409198.1_Missense_Mutation_p.E4497Q|NEB_ENST00000427231.2_Missense_Mutation_p.E6198Q|NEB_ENST00000603639.1_Missense_Mutation_p.E6198Q|NEB_ENST00000604864.1_Missense_Mutation_p.E6198Q			P20929	NEBU_HUMAN	nebulin	4497					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCATATGTCTCTTTGTATTTA	0.448																																							uc010fnx.2		NA																	0				ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(13489-13491)GAG>CAG		nebulin isoform 3							264.0	246.0	252.0					2																	152420221		1881	4106	5987	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152420221C>G	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.13489G>C	2.37:g.152420221C>G	ENSP00000172853:p.Glu4497Gln					NEB_uc002txr.2_Missense_Mutation_p.E920Q	p.E4497Q	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	91	13680	-			4497			Nebulin 123.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.13489G>C		.	.	.	.	.	.	.	.	.	.	C	30	5.051468	0.93793	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.58060	0.36;0.36;0.36;0.36;0.36	5.54	5.54	0.83059	.	0.046536	0.85682	D	0.000000	T	0.70448	0.3225	L	0.59912	1.85	0.80722	D	1	D;D	0.63046	0.986;0.992	D;D	0.75020	0.98;0.985	T	0.67910	-0.5548	10	0.45353	T	0.12	.	19.8426	0.96695	0.0:1.0:0.0:0.0	.	4497;928	P20929;Q14215	NEBU_HUMAN;.	Q	4497;6198;6198;546;928;4497	ENSP00000386259:E4497Q;ENSP00000380505:E6198Q;ENSP00000416578:E6198Q;ENSP00000410961:E928Q;ENSP00000172853:E4497Q	ENSP00000172853:E4497Q	E	-	1	0	NEB	152128467	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.776000	0.85560	2.765000	0.95021	0.557000	0.71058	GAG		0.448	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		65	155	0	0	0	0.00361	0	65	155				
NEB	4703	broad.mit.edu	37	2	152500419	152500419	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:152500419G>T	ENST00000172853.10	-	57	8016	c.7869C>A	c.(7867-7869)gaC>gaA	p.D2623E	NEB_ENST00000397345.3_Missense_Mutation_p.D2623E|NEB_ENST00000409198.1_Missense_Mutation_p.D2623E|NEB_ENST00000427231.2_Missense_Mutation_p.D2623E|NEB_ENST00000603639.1_Missense_Mutation_p.D2623E|NEB_ENST00000604864.1_Missense_Mutation_p.D2623E			P20929	NEBU_HUMAN	nebulin	2623					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGTTCTTGTAGTCCACGTCGC	0.552																																							uc010fnx.2		NA																	0				ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(7867-7869)GAC>GAA		nebulin isoform 3							289.0	277.0	281.0					2																	152500419		2067	4204	6271	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152500419G>T	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.7869C>A	2.37:g.152500419G>T	ENSP00000172853:p.Asp2623Glu						p.D2623E	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	57	8060	-			2623			Nebulin 70.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.7869C>A		.	.	.	.	.	.	.	.	.	.	G	20.5	4.008505	0.75046	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.77	2.59	0.31030	.	0.053363	0.64402	D	0.000001	T	0.52354	0.1729	M	0.69823	2.125	0.80722	D	1	D	0.53885	0.963	P	0.56960	0.81	T	0.49082	-0.8976	10	0.35671	T	0.21	.	9.0444	0.36338	0.3469:0.0:0.6531:0.0	.	2623	P20929	NEBU_HUMAN	E	2623	ENSP00000386259:D2623E;ENSP00000380505:D2623E;ENSP00000416578:D2623E;ENSP00000172853:D2623E	ENSP00000172853:D2623E	D	-	3	2	NEB	152208665	1.000000	0.71417	0.994000	0.49952	0.991000	0.79684	2.413000	0.44618	0.798000	0.33994	0.557000	0.71058	GAC		0.552	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		62	224	1	0	1.33661e-31	0.00361	2.386e-31	62	224				
STAM2	10254	broad.mit.edu	37	2	152989690	152989690	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:152989690C>T	ENST00000263904.4	-	10	1316	c.967G>A	c.(967-969)Gaa>Aaa	p.E323K		NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	323					endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		TAAGTACCTTCTAAATCCAAA	0.333																																							uc002tyc.3		NA																	0				ovary(1)	1						c.(967-969)GAA>AAA		signal transducing adaptor molecule 2							77.0	79.0	79.0					2																	152989690		2199	4299	6498	SO:0001583	missense	10254				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding	g.chr2:152989690C>T	AF042274	CCDS2196.1	2q23.3	2009-04-29			ENSG00000115145	ENSG00000115145			11358	protein-coding gene	gene with protein product	"""HSE1 homolog (S. cerevisiae)"""	606244				10899310, 10993906	Standard	NM_005843		Approved	Hbp	uc002tyc.4	O75886	OTTHUMG00000131885	ENST00000263904.4:c.967G>A	2.37:g.152989690C>T	ENSP00000263904:p.Glu323Lys					STAM2_uc010foa.1_Missense_Mutation_p.E323K|STAM2_uc002tyd.2_Missense_Mutation_p.E323K	p.E323K	NM_005843	NP_005834	O75886	STAM2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.22)	10	1317	-			323					A8K8A0|D3DPA1|Q7LDQ0|Q9UF58	Missense_Mutation	SNP	ENST00000263904.4	37	c.967G>A	CCDS2196.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.682731	0.88542	.	.	ENSG00000115145	ENST00000263904	T	0.22743	1.94	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.54143	0.1840	M	0.88310	2.945	0.80722	D	1	D;D	0.71674	0.997;0.998	D;P	0.67231	0.95;0.882	T	0.56062	-0.8041	10	0.40728	T	0.16	.	20.024	0.97514	0.0:1.0:0.0:0.0	.	323;323	O75886-2;O75886	.;STAM2_HUMAN	K	323	ENSP00000263904:E323K	ENSP00000263904:E323K	E	-	1	0	STAM2	152697936	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.110000	0.77069	2.718000	0.92993	0.655000	0.94253	GAA		0.333	STAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254835.2	NM_005843		9	61	0	0	0	0.008291	0	9	61				
GALNT13	114805	broad.mit.edu	37	2	155295238	155295238	+	Splice_Site	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:155295238G>T	ENST00000392825.3	+	12	2097	c.1530G>T	c.(1528-1530)gaG>gaT	p.E510D	AC009227.2_ENST00000434635.1_RNA|GALNT13_ENST00000409237.1_Splice_Site_p.E510D	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	510	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						ATGATGCTGAGGTATAGTATT	0.318																																							uc002tyr.3		NA																	0				ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						c.(1528-1530)GAG>GAT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							104.0	108.0	106.0					2																	155295238		2203	4300	6503	SO:0001630	splice_region_variant	114805					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:155295238G>T	AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.1530+1G>T	2.37:g.155295238G>T						GALNT13_uc002tyt.3_Missense_Mutation_p.E510D|GALNT13_uc010fod.2_3'UTR|uc002tyu.1_Intron	p.E510D	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN			12	2097	+			510			Ricin B-type lectin.|Lumenal (Potential).		Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Missense_Mutation	SNP	ENST00000392825.3	37	c.1530G>T	CCDS2199.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.98|15.98	2.991324|2.991324	0.54041|0.54041	.|.	.|.	ENSG00000144278|ENSG00000144278	ENST00000392825;ENST00000409237;ENST00000453715|ENST00000450838	T;T|.	0.75367|.	-0.93;1.74|.	5.61|5.61	5.61|5.61	0.85477|0.85477	Ricin B-related lectin (1);Ricin B lectin (3);|.	0.693058|0.693058	0.15449|0.15449	N|N	0.261796|0.261796	T|.	0.40956|.	0.1138|.	N|N	0.05158|0.05158	-0.105|-0.105	0.44030|0.44030	D|D	0.996751|0.996751	B;B|.	0.12013|.	0.005;0.003|.	B;B|.	0.21151|.	0.033;0.013|.	T|.	0.35450|.	-0.9788|.	10|.	0.08837|0.23891	T|T	0.75|0.37	.|.	17.1284|17.1284	0.86720|0.86720	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	510;510|.	Q08ER7;Q8IUC8|.	.;GLT13_HUMAN|.	D|X	510;510;45|96	ENSP00000376570:E510D;ENSP00000387239:E510D|.	ENSP00000376570:E510D|ENSP00000406237:E96X	E|E	+|+	3|1	2|0	GALNT13|GALNT13	155003484|155003484	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.965000|0.965000	0.64279|0.64279	9.676000|9.676000	0.98643|0.98643	2.641000|2.641000	0.89580|0.89580	0.655000|0.655000	0.94253|0.94253	GAG|GAG		0.318	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917	Missense_Mutation	8	64	1	0	6.40141e-05	0.000978	7.28859e-05	8	64				
PKP4	8502	broad.mit.edu	37	2	159477908	159477908	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:159477908G>C	ENST00000389759.3	+	6	690	c.578G>C	c.(577-579)aGa>aCa	p.R193T	PKP4_ENST00000389757.3_Missense_Mutation_p.R193T	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	193					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)		p.R193T(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						AGGAATTCAAGAGCTGAAGGA	0.493										HNSCC(62;0.18)																													uc002tzv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(2)	7						c.(577-579)AGA>ACA		plakophilin 4 isoform a							98.0	84.0	88.0					2																	159477908		2203	4300	6503	SO:0001583	missense	8502				cell adhesion	desmosome	protein binding	g.chr2:159477908G>C	X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.578G>C	2.37:g.159477908G>C	ENSP00000374409:p.Arg193Thr	HNSCC(62;0.18)				PKP4_uc002tzt.1_Missense_Mutation_p.R45T|PKP4_uc002tzu.2_Missense_Mutation_p.R193T|PKP4_uc002tzw.2_Missense_Mutation_p.R193T|PKP4_uc002tzx.2_5'UTR|PKP4_uc002tzy.1_5'UTR|PKP4_uc002tzz.1_Missense_Mutation_p.R191T|PKP4_uc002uaa.2_Missense_Mutation_p.R45T	p.R193T	NM_003628	NP_003619	Q99569	PKP4_HUMAN			6	838	+			193					Q86W91	Missense_Mutation	SNP	ENST00000389759.3	37	c.578G>C	CCDS33305.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.710932	0.89112	.	.	ENSG00000144283	ENST00000428353;ENST00000389757;ENST00000389759	T;T	0.75938	-0.98;-0.98	4.86	4.86	0.63082	.	0.327766	0.33534	N	0.004816	D	0.83926	0.5360	L	0.53249	1.67	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.996;0.996;0.998	D	0.85280	0.1061	10	0.62326	D	0.03	-13.7844	18.3448	0.90318	0.0:0.0:1.0:0.0	.	45;193;193;45	Q6LCG8;Q99569-2;Q99569;F8W7E2	.;.;PKP4_HUMAN;.	T	45;193;193	ENSP00000374407:R193T;ENSP00000374409:R193T	ENSP00000374407:R193T	R	+	2	0	PKP4	159186154	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.469000	0.80959	2.417000	0.82017	0.655000	0.94253	AGA		0.493	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			14	22	0	0	0	0.004007	0	14	22				
TANC1	85461	broad.mit.edu	37	2	160035567	160035567	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:160035567C>T	ENST00000263635.6	+	14	2640	c.2403C>T	c.(2401-2403)ttC>ttT	p.F801F	TANC1_ENST00000454300.1_Silent_p.F695F	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	801					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TCTCCTGCTTCCTCATTAAGA	0.557																																							uc002uag.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(2401-2403)TTC>TTT		tetratricopeptide repeat, ankyrin repeat and							99.0	105.0	103.0					2																	160035567		1992	4161	6153	SO:0001819	synonymous_variant	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160035567C>T	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.2403C>T	2.37:g.160035567C>T						TANC1_uc010fol.1_Silent_p.F695F|TANC1_uc010zcm.1_Silent_p.F793F|TANC1_uc010fom.1_Silent_p.F607F|TANC1_uc002uai.1_RNA	p.F801F	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN			14	2677	+			801					C9JD88|Q49AI8	Silent	SNP	ENST00000263635.6	37	c.2403C>T	CCDS42766.1																																																																																				0.557	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			33	92	0	0	0	0.002836	0	33	92				
TBR1	10716	broad.mit.edu	37	2	162279953	162279953	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:162279953G>T	ENST00000389554.3	+	6	1581	c.1264G>T	c.(1264-1266)Ggg>Tgg	p.G422W	TBR1_ENST00000410035.1_Missense_Mutation_p.G135W|AC009487.5_ENST00000505579.1_RNA|AC009487.4_ENST00000437683.1_RNA|AC009487.4_ENST00000444164.1_RNA|TBR1_ENST00000489530.1_3'UTR	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	422					axon guidance (GO:0007411)|brain development (GO:0007420)|hindbrain development (GO:0030902)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of neuron projection development (GO:0010975)|specification of organ identity (GO:0010092)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						GATCGTGCCCGGGGCCCGCTA	0.711																																							uc002ubw.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1264-1266)GGG>TGG		T-box, brain, 1							19.0	21.0	20.0					2																	162279953		1918	3977	5895	SO:0001583	missense	10716					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:162279953G>T	U49250	CCDS33310.1	2q24.2	2011-06-13			ENSG00000136535	ENSG00000136535		"""T-boxes"""	11590	protein-coding gene	gene with protein product		604616				7619531	Standard	NM_006593		Approved		uc002ubw.1	Q16650	OTTHUMG00000153888	ENST00000389554.3:c.1264G>T	2.37:g.162279953G>T	ENSP00000374205:p.Gly422Trp					TBR1_uc010foy.2_Missense_Mutation_p.G135W	p.G422W	NM_006593	NP_006584	Q16650	TBR1_HUMAN			6	1566	+			422					B0AZS4|B2R6G5|Q14DC5|Q53TH0|Q56A81	Missense_Mutation	SNP	ENST00000389554.3	37	c.1264G>T	CCDS33310.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.103400	0.76983	.	.	ENSG00000136535	ENST00000389554;ENST00000411412;ENST00000410035	D;D;D	0.89415	-2.51;-1.66;-1.79	3.67	3.67	0.42095	.	0.293480	0.30959	N	0.008527	D	0.93446	0.7909	M	0.72353	2.195	0.58432	D	0.999997	D	0.76494	0.999	D	0.77557	0.99	D	0.94285	0.7523	10	0.66056	D	0.02	.	15.6293	0.76888	0.0:0.0:1.0:0.0	.	422	Q16650	TBR1_HUMAN	W	422;157;135	ENSP00000374205:G422W;ENSP00000393934:G157W;ENSP00000387023:G135W	ENSP00000374205:G422W	G	+	1	0	TBR1	161988199	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.288000	0.78691	1.913000	0.55393	0.306000	0.20318	GGG		0.711	TBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332845.1	NM_006593		40	23	1	0	4.14194e-30	0.002852	7.34971e-30	40	23				
COBLL1	22837	broad.mit.edu	37	2	165559624	165559624	+	Silent	SNP	T	T	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:165559624T>C	ENST00000392717.2	-	10	1450	c.1446A>G	c.(1444-1446)acA>acG	p.T482T	COBLL1_ENST00000409184.3_Intron|COBLL1_ENST00000375458.2_Intron|COBLL1_ENST00000194871.6_Silent_p.T510T|COBLL1_ENST00000342193.4_Silent_p.T444T|COBLL1_ENST00000491126.2_Intron			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	482						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						ATGTCAATGATGTTATGGCTG	0.502																																							uc010zcw.1		NA																	0				ovary(2)|pancreas(1)	3						c.(1528-1530)ACA>ACG		COBL-like 1							185.0	172.0	177.0					2																	165559624		2203	4300	6503	SO:0001819	synonymous_variant	22837							g.chr2:165559624T>C	AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.1446A>G	2.37:g.165559624T>C						COBLL1_uc002ucp.2_Silent_p.T444T|COBLL1_uc002ucq.2_Intron|COBLL1_uc010zcx.1_Intron|COBLL1_uc002ucs.1_RNA|COBLL1_uc002uco.2_Intron	p.T510T	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN			12	1654	-			482					A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Silent	SNP	ENST00000392717.2	37	c.1530A>G																																																																																					0.502	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900		131	144	0	0	0	0.00361	0	131	144				
TTC21B	79809	broad.mit.edu	37	2	166747379	166747379	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:166747379C>T	ENST00000243344.7	-	23	3207	c.3070G>A	c.(3070-3072)Gga>Aga	p.G1024R	TTC21B_ENST00000536175.1_5'Flank	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	1024					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TACTGAAATCCTGGTTCCAAT	0.333																																							uc002udk.2		NA																	0				ovary(2)|pancreas(2)|breast(1)	5						c.(3070-3072)GGA>AGA		tetratricopeptide repeat domain 21B							57.0	61.0	60.0					2																	166747379		2203	4300	6503	SO:0001583	missense	79809					cilium axoneme|cytoplasm|cytoskeleton	binding	g.chr2:166747379C>T	AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.3070G>A	2.37:g.166747379C>T	ENSP00000243344:p.Gly1024Arg					TTC21B_uc002udj.1_RNA	p.G1024R	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN			23	3203	-			1024			TPR 16.		A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	ENST00000243344.7	37	c.3070G>A	CCDS33315.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.670604	0.67814	.	.	ENSG00000123607	ENST00000243344	T	0.62941	-0.01	5.46	5.46	0.80206	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.84306	0.5443	M	0.91140	3.18	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87634	0.2518	10	0.87932	D	0	-25.1759	19.3032	0.94151	0.0:1.0:0.0:0.0	.	1024	Q7Z4L5	TT21B_HUMAN	R	1024	ENSP00000243344:G1024R	ENSP00000243344:G1024R	G	-	1	0	TTC21B	166455625	1.000000	0.71417	1.000000	0.80357	0.222000	0.24845	6.044000	0.71012	2.559000	0.86315	0.637000	0.83480	GGA		0.333	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753		6	41	0	0	0	0.001168	0	6	41				
XIRP2	129446	broad.mit.edu	37	2	167992470	167992470	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:167992470G>T	ENST00000409728.1	+	3	549	c.460G>T	c.(460-462)Ggg>Tgg	p.G154W	XIRP2_ENST00000295237.9_Missense_Mutation_p.G154W|XIRP2_ENST00000420519.1_Missense_Mutation_p.G154W|XIRP2_ENST00000409195.1_Missense_Mutation_p.G154W|XIRP2_ENST00000409043.1_Missense_Mutation_p.G154W|XIRP2-AS1_ENST00000525330.1_RNA|XIRP2_ENST00000409756.2_Missense_Mutation_p.G154W	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAGTCACCCTGGGAGCCAGCT	0.433																																							uc002udx.2		NA																	0				skin(7)|ovary(6)|pancreas(1)	14						c.(460-462)GGG>TGG		xin actin-binding repeat containing 2 isoform 1							78.0	80.0	79.0					2																	167992470		1876	4110	5986	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:167992470G>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.460G>T	2.37:g.167992470G>T	ENSP00000386619:p.Gly154Trp					XIRP2_uc010fpn.2_Missense_Mutation_p.G154W|XIRP2_uc010fpo.2_Missense_Mutation_p.G154W|XIRP2_uc010fpp.2_Missense_Mutation_p.G154W|XIRP2_uc002udy.2_5'UTR	p.G154W	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			2	478	+			Error:Variant_position_missing_in_A4UGR9_after_alignment					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409728.1	37	c.460G>T	CCDS56143.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.107035	0.56291	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409195;ENST00000409756;ENST00000420519;ENST00000295237	D;D;T;D;D;T	0.89123	-1.86;-2.47;3.54;-1.86;-2.47;3.54	5.51	1.01	0.19927	.	.	.	.	.	D	0.83207	0.5204	.	.	.	0.25112	N	0.990701	P;P	0.42973	0.796;0.796	B;B	0.39531	0.302;0.302	T	0.73672	-0.3909	8	0.72032	D	0.01	-1.5902	6.8421	0.23969	0.2297:0.0:0.6439:0.1264	.	154;154	A4UGR9-4;A4UGR9-6	.;.	W	154	ENSP00000386454:G154W;ENSP00000386619:G154W;ENSP00000386840:G154W;ENSP00000386724:G154W;ENSP00000415541:G154W;ENSP00000295237:G154W	ENSP00000295237:G154W	G	+	1	0	XIRP2	167700716	0.131000	0.22433	0.915000	0.36163	0.988000	0.76386	0.441000	0.21611	0.266000	0.21894	0.591000	0.81541	GGG		0.433	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381		22	61	1	0	7.88262e-20	0.00333	1.30529e-19	22	61				
XIRP2	129446	broad.mit.edu	37	2	168101740	168101740	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:168101740G>T	ENST00000409195.1	+	9	3927	c.3838G>T	c.(3838-3840)Gag>Tag	p.E1280*	XIRP2_ENST00000295237.9_Nonsense_Mutation_p.E1280*|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Nonsense_Mutation_p.E1058*	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1105					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTTTATTTTTGAGACTTTTTC	0.353																																							uc002udx.2		NA																	0				skin(7)|ovary(6)|pancreas(1)	14						c.(3838-3840)GAG>TAG		xin actin-binding repeat containing 2 isoform 1							131.0	126.0	128.0					2																	168101740		1840	4084	5924	SO:0001587	stop_gained	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168101740G>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.3838G>T	2.37:g.168101740G>T	ENSP00000386840:p.Glu1280*					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Nonsense_Mutation_p.E1105*|XIRP2_uc010fpq.2_Nonsense_Mutation_p.E1058*|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	p.E1280*	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	3856	+			1105			Xin 21.		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Nonsense_Mutation	SNP	ENST00000409195.1	37	c.3838G>T	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	42	9.775551	0.99260	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-17.1364	18.7832	0.91942	0.0:0.0:1.0:0.0	.	.	.	.	X	1280;1280;1058	.	ENSP00000295237:E1280X	E	+	1	0	XIRP2	167809986	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	9.476000	0.97823	2.744000	0.94065	0.563000	0.77884	GAG		0.353	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		4	93	1	0	1.23904e-05	0.000602	1.44506e-05	4	93				
CERS6	253782	broad.mit.edu	37	2	169571583	169571583	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:169571583G>A	ENST00000305747.6	+	7	1269	c.682G>A	c.(682-684)Gcc>Acc	p.A228T	CERS6_ENST00000392687.4_Missense_Mutation_p.A228T	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN	ceramide synthase 6	228	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										CAACAATATGGCCCGAGTAGG	0.363																																							uc002ueb.1		NA																	0				skin(1)	1						c.(682-684)GCC>ACC		longevity assurance homolog 6							221.0	208.0	213.0					2																	169571583		2203	4300	6503	SO:0001583	missense	253782					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr2:169571583G>A	BX393696	CCDS2228.1, CCDS58734.1	2q31	2011-07-11	2011-07-08	2011-07-08	ENSG00000172292	ENSG00000172292		"""Homeoboxes / CERS class"""	23826	protein-coding gene	gene with protein product		615336	"""LAG1 longevity assurance homolog 6 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 6"""	LASS6			Standard	NM_203463		Approved		uc002uec.2	Q6ZMG9	OTTHUMG00000132183	ENST00000305747.6:c.682G>A	2.37:g.169571583G>A	ENSP00000306579:p.Ala228Thr					LASS6_uc002uec.1_Missense_Mutation_p.A228T	p.A228T	NM_203463	NP_982288	Q6ZMG9	CERS6_HUMAN			7	806	+			228			Cytoplasmic (Potential).|TLC.		Q32M63|Q8N617	Missense_Mutation	SNP	ENST00000305747.6	37	c.682G>A	CCDS2228.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.648766	0.47258	.	.	ENSG00000172292	ENST00000305747;ENST00000392687	D;D	0.84516	-1.86;-1.86	5.46	3.43	0.39272	TRAM/LAG1/CLN8 homology domain (3);	0.337573	0.33980	N	0.004362	T	0.65428	0.2690	N	0.12569	0.235	0.44677	D	0.997665	B;B	0.16166	0.016;0.003	B;B	0.16289	0.015;0.015	T	0.53906	-0.8372	10	0.05959	T	0.93	-6.119	6.3094	0.21156	0.1925:0.1471:0.6604:0.0	.	228;228	Q32M63;Q6ZMG9	.;CERS6_HUMAN	T	228	ENSP00000306579:A228T;ENSP00000376453:A228T	ENSP00000306579:A228T	A	+	1	0	CERS6	169279829	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	3.113000	0.50376	0.502000	0.28037	0.655000	0.94253	GCC		0.363	CERS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255235.2	NM_203463		42	46	0	0	0	0.00361	0	42	46				
DCAF17	80067	broad.mit.edu	37	2	172309638	172309638	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:172309638G>C	ENST00000375255.3	+	6	869	c.542G>C	c.(541-543)gGc>gCc	p.G181A	DCAF17_ENST00000539783.1_Missense_Mutation_p.G181A|DCAF17_ENST00000468592.1_3'UTR	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17	181					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						TTCTAGGCAGGCATTCAACAA	0.378																																							uc002ugx.2		NA																	0					0						c.(541-543)GGC>GCC		DDB1 and CUL4 associated factor 17 isoform 1							144.0	135.0	138.0					2																	172309638		1881	4122	6003	SO:0001583	missense	80067					CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus		g.chr2:172309638G>C	AK023158	CCDS2243.2, CCDS54419.1	2q31.1	2014-01-28	2009-07-17	2009-07-17	ENSG00000115827	ENSG00000115827		"""DDB1 and CUL4 associated factors"""	25784	protein-coding gene	gene with protein product	"""Woodhouse-Sakati syndrome"""	612515	"""chromosome 2 open reading frame 37"""	C2orf37			Standard	NM_001164821		Approved	FLJ13096	uc002ugx.3	Q5H9S7	OTTHUMG00000132259	ENST00000375255.3:c.542G>C	2.37:g.172309638G>C	ENSP00000364404:p.Gly181Ala					DCAF17_uc010zdq.1_RNA|DCAF17_uc010fqf.1_Missense_Mutation_p.G181A|DCAF17_uc010zdr.1_RNA|DCAF17_uc010fqg.2_5'UTR	p.G181A	NM_025000	NP_079276	Q5H9S7	DCA17_HUMAN			6	771	+			181					B2RTW5|Q53TN3|Q9H908	Missense_Mutation	SNP	ENST00000375255.3	37	c.542G>C	CCDS2243.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.7|24.7	4.555193|4.555193	0.86231|0.86231	.|.	.|.	ENSG00000115827|ENSG00000115827	ENST00000375255;ENST00000539783;ENST00000339506|ENST00000429466	T;T|.	0.58652|.	0.32;0.32|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74581|0.74581	0.3735|0.3735	L|L	0.60455|0.60455	1.87|1.87	0.53688|0.53688	D|D	0.99997|0.99997	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.91635|.	0.999;0.998|.	T|T	0.76266|0.76266	-0.3022|-0.3022	9|6	.|0.87932	.|D	.|0	-12.2225|-12.2225	19.1175|19.1175	0.93348|0.93348	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	181;181|.	F5H7W1;Q5H9S7|.	.;DCA17_HUMAN|.	A|S	181;181;2|1	ENSP00000364404:G181A;ENSP00000442238:G181A|.	.|ENSP00000389290:R1S	G|R	+|+	2|3	0|2	DCAF17|DCAF17	172017884|172017884	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.984000|0.984000	0.73092|0.73092	5.092000|5.092000	0.64511|0.64511	2.625000|2.625000	0.88918|0.88918	0.585000|0.585000	0.79938|0.79938	GGC|AGG		0.378	DCAF17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255342.2	NM_025000		4	63	0	0	0	0.001168	0	4	63				
RAPGEF4	11069	broad.mit.edu	37	2	173855632	173855632	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:173855632G>C	ENST00000397081.3	+	15	1612	c.1469G>C	c.(1468-1470)gGa>gCa	p.G490A	RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.G346A|RAPGEF4_ENST00000264111.6_Missense_Mutation_p.G489A|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.G319A|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.G490A|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.G270A|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.G337A|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.G337A	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	490					blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TCTAATCAAGGAAACTCACAG	0.433																																							uc002uhv.3		NA																	0				large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	6						c.(1468-1470)GGA>GCA		Rap guanine nucleotide exchange factor (GEF) 4							113.0	111.0	112.0					2																	173855632		1970	4165	6135	SO:0001583	missense	11069				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity	g.chr2:173855632G>C	U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"""cAMP-regulated guanine nucleotide exchange factor II"", "" exchange protein directly activated by cAMP 2"""	606058	"""RAP guanine-nucleotide-exchange factor (GEF) 4"""			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.1469G>C	2.37:g.173855632G>C	ENSP00000380271:p.Gly490Ala					RAPGEF4_uc002uhw.3_Missense_Mutation_p.G346A|RAPGEF4_uc010zec.1_Missense_Mutation_p.G337A|RAPGEF4_uc010zed.1_Missense_Mutation_p.G319A|RAPGEF4_uc010zee.1_Missense_Mutation_p.G337A|RAPGEF4_uc010fqo.2_Missense_Mutation_p.G319A|RAPGEF4_uc010zef.1_Missense_Mutation_p.G270A|RAPGEF4_uc010zeg.1_Missense_Mutation_p.G317A|RAPGEF4_uc010zeh.1_Missense_Mutation_p.G270A	p.G490A	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.194)		15	1656	+			490					B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Missense_Mutation	SNP	ENST00000397081.3	37	c.1469G>C	CCDS42775.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.514862	0.85389	.	.	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331;ENST00000539767;ENST00000535187	T;T;T;T;T;T;T;T	0.65178	0.1;0.1;-0.14;-0.01;-0.0;0.11;0.11;-0.09	5.61	5.61	0.85477	Ras guanine nucleotide exchange factor, domain (1);	0.351874	0.33419	N	0.004938	T	0.54095	0.1837	L	0.38175	1.15	0.80722	D	1	B;B;B;B	0.23249	0.007;0.024;0.082;0.006	B;B;B;B	0.18561	0.005;0.009;0.022;0.004	T	0.47911	-0.9080	10	0.19147	T	0.46	.	19.6299	0.95698	0.0:0.0:1.0:0.0	.	317;319;346;490	B7Z805;B7Z2R0;Q8WZA2-3;Q8WZA2	.;.;.;RPGF4_HUMAN	A	489;490;490;346;319;337;337;317;270	ENSP00000264111:G489A;ENSP00000380271:G490A;ENSP00000387104:G490A;ENSP00000380276:G346A;ENSP00000440135:G319A;ENSP00000440250:G337A;ENSP00000437384:G337A;ENSP00000438011:G270A	ENSP00000264111:G489A	G	+	2	0	RAPGEF4	173563878	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.955000	0.93058	2.640000	0.89533	0.563000	0.77884	GGA		0.433	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257864.2	NM_007023		14	31	0	0	0	0.00499	0	14	31				
TTC30A	92104	broad.mit.edu	37	2	178483321	178483321	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:178483321C>G	ENST00000355689.5	-	1	373	c.109G>C	c.(109-111)Gaa>Caa	p.E37Q	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	37					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			CGCTGCAGTTCTCGGCCCAGC	0.687																																							uc002ulo.2		NA																	0					0						c.(109-111)GAA>CAA		tetratricopeptide repeat domain 30A							7.0	9.0	8.0					2																	178483321		2133	4204	6337	SO:0001583	missense	92104				cell projection organization	cilium	binding	g.chr2:178483321C>G	AK024008	CCDS2276.1	2q31.2	2013-01-11			ENSG00000197557	ENSG00000197557		"""Tetratricopeptide (TTC) repeat domain containing"""	25853	protein-coding gene	gene with protein product						12477932	Standard	NM_152275		Approved	FLJ13946	uc002ulo.3	Q86WT1	OTTHUMG00000132528	ENST00000355689.5:c.109G>C	2.37:g.178483321C>G	ENSP00000347915:p.Glu37Gln						p.E37Q	NM_152275	NP_689488	Q86WT1	TT30A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)		1	374	-			37			TPR 1.		A8K8N0|Q8IVP2	Missense_Mutation	SNP	ENST00000355689.5	37	c.109G>C	CCDS2276.1	.	.	.	.	.	.	.	.	.	.	C	4.611	0.113466	0.08831	.	.	ENSG00000197557	ENST00000355689	T	0.78246	-1.16	6.03	6.03	0.97812	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.145213	0.64402	D	0.000010	T	0.61974	0.2390	N	0.16790	0.44	0.52099	D	0.999944	B	0.31989	0.35	B	0.30105	0.111	T	0.61797	-0.6989	10	0.02654	T	1	.	18.7402	0.91770	0.0:1.0:0.0:0.0	.	37	Q86WT1	TT30A_HUMAN	Q	37	ENSP00000347915:E37Q	ENSP00000347915:E37Q	E	-	1	0	TTC30A	178191567	0.992000	0.36948	0.980000	0.43619	0.962000	0.63368	3.243000	0.51392	2.868000	0.98415	0.555000	0.69702	GAA		0.687	TTC30A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255728.2	NM_152275		4	7	0	0	0	0.009096	0	4	7				
TTN	7273	broad.mit.edu	37	2	179428686	179428686	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:179428686C>G	ENST00000591111.1	-	276	77474	c.77250G>C	c.(77248-77250)tgG>tgC	p.W25750C	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.W18518C|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.W18451C|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.W27391C|TTN_ENST00000460472.2_Missense_Mutation_p.W18326C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.W24823C			Q8WZ42	TITIN_HUMAN	titin	25750	Fibronectin type-III 87. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGGTGGGTTCCATGCCAGGT	0.473																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(74467-74469)TGG>TGC		titin isoform N2-A							88.0	84.0	85.0					2																	179428686		1849	4096	5945	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179428686C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.77250G>C	2.37:g.179428686C>G	ENSP00000465570:p.Trp25750Cys					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.W18518C|TTN_uc010zfi.1_Missense_Mutation_p.W18451C|TTN_uc010zfj.1_Missense_Mutation_p.W18326C	p.W24823C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	74693	-			25750					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.74469G>C		.	.	.	.	.	.	.	.	.	.	C	12.82	2.053955	0.36277	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1	6.17	6.17	0.99709	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.97077	0.9045	H	0.99582	4.64	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.97852	1.0275	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	18326;18451;18518;25750	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	24823;18326;18518;18451;18324	ENSP00000343764:W24823C;ENSP00000434586:W18326C;ENSP00000340554:W18518C;ENSP00000352154:W18451C	ENSP00000340554:W18518C	W	-	3	0	TTN	179136932	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	TGG		0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	55	0	0	0	0.006214	0	9	55				
TTN	7273	broad.mit.edu	37	2	179430746	179430746	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:179430746C>G	ENST00000591111.1	-	276	75414	c.75190G>C	c.(75190-75192)Gag>Cag	p.E25064Q	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E17832Q|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E17765Q|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E26705Q|TTN_ENST00000460472.2_Missense_Mutation_p.E17640Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E24137Q			Q8WZ42	TITIN_HUMAN	titin	25064	Fibronectin type-III 82. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGGGTGGCTCCCATACCAGG	0.438																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(72409-72411)GAG>CAG		titin isoform N2-A							165.0	155.0	158.0					2																	179430746		1896	4125	6021	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179430746C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.75190G>C	2.37:g.179430746C>G	ENSP00000465570:p.Glu25064Gln					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E17832Q|TTN_uc010zfi.1_Missense_Mutation_p.E17765Q|TTN_uc010zfj.1_Missense_Mutation_p.E17640Q	p.E24137Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	72633	-			25064					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.72409G>C		.	.	.	.	.	.	.	.	.	.	C	13.15	2.150132	0.37923	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	5.81	4.92	0.64577	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.52108	0.1714	L	0.49699	1.58	0.58432	D	0.999999	P;P;P;P	0.38582	0.638;0.638;0.638;0.638	B;B;B;B	0.40444	0.329;0.329;0.329;0.329	T	0.57487	-0.7803	9	0.87932	D	0	.	15.2592	0.73610	0.0:0.9319:0.0:0.0681	.	17640;17765;17832;25064	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	24137;17640;17832;17765;17638	ENSP00000343764:E24137Q;ENSP00000434586:E17640Q;ENSP00000340554:E17832Q;ENSP00000352154:E17765Q	ENSP00000340554:E17832Q	E	-	1	0	TTN	179138992	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.818000	0.86416	1.436000	0.47453	0.555000	0.69702	GAG		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		23	95	0	0	0	0.003954	0	23	95				
TTN	7273	broad.mit.edu	37	2	179432829	179432829	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:179432829C>T	ENST00000591111.1	-	276	73331	c.73107G>A	c.(73105-73107)caG>caA	p.Q24369Q	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.Q17137Q|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.Q17070Q|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.Q26010Q|TTN_ENST00000460472.2_Silent_p.Q16945Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Silent_p.Q23442Q			Q8WZ42	TITIN_HUMAN	titin	24369	Fibronectin type-III 77. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTCATGCCACTGTATGACCA	0.448																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(70324-70326)CAG>CAA		titin isoform N2-A							125.0	116.0	119.0					2																	179432829		1905	4117	6022	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179432829C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.73107G>A	2.37:g.179432829C>T						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.Q17137Q|TTN_uc010zfi.1_Silent_p.Q17070Q|TTN_uc010zfj.1_Silent_p.Q16945Q	p.Q23442Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	70550	-			24369					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.70326G>A																																																																																					0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	46	0	0	0	0.004482	0	7	46				
TTN	7273	broad.mit.edu	37	2	179436812	179436812	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:179436812C>T	ENST00000591111.1	-	276	69348	c.69124G>A	c.(69124-69126)Gaa>Aaa	p.E23042K	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E15810K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E15743K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E24683K|TTN_ENST00000460472.2_Missense_Mutation_p.E15618K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E22115K			Q8WZ42	TITIN_HUMAN	titin	23042	Fibronectin type-III 67. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGTATTCTTCACCCTGAATT	0.478																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(66343-66345)GAA>AAA		titin isoform N2-A							73.0	67.0	69.0					2																	179436812		1962	4164	6126	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179436812C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.69124G>A	2.37:g.179436812C>T	ENSP00000465570:p.Glu23042Lys					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E15810K|TTN_uc010zfi.1_Missense_Mutation_p.E15743K|TTN_uc010zfj.1_Missense_Mutation_p.E15618K	p.E22115K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	66567	-			23042					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.66343G>A		.	.	.	.	.	.	.	.	.	.	C	16.28	3.079843	0.55753	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	6.07	6.07	0.98685	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.51517	0.1679	N	0.20766	0.605	0.80722	D	1	P;P;P;P	0.50819	0.939;0.939;0.939;0.892	P;P;P;P	0.49226	0.603;0.603;0.603;0.507	T	0.55114	-0.8191	9	0.87932	D	0	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	15618;15743;15810;23042	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	22115;15618;15810;15743;15616	ENSP00000343764:E22115K;ENSP00000434586:E15618K;ENSP00000340554:E15810K;ENSP00000352154:E15743K	ENSP00000340554:E15810K	E	-	1	0	TTN	179145058	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.068000	0.71201	2.890000	0.99128	0.650000	0.86243	GAA		0.478	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	27	0	0	0	0.008291	0	8	27				
TTN	7273	broad.mit.edu	37	2	179436945	179436945	+	Silent	SNP	C	C	T	rs376382707		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:179436945C>T	ENST00000591111.1	-	276	69215	c.68991G>A	c.(68989-68991)gaG>gaA	p.E22997E	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.E15765E|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.E15698E|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.E24638E|TTN_ENST00000460472.2_Silent_p.E15573E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Silent_p.E22070E			Q8WZ42	TITIN_HUMAN	titin	22997	Fibronectin type-III 67. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTCTGGTTTCTCCCAAGAGA	0.478																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(66208-66210)GAG>GAA		titin isoform N2-A		C	,,,	0,4082		0,0,2041	89.0	83.0	85.0		46719,66210,47094,47295	2.0	1.0	2		85	2,8388		0,2,4193	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,2,6234	TT,TC,CC		0.0238,0.0,0.016	,,,	15573/26927,22070/33424,15698/27052,15765/27119	179436945	2,12470	2041	4195	6236	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179436945C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.68991G>A	2.37:g.179436945C>T						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.E15765E|TTN_uc010zfi.1_Silent_p.E15698E|TTN_uc010zfj.1_Silent_p.E15573E	p.E22070E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	66434	-			22997					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.66210G>A																																																																																					0.478	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		11	29	0	0	0	0.000978	0	11	29				
TTN	7273	broad.mit.edu	37	2	179465646	179465646	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:179465646A>C	ENST00000591111.1	-	238	51286	c.51062T>G	c.(51061-51063)gTc>gGc	p.V17021G	TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V9789G|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V9722G|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V18662G|TTN_ENST00000460472.2_Missense_Mutation_p.V9597G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V16094G			Q8WZ42	TITIN_HUMAN	titin	17021	Fibronectin type-III 23. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCAGCATTGACAGCTTTGAC	0.478																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(48280-48282)GTC>GGC		titin isoform N2-A							135.0	145.0	142.0					2																	179465646		2200	4296	6496	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179465646A>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.51062T>G	2.37:g.179465646A>C	ENSP00000465570:p.Val17021Gly					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V9789G|TTN_uc010zfi.1_Missense_Mutation_p.V9722G|TTN_uc010zfj.1_Missense_Mutation_p.V9597G	p.V16094G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		237	48505	-			17021					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.48281T>G		.	.	.	.	.	.	.	.	.	.	A	11.98	1.799714	0.31869	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0	5.66	5.66	0.87406	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79381	0.4436	M	0.77820	2.39	0.80722	D	1	D;D;D;D	0.71674	0.997;0.997;0.997;0.998	D;D;D;D	0.69824	0.939;0.939;0.939;0.966	T	0.82190	-0.0580	9	0.87932	D	0	.	16.1819	0.81915	1.0:0.0:0.0:0.0	.	9597;9722;9789;17021	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	G	16094;9597;9789;9722;9597	ENSP00000343764:V16094G;ENSP00000434586:V9597G;ENSP00000340554:V9789G;ENSP00000352154:V9722G	ENSP00000340554:V9789G	V	-	2	0	TTN	179173891	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.831000	0.69330	2.279000	0.76181	0.533000	0.62120	GTC		0.478	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		28	134	0	0	0	0.003271	0	28	134				
TTN	7273	broad.mit.edu	37	2	179480037	179480037	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:179480037G>T	ENST00000591111.1	-	209	43936	c.43712C>A	c.(43711-43713)aCa>aAa	p.T14571K	RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T7339K|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T7272K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T16212K|TTN_ENST00000460472.2_Missense_Mutation_p.T7147K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T13644K			Q8WZ42	TITIN_HUMAN	titin	14571	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACCTACTTTGTTTCTGCAAC	0.373																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(40930-40932)ACA>AAA		titin isoform N2-A							106.0	102.0	103.0					2																	179480037		1847	4097	5944	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179480037G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.43712C>A	2.37:g.179480037G>T	ENSP00000465570:p.Thr14571Lys					uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T7339K|TTN_uc010zfi.1_Missense_Mutation_p.T7272K|TTN_uc010zfj.1_Missense_Mutation_p.T7147K	p.T13644K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		208	41155	-			14571					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.40931C>A		.	.	.	.	.	.	.	.	.	.	G	10.94	1.493350	0.26774	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58797	0.31;0.31;0.31;0.31	5.96	5.96	0.96718	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70649	0.3248	M	0.74258	2.255	0.38651	D	0.95185	P;P;P;P	0.47841	0.901;0.901;0.901;0.901	P;P;P;P	0.49999	0.628;0.628;0.628;0.628	T	0.75051	-0.3454	9	0.87932	D	0	.	20.4008	0.98991	0.0:0.0:1.0:0.0	.	7147;7272;7339;14571	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	13644;7147;7339;7272;7147	ENSP00000343764:T13644K;ENSP00000434586:T7147K;ENSP00000340554:T7339K;ENSP00000352154:T7272K	ENSP00000340554:T7339K	T	-	2	0	TTN	179188282	1.000000	0.71417	0.997000	0.53966	0.711000	0.40976	4.458000	0.60095	2.826000	0.97356	0.655000	0.94253	ACA		0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	45	1	0	5.9392e-07	0.001168	7.35353e-07	5	45				
TTN	7273	broad.mit.edu	37	2	179588354	179588354	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:179588354C>A	ENST00000591111.1	-	72	20746	c.20522G>T	c.(20521-20523)aGc>aTc	p.S6841I	RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S7158I|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S5914I			Q8WZ42	TITIN_HUMAN	titin	12434	Ig-like 50.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTAATAACGCTTGTGAAGGT	0.418																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(17740-17742)AGC>ATC		titin isoform N2-A							53.0	49.0	50.0					2																	179588354		1846	4087	5933	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179588354C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.20522G>T	2.37:g.179588354C>A	ENSP00000465570:p.Ser6841Ile					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S2575I	p.S5914I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		71	17965	-			6841					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.17741G>T		.	.	.	.	.	.	.	.	.	.	C	9.660	1.143988	0.21205	.	.	ENSG00000155657	ENST00000342992	T	0.38887	1.11	6.16	6.16	0.99307	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.45538	0.1347	M	0.61703	1.905	0.80722	D	1	P	0.34864	0.473	B	0.34991	0.193	T	0.44877	-0.9299	9	0.87932	D	0	.	17.0356	0.86474	0.0:0.8732:0.1268:0.0	.	6841	Q8WZ42	TITIN_HUMAN	I	5914	ENSP00000343764:S5914I	ENSP00000343764:S5914I	S	-	2	0	TTN	179296599	0.001000	0.12720	1.000000	0.80357	0.966000	0.64601	1.399000	0.34566	2.937000	0.99478	0.650000	0.86243	AGC		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	19	1	0	0.00116845	0.001168	0.00126823	6	19				
TTN	7273	broad.mit.edu	37	2	179615829	179615829	+	Intron	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:179615829A>T	ENST00000591111.1	-	45	10585				TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000360870.5_Silent_p.A3766A|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAATACTCTCAGCTGAATGAT	0.358																																							uc002unb.2		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(11296-11298)GCT>GCA		titin isoform novex-3							97.0	99.0	98.0					2																	179615829		2202	4296	6498	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179615829A>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+2021T>A	2.37:g.179615829A>T						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.A3766A	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	11522	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.11298T>A																																																																																					0.358	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		40	50	0	0	0	0.00623	0	40	50				
TTN	7273	broad.mit.edu	37	2	179638602	179638602	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:179638602G>T	ENST00000591111.1	-	31	7517	c.7293C>A	c.(7291-7293)gcC>gcA	p.A2431A	TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342175.6_Silent_p.A2385A|TTN_ENST00000360870.5_Silent_p.A2431A|TTN_ENST00000359218.5_Silent_p.A2385A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.A2431A|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000460472.2_Silent_p.A2385A|TTN_ENST00000342992.6_Silent_p.A2431A			Q8WZ42	TITIN_HUMAN	titin	12753	Ig-like 13.|Ig-like 14.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGAGGCCAAGGGCTGGAATGG	0.403																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(7291-7293)GCC>GCA		titin isoform N2-A							95.0	80.0	85.0					2																	179638602		2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179638602G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.7293C>A	2.37:g.179638602G>T						TTN_uc010zfh.1_Silent_p.A2385A|TTN_uc010zfi.1_Silent_p.A2385A|TTN_uc010zfj.1_Silent_p.A2385A|TTN_uc002unb.2_Silent_p.A2431A	p.A2431A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		31	7517	-			2431					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.7293C>A																																																																																					0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		13	102	1	0	6.31663e-08	0.003163	8.15349e-08	13	102				
TTN	7273	broad.mit.edu	37	2	179645895	179645895	+	Missense_Mutation	SNP	C	C	A	rs149883066	byFrequency	TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:179645895C>A	ENST00000591111.1	-	21	3700	c.3476G>T	c.(3475-3477)cGc>cTc	p.R1159L	RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R1113L|TTN_ENST00000360870.5_Missense_Mutation_p.R1159L|TTN_ENST00000359218.5_Missense_Mutation_p.R1113L|TTN_ENST00000589042.1_Missense_Mutation_p.R1159L|TTN_ENST00000460472.2_Missense_Mutation_p.R1113L|TTN_ENST00000342992.6_Missense_Mutation_p.R1159L			Q8WZ42	TITIN_HUMAN	titin	33376	Ig-like 4.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGCTTATTGCGAACAACAAT	0.388																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(3475-3477)CGC>CTC		titin isoform N2-A		C	LEU/ARG,LEU/ARG,LEU/ARG,LEU/ARG,LEU/ARG	0,4406		0,0,2203	188.0	163.0	171.0		3338,3476,3476,3338,3338	5.9	1.0	2	dbSNP_134	171	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	102,102,102,102,102	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	1113/26927,1159/33424,1159/5605,1113/27052,1113/27119	179645895	1,13005	2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179645895C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.3476G>T	2.37:g.179645895C>A	ENSP00000465570:p.Arg1159Leu					TTN_uc010zfh.1_Missense_Mutation_p.R1113L|TTN_uc010zfi.1_Missense_Mutation_p.R1113L|TTN_uc010zfj.1_Missense_Mutation_p.R1113L|TTN_uc002unb.2_Missense_Mutation_p.R1159L	p.R1159L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		21	3700	-			1159					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.3476G>T		.	.	.	.	.	.	.	.	.	.	C	15.94	2.981384	0.53827	0.0	1.16E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2	5.91	5.91	0.95273	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.73560	0.3602	L	0.35723	1.085	0.33236	D	0.556566	D;D;D;D;D	0.76494	0.984;0.984;0.984;0.992;0.999	P;P;P;P;D	0.70487	0.828;0.828;0.828;0.828;0.969	T	0.78206	-0.2294	9	0.87932	D	0	.	20.2885	0.98538	0.0:1.0:0.0:0.0	.	1113;1113;1113;1159;1159	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	L	1159;1113;1113;1113;1113;1159	ENSP00000343764:R1159L;ENSP00000434586:R1113L;ENSP00000340554:R1113L;ENSP00000352154:R1113L;ENSP00000354117:R1159L	ENSP00000340554:R1113L	R	-	2	0	TTN	179354140	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.828000	0.62730	2.791000	0.96007	0.650000	0.86243	CGC		0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		27	23	1	0	1.16021e-09	0.007291	1.58715e-09	27	23				
CERKL	375298	broad.mit.edu	37	2	182413481	182413481	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:182413481C>T	ENST00000339098.5	-	8	1076	c.1077G>A	c.(1075-1077)ctG>ctA	p.L359L	CERKL_ENST00000374970.2_Silent_p.L264L|CERKL_ENST00000410087.3_Silent_p.L333L|CERKL_ENST00000374969.2_Silent_p.L220L|CERKL_ENST00000409440.3_Silent_p.L315L|CERKL_ENST00000479558.1_5'UTR			Q49MI3	CERKL_HUMAN	ceramide kinase-like	359					negative regulation of apoptotic process (GO:0043066)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			ATTTTTCTGCCAGAGCCAAAG	0.453																																							uc002unx.2		NA																	0				ovary(2)|kidney(1)|skin(1)	4						c.(1075-1077)CTG>CTA		ceramide kinase-like isoform b							81.0	82.0	82.0					2																	182413481		2203	4300	6503	SO:0001819	synonymous_variant	375298				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|endoplasmic reticulum|Golgi apparatus|Golgi apparatus|nucleolus|nucleolus	diacylglycerol kinase activity	g.chr2:182413481C>T	BC020465	CCDS33340.1, CCDS33341.1, CCDS42789.1, CCDS46466.1, CCDS54425.1	2q31.3	2005-01-04			ENSG00000188452	ENSG00000188452			21699	protein-coding gene	gene with protein product			"""retinitis pigmentosa 26 (autosomal recessive)"""	RP26		14681825	Standard	NR_027689		Approved		uc002uny.3	Q49MI3	OTTHUMG00000154315	ENST00000339098.5:c.1077G>A	2.37:g.182413481C>T						CERKL_uc002uny.2_Silent_p.L333L|CERKL_uc010zfm.1_Silent_p.L315L|CERKL_uc002unz.2_Silent_p.L81L|CERKL_uc002uoa.2_Silent_p.L264L|CERKL_uc002uob.2_Silent_p.L81L|CERKL_uc002uoc.2_Silent_p.L220L|CERKL_uc010frk.2_RNA|CERKL_uc002uod.1_Silent_p.L128L|CERKL_uc002uoe.2_Silent_p.L333L|CERKL_uc002unw.2_5'Flank	p.L359L	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)		8	1178	-			359					B2RPL2|B4DEY1|Q49MH9|Q49MI0|Q49MI1|Q49MI2|Q5DVJ2|Q5DVJ4|Q5DVJ5|Q6UZF6|Q6ZP59	Silent	SNP	ENST00000339098.5	37	c.1077G>A	CCDS42789.1																																																																																				0.453	CERKL-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334811.1			8	50	0	0	0	0.00308	0	8	50				
SSFA2	6744	broad.mit.edu	37	2	182783599	182783599	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:182783599G>A	ENST00000431877.2	+	13	3162	c.2983G>A	c.(2983-2985)Gag>Aag	p.E995K	SSFA2_ENST00000409136.1_Missense_Mutation_p.E504K|SSFA2_ENST00000320370.7_Missense_Mutation_p.E995K|SSFA2_ENST00000467172.2_3'UTR|SSFA2_ENST00000409001.1_Missense_Mutation_p.E995K|SSFA2_ENST00000428267.2_Missense_Mutation_p.E842K	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	995						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TCATATGACTGAGGAGGAGAG	0.358																																							uc002uoi.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(2983-2985)GAG>AAG		sperm specific antigen 2 isoform 1							63.0	63.0	63.0					2																	182783599		2203	4300	6503	SO:0001583	missense	6744					cytoplasm|plasma membrane	actin binding	g.chr2:182783599G>A	M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"""cleavage signal-1 protein"", ""KRAS-induced actin-interacting protein"", ""sperm associated antigen 13"""	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.2983G>A	2.37:g.182783599G>A	ENSP00000388731:p.Glu995Lys					SSFA2_uc002uoh.2_Missense_Mutation_p.E995K|SSFA2_uc002uoj.2_Missense_Mutation_p.E995K|SSFA2_uc002uok.2_RNA|SSFA2_uc010zfo.1_Missense_Mutation_p.E842K|SSFA2_uc002uol.2_Missense_Mutation_p.E842K|SSFA2_uc002uom.2_Missense_Mutation_p.E463K	p.E995K	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0856)		13	3305	+			995			Potential.		A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Missense_Mutation	SNP	ENST00000431877.2	37	c.2983G>A	CCDS46467.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.980040	0.92982	.	.	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267;ENST00000409136	T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14	5.91	5.91	0.95273	.	0.152664	0.64402	D	0.000018	T	0.64023	0.2561	M	0.73598	2.24	0.52501	D	0.999953	D;D;D;D;D	0.89917	1.0;1.0;0.998;0.998;0.998	D;D;D;D;D	0.85130	0.997;0.997;0.994;0.994;0.994	T	0.64525	-0.6387	10	0.72032	D	0.01	-10.4679	20.2936	0.98544	0.0:0.0:1.0:0.0	.	842;504;995;995;995	E7END2;E7EUL7;E9PHV5;P28290;P28290-3	.;.;.;SSFA2_HUMAN;.	K	995;995;995;842;504	ENSP00000388731:E995K;ENSP00000314669:E995K;ENSP00000387319:E995K;ENSP00000409867:E842K;ENSP00000386916:E504K	ENSP00000314669:E995K	E	+	1	0	SSFA2	182491844	1.000000	0.71417	0.992000	0.48379	0.988000	0.76386	7.820000	0.86633	2.801000	0.96364	0.655000	0.94253	GAG		0.358	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2	NM_006751		17	44	0	0	0	0.010504	0	17	44				
COL3A1	1281	broad.mit.edu	37	2	189857656	189857656	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:189857656C>A	ENST00000304636.3	+	15	1210	c.1040C>A	c.(1039-1041)cCt>cAt	p.P347H	COL3A1_ENST00000317840.5_Missense_Mutation_p.P347H	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	347	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	CCTGGATCCCCTGGTGCTAAG	0.388																																							uc002uqj.1		NA																	0				central_nervous_system(7)|ovary(4)|large_intestine(2)	13						c.(1039-1041)CCT>CAT		collagen type III alpha 1 preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						89.0	95.0	93.0					2																	189857656		2203	4300	6503	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189857656C>A	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.1040C>A	2.37:g.189857656C>A	ENSP00000304408:p.Pro347His					COL3A1_uc010frw.1_RNA	p.P347H	NM_000090	NP_000081	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		15	1157	+			347			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.1040C>A	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.145183	0.77888	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	D;D	0.96774	-3.18;-4.12	6.02	6.02	0.97574	.	0.000000	0.48767	D	0.000164	D	0.98365	0.9457	M	0.84773	2.715	0.58432	D	0.999999	D	0.89917	1.0	D	0.79784	0.993	D	0.98406	1.0570	10	0.62326	D	0.03	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	347	P02461	CO3A1_HUMAN	H	347	ENSP00000304408:P347H;ENSP00000315243:P347H	ENSP00000304408:P347H	P	+	2	0	COL3A1	189565901	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.763000	0.68818	2.865000	0.98341	0.655000	0.94253	CCT		0.388	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		5	65	1	0	5.9392e-07	0.001168	7.35353e-07	5	65				
NABP1	64859	broad.mit.edu	37	2	192543851	192543851	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:192543851G>A	ENST00000425611.2	+	2	310	c.227G>A	c.(226-228)aGa>aAa	p.R76K	NABP1_ENST00000409510.1_5'UTR|NABP1_ENST00000410026.2_5'UTR	NM_001031716.2	NP_001026886.1	Q96AH0	SOSB2_HUMAN	nucleic acid binding protein 1	76					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SOSS complex (GO:0070876)	RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)										CGGTTGACCAGAGGGTAGGTG	0.527																																							uc002usx.2		NA																	0					0						c.(226-228)AGA>AAA		oligonucleotide/oligosaccharide-binding fold							68.0	65.0	66.0					2																	192543851		2203	4300	6503	SO:0001583	missense	64859				double-strand break repair via homologous recombination|G2/M transition checkpoint|response to ionizing radiation	SOSS complex	single-stranded DNA binding	g.chr2:192543851G>A	BC017114	CCDS33352.1, CCDS58745.1	2q32.3	2012-06-19	2012-06-19	2012-06-19	ENSG00000173559	ENSG00000173559			26232	protein-coding gene	gene with protein product	"""single-stranded DNA-binding protein 2"", ""sensor of single-strand DNA complex subunit B2"""	612103	"""oligonucleotide/oligosaccharide-binding fold containing 2A"""	OBFC2A			Standard	NM_001031716		Approved	FLJ22833, DKFZp667M1322, FLJ13624, MGC111163, SSB2, hSSB2, SOSS-B2	uc002usx.3	Q96AH0	OTTHUMG00000132720	ENST00000425611.2:c.227G>A	2.37:g.192543851G>A	ENSP00000403683:p.Arg76Lys					OBFC2A_uc002usw.2_5'UTR|OBFC2A_uc002usy.2_RNA|OBFC2A_uc002usz.2_RNA|OBFC2A_uc002uta.2_5'UTR	p.R76K	NM_001031716	NP_001026886	Q96AH0	SOSB2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.061)|Epithelial(96;0.244)		2	707	+			76			OB.		Q658Y8|Q9H5X6	Missense_Mutation	SNP	ENST00000425611.2	37	c.227G>A	CCDS33352.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.69|10.69	1.421630|1.421630	0.25639|0.25639	.|.	.|.	ENSG00000173559|ENSG00000173559	ENST00000435931|ENST00000425611	.|T	.|0.23950	.|1.88	5.27|5.27	5.27|5.27	0.74061|0.74061	.|Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);Nucleic acid binding, OB-fold, tRNA/helicase-type (1);	.|0.061225	.|0.64402	.|D	.|0.000011	T|T	0.09686|0.09686	0.0238|0.0238	N|N	0.05050|0.05050	-0.12|-0.12	0.44702|0.44702	D|D	0.997697|0.997697	.|B	.|0.09022	.|0.002	.|B	.|0.18561	.|0.022	T|T	0.20739|0.20739	-1.0266|-1.0266	5|10	.|0.02654	.|T	.|1	.|.	6.8855|6.8855	0.24197|0.24197	0.2166:0.0:0.7834:0.0|0.2166:0.0:0.7834:0.0	.|.	.|76	.|Q96AH0	.|SOSB2_HUMAN	K|K	46|76	.|ENSP00000403683:R76K	.|ENSP00000307968:R76K	E|R	+|+	1|2	0|0	OBFC2A|OBFC2A	192252096|192252096	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.983000|0.983000	0.72400|0.72400	6.345000|6.345000	0.72995|0.72995	2.472000|2.472000	0.83506|0.83506	0.650000|0.650000	0.86243|0.86243	GAG|AGA		0.527	NABP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256060.1	NM_022837		16	67	0	0	0	0.008871	0	16	67				
SGOL2	151246	broad.mit.edu	37	2	201438346	201438346	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:201438346C>G	ENST00000357799.4	+	7	3375	c.3277C>G	c.(3277-3279)Cat>Gat	p.H1093D		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	1093					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TCCAGAGAGCCATGAAGTAAT	0.368																																							uc002uvw.2		NA																	0				ovary(2)|skin(2)	4						c.(3277-3279)CAT>GAT		shugoshin-like 2 isoform 1							112.0	107.0	108.0					2																	201438346		1832	4090	5922	SO:0001583	missense	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201438346C>G	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.3277C>G	2.37:g.201438346C>G	ENSP00000350447:p.His1093Asp					SGOL2_uc010zhd.1_Missense_Mutation_p.H1093D|SGOL2_uc010zhe.1_Missense_Mutation_p.H1093D	p.H1093D	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN			7	3390	+			1093					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	ENST00000357799.4	37	c.3277C>G	CCDS42796.1	.	.	.	.	.	.	.	.	.	.	C	9.981	1.228212	0.22542	.	.	ENSG00000163535	ENST00000357799	T	0.13089	2.62	5.52	0.233	0.15386	.	1.745080	0.02852	N	0.129215	T	0.13670	0.0331	L	0.50333	1.59	0.09310	N	1	B;B;B	0.30973	0.302;0.302;0.302	B;B;B	0.28139	0.086;0.086;0.086	T	0.28933	-1.0028	10	0.62326	D	0.03	8.4389	3.3203	0.07048	0.3314:0.4085:0.0:0.26	.	1093;1093;1093	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	D	1093	ENSP00000350447:H1093D	ENSP00000350447:H1093D	H	+	1	0	SGOL2	201146591	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.178000	0.03093	0.150000	0.19136	0.650000	0.86243	CAT		0.368	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		13	66	0	0	0	0.00245	0	13	66				
ALS2	57679	broad.mit.edu	37	2	202603421	202603421	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:202603421C>A	ENST00000264276.6	-	12	2761	c.2389G>T	c.(2389-2391)Gga>Tga	p.G797*	ALS2_ENST00000457679.2_Nonsense_Mutation_p.G109*	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	797	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						AGCTGGAATCCTCCCATAACC	0.383																																							uc002uyo.2		NA																	0				skin(5)|lung(1)|breast(1)	7						c.(2389-2391)GGA>TGA		alsin isoform 1							94.0	93.0	93.0					2																	202603421		1876	4111	5987	SO:0001587	stop_gained	57679				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	g.chr2:202603421C>A	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.2389G>T	2.37:g.202603421C>A	ENSP00000264276:p.Gly797*					ALS2_uc002uyp.3_Nonsense_Mutation_p.G797*|ALS2_uc010ftl.2_RNA	p.G797*	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN			12	2745	-			797			DH.		Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Nonsense_Mutation	SNP	ENST00000264276.6	37	c.2389G>T	CCDS42800.1	.	.	.	.	.	.	.	.	.	.	C	45	11.916240	0.99617	.	.	ENSG00000003393	ENST00000264276;ENST00000457679	.	.	.	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.7012	0.91620	0.0:1.0:0.0:0.0	.	.	.	.	X	797;109	.	ENSP00000264276:G797X	G	-	1	0	ALS2	202311666	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.811000	0.75221	2.724000	0.93272	0.650000	0.86243	GGA		0.383	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		9	44	1	0	1.08611e-07	0.000978	1.38156e-07	9	44				
FZD7	8324	broad.mit.edu	37	2	202901057	202901057	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:202901057A>T	ENST00000286201.1	+	1	1748	c.1687A>T	c.(1687-1689)Aga>Tga	p.R563*	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	563					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of ectodermal cell fate specification (GO:0042666)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of catenin import into nucleus (GO:0035412)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|stem cell maintenance (GO:0019827)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						CTTCTACCACAGACTTAGCCA	0.612																																							uc002uyw.1		NA																	0				skin(2)|ovary(1)|breast(1)	4						c.(1687-1689)AGA>TGA		frizzled 7 precursor							37.0	40.0	39.0					2																	202901057		2203	4290	6493	SO:0001587	stop_gained	8324				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr2:202901057A>T	AB010881	CCDS2351.1	2q33	2014-01-29	2014-01-29		ENSG00000155760	ENSG00000155760		"""GPCR / Class F : Frizzled receptors"""	4045	protein-coding gene	gene with protein product		603410	"""frizzled (Drosophila) homolog 7"", ""frizzled homolog 7 (Drosophila)"", ""frizzled 7, seven transmembrane spanning receptor"", ""frizzled family receptor 7"""			9707618, 9813155	Standard	NM_003507		Approved	FzE3	uc002uyw.1	O75084	OTTHUMG00000132841	ENST00000286201.1:c.1687A>T	2.37:g.202901057A>T	ENSP00000286201:p.Arg563*						p.R563*	NM_003507	NP_003498	O75084	FZD7_HUMAN			1	1748	+			563			Cytoplasmic (Potential).		O94816|Q53S59|Q96B74	Nonsense_Mutation	SNP	ENST00000286201.1	37	c.1687A>T	CCDS2351.1	.	.	.	.	.	.	.	.	.	.	A	37	6.359500	0.97502	.	.	ENSG00000155760	ENST00000286201	.	.	.	5.83	4.65	0.58169	.	0.053822	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0611	0.59008	0.8658:0.1342:0.0:0.0	.	.	.	.	X	563	.	ENSP00000286201:R563X	R	+	1	2	FZD7	202609302	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.563000	0.45922	0.998000	0.38996	0.533000	0.62120	AGA		0.612	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256314.1	NM_003507		33	37	0	0	0	0.004289	0	33	37				
MAP2	4133	broad.mit.edu	37	2	210574909	210574909	+	Silent	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:210574909A>T	ENST00000360351.4	+	12	5510	c.5004A>T	c.(5002-5004)ccA>ccT	p.P1668P	MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000392194.1_Silent_p.P312P|MAP2_ENST00000361559.4_Silent_p.P312P|MAP2_ENST00000199940.6_Silent_p.P369P|MAP2_ENST00000447185.1_Silent_p.P1664P	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1668					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	AACCACTGCCAGACCTGAAGA	0.478																																					Pancreas(27;423 979 28787 29963)	Pancreas(27;423 979 28787 29963)	uc002vde.1		NA																	0				ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17						c.(5002-5004)CCA>CCT		microtubule-associated protein 2 isoform 1	Estramustine(DB01196)						69.0	58.0	62.0					2																	210574909		2203	4300	6503	SO:0001819	synonymous_variant	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210574909A>T		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.5004A>T	2.37:g.210574909A>T						MAP2_uc002vdd.1_Silent_p.P369P|MAP2_uc002vdf.1_Silent_p.P312P|MAP2_uc002vdg.1_Silent_p.P312P|MAP2_uc002vdh.1_Silent_p.P369P|MAP2_uc002vdi.1_Silent_p.P1664P	p.P1668P	NM_002374	NP_002365	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	12	5252	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	1668			Tau/MAP 1.		Q17S04|Q8IUX2|Q99975|Q99976	Silent	SNP	ENST00000360351.4	37	c.5004A>T	CCDS2384.1																																																																																				0.478	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		5	5	0	0	0	0.000602	0	5	5				
UNC80	285175	broad.mit.edu	37	2	210642116	210642116	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:210642116A>T	ENST00000439458.1	+	4	513	c.433A>T	c.(433-435)Agc>Tgc	p.S145C	UNC80_ENST00000272845.6_Missense_Mutation_p.S145C|UNC80_ENST00000478701.1_3'UTR	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	145					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						GGGTGGAAGCAGCAGTGCTTT	0.547																																							uc010zjc.1		NA																	0					0						c.(433-435)AGC>TGC		chromosome 2 open reading frame 21 isoform 1							65.0	68.0	67.0					2																	210642116		2203	4300	6503	SO:0001583	missense	285175					integral to membrane		g.chr2:210642116A>T	AK090815	CCDS2387.1, CCDS46504.1, CCDS2387.2	2q35	2009-08-17	2009-08-17	2009-08-17	ENSG00000144406	ENSG00000144406			26582	protein-coding gene	gene with protein product		612636	"""chromosome 2 open reading frame 21"""	C2orf21		19092807	Standard	NM_032504		Approved	FLJ33496, KIAA1843, UNC-80	uc010zjc.1	Q8N2C7	OTTHUMG00000132963	ENST00000439458.1:c.433A>T	2.37:g.210642116A>T	ENSP00000391088:p.Ser145Cys					UNC80_uc002vdj.1_Missense_Mutation_p.S145C	p.S145C	NM_032504	NP_115893	Q8N2C7	UNC80_HUMAN			4	513	+			145					B2RN50|B4DQY9|B4DZB3|C4IXS8|C9J1U3|Q96JI4|Q96SS0	Missense_Mutation	SNP	ENST00000439458.1	37	c.433A>T	CCDS46504.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.532098	0.85812	.	.	ENSG00000144406	ENST00000439458;ENST00000281753;ENST00000272845	T;T	0.35236	1.32;1.32	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.49864	0.1582	L	0.36672	1.1	0.80722	D	1	D;D	0.76494	0.99;0.999	P;D	0.66847	0.799;0.947	T	0.50329	-0.8841	10	0.72032	D	0.01	.	15.2149	0.73258	1.0:0.0:0.0:0.0	.	145;145	Q8N2C7;Q8N2C7-3	UNC80_HUMAN;.	C	145	ENSP00000391088:S145C;ENSP00000272845:S145C	ENSP00000272845:S145C	S	+	1	0	UNC80	210350361	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.780000	0.62382	2.333000	0.79357	0.533000	0.62120	AGC		0.547	UNC80-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_182587		7	37	0	0	0	0.00308	0	7	37				
CPS1	1373	broad.mit.edu	37	2	211527880	211527880	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:211527880G>T	ENST00000233072.5	+	33	4157	c.3961G>T	c.(3961-3963)Gct>Tct	p.A1321S	CPS1_ENST00000430249.2_Missense_Mutation_p.A1327S|CPS1_ENST00000451903.2_Missense_Mutation_p.A870S	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1321					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	GTTGAGGGATGCTGACCCCAT	0.398																																							uc002vee.3		NA																	0				ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(3961-3963)GCT>TCT		carbamoyl-phosphate synthetase 1 isoform b							52.0	56.0	54.0					2																	211527880		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211527880G>T	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.3961G>T	2.37:g.211527880G>T	ENSP00000233072:p.Ala1321Ser					CPS1_uc010fur.2_Missense_Mutation_p.A1327S|CPS1_uc010fus.2_Missense_Mutation_p.A870S	p.A1321S	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	33	4093	+			1321					B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.3961G>T	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.640976	0.87859	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	T;T;T	0.70749	-0.51;-0.51;-0.51	5.73	5.73	0.89815	ATP-grasp fold, subdomain 2 (1);	0.000000	0.85682	D	0.000000	T	0.67496	0.2899	L	0.55103	1.725	0.58432	D	0.999997	P;P	0.45672	0.864;0.864	B;B	0.36666	0.23;0.23	T	0.72805	-0.4182	10	0.62326	D	0.03	-10.4837	19.8961	0.96958	0.0:0.0:1.0:0.0	.	1331;1321	Q59HF8;P31327	.;CPSM_HUMAN	S	1327;1329;1321;870	ENSP00000402608:A1327S;ENSP00000233072:A1321S;ENSP00000406136:A870S	ENSP00000233072:A1321S	A	+	1	0	CPS1	211236125	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.396000	0.97270	2.699000	0.92147	0.655000	0.94253	GCT		0.398	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			12	82	1	0	2.32078e-09	0.003163	3.14299e-09	12	82				
ERBB4	2066	broad.mit.edu	37	2	212426702	212426702	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:212426702A>C	ENST00000342788.4	-	20	2723	c.2413T>G	c.(2413-2415)Ttg>Gtg	p.L805V	ERBB4_ENST00000436443.1_Missense_Mutation_p.L805V|ERBB4_ENST00000402597.1_Missense_Mutation_p.L795V	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	805	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	ACATACTCCAACAGGCAGCCA	0.493										TSP Lung(8;0.080)																													uc002veg.1		NA																	0				lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33						c.(2413-2415)TTG>GTG		v-erb-a erythroblastic leukemia viral oncogene							149.0	128.0	135.0					2																	212426702		2203	4300	6503	SO:0001583	missense	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212426702A>C	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.2413T>G	2.37:g.212426702A>C	ENSP00000342235:p.Leu805Val	TSP Lung(8;0.080)				ERBB4_uc002veh.1_Missense_Mutation_p.L805V|ERBB4_uc010zji.1_Missense_Mutation_p.L795V|ERBB4_uc010zjj.1_Missense_Mutation_p.L795V|ERBB4_uc010fut.1_Missense_Mutation_p.L805V	p.L805V	NM_005235	NP_005226	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	20	2511	-		Renal(323;0.06)|Lung NSC(271;0.197)	805			Protein kinase.|Cytoplasmic (Potential).		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.2413T>G	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	A	18.29	3.591964	0.66219	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.63096	-0.02;-0.02;-0.02	4.98	-5.65	0.02459	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.71525	0.3350	L	0.57130	1.785	0.53688	D	0.999977	D;P;D;D	0.55605	0.966;0.689;0.957;0.972	D;P;D;D	0.74348	0.971;0.867;0.961;0.983	T	0.74884	-0.3512	10	0.87932	D	0	.	17.7028	0.88300	0.3246:0.0:0.6754:0.0	.	795;795;805;805	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	V	805;805;795	ENSP00000342235:L805V;ENSP00000403204:L805V;ENSP00000385565:L795V	ENSP00000342235:L805V	L	-	1	2	ERBB4	212134947	0.993000	0.37304	0.434000	0.26772	0.800000	0.45204	0.662000	0.25038	-1.012000	0.03387	-0.242000	0.12053	TTG		0.493	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		18	156	0	0	0	0.007413	0	18	156				
IKZF2	22807	broad.mit.edu	37	2	213921620	213921620	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:213921620C>T	ENST00000434687.1	-	5	652	c.343G>A	c.(343-345)Gac>Aac	p.D115N	IKZF2_ENST00000421754.2_Intron|IKZF2_ENST00000342002.2_Missense_Mutation_p.D121N|IKZF2_ENST00000457361.1_Missense_Mutation_p.D115N|IKZF2_ENST00000374319.4_Intron|IKZF2_ENST00000451136.2_Intron|IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000413091.3_Missense_Mutation_p.D115N			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	115					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		CCACAGACGTCACATTTCAGT	0.498																																							uc002vem.2		NA																	0					0						c.(343-345)GAC>AAC		helios isoform 1							140.0	119.0	126.0					2																	213921620		2203	4300	6503	SO:0001583	missense	22807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:213921620C>T	AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13177	protein-coding gene	gene with protein product		606234	"""zinc finger protein, subfamily 1A, 2 (Helios)"""	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.343G>A	2.37:g.213921620C>T	ENSP00000412869:p.Asp115Asn					IKZF2_uc010fuu.2_Intron|IKZF2_uc002vej.2_Missense_Mutation_p.D62N|IKZF2_uc002vek.2_RNA|IKZF2_uc010fuv.2_Intron|IKZF2_uc002vel.2_Intron|IKZF2_uc010fuw.2_5'UTR|IKZF2_uc010fux.2_Intron|IKZF2_uc010fuy.2_Intron|IKZF2_uc002ven.2_Intron	p.D115N	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)	4	512	-		Esophageal squamous(248;0.0559)|Renal(323;0.218)	115			C2H2-type 1.		Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Missense_Mutation	SNP	ENST00000434687.1	37	c.343G>A	CCDS2395.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.251486	0.80135	.	.	ENSG00000030419	ENST00000457361;ENST00000342002;ENST00000434687;ENST00000413091	T;T;T;T	0.08634	3.09;3.07;3.09;3.2	6.02	6.02	0.97574	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000004	T	0.24275	0.0588	L	0.40543	1.245	0.80722	D	1	D	0.63880	0.993	D	0.72338	0.977	T	0.00053	-1.2187	10	0.87932	D	0	-10.638	20.5373	0.99239	0.0:1.0:0.0:0.0	.	115	Q9UKS7	IKZF2_HUMAN	N	115;121;115;115	ENSP00000410447:D115N;ENSP00000342876:D121N;ENSP00000412869:D115N;ENSP00000402334:D115N	ENSP00000342876:D121N	D	-	1	0	IKZF2	213629865	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.757000	0.85209	2.857000	0.98124	0.650000	0.86243	GAC		0.498	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256593.3	NM_016260		20	58	0	0	0	0.001882	0	20	58				
ZNF142	7701	broad.mit.edu	37	2	219509212	219509212	+	Missense_Mutation	SNP	C	C	A	rs372171422		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:219509212C>A	ENST00000449707.1	-	8	2448	c.2027G>T	c.(2026-2028)gGg>gTg	p.G676V	ZNF142_ENST00000411696.2_Missense_Mutation_p.G676V	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	676					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(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CAGGTCACCCCCATGGGGAGC	0.632																																					Colon(170;867 1942 8995 15834 18053)	Colon(170;867 1942 8995 15834 18053)	uc002vin.2		NA																	0				breast(2)|ovary(1)|skin(1)	4						c.(2026-2028)GGG>GTG		zinc finger protein 142							36.0	39.0	38.0					2																	219509212		2038	4180	6218	SO:0001583	missense	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219509212C>A	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"""Zinc fingers, C2H2-type"""	12927	protein-coding gene	gene with protein product		604083	"""zinc finger protein 142 (clone pHZ-49)"""				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.2027G>T	2.37:g.219509212C>A	ENSP00000408643:p.Gly676Val					ZNF142_uc002vil.2_Missense_Mutation_p.G637V|ZNF142_uc010fvt.2_Missense_Mutation_p.G513V|ZNF142_uc002vim.2_Missense_Mutation_p.G513V	p.G676V	NM_001105537	NP_001099007	P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	8	2463	-		Renal(207;0.0474)	676					Q92510	Missense_Mutation	SNP	ENST00000449707.1	37	c.2027G>T	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	C	4.463	0.085770	0.08583	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.11604	2.76;2.76	5.86	1.85	0.25348	.	0.870626	0.10302	N	0.691028	T	0.07324	0.0185	L	0.29908	0.895	0.09310	N	0.999997	P;B	0.42785	0.79;0.22	B;B	0.38458	0.274;0.116	T	0.33828	-0.9853	10	0.29301	T	0.29	-16.3411	5.5195	0.16925	0.0:0.5508:0.1322:0.3171	.	676;513	P52746;A8MWU9	ZN142_HUMAN;.	V	676	ENSP00000408643:G676V;ENSP00000398798:G676V	ENSP00000398798:G676V	G	-	2	0	ZNF142	219217456	0.000000	0.05858	0.006000	0.13384	0.322000	0.28314	-0.466000	0.06672	0.054000	0.16065	0.655000	0.94253	GGG		0.632	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		23	32	1	0	6.32553e-13	0.004656	9.41548e-13	23	32				
CCDC108	255101	broad.mit.edu	37	2	219888887	219888887	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:219888887C>G	ENST00000341552.5	-	15	2528	c.2445G>C	c.(2443-2445)caG>caC	p.Q815H	CCDC108_ENST00000453220.1_Missense_Mutation_p.Q815H|CCDC108_ENST00000441968.1_Missense_Mutation_p.Q815H	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	815						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGAGCCTCTCTGGGGGGCCA	0.632																																							uc002vjl.1		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(2443-2445)CAG>CAC		coiled-coil domain containing 108 isoform 1							52.0	58.0	56.0					2																	219888887		2203	4300	6503	SO:0001583	missense	255101					integral to membrane	structural molecule activity	g.chr2:219888887C>G	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.2445G>C	2.37:g.219888887C>G	ENSP00000340776:p.Gln815His						p.Q815H	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	15	2529	-		Renal(207;0.0915)	815					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	c.2445G>C	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	C	13.35	2.210097	0.39003	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	T;T;T	0.41758	0.99;0.99;0.99	5.7	-11.4	0.00090	.	1.621050	0.03906	N	0.281049	T	0.27278	0.0669	L	0.36672	1.1	0.31823	N	0.625677	P	0.35468	0.503	B	0.40410	0.328	T	0.38520	-0.9657	10	0.56958	D	0.05	0.0405	1.0601	0.01599	0.203:0.3004:0.1981:0.2985	.	815	Q6ZU64	CC108_HUMAN	H	815	ENSP00000340776:Q815H;ENSP00000413377:Q815H;ENSP00000409117:Q815H	ENSP00000340776:Q815H	Q	-	3	2	CCDC108	219597131	0.000000	0.05858	0.000000	0.03702	0.584000	0.36387	-2.502000	0.00965	-2.158000	0.00788	-0.311000	0.09066	CAG		0.632	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		9	51	0	0	0	0.004482	0	9	51				
IHH	3549	broad.mit.edu	37	2	219920417	219920417	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:219920417C>A	ENST00000295731.6	-	3	747	c.748G>T	c.(748-750)Gag>Tag	p.E250*	MIR3131_ENST00000583592.1_RNA	NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog	250					bone resorption (GO:0045453)|camera-type eye photoreceptor cell fate commitment (GO:0060220)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|chondrocyte proliferation (GO:0035988)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint development (GO:0072498)|epithelial cell morphogenesis (GO:0003382)|epithelial cell-cell adhesion (GO:0090136)|head morphogenesis (GO:0060323)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intein-mediated protein splicing (GO:0016539)|maternal process involved in female pregnancy (GO:0060135)|multicellular organism growth (GO:0035264)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of eye pigmentation (GO:0048074)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell differentiation in thymus (GO:0033085)|neuron development (GO:0048666)|osteoblast differentiation (GO:0001649)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteoglycan metabolic process (GO:0006029)|regulation of growth (GO:0040008)|response to estradiol (GO:0032355)|retinal pigment epithelium development (GO:0003406)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|somite development (GO:0061053)|vitelline membrane formation (GO:0030704)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|patched binding (GO:0005113)|peptidase activity (GO:0008233)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGTGAGGCTCGCGGTCCAGG	0.642																																							uc002vjo.1		NA																	0				breast(1)	1						c.(748-750)GAG>TAG		Indian hedgehog homolog precursor							56.0	59.0	58.0					2																	219920417		2203	4300	6503	SO:0001587	stop_gained	3549				cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity	g.chr2:219920417C>A	L38517	CCDS33380.1	2q33-q35	2013-02-15	2013-02-15		ENSG00000163501	ENSG00000163501			5956	protein-coding gene	gene with protein product		600726	"""Indian hedgehog (Drosophila) homolog"", ""Indian hedgehog homolog (Drosophila)"""			7590746, 14770182	Standard	NM_002181		Approved	HHG2, BDA1	uc002vjo.2	Q14623	OTTHUMG00000154631	ENST00000295731.6:c.748G>T	2.37:g.219920417C>A	ENSP00000295731:p.Glu250*						p.E250*	NM_002181	NP_002172	Q14623	IHH_HUMAN		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	748	-		Renal(207;0.0915)	250					B9EGM5|O43322|Q8N4B9	Nonsense_Mutation	SNP	ENST00000295731.6	37	c.748G>T	CCDS33380.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.672649	0.67928	.	.	ENSG00000163501	ENST00000295731	.	.	.	4.89	2.92	0.33932	.	0.308196	0.34959	N	0.003550	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-25.7208	14.0129	0.64507	0.0:0.5679:0.4321:0.0	.	.	.	.	X	250	.	ENSP00000295731:E250X	E	-	1	0	IHH	219628661	0.071000	0.21146	0.717000	0.30585	0.873000	0.50193	0.497000	0.22514	1.013000	0.39391	0.561000	0.74099	GAG		0.642	IHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336408.2	NM_002181		26	13	1	0	2.85442e-18	0.002096	4.65408e-18	26	13				
TUBA4B	80086	broad.mit.edu	37	2	220136173	220136173	+	RNA	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:220136173C>A	ENST00000490341.1	+	0	643					NR_003063.1		Q9H853	TBA4B_HUMAN	tubulin, alpha 4b (pseudogene)						microtubule-based process (GO:0007017)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|structural constituent of cytoskeleton (GO:0005200)										AGACATCGAGCGCCCAACCTA	0.532																																							uc002vkv.1		NA																	0					0						c.(478-480)CGC>AGC		RecName: Full=Putative tubulin-like protein alpha-4B; AltName: Full=Alpha-tubulin 4B;																																						80086							g.chr2:220136173C>A	AK024002		2q35	2014-03-20	2007-03-16	2007-02-12	ENSG00000243910	ENSG00000243910		"""Tubulins"""	18637	pseudogene	pseudogene			"""tubulin, alpha 4"", ""tubulin, alpha 4b"""	TUBA4		3785200	Standard	NR_003063		Approved	FLJ13940	uc002vkv.1	Q9H853	OTTHUMG00000154516		2.37:g.220136173C>A						TUBA4B_uc002vku.2_Intron	p.R160S	NR_003063						4	643	+									Missense_Mutation	SNP	ENST00000490341.1	37	c.478C>A																																																																																					0.532	TUBA4B-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000335637.1	NR_003063		16	63	1	0	3.51602e-12	0.008871	5.14092e-12	16	63				
SPEG	10290	broad.mit.edu	37	2	220329177	220329177	+	Missense_Mutation	SNP	C	C	A	rs539214212		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:220329177C>A	ENST00000312358.7	+	9	2860	c.2728C>A	c.(2728-2730)Cgc>Agc	p.R910S	SPEG_ENST00000396689.2_Missense_Mutation_p.R61S|SPEG_ENST00000396698.1_Missense_Mutation_p.R806S|SPEG_ENST00000396695.2_Missense_Mutation_p.R118S|SPEG_ENST00000485813.1_3'UTR|SPEG_ENST00000396688.1_Missense_Mutation_p.R61S|SPEG_ENST00000396686.1_Missense_Mutation_p.R61S	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	910	Ig-like 3.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCAGCCCGTGCGCCCAGACCA	0.657																																							uc010fwg.2		NA																	0				stomach(9)|ovary(4)|central_nervous_system(1)	14						c.(2728-2730)CGC>AGC		SPEG complex locus							54.0	61.0	59.0					2																	220329177		2061	4197	6258	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220329177C>A	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.2728C>A	2.37:g.220329177C>A	ENSP00000311684:p.Arg910Ser					SPEG_uc002vlm.2_RNA|SPEG_uc010fwh.1_Missense_Mutation_p.R118S|SPEG_uc002vln.1_Missense_Mutation_p.R118S|SPEG_uc002vlp.1_Missense_Mutation_p.R118S|SPEG_uc002vlq.2_Missense_Mutation_p.R61S	p.R910S	NM_005876	NP_005867	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	9	2728	+		Renal(207;0.0183)	910			Ig-like 3.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.2728C>A	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.060921	0.76074	.	.	ENSG00000072195	ENST00000312358;ENST00000265327;ENST00000396698;ENST00000396695;ENST00000396688;ENST00000396686;ENST00000396689	T;T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22;-0.22	5.1	5.1	0.69264	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.40640	N	0.001052	T	0.60025	0.2237	N	0.04275	-0.24	0.40920	D	0.984303	D;P;D	0.65815	0.983;0.897;0.995	P;P;D	0.66979	0.866;0.618;0.948	T	0.63111	-0.6710	10	0.30854	T	0.27	.	11.3349	0.49498	0.2308:0.7692:0.0:0.0	.	910;118;806	Q15772;Q15772-3;B9ZVR7	SPEG_HUMAN;.;.	S	910;910;806;118;61;61;61	ENSP00000311684:R910S;ENSP00000379926:R806S;ENSP00000379923:R118S;ENSP00000379919:R61S;ENSP00000379917:R61S;ENSP00000379920:R61S	ENSP00000265327:R910S	R	+	1	0	SPEG	220037421	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	5.347000	0.65998	2.381000	0.81170	0.561000	0.74099	CGC		0.657	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		19	55	1	0	3.08376e-08	0.00333	4.02595e-08	19	55				
MRPL44	65080	broad.mit.edu	37	2	224822340	224822340	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:224822340C>T	ENST00000258383.3	+	1	220	c.151C>T	c.(151-153)Ctg>Ttg	p.L51L		NM_022915.3	NP_075066.1	Q9H9J2	RM44_HUMAN	mitochondrial ribosomal protein L44	51					mitochondrial translational elongation (GO:0070125)|RNA processing (GO:0006396)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)		GCAGCGCCTTCTGCGGTGCCC	0.697																																							uc002vnr.3		NA																	0				central_nervous_system(1)	1						c.(151-153)CTG>TTG		mitochondrial ribosomal protein L44 precursor							12.0	14.0	13.0					2																	224822340		2196	4295	6491	SO:0001819	synonymous_variant	65080				RNA processing	mitochondrion|ribosome	double-stranded RNA binding|protein binding|ribonuclease III activity	g.chr2:224822340C>T	AK022763	CCDS2459.1	2p24.3-p24.1	2012-09-13			ENSG00000135900	ENSG00000135900		"""Mitochondrial ribosomal proteins / large subunits"""	16650	protein-coding gene	gene with protein product	"""39S ribosomal protein L44, mitochondrial"""	611849					Standard	NM_022915		Approved	FLJ12701, FLJ13990	uc002vnr.4	Q9H9J2	OTTHUMG00000133164	ENST00000258383.3:c.151C>T	2.37:g.224822340C>T							p.L51L	NM_022915	NP_075066	Q9H9J2	RM44_HUMAN		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	220	+		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)	51					Q53S16|Q6IA62|Q9H821	Silent	SNP	ENST00000258383.3	37	c.151C>T	CCDS2459.1																																																																																				0.697	MRPL44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256866.2	NM_022915		4	12	0	0	0	0.009096	0	4	12				
SERPINE2	5270	broad.mit.edu	37	2	224862913	224862913	+	Missense_Mutation	SNP	A	A	G	rs11548971		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:224862913A>G	ENST00000258405.4	-	3	648	c.406T>C	c.(406-408)Tgt>Cgt	p.C136R	SERPINE2_ENST00000447280.2_Missense_Mutation_p.C148R|SERPINE2_ENST00000409304.1_Missense_Mutation_p.C136R|SERPINE2_ENST00000409840.3_Missense_Mutation_p.C136R	NM_001136528.1|NM_006216.3	NP_001130000.1|NP_006207.1	P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	136					blood coagulation (GO:0007596)|cerebellar granular layer morphogenesis (GO:0021683)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|innervation (GO:0060384)|long-term synaptic potentiation (GO:0060291)|mating plug formation (GO:0042628)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein processing (GO:0010955)|negative regulation of proteolysis (GO:0045861)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of sodium ion transport (GO:0010766)|positive regulation of astrocyte differentiation (GO:0048711)|regulation of cell migration (GO:0030334)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of timing of cell differentiation (GO:0048505)|secretion by cell (GO:0032940)|secretory granule organization (GO:0033363)|seminal vesicle epithelium development (GO:0061108)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|neuromuscular junction (GO:0031594)|platelet alpha granule (GO:0031091)|vesicle (GO:0031982)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CGGACCTCACACTGGAACACA	0.448																																							uc002vnu.2		NA																	0				breast(2)|ovary(1)|central_nervous_system(1)	4						c.(406-408)TGT>CGT		plasminogen activator inhibitor type 1, member 2							110.0	98.0	102.0					2																	224862913		2203	4300	6503	SO:0001583	missense	5270				negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity	g.chr2:224862913A>G	M17783	CCDS2460.1, CCDS46525.1, CCDS46526.1	2q36.1	2014-02-18	2005-08-18		ENSG00000135919	ENSG00000135919		"""Serine (or cysteine) peptidase inhibitors"""	8951	protein-coding gene	gene with protein product	"""glial-derived nexin 1"""	177010	"""serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2"""	PI7		7665170, 24172014	Standard	NM_006216		Approved	PN1, GDN, PNI, nexin	uc002vnu.2	P07093	OTTHUMG00000133163	ENST00000258405.4:c.406T>C	2.37:g.224862913A>G	ENSP00000258405:p.Cys136Arg					SERPINE2_uc002vnt.2_Missense_Mutation_p.C136R|SERPINE2_uc010zlr.1_Missense_Mutation_p.C148R|SERPINE2_uc002vnv.2_Missense_Mutation_p.C136R	p.C136R	NM_006216	NP_006207	P07093	GDN_HUMAN		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)	3	649	-		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)	136					B2R6A4|B4DIF2|Q53S15|Q5D0C4	Missense_Mutation	SNP	ENST00000258405.4	37	c.406T>C	CCDS2460.1	.	.	.	.	.	.	.	.	.	.	A	11.45	1.643059	0.29246	.	.	ENSG00000135919	ENST00000409304;ENST00000258405;ENST00000409840;ENST00000447280;ENST00000432738	D;D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78;-1.78	5.92	4.76	0.60689	Serpin domain (3);	0.091356	0.85682	D	0.000000	D	0.87462	0.6183	L	0.61036	1.89	0.80722	D	1	D;D	0.53312	0.959;0.959	P;P	0.60609	0.877;0.877	D	0.87592	0.2491	10	0.87932	D	0	.	10.6016	0.45371	0.7431:0.0:0.0:0.2569	.	148;136	B4DIF2;P07093	.;GDN_HUMAN	R	136;136;136;148;136	ENSP00000386412:C136R;ENSP00000258405:C136R;ENSP00000386969:C136R;ENSP00000415786:C148R;ENSP00000408452:C136R	ENSP00000258405:C136R	C	-	1	0	SERPINE2	224571157	1.000000	0.71417	0.989000	0.46669	0.263000	0.26337	4.265000	0.58865	1.069000	0.40788	-0.265000	0.10407	TGT		0.448	SERPINE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256865.2	NM_006216		9	32	0	0	0	0.008291	0	9	32				
COL4A4	1286	broad.mit.edu	37	2	227886843	227886843	+	Silent	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:227886843T>A	ENST00000396625.3	-	44	4344	c.4137A>T	c.(4135-4137)ccA>ccT	p.P1379P	COL4A4_ENST00000329662.7_Silent_p.P1376P	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1379	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CAGGAAGGCCTGGGATTCGGG	0.582																																							uc010zlt.1		NA																	0				ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11						c.(4135-4137)CCA>CCT		alpha 4 type IV collagen precursor							137.0	145.0	143.0					2																	227886843		1907	4105	6012	SO:0001819	synonymous_variant	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227886843T>A		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.4137A>T	2.37:g.227886843T>A							p.P1379P	NM_000092	NP_000083	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	43	4791	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	1379			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Silent	SNP	ENST00000396625.3	37	c.4137A>T	CCDS42828.1																																																																																				0.582	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		43	160	0	0	0	0.00361	0	43	160				
DNER	92737	broad.mit.edu	37	2	230456418	230456418	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:230456418G>T	ENST00000341772.4	-	2	597	c.463C>A	c.(463-465)Cct>Act	p.P155T		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	155					central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		GCAGGAACAGGCTGAAGCTGT	0.557																																							uc002vpv.2		NA																	0				lung(5)|ovary(2)|skin(1)	8						c.(463-465)CCT>ACT		delta-notch-like EGF repeat-containing							85.0	72.0	76.0					2																	230456418		2203	4300	6503	SO:0001583	missense	92737				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	g.chr2:230456418G>T	AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.463C>A	2.37:g.230456418G>T	ENSP00000345229:p.Pro155Thr						p.P155T	NM_139072	NP_620711	Q8NFT8	DNER_HUMAN		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)	2	610	-		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)	155			Extracellular (Potential).		A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Missense_Mutation	SNP	ENST00000341772.4	37	c.463C>A	CCDS33390.1	.	.	.	.	.	.	.	.	.	.	G	19.91	3.913860	0.72983	.	.	ENSG00000187957	ENST00000341772	D	0.87029	-2.2	5.69	4.81	0.61882	.	0.108819	0.64402	D	0.000006	T	0.78685	0.4322	L	0.27053	0.805	0.58432	D	0.999999	P	0.48589	0.912	B	0.41412	0.356	T	0.75777	-0.3198	10	0.11182	T	0.66	.	14.4588	0.67435	0.0707:0.0:0.9293:0.0	.	155	Q8NFT8	DNER_HUMAN	T	155	ENSP00000345229:P155T	ENSP00000345229:P155T	P	-	1	0	DNER	230164662	1.000000	0.71417	0.996000	0.52242	0.699000	0.40488	2.865000	0.48412	1.400000	0.46741	0.655000	0.94253	CCT		0.557	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1	NM_139072		8	51	1	0	2.17888e-05	0.006214	2.52532e-05	8	51				
ARMC9	80210	broad.mit.edu	37	2	232156095	232156095	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:232156095C>G	ENST00000349938.4	+	18	1850	c.1656C>G	c.(1654-1656)atC>atG	p.I552M	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	552						extracellular vesicular exosome (GO:0070062)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		GCTGCTTCATCAAAGAAGGCA	0.388																																							uc002vrq.3		NA																	0				ovary(1)	1						c.(1654-1656)ATC>ATG		armadillo repeat containing 9							160.0	154.0	156.0					2																	232156095		2203	4300	6503	SO:0001583	missense	80210						binding	g.chr2:232156095C>G	BC004514	CCDS2484.1, CCDS74666.1	2q37.1	2013-02-14			ENSG00000135931	ENSG00000135931		"""Armadillo repeat containing"""	20730	protein-coding gene	gene with protein product						11347906	Standard	NM_025139		Approved	FLJ12584, KIAA1868, ARM, KU-MEL-1	uc031rrs.1	Q7Z3E5	OTTHUMG00000133229	ENST00000349938.4:c.1656C>G	2.37:g.232156095C>G	ENSP00000258417:p.Ile552Met					ARMC9_uc002vrp.3_Missense_Mutation_p.I552M|ARMC9_uc002vrr.1_RNA	p.I552M	NM_025139	NP_079415	Q7Z3E5	ARMC9_HUMAN		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)	18	1768	+		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)	552					Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	Missense_Mutation	SNP	ENST00000349938.4	37	c.1656C>G	CCDS2484.1	.	.	.	.	.	.	.	.	.	.	C	7.655	0.683645	0.14907	.	.	ENSG00000135931	ENST00000349938;ENST00000359743	T	0.17054	2.3	5.74	4.86	0.63082	Armadillo-like helical (1);Armadillo-type fold (1);	0.261765	0.42420	N	0.000708	T	0.07728	0.0194	N	0.04203	-0.255	0.35402	D	0.791693	B	0.16166	0.016	B	0.17722	0.019	T	0.21759	-1.0236	10	0.29301	T	0.29	-16.0038	8.2012	0.31426	0.0:0.7576:0.1599:0.0825	.	552	Q7Z3E5	ARMC9_HUMAN	M	552	ENSP00000258417:I552M	ENSP00000258417:I552M	I	+	3	3	ARMC9	231864339	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.459000	0.45023	1.404000	0.46819	0.655000	0.94253	ATC		0.388	ARMC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256966.3	NM_025139		24	153	0	0	0	0.002836	0	24	153				
ALPI	248	broad.mit.edu	37	2	233321707	233321707	+	Silent	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:233321707A>T	ENST00000295463.3	+	4	476	c.399A>T	c.(397-399)gcA>gcT	p.A133A		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	133					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GCTTGAGTGCAGCCGCCCGCT	0.617																																							uc002vst.3		NA																	0				central_nervous_system(1)	1						c.(397-399)GCA>GCT		intestinal alkaline phosphatase precursor							65.0	50.0	55.0					2																	233321707		2203	4300	6503	SO:0001819	synonymous_variant	248				phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding	g.chr2:233321707A>T	M15694	CCDS2492.1	2q37.1	2008-02-05			ENSG00000163295	ENSG00000163295	3.1.3.1		437	protein-coding gene	gene with protein product		171740				3468508, 3469665	Standard	NM_001631		Approved		uc002vst.4	P09923	OTTHUMG00000133258	ENST00000295463.3:c.399A>T	2.37:g.233321707A>T						ALPI_uc002vsu.3_Silent_p.A44A	p.A133A	NM_001631	NP_001622	P09923	PPBI_HUMAN		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)	4	476	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	133					B2R7Y4|Q53S80|Q9UBV5|Q9UCL2	Silent	SNP	ENST00000295463.3	37	c.399A>T	CCDS2492.1																																																																																				0.617	ALPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257035.2	NM_001631		6	47	0	0	0	0.001984	0	6	47				
CHRND	1144	broad.mit.edu	37	2	233393274	233393274	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:233393274G>T	ENST00000258385.3	+	5	449	c.417G>T	c.(415-417)gtG>gtT	p.V139V	CHRND_ENST00000543200.1_Silent_p.V124V|CHRND_ENST00000457943.2_Missense_Mutation_p.C49F|CHRND_ENST00000536614.1_Silent_p.V139V	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	139					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|musculoskeletal movement (GO:0050881)|neuromuscular process (GO:0050905)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	Galantamine(DB00674)	ACGGCTTCGTGTACTGGCTGC	0.577																																							uc002vsw.2		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(415-417)GTG>GTT		nicotinic acetylcholine receptor delta							184.0	169.0	174.0					2																	233393274		2203	4300	6503	SO:0001819	synonymous_variant	1144				muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	g.chr2:233393274G>T	X55019	CCDS2494.1, CCDS58754.1	2q37.1	2012-02-11	2012-02-07		ENSG00000135902	ENSG00000135902		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1965	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, delta (muscle)"""	100720	"""cholinergic receptor, nicotinic, delta"""	ACHRD			Standard	NM_000751		Approved		uc002vsw.4	Q07001	OTTHUMG00000133261	ENST00000258385.3:c.417G>T	2.37:g.233393274G>T						CHRND_uc010zmg.1_Silent_p.V124V|CHRND_uc010fyc.2_Missense_Mutation_p.C49F|CHRND_uc010zmh.1_Missense_Mutation_p.C49F	p.V139V	NM_000751	NP_000742	Q07001	ACHD_HUMAN		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	5	421	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	139			Extracellular (Potential).		A8K661|B4DT92|Q52LH4	Silent	SNP	ENST00000258385.3	37	c.417G>T	CCDS2494.1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.914454	0.33815	.	.	ENSG00000135902	ENST00000457943	D	0.86297	-2.1	4.29	1.24	0.21308	.	.	.	.	.	T	0.81446	0.4824	.	.	.	0.26128	N	0.98046	B	0.10296	0.003	B	0.11329	0.006	T	0.72613	-0.4240	8	0.62326	D	0.03	.	10.7152	0.46008	0.082:0.3175:0.6005:0.0	.	49	B4E3W4	.	F	49	ENSP00000391055:C49F	ENSP00000391055:C49F	C	+	2	0	CHRND	233101518	0.923000	0.31300	0.994000	0.49952	0.727000	0.41649	-0.103000	0.10940	0.567000	0.29293	0.561000	0.74099	TGT		0.577	CHRND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257038.2			95	102	1	0	8.26238e-36	0.00361	1.50197e-35	95	102				
CHRND	1144	broad.mit.edu	37	2	233393335	233393335	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:233393335T>A	ENST00000258385.3	+	5	510	c.478T>A	c.(478-480)Ttc>Atc	p.F160I	CHRND_ENST00000543200.1_Missense_Mutation_p.F145I|CHRND_ENST00000457943.2_Silent_p.P69P|CHRND_ENST00000536614.1_Missense_Mutation_p.F160I	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	160					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|musculoskeletal movement (GO:0050881)|neuromuscular process (GO:0050905)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	Galantamine(DB00674)	CTATTTCCCCTTCGACTGGCA	0.577																																							uc002vsw.2		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(478-480)TTC>ATC		nicotinic acetylcholine receptor delta							157.0	139.0	145.0					2																	233393335		2203	4300	6503	SO:0001583	missense	1144				muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	g.chr2:233393335T>A	X55019	CCDS2494.1, CCDS58754.1	2q37.1	2012-02-11	2012-02-07		ENSG00000135902	ENSG00000135902		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1965	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, delta (muscle)"""	100720	"""cholinergic receptor, nicotinic, delta"""	ACHRD			Standard	NM_000751		Approved		uc002vsw.4	Q07001	OTTHUMG00000133261	ENST00000258385.3:c.478T>A	2.37:g.233393335T>A	ENSP00000258385:p.Phe160Ile					CHRND_uc010zmg.1_Missense_Mutation_p.F145I|CHRND_uc010fyc.2_Silent_p.P69P|CHRND_uc010zmh.1_Silent_p.P69P	p.F160I	NM_000751	NP_000742	Q07001	ACHD_HUMAN		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	5	482	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	160			Extracellular (Potential).		A8K661|B4DT92|Q52LH4	Missense_Mutation	SNP	ENST00000258385.3	37	c.478T>A	CCDS2494.1	.	.	.	.	.	.	.	.	.	.	T	34	5.326542	0.95708	.	.	ENSG00000135902	ENST00000449596;ENST00000543200;ENST00000258385;ENST00000536614	D;D;D;D	0.81579	-1.51;-1.51;-1.51;-1.51	4.29	4.29	0.51040	Neurotransmitter-gated ion-channel ligand-binding (3);Neurotransmitter-gated ion-channel, conserved site (1);	0.180201	0.49305	D	0.000145	D	0.92825	0.7718	H	0.98612	4.28	0.80722	D	1	D;D	0.65815	0.995;0.981	D;P	0.63283	0.913;0.858	D	0.95304	0.8406	10	0.87932	D	0	.	13.932	0.64001	0.0:0.0:0.0:1.0	.	145;160	B4DT92;Q07001	.;ACHD_HUMAN	I	145;145;160;160	ENSP00000404950:F145I;ENSP00000438380:F145I;ENSP00000258385:F160I;ENSP00000437740:F160I	ENSP00000258385:F160I	F	+	1	0	CHRND	233101579	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.827000	0.86722	1.953000	0.56701	0.459000	0.35465	TTC		0.577	CHRND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257038.2			17	103	0	0	0	0.00278	0	17	103				
NGEF	25791	broad.mit.edu	37	2	233791856	233791857	+	Nonsense_Mutation	DNP	CC	CC	AA			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:233791856_233791857CC>AA	ENST00000264051.3	-	4	701_702	c.423_424GG>TT	c.(421-426)gaGGag>gaTTag	p.141_142EE>D*	NGEF_ENST00000409079.1_Nonsense_Mutation_p.49_50EE>D*|NGEF_ENST00000373552.4_Nonsense_Mutation_p.49_50EE>D*	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	141	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42. {ECO:0000250}.				apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GCCGGCCACTCCTCGGGCGTGG	0.629																																							uc002vts.2		NA																	0				ovary(3)|central_nervous_system(3)|skin(1)	7						c.(421-426)GAGGAG>GATTAG		neuronal guanine nucleotide exchange factor																																				SO:0001587	stop_gained	25791				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr2:233791856_233791857CC>AA	AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"""Rho guanine nucleotide exchange factors"""	7807	protein-coding gene	gene with protein product	"""ephexin"""	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.423_424delinsAA	2.37:g.233791856_233791857delinsAA	ENSP00000264051:p.E141_E142delinsD*					NGEF_uc010fyg.1_Nonsense_Mutation_p.49_50EE>D*|NGEF_uc002vtt.2_Nonsense_Mutation_p.49_50EE>D*	p.141_142EE>D*	NM_019850	NP_062824	Q8N5V2	NGEF_HUMAN		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)	4	671_672	-		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	141_142			Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).		B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Nonsense_Mutation	DNP	ENST00000264051.3	37	c.423_424GG>TT	CCDS2500.1																																																																																				0.629	NGEF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257051.2	XM_044799		10	48	0	0	0	0.004672	0	10	48				
NGEF	25791	broad.mit.edu	37	2	233839474	233839474	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:233839474G>C	ENST00000264051.3	-	2	405	c.127C>G	c.(127-129)Caa>Gaa	p.Q43E		NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	43	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42. {ECO:0000250}.				apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		TGGTCAGCTTGAGAAGTCTCC	0.443																																							uc002vts.2		NA																	0				ovary(3)|central_nervous_system(3)|skin(1)	7						c.(127-129)CAA>GAA		neuronal guanine nucleotide exchange factor							285.0	260.0	269.0					2																	233839474		2203	4300	6503	SO:0001583	missense	25791				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr2:233839474G>C	AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"""Rho guanine nucleotide exchange factors"""	7807	protein-coding gene	gene with protein product	"""ephexin"""	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.127C>G	2.37:g.233839474G>C	ENSP00000264051:p.Gln43Glu						p.Q43E	NM_019850	NP_062824	Q8N5V2	NGEF_HUMAN		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)	2	375	-		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	43			Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).		B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Missense_Mutation	SNP	ENST00000264051.3	37	c.127C>G	CCDS2500.1	.	.	.	.	.	.	.	.	.	.	G	5.681	0.310262	0.10733	.	.	ENSG00000066248	ENST00000264051	T	0.66280	-0.2	5.12	-7.01	0.01594	.	6.438360	0.00166	N	0.000013	T	0.30135	0.0755	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47611	-0.9104	10	0.02654	T	1	2.0696	7.6416	0.28296	0.4035:0.4353:0.1612:0.0	.	43	Q8N5V2	NGEF_HUMAN	E	43	ENSP00000264051:Q43E	ENSP00000264051:Q43E	Q	-	1	0	NGEF	233547718	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.840000	0.04363	-1.228000	0.02568	-0.345000	0.07892	CAA		0.443	NGEF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257051.2	XM_044799		21	80	0	0	0	0.001882	0	21	80				
ATG16L1	55054	broad.mit.edu	37	2	234191392	234191392	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:234191392G>C	ENST00000392017.4	+	12	1453	c.1196G>C	c.(1195-1197)cGa>cCa	p.R399P	ATG16L1_ENST00000347464.5_Missense_Mutation_p.R236P|ATG16L1_ENST00000498620.1_3'UTR|ATG16L1_ENST00000392020.4_Missense_Mutation_p.R380P|ATG16L1_ENST00000392018.1_Missense_Mutation_p.R416P|ATG16L1_ENST00000373525.5_Missense_Mutation_p.R220P	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	399					autophagic vacuole assembly (GO:0000045)|negative stranded viral RNA replication (GO:0039689)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|axoneme (GO:0005930)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		GATGATTATCGATTACGGGTA	0.413																																							uc002vty.2		NA																	0					0						c.(1195-1197)CGA>CCA		APG16 autophagy 16-like isoform 1							132.0	124.0	127.0					2																	234191392		2203	4300	6503	SO:0001583	missense	55054				autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding	g.chr2:234191392G>C	AK000897	CCDS2502.2, CCDS2503.2, CCDS54438.1	2q37.1	2014-02-12	2012-06-06	2005-09-13	ENSG00000085978	ENSG00000085978		"""WD repeat domain containing"""	21498	protein-coding gene	gene with protein product		610767	"""APG16 autophagy 16-like (S. cerevisiae)"", ""ATG16 autophagy related 16-like (S. cerevisiae)"", ""ATG16 autophagy related 16-like 1 (S. cerevisiae)"""	APG16L, ATG16L			Standard	NM_017974		Approved	WDR30, FLJ10035, ATG16A	uc002vty.3	Q676U5	OTTHUMG00000133619	ENST00000392017.4:c.1196G>C	2.37:g.234191392G>C	ENSP00000375872:p.Arg399Pro					ATG16L1_uc002vtx.1_Missense_Mutation_p.R236P|ATG16L1_uc002vua.2_Missense_Mutation_p.R380P|ATG16L1_uc002vub.2_Missense_Mutation_p.R257P|ATG16L1_uc002vtz.2_Missense_Mutation_p.R220P|ATG16L1_uc002vud.3_Missense_Mutation_p.R315P	p.R399P	NM_030803	NP_110430	Q676U5	A16L1_HUMAN		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)	12	1453	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)	399			WD 2.		A3EXK9|A3EXL0|B6ZDH0|Q6IPN1|Q6UXW4|Q6ZVZ5|Q8NCY2|Q96JV5|Q9H619	Missense_Mutation	SNP	ENST00000392017.4	37	c.1196G>C	CCDS2503.2	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335658	0.81801	.	.	ENSG00000085978	ENST00000392017;ENST00000347464;ENST00000373525;ENST00000392020;ENST00000392018;ENST00000334050	T;T;T;T;T	0.19532	2.14;2.14;2.14;2.14;2.14	5.82	4.95	0.65309	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.114896	0.56097	D	0.000029	T	0.49167	0.1541	M	0.85710	2.77	0.80722	D	1	D;D;D;D;D	0.71674	0.993;0.988;0.997;0.991;0.998	D;P;D;P;D	0.74674	0.984;0.83;0.97;0.894;0.982	T	0.54529	-0.8280	10	0.51188	T	0.08	.	13.1516	0.59492	0.0739:0.0:0.9261:0.0	.	353;380;220;399;236	B7ZLM5;Q676U5-2;Q676U5-4;Q676U5;A3EXL0	.;.;.;A16L1_HUMAN;.	P	399;236;220;380;416;58	ENSP00000375872:R399P;ENSP00000318259:R236P;ENSP00000362625:R220P;ENSP00000375875:R380P;ENSP00000375873:R416P	ENSP00000334016:R58P	R	+	2	0	ATG16L1	233856131	1.000000	0.71417	0.991000	0.47740	0.969000	0.65631	8.423000	0.90264	1.463000	0.47967	0.655000	0.94253	CGA		0.413	ATG16L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257069.2	NM_017974		39	30	0	0	0	0.002852	0	39	30				
UGT1A1	54658	broad.mit.edu	37	2	234526798	234526799	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:234526798_234526799CC>AA	ENST00000373450.4	+	1	508_509	c.445_446CC>AA	c.(445-447)CCt>AAt	p.P149N		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	152					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	GTTTCTTGATCCTTTTGATGCC	0.396																																							uc002vup.2		NA																	0				ovary(2)	2						c.(445-447)CCT>AAT		UDP glycosyltransferase 1 family, polypeptide A8																																				SO:0001583	missense	54576				drug metabolic process|fatty acid metabolic process|flavone metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme inhibitor activity|fatty acid binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|steroid binding	g.chr2:234526798_234526799CC>AA	M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"""UDP glucuronosyltransferases"""	12530	other	complex locus constituent		191740	"""UDP glycosyltransferase 1 family, polypeptide A1"""	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	Exception_encountered	2.37:g.234526798_234526799delinsAA	ENSP00000362549:p.Pro149Asn					UGT1A8_uc010zmv.1_Missense_Mutation_p.P149N	p.P149N	NM_019076	NP_061949	Q9HAW9	UD18_HUMAN		Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	508_509	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)	149					A6NJC3|B8K286	Missense_Mutation	DNP	ENST00000373450.4	37	c.445_446CC>AA	CCDS33402.1																																																																																				0.396	UGT1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130994.1			21	102	0	0	0	0.004672	0	21	102				
TRPM8	79054	broad.mit.edu	37	2	234878934	234878934	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:234878934G>T	ENST00000324695.4	+	17	2259	c.2219G>T	c.(2218-2220)tGg>tTg	p.W740L	TRPM8_ENST00000433712.2_Intron	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	740					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GTCTTCTCCTGGAATGTGGTC	0.552																																							uc002vvh.2		NA																	0				skin(4)	4						c.(2218-2220)TGG>TTG		transient receptor potential cation channel,	Menthol(DB00825)						456.0	394.0	415.0					2																	234878934		2203	4300	6503	SO:0001583	missense	79054					integral to membrane		g.chr2:234878934G>T	AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.2219G>T	2.37:g.234878934G>T	ENSP00000323926:p.Trp740Leu					TRPM8_uc010fyj.2_Intron	p.W740L	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	17	2259	+		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)	740			Helical; Name=2; (Potential).		A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Missense_Mutation	SNP	ENST00000324695.4	37	c.2219G>T	CCDS33407.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.570182	0.28003	.	.	ENSG00000144481	ENST00000324695	T	0.62498	0.02	4.72	4.72	0.59763	.	0.000000	0.64402	D	0.000017	T	0.64091	0.2567	N	0.25380	0.74	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.57400	-0.7818	10	0.02654	T	1	-12.5111	16.6947	0.85332	0.0:0.0:1.0:0.0	.	740	Q7Z2W7	TRPM8_HUMAN	L	740	ENSP00000323926:W740L	ENSP00000323926:W740L	W	+	2	0	TRPM8	234543673	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.535000	0.82014	2.357000	0.79964	0.558000	0.71614	TGG		0.552	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080		142	150	1	0	3.38734e-80	0.00361	6.35982e-80	142	150				
ASB18	401036	broad.mit.edu	37	2	237172851	237172851	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:237172851C>T	ENST00000409749.3	-	1	137	c.138G>A	c.(136-138)gtG>gtA	p.V46V	AC079135.1_ENST00000415226.1_RNA	NM_212556.2	NP_997721.2	Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box containing 18	46					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		CCAGTTCTATCACAGCGTCCA	0.512																																							uc010znh.1		NA																	0				ovary(1)	1						c.(136-138)GTG>GTA		ankyrin repeat and SOCS box-containing 18							104.0	101.0	102.0					2																	237172851		2058	4208	6266	SO:0001819	synonymous_variant	401036				intracellular signal transduction			g.chr2:237172851C>T	AK123854	CCDS46548.1	2q37.2	2013-01-10	2011-01-25		ENSG00000182177	ENSG00000182177		"""Ankyrin repeat domain containing"""	19770	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 18"""			12076535	Standard	NM_212556		Approved		uc010znh.2	Q6ZVZ8	OTTHUMG00000153086	ENST00000409749.3:c.138G>A	2.37:g.237172851C>T							p.V46V	NM_212556	NP_997721	Q6ZVZ8	ASB18_HUMAN		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)	1	138	-		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)	46					B6ZDL7	Silent	SNP	ENST00000409749.3	37	c.138G>A	CCDS46548.1																																																																																				0.512	ASB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329436.1	NM_212556		8	35	0	0	0	0.00308	0	8	35				
COL6A3	1293	broad.mit.edu	37	2	238244935	238244935	+	Silent	SNP	C	C	A	rs193262655	byFrequency	TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:238244935C>A	ENST00000295550.4	-	40	9260	c.8808G>T	c.(8806-8808)gtG>gtT	p.V2936V	COL6A3_ENST00000472056.1_Silent_p.V2329V|COL6A3_ENST00000409809.1_Silent_p.V2730V|COL6A3_ENST00000346358.4_Silent_p.V2736V|COL6A3_ENST00000353578.4_Silent_p.V2730V|COL6A3_ENST00000347401.3_Silent_p.V2735V	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2936	Ala-rich.|Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTGCTGGCTTCACCGCCACTG	0.627																																							uc002vwl.2		NA																	0				ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(8806-8808)GTG>GTT		alpha 3 type VI collagen isoform 1 precursor							48.0	58.0	54.0					2																	238244935		2203	4300	6503	SO:0001819	synonymous_variant	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238244935C>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.8808G>T	2.37:g.238244935C>A						COL6A3_uc002vwo.2_Silent_p.V2730V|COL6A3_uc010znj.1_Silent_p.V2329V|COL6A3_uc002vwj.2_Silent_p.V317V	p.V2936V	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	40	9093	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	2936			Nonhelical region.|Ala-rich.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	c.8808G>T	CCDS33412.1																																																																																				0.627	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		35	41	1	0	1.60099e-16	0.004878	2.55436e-16	35	41				
KIF1A	547	broad.mit.edu	37	2	241715308	241715308	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:241715308G>A	ENST00000320389.7	-	11	1076	c.918C>T	c.(916-918)taC>taT	p.Y306Y	KIF1A_ENST00000498729.2_Silent_p.Y306Y	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	306	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CGGAATCTCGGTACGGAATGA	0.567																																							uc002vzy.2		NA																	0				lung(1)	1						c.(916-918)TAC>TAT		axonal transport of synaptic vesicles							114.0	124.0	121.0					2																	241715308		1971	4142	6113	SO:0001819	synonymous_variant	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241715308G>A	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.918C>T	2.37:g.241715308G>A						KIF1A_uc010fzk.2_Silent_p.Y306Y|KIF1A_uc002vzz.1_Silent_p.Y306Y	p.Y306Y	NM_004321	NP_004312	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	11	1064	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	306			Kinesin-motor.		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Silent	SNP	ENST00000320389.7	37	c.918C>T	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	g	7.775	0.708275	0.15239	.	.	ENSG00000130294	ENST00000428768	.	.	.	4.05	3.17	0.36434	.	.	.	.	.	T	0.59004	0.2162	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54186	-0.8331	4	.	.	.	.	9.3829	0.38325	0.1772:0.0:0.8228:0.0	.	.	.	.	S	114	.	.	P	-	1	0	KIF1A	241363981	1.000000	0.71417	0.953000	0.39169	0.888000	0.51559	2.681000	0.46926	0.826000	0.34661	-0.359000	0.07587	CCG		0.567	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		3	48	0	0	0	0.009096	0	3	48				
PASK	23178	broad.mit.edu	37	2	242066662	242066662	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:242066662C>G	ENST00000405260.1	-	10	2366	c.1668G>C	c.(1666-1668)gaG>gaC	p.E556D	PASK_ENST00000539818.1_Missense_Mutation_p.E340D|PASK_ENST00000358649.4_Missense_Mutation_p.E556D|PASK_ENST00000544142.1_Missense_Mutation_p.E370D|PASK_ENST00000234040.4_Missense_Mutation_p.E556D|PASK_ENST00000403638.3_Missense_Mutation_p.E556D	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	556					negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		TGCCCCCATCCTCAGCTGGGA	0.587																																							uc002wao.1		NA																	0				ovary(4)|lung(1)|skin(1)	6						c.(1666-1668)GAG>GAC		PAS domain containing serine/threonine kinase							146.0	146.0	146.0					2																	242066662		2203	4300	6503	SO:0001583	missense	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242066662C>G	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.1668G>C	2.37:g.242066662C>G	ENSP00000384016:p.Glu556Asp					PASK_uc010zol.1_Missense_Mutation_p.E370D|PASK_uc010zom.1_Missense_Mutation_p.E521D|PASK_uc010fzl.1_Missense_Mutation_p.E556D|PASK_uc010zon.1_Missense_Mutation_p.E337D|PASK_uc002wap.2_Missense_Mutation_p.E99D|PASK_uc002waq.2_Missense_Mutation_p.E556D	p.E556D	NM_015148	NP_055963	Q96RG2	PASK_HUMAN		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	10	1760	-		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	556					G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	ENST00000405260.1	37	c.1668G>C	CCDS2545.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.271580	0.40194	.	.	ENSG00000115687	ENST00000234040;ENST00000544142;ENST00000405260;ENST00000358649;ENST00000539818;ENST00000403638	T;T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.34;-0.37;0.61	4.55	3.64	0.41730	.	0.545370	0.16424	N	0.215042	T	0.47116	0.1428	L	0.27053	0.805	0.09310	N	1	B;P;P;P;B	0.36837	0.118;0.571;0.571;0.557;0.255	B;B;B;B;B	0.33620	0.054;0.163;0.163;0.167;0.078	T	0.23154	-1.0196	10	0.16420	T	0.52	.	8.4904	0.33098	0.0:0.8833:0.0:0.1167	.	521;370;556;556;556	B7Z7R6;F5GYW7;Q96RG2-2;G5E9F1;Q96RG2	.;.;.;.;PASK_HUMAN	D	556;370;556;556;340;556	ENSP00000234040:E556D;ENSP00000441374:E370D;ENSP00000384016:E556D;ENSP00000351475:E556D;ENSP00000443083:E340D;ENSP00000384438:E556D	ENSP00000234040:E556D	E	-	3	2	PASK	241715335	0.013000	0.17824	0.014000	0.15608	0.273000	0.26683	1.917000	0.39996	1.195000	0.43115	0.561000	0.74099	GAG		0.587	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		23	172	0	0	0	0.003954	0	23	172				
ANO7	50636	broad.mit.edu	37	2	242155594	242155594	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:242155594G>A	ENST00000274979.8	+	19	2178	c.2075G>A	c.(2074-2076)tGg>tAg	p.W692*	ANO7_ENST00000402430.3_Nonsense_Mutation_p.W691*	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	692					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CAGGGGCCCTGGGAGGACGAC	0.617																																							uc002wax.2		NA																	0				pancreas(2)|central_nervous_system(1)	3						c.(2074-2076)TGG>TAG		transmembrane protein 16G isoform NGEP long							46.0	49.0	48.0					2																	242155594		2202	4300	6502	SO:0001587	stop_gained	50636					cell junction|chloride channel complex|cytosol	chloride channel activity	g.chr2:242155594G>A	AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	31677	protein-coding gene	gene with protein product		605096	"""transmembrane protein 16G"""	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.2075G>A	2.37:g.242155594G>A	ENSP00000274979:p.Trp692*						p.W692*	NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN			19	2178	+			692			Extracellular (Potential).		Q6IWH6	Nonsense_Mutation	SNP	ENST00000274979.8	37	c.2075G>A	CCDS33423.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.954946	0.73902	.	.	ENSG00000146205	ENST00000274979;ENST00000402430	.	.	.	3.29	2.38	0.29361	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.8703	0.41170	0.1087:0.0:0.8913:0.0	.	.	.	.	X	692;691	.	ENSP00000274979:W692X	W	+	2	0	ANO7	241804267	1.000000	0.71417	0.509000	0.27700	0.026000	0.11368	6.499000	0.73683	0.495000	0.27882	0.467000	0.42956	TGG		0.617	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	NM_001001891		3	15	0	0	0	0.004672	0	3	15				
THAP4	51078	broad.mit.edu	37	2	242573057	242573058	+	Missense_Mutation	DNP	TC	TC	AA			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	TC	TC	-	-	TC	TC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:242573057_242573058TC>AA	ENST00000407315.1	-	2	945_946	c.514_515GA>TT	c.(514-516)GAa>TTa	p.E172L		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	172							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		TGGAGTCCGTTCCAGAGCTTGC	0.644																																							uc002wbt.2		NA																	0					0						c.(514-516)GAA>TTA		THAP domain containing 4 isoform 1																																				SO:0001583	missense	51078						DNA binding|metal ion binding	g.chr2:242573057_242573058TC>AA	AF258556	CCDS2551.1, CCDS54440.1	2q37.3	2013-01-25			ENSG00000176946	ENSG00000176946		"""THAP (C2CH-type zinc finger) domain containing"""	23187	protein-coding gene	gene with protein product		612533				12575992, 10810093	Standard	NM_015963		Approved	CGI-36	uc002wbt.3	Q8WY91	OTTHUMG00000133410	ENST00000407315.1:c.514_515delinsAA	2.37:g.242573057_242573058delinsAA	ENSP00000385006:p.Glu172Leu						p.E172L	NM_015963	NP_057047	Q8WY91	THAP4_HUMAN		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)	2	737_738	-		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)	172					Q53NU7|Q6GRN0|Q6IPJ3|Q9NW26|Q9Y325	Missense_Mutation	DNP	ENST00000407315.1	37	c.514_515GA>TT	CCDS2551.1																																																																																				0.644	THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257267.3	NM_015963		8	27	0	0	0	0.004672	0	8	27				
SIRPB2	284759	broad.mit.edu	37	20	1457984	1457984	+	Splice_Site	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr20:1457984T>A	ENST00000359801.3	-	4	894	c.858A>T	c.(856-858)acA>acT	p.T286T	SIRPB2_ENST00000444444.2_Splice_Site_p.T188T|SIRPB2_ENST00000537284.1_Silent_p.T148T|SIRPB2_ENST00000608747.1_5'Flank	NM_001122962.1	NP_001116434.1	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein beta 2	0	Ig-like C1-type 2.		S -> L (in dbSNP:rs6034239). {ECO:0000269|PubMed:11185750}.		blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TACGCTCACCTGTTGGAGACA	0.537																																							uc002wfg.2		NA																	0					0						c.(856-858)ACA>ACT		signal-regulatory protein beta 2 isoform 1							187.0	163.0	170.0					20																	1457984		1568	3582	5150	SO:0001630	splice_region_variant	284759					integral to membrane		g.chr20:1457984T>A	AL109658	CCDS42849.1, CCDS46570.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000196209	ENSG00000196209		"""Signal-regulatory proteins"", ""Immunoglobulin superfamily / V-set domain containing"""	16247	protein-coding gene	gene with protein product			"""protein tyrosine phosphatase, non-receptor type 1-like"", ""protein tyrosine phosphatase, non-receptor type substrate 1-like 3"""	PTPN1L, PTPNS1L3		16339511	Standard	NM_001122962		Approved	dJ776F14.2	uc002wfg.2	Q5JXA9	OTTHUMG00000031670	ENST00000359801.3:c.859+1A>T	20.37:g.1457984T>A						SIRPB2_uc002wfh.3_Silent_p.T188T|SIRPB2_uc010zpr.1_Silent_p.T148T	p.T286T	NM_001122962	NP_001116434	Q5JXA9	SIRB2_HUMAN			4	1086	-			286			Extracellular (Potential).		B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Silent	SNP	ENST00000359801.3	37	c.858A>T	CCDS42849.1	.	.	.	.	.	.	.	.	.	.	T	8.798	0.932134	0.18131	.	.	ENSG00000196209	ENST00000381630;ENST00000381628	T	0.02015	4.5	3.16	-0.337	0.12654	.	.	.	.	.	T	0.03564	0.0102	.	.	.	0.36653	D	0.877514	.	.	.	.	.	.	T	0.52019	-0.8631	6	0.46703	T	0.11	-18.2405	5.6172	0.17438	0.0:0.4107:0.0:0.5893	.	.	.	.	L	189	ENSP00000371043:Q189L	ENSP00000371041:Q189L	Q	-	2	0	SIRPB2	1405984	0.949000	0.32298	0.297000	0.24988	0.073000	0.16967	0.707000	0.25704	-0.085000	0.12573	0.402000	0.26972	CAG		0.537	SIRPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077544.1	NM_178459	Silent	45	59	0	0	0	0.00361	0	45	59				
OXT	5020	broad.mit.edu	37	20	3052344	3052344	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr20:3052344G>A	ENST00000217386.2	+	1	79	c.43G>A	c.(43-45)Gcg>Acg	p.A15T		NM_000915.2	NP_000906.1	P01178	NEU1_HUMAN	oxytocin/neurophysin I prepropeptide	15					drinking behavior (GO:0042756)|eating behavior (GO:0042755)|female pregnancy (GO:0007565)|grooming behavior (GO:0007625)|heart development (GO:0007507)|hyperosmotic salinity response (GO:0042538)|male mating behavior (GO:0060179)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|memory (GO:0007613)|negative regulation of blood pressure (GO:0045776)|negative regulation of gastric acid secretion (GO:0060455)|negative regulation of urine volume (GO:0035811)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of female receptivity (GO:0045925)|positive regulation of hindgut contraction (GO:0060450)|positive regulation of norepinephrine secretion (GO:0010701)|positive regulation of ossification (GO:0045778)|positive regulation of penile erection (GO:0060406)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of heart rate (GO:0002027)|regulation of sensory perception of pain (GO:0051930)|response to activity (GO:0014823)|response to amphetamine (GO:0001975)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to ether (GO:0045472)|response to food (GO:0032094)|response to glucocorticoid (GO:0051384)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|response to prostaglandin E (GO:0034695)|response to retinoic acid (GO:0032526)|response to sucrose (GO:0009744)|signal transduction (GO:0007165)|sleep (GO:0030431)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)				lung(2)	2					Oxytocin(DB00107)	CGGCCTCCTGGCGCTGACCTC	0.721																																							uc002wht.1		NA																	0					0						c.(43-45)GCG>ACG		oxytocin-neurophysin I preproprotein	Oxytocin(DB00107)						13.0	13.0	13.0					20																	3052344		2181	4266	6447	SO:0001583	missense	5020				signal transduction		neurohypophyseal hormone activity	g.chr20:3052344G>A		CCDS13044.1	20p13	2013-02-28	2012-10-23		ENSG00000101405	ENSG00000101405		"""Endogenous ligands"""	8528	protein-coding gene	gene with protein product	"""oxytocin"", ""neurophysin I"""	167050	"""oxytocin, prepro- (neurophysin I)"", ""oxytocin, prepropeptide"""	OT			Standard	NM_000915		Approved	OXT-NPI, OT-NPI	uc002wht.1	P01178	OTTHUMG00000031724	ENST00000217386.2:c.43G>A	20.37:g.3052344G>A	ENSP00000217386:p.Ala15Thr						p.A15T	NM_000915	NP_000906	P01178	NEU1_HUMAN			1	79	+			15					Q3MIG0	Missense_Mutation	SNP	ENST00000217386.2	37	c.43G>A	CCDS13044.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.938485	0.92526	.	.	ENSG00000101405	ENST00000217386	D	0.98249	-4.82	5.41	5.41	0.78517	.	0.118800	0.56097	D	0.000031	D	0.98466	0.9489	M	0.79123	2.44	0.43199	D	0.995042	D	0.58620	0.983	P	0.53490	0.727	D	0.99211	1.0876	10	0.59425	D	0.04	-16.5538	19.1757	0.93602	0.0:0.0:1.0:0.0	.	15	P01178	NEU1_HUMAN	T	15	ENSP00000217386:A15T	ENSP00000217386:A15T	A	+	1	0	OXT	3000344	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	1.776000	0.38594	2.524000	0.85096	0.557000	0.71058	GCG		0.721	OXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077698.2	NM_000915		5	3	0	0	0	0.000602	0	5	3				
PLCB1	23236	broad.mit.edu	37	20	8637874	8637874	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr20:8637874G>T	ENST00000338037.6	+	8	665	c.638G>T	c.(637-639)aGa>aTa	p.R213I	PLCB1_ENST00000378641.3_Missense_Mutation_p.R213I|PLCB1_ENST00000378637.2_Missense_Mutation_p.R213I	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	213					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)	p.R213K(1)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GAAGTGTACAGAGTTTTCCTC	0.388																																							uc002wnb.2		NA																	1	Substitution - Missense(1)		skin(1)	ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						c.(637-639)AGA>ATA		phosphoinositide-specific phospholipase C beta 1							138.0	135.0	136.0					20																	8637874		2203	4300	6503	SO:0001583	missense	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8637874G>T	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.638G>T	20.37:g.8637874G>T	ENSP00000338185:p.Arg213Ile					PLCB1_uc010zrb.1_Missense_Mutation_p.R112I|PLCB1_uc002wna.2_Missense_Mutation_p.R213I|PLCB1_uc002wnc.1_Missense_Mutation_p.R112I	p.R213I	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN			8	641	+			213					D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	c.638G>T	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.065187	0.55432	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.41400	1.0;1.0;1.0	5.29	5.29	0.74685	.	0.249567	0.48286	D	0.000194	T	0.31071	0.0785	L	0.29908	0.895	0.46113	D	0.998876	B;P	0.35745	0.009;0.518	B;B	0.36244	0.011;0.22	T	0.06023	-1.0850	10	0.22706	T	0.39	.	12.6352	0.56679	0.0762:0.0:0.9238:0.0	.	213;213	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	I	213;213;213;133;133	ENSP00000367908:R213I;ENSP00000338185:R213I;ENSP00000367904:R213I	ENSP00000338185:R213I	R	+	2	0	PLCB1	8585874	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.139000	0.50577	2.618000	0.88619	0.650000	0.86243	AGA		0.388	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			22	39	1	0	7.76418e-22	0.005443	1.31646e-21	22	39				
PAK7	57144	broad.mit.edu	37	20	9560828	9560828	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr20:9560828G>T	ENST00000378429.3	-	5	1500	c.954C>A	c.(952-954)taC>taA	p.Y318*	RP5-986I17.2_ENST00000428769.1_RNA|PAK7_ENST00000378423.1_Nonsense_Mutation_p.Y318*|PAK7_ENST00000353224.5_Nonsense_Mutation_p.Y318*	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	318	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			ACAAGCGAGGGTAGGTGTAGG	0.547																																							uc002wnl.2		NA																	0				lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23						c.(952-954)TAC>TAA		p21-activated kinase 7							316.0	255.0	276.0					20																	9560828		2203	4300	6503	SO:0001587	stop_gained	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9560828G>T	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.954C>A	20.37:g.9560828G>T	ENSP00000367686:p.Tyr318*					PAK7_uc002wnk.2_Nonsense_Mutation_p.Y318*|PAK7_uc002wnj.2_Nonsense_Mutation_p.Y318*|PAK7_uc010gby.1_Nonsense_Mutation_p.Y318*	p.Y318*	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		5	1499	-			318			Linker.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Nonsense_Mutation	SNP	ENST00000378429.3	37	c.954C>A	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	G	40	8.248000	0.98724	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	.	.	.	5.91	3.99	0.46301	.	0.118877	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7303	0.57195	0.1297:0.0:0.8702:0.0	.	.	.	.	X	318;318;318;266	.	.	Y	-	3	2	PAK7	9508828	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.424000	0.73366	0.866000	0.35629	-0.796000	0.03273	TAC		0.547	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			60	76	1	0	1.64915e-30	0.00361	2.92986e-30	60	76				
SEL1L2	80343	broad.mit.edu	37	20	13894500	13894500	+	Silent	SNP	G	G	T	rs372295671		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr20:13894500G>T	ENST00000284951.5	-	5	551	c.477C>A	c.(475-477)ggC>ggA	p.G159G	SEL1L2_ENST00000378072.5_Silent_p.G159G|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	159						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TATTTTGCACGCCAAAATTTC	0.393																																							uc010gcf.2		NA																	0				ovary(2)	2						c.(475-477)GGC>GGA		sel-1 suppressor of lin-12-like 2 precursor							99.0	89.0	92.0					20																	13894500		1820	4078	5898	SO:0001819	synonymous_variant	80343					integral to membrane	binding	g.chr20:13894500G>T	AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.477C>A	20.37:g.13894500G>T						SEL1L2_uc002woq.3_Silent_p.G20G|SEL1L2_uc010zrl.1_Silent_p.G159G|SEL1L2_uc002wor.2_RNA	p.G159G	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN			5	559	-			159			Extracellular (Potential).|Sel1-like 2.		B4DXX5	Silent	SNP	ENST00000284951.5	37	c.477C>A																																																																																					0.393	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229		19	16	1	0	2.94398e-08	0.007413	3.84684e-08	19	16				
INSM1	3642	broad.mit.edu	37	20	20349229	20349229	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr20:20349229G>A	ENST00000310227.1	+	1	465	c.318G>A	c.(316-318)gtG>gtA	p.V106V		NM_002196.2	NP_002187.1	Q01101	INSM1_HUMAN	insulinoma-associated 1	106	Ala/Gly/Pro-rich.				adrenal chromaffin cell differentiation (GO:0061104)|cell cycle (GO:0007049)|endocrine pancreas development (GO:0031018)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|noradrenergic neuron development (GO:0003358)|norepinephrine biosynthetic process (GO:0042421)|pancreatic A cell differentiation (GO:0003310)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neural precursor cell proliferation (GO:2000179)|regulation of gene expression (GO:0010468)|regulation of protein complex assembly (GO:0043254)|sympathetic ganglion development (GO:0061549)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell differentiation (GO:0003309)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|cyclin binding (GO:0030332)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			liver(1)|lung(3)|ovary(1)|prostate(1)	6				READ - Rectum adenocarcinoma(2;0.0649)		CGCGGCCCGTGAGCCGCGAGC	0.746																																							uc002wrx.2		NA																	0				ovary(1)	1						c.(316-318)GTG>GTA		insulinoma-associated 1							5.0	6.0	6.0					20																	20349229		1317	2756	4073	SO:0001819	synonymous_variant	3642				endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:20349229G>A		CCDS13143.1	20p11.2	2012-07-10			ENSG00000173404	ENSG00000173404			6090	protein-coding gene	gene with protein product		600010				8188699, 16569215	Standard	NM_002196		Approved	IA-1, IA1	uc002wrx.3	Q01101	OTTHUMG00000032004	ENST00000310227.1:c.318G>A	20.37:g.20349229G>A							p.V106V	NM_002196	NP_002187	Q01101	INSM1_HUMAN		READ - Rectum adenocarcinoma(2;0.0649)	1	465	+			106			Ala/Gly/Pro-rich.			Silent	SNP	ENST00000310227.1	37	c.318G>A	CCDS13143.1																																																																																				0.746	INSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078223.1	NM_002196		6	3	0	0	0	0.001984	0	6	3				
REM1	28954	broad.mit.edu	37	20	30064329	30064329	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr20:30064329C>A	ENST00000201979.2	+	2	374	c.81C>A	c.(79-81)ggC>ggA	p.G27G	DEFB124_ENST00000481595.1_Intron	NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	27					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CCCCACGGGGCCACCAGCCTG	0.647																																							uc002wwa.2		NA																	0				lung(2)|pancreas(2)	4						c.(79-81)GGC>GGA		RAS-like GTP-binding protein REM							71.0	85.0	81.0					20																	30064329		2203	4300	6503	SO:0001819	synonymous_variant	28954				small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity	g.chr20:30064329C>A	AF152863	CCDS13181.1	20q11.21	2014-05-09	2004-04-14	2004-04-16	ENSG00000088320	ENSG00000088320			15922	protein-coding gene	gene with protein product	"""GTPase GES"""	610388	"""RAS (RAD and GEM)-like GTP-binding"""	REM		10831614, 14623965	Standard	NM_014012		Approved	GES	uc002wwa.3	O75628	OTTHUMG00000032168	ENST00000201979.2:c.81C>A	20.37:g.30064329C>A							p.G27G	NM_014012	NP_054731	O75628	REM1_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		2	365	+	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		27					E1P5L1|Q5TZR7|Q5TZR8|Q9NP57	Silent	SNP	ENST00000201979.2	37	c.81C>A	CCDS13181.1																																																																																				0.647	REM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078508.2	NM_014012		18	51	1	0	4.96729e-08	0.008871	6.42292e-08	18	51				
DNMT3B	1789	broad.mit.edu	37	20	31390254	31390254	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr20:31390254G>T	ENST00000328111.2	+	20	2530	c.2209G>T	c.(2209-2211)Ggc>Tgc	p.G737C	DNMT3B_ENST00000348286.2_Missense_Mutation_p.G717C|DNMT3B_ENST00000443239.3_Missense_Mutation_p.G675C|DNMT3B_ENST00000344505.4_Missense_Mutation_p.G717C|DNMT3B_ENST00000201963.3_Missense_Mutation_p.G729C|DNMT3B_ENST00000353855.2_Missense_Mutation_p.G717C|DNMT3B_ENST00000456297.2_Missense_Mutation_p.G641C	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	737	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATACTTCTGGGGCAACCTACC	0.468																																							uc002wyc.2		NA																	0				lung(3)|ovary(2)	5						c.(2209-2211)GGC>TGC		DNA cytosine-5 methyltransferase 3 beta isoform							142.0	138.0	139.0					20																	31390254		2203	4300	6503	SO:0001583	missense	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31390254G>T		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.2209G>T	20.37:g.31390254G>T	ENSP00000328547:p.Gly737Cys					DNMT3B_uc002wyd.2_Missense_Mutation_p.G717C|DNMT3B_uc002wye.2_Missense_Mutation_p.G717C|DNMT3B_uc010gee.2_RNA|DNMT3B_uc010gef.2_RNA|DNMT3B_uc010ztz.1_Missense_Mutation_p.G675C|DNMT3B_uc010zua.1_Missense_Mutation_p.G641C|DNMT3B_uc002wyf.2_Missense_Mutation_p.G729C|DNMT3B_uc002wyg.2_Missense_Mutation_p.G436C|DNMT3B_uc010geg.2_Missense_Mutation_p.G36C|DNMT3B_uc010geh.2_RNA	p.G737C	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN			20	2530	+			737					A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Missense_Mutation	SNP	ENST00000328111.2	37	c.2209G>T	CCDS13205.1	.	.	.	.	.	.	.	.	.	.	G	31	5.087654	0.94100	.	.	ENSG00000088305	ENST00000328111;ENST00000353855;ENST00000348286;ENST00000443239;ENST00000456297;ENST00000344505;ENST00000201963	D;D;D;D;D;T;D	0.97752	-4.52;-4.52;-4.52;-4.52;-4.52;0.44;-4.52	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.98785	0.9591	M	0.83692	2.655	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;1.0;0.999;1.0;1.0;1.0;1.0	D	0.99741	1.1015	10	0.87932	D	0	-30.1411	18.8794	0.92351	0.0:0.0:1.0:0.0	.	641;675;436;729;717;717;737	E9PBF2;E7EN63;B3KM53;Q9UBC3-6;Q9UBC3-3;Q9UBC3-2;Q9UBC3	.;.;.;.;.;.;DNM3B_HUMAN	C	737;717;717;675;641;717;729	ENSP00000328547:G737C;ENSP00000313397:G717C;ENSP00000337764:G717C;ENSP00000403169:G675C;ENSP00000412305:G641C;ENSP00000345105:G717C;ENSP00000201963:G729C	ENSP00000201963:G729C	G	+	1	0	DNMT3B	30853915	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.869000	0.99810	2.776000	0.95493	0.650000	0.86243	GGC		0.468	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		40	79	1	0	1.00776e-21	0.00361	1.70288e-21	40	79				
BPIFB4	149954	broad.mit.edu	37	20	31685484	31685484	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr20:31685484C>A	ENST00000375483.3	+	11	1460	c.1460C>A	c.(1459-1461)cCa>cAa	p.P487Q		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	487						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										CTGAACCCACCATCTGTGATG	0.592																																							uc010zue.1		NA																	0					0						c.(1459-1461)CCA>CAA		antimicrobial peptide RY2G5 precursor							157.0	128.0	138.0					20																	31685484		2203	4300	6503	SO:0001583	missense	149954					cytoplasm|extracellular region	lipid binding	g.chr20:31685484C>A	AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"""BPI fold containing"""	16179	protein-coding gene	gene with protein product		615718	"""chromosome 20 open reading frame 186"""	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.1460C>A	20.37:g.31685484C>A	ENSP00000364632:p.Pro487Gln						p.P487Q	NM_182519	NP_872325	P59827	LPLC4_HUMAN			11	1475	+			487					Q5TDX6	Missense_Mutation	SNP	ENST00000375483.3	37	c.1460C>A	CCDS13213.2	.	.	.	.	.	.	.	.	.	.	C	12.97	2.098784	0.37048	.	.	ENSG00000186191	ENST00000375483	T	0.47869	0.83	5.44	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.67487	0.2898	M	0.81942	2.565	0.23282	N	0.997982	D	0.89917	1.0	D	0.91635	0.999	T	0.61008	-0.7149	10	0.62326	D	0.03	-15.9213	10.457	0.44557	0.0:0.9093:0.0:0.0907	.	487	P59827	BPIB4_HUMAN	Q	487	ENSP00000364632:P487Q	ENSP00000364632:P487Q	P	+	2	0	BPIFB4	31149145	0.852000	0.29690	0.052000	0.19188	0.205000	0.24178	4.093000	0.57714	1.434000	0.47414	0.462000	0.41574	CCA		0.592	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519		37	92	1	0	1.66425e-11	0.004878	2.38414e-11	37	92				
BPIFA1	51297	broad.mit.edu	37	20	31825642	31825642	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr20:31825642T>A	ENST00000354297.4	+	2	196	c.125T>A	c.(124-126)tTg>tAg	p.L42*	BPIFA1_ENST00000375422.2_Nonsense_Mutation_p.L42*|BPIFA1_ENST00000375413.4_Nonsense_Mutation_p.L42*	NM_130852.2	NP_570913.1	Q9NP55	BPIA1_HUMAN	BPI fold containing family A, member 1	42					antibacterial humoral response (GO:0019731)|innate immune response (GO:0045087)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|regulation of liquid surface tension (GO:0050828)|regulation of sodium ion transmembrane transport (GO:1902305)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)										GCCCTGCCCTTGAGTCCCACA	0.562																																							uc002wyv.2		NA																	0					0						c.(124-126)TTG>TAG		palate, lung and nasal epithelium associated							91.0	86.0	87.0					20																	31825642		2203	4300	6503	SO:0001587	stop_gained	51297				innate immune response	extracellular region	lipid binding	g.chr20:31825642T>A	AB024937	CCDS13217.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000198183	ENSG00000198183		"""BPI fold containing"""	15749	protein-coding gene	gene with protein product		607412	"""palate, lung and nasal epithelium carcinoma associated"", ""palate, lung and nasal epithelium associated"""	PLUNC		11018263, 11251963, 21787333	Standard	NM_130852		Approved	LUNX, bA49G10.5, SPLUNC1	uc002wyv.3	Q9NP55	OTTHUMG00000032243	ENST00000354297.4:c.125T>A	20.37:g.31825642T>A	ENSP00000346251:p.Leu42*					PLUNC_uc002wyt.3_Nonsense_Mutation_p.L42*|PLUNC_uc002wyu.3_Nonsense_Mutation_p.L42*	p.L42*	NM_130852	NP_570913	Q9NP55	PLUNC_HUMAN			2	195	+			42					A8K9R3|E1P5M9|Q9NZT0	Nonsense_Mutation	SNP	ENST00000354297.4	37	c.125T>A	CCDS13217.1	.	.	.	.	.	.	.	.	.	.	T	15.20	2.762088	0.49468	.	.	ENSG00000198183	ENST00000375422;ENST00000354297;ENST00000375413;ENST00000544328	.	.	.	5.13	-2.85	0.05734	.	2.187000	0.01853	N	0.036064	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	22.7453	5.3356	0.15955	0.1431:0.339:0.0:0.5179	.	.	.	.	X	42;42;42;28	.	ENSP00000346251:L42X	L	+	2	0	BPIFA1	31289303	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-1.283000	0.02796	-0.317000	0.08677	-0.242000	0.12053	TTG		0.562	BPIFA1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078667.2	NM_130852		26	79	0	0	0	0.002096	0	26	79				
BPIFB1	92747	broad.mit.edu	37	20	31887734	31887734	+	Missense_Mutation	SNP	G	G	A	rs546526666		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr20:31887734G>A	ENST00000253354.1	+	8	852	c.691G>A	c.(691-693)Gag>Aag	p.E231K	BPIFB1_ENST00000464032.1_3'UTR	NM_033197.2	NP_149974.2	Q8TDL5	BPIB1_HUMAN	BPI fold containing family B, member 1	231					innate immune response in mucosa (GO:0002227)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										TGACCGTCTGGAGTTTGACCT	0.557											OREG0025869	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0	0.0	5008	,	,		19838	0.001		0.0	False		,,,				2504	0.0						uc002wyw.1		NA																	0				central_nervous_system(2)|skin(2)	4						c.(691-693)GAG>AAG		LPLUNC1 protein precursor							204.0	143.0	164.0					20																	31887734		2203	4300	6503	SO:0001583	missense	92747					extracellular space	lipid binding	g.chr20:31887734G>A	BC008429	CCDS13218.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000125999	ENSG00000125999		"""BPI fold containing"""	16108	protein-coding gene	gene with protein product	"""von Ebner minor salivary gland protein"""		"""chromosome 20 open reading frame 114"""	C20orf114		11971875, 21787333	Standard	NM_033197		Approved	dJ1187J4.1, MGC14597, bA49G10.6, LPLUNC1, VEMSGP	uc002wyw.1	Q8TDL5	OTTHUMG00000032252	ENST00000253354.1:c.691G>A	20.37:g.31887734G>A	ENSP00000253354:p.Glu231Lys		OREG0025869	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	828	C20orf114_uc002wyx.1_5'Flank	p.E231K	NM_033197	NP_149974	Q8TDL5	LPLC1_HUMAN			8	852	+			231					A8K2H8|Q5QP43|Q6UWY1|Q6ZRU7|Q96HK6|Q9BQP8|Q9BWZ6|Q9H4V6	Missense_Mutation	SNP	ENST00000253354.1	37	c.691G>A	CCDS13218.1	.	.	.	.	.	.	.	.	.	.	G	10.50	1.368510	0.24771	.	.	ENSG00000125999	ENST00000253354;ENST00000375378	T	0.03242	4.0	5.74	-2.67	0.06059	.	1.445650	0.04100	N	0.312805	T	0.04272	0.0118	L	0.48362	1.52	0.09310	N	1	B	0.21381	0.055	B	0.12837	0.008	T	0.46105	-0.9215	10	0.22706	T	0.39	-1.0342	8.101	0.30857	0.2157:0.4734:0.3109:0.0	.	231	Q8TDL5	BPIB1_HUMAN	K	231;62	ENSP00000253354:E231K	ENSP00000253354:E231K	E	+	1	0	BPIFB1	31351395	0.210000	0.23517	0.373000	0.26003	0.711000	0.40976	-0.774000	0.04684	-0.323000	0.08602	0.561000	0.74099	GAG		0.557	BPIFB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106499.2	NM_033197		25	72	0	0	0	0.002836	0	25	72				
PHF20	51230	broad.mit.edu	37	20	34519296	34519296	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr20:34519296C>T	ENST00000374012.3	+	15	2359	c.2230C>T	c.(2230-2232)Cag>Tag	p.Q744*	RNU6-937P_ENST00000384325.1_RNA|PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	744					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					GGCCACCCACCAGCTTCTTGG	0.527																																							uc002xek.1		NA																	0				ovary(1)	1						c.(2230-2232)CAG>TAG		PHD finger protein 20							116.0	102.0	107.0					20																	34519296		2203	4300	6503	SO:0001587	stop_gained	51230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding	g.chr20:34519296C>T	AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	16098	protein-coding gene	gene with protein product	"""tudor domain containing 20A"""	610335	"""chromosome 20 open reading frame 104"""	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.2230C>T	20.37:g.34519296C>T	ENSP00000363124:p.Gln744*						p.Q744*	NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN			15	2341	+	Breast(12;0.00631)|all_lung(11;0.0145)		744					A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Nonsense_Mutation	SNP	ENST00000374012.3	37	c.2230C>T	CCDS13268.1	.	.	.	.	.	.	.	.	.	.	C	39	7.565366	0.98361	.	.	ENSG00000025293	ENST00000374012	.	.	.	5.02	5.02	0.67125	.	0.105116	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	18.5392	0.91022	0.0:1.0:0.0:0.0	.	.	.	.	X	744	.	ENSP00000363124:Q744X	Q	+	1	0	PHF20	33982710	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.320000	0.79064	2.591000	0.87537	0.643000	0.83706	CAG		0.527	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078949.2	NM_016436		14	52	0	0	0	0.00499	0	14	52				
SOGA1	140710	broad.mit.edu	37	20	35434280	35434280	+	Silent	SNP	C	C	A	rs372885110		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr20:35434280C>A	ENST00000357779.3	-	9	2507	c.2181G>T	c.(2179-2181)acG>acT	p.T727T	SOGA1_ENST00000237536.4_Silent_p.T965T|SOGA1_ENST00000279034.6_Silent_p.T727T|SOGA1_ENST00000456801.2_Silent_p.T568T			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	727					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						AGCTGTCCCCCGTGCAGGCCT	0.493																																							uc002xgd.1		NA																	0					0						c.(2179-2181)ACG>ACT		hypothetical protein LOC140710 isoform 2							93.0	95.0	94.0					20																	35434280		1958	4144	6102	SO:0001819	synonymous_variant	140710							g.chr20:35434280C>A	AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.2181G>T	20.37:g.35434280C>A						C20orf117_uc002xge.1_RNA	p.T727T	NM_199181	NP_954650	O94964	K0889_HUMAN			9	2508	-		Myeloproliferative disorder(115;0.00874)	727					A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Silent	SNP	ENST00000357779.3	37	c.2181G>T																																																																																					0.493	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		6	19	1	0	0.000157383	0.00308	0.000177026	6	19				
RALGAPB	57148	broad.mit.edu	37	20	37146502	37146502	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr20:37146502A>G	ENST00000262879.6	+	9	1560	c.1276A>G	c.(1276-1278)Agt>Ggt	p.S426G	MIR548O2_ENST00000583129.1_RNA|RALGAPB_ENST00000397040.1_Missense_Mutation_p.S426G|RALGAPB_ENST00000537204.1_Missense_Mutation_p.S426G|RALGAPB_ENST00000397042.3_Missense_Mutation_p.S426G|RALGAPB_ENST00000397038.1_Missense_Mutation_p.S204G			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	426					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AAATCAGACTAGTTCAGAACC	0.473																																							uc002xiw.2		NA																	0				pancreas(1)|skin(1)	2						c.(1276-1278)AGT>GGT		Ral GTPase activating protein, beta subunit							119.0	111.0	114.0					20																	37146502		2203	4300	6503	SO:0001583	missense	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37146502A>G	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.1276A>G	20.37:g.37146502A>G	ENSP00000262879:p.Ser426Gly					RALGAPB_uc010zvz.1_Missense_Mutation_p.S426G|RALGAPB_uc002xix.2_Missense_Mutation_p.S426G|RALGAPB_uc002xiy.1_Missense_Mutation_p.S426G|RALGAPB_uc002xiz.2_Missense_Mutation_p.S204G|RALGAPB_uc002xja.1_Missense_Mutation_p.S153G	p.S426G	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN			9	1533	+			426					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	ENST00000262879.6	37	c.1276A>G	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	A	14.64	2.596989	0.46318	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000397038;ENST00000537204;ENST00000397040;ENST00000438490	.	.	.	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.42743	0.1216	L	0.56769	1.78	0.80722	D	1	P;B;B;B;B	0.41313	0.745;0.135;0.135;0.135;0.135	B;B;B;B;B	0.35550	0.205;0.069;0.109;0.069;0.069	T	0.34079	-0.9843	9	0.12430	T	0.62	.	11.0637	0.47964	0.8612:0.0:0.0:0.1388	.	426;254;426;426;426	B4E2E8;A2A2F0;Q86X10-4;A2A2E9;Q86X10	.;.;.;.;RLGPB_HUMAN	G	426;426;426;204;426;426;254	.	ENSP00000262879:S426G	S	+	1	0	RALGAPB	36579916	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.347000	0.79356	2.066000	0.61787	0.454000	0.30748	AGT		0.473	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		11	59	0	0	0	0.001855	0	11	59				
L3MBTL1	26013	broad.mit.edu	37	20	42157977	42157977	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr20:42157977C>T	ENST00000427442.2	+	9	1118	c.959C>T	c.(958-960)cCg>cTg	p.P320L	L3MBTL1_ENST00000373134.1_Missense_Mutation_p.P252L|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.P252L|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.P320L|L3MBTL1_ENST00000444063.1_Missense_Mutation_p.P252L			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	252				LR -> MC (in Ref. 1; AAC69438). {ECO:0000305}.	chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of mitosis (GO:0007088)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|nucleosome binding (GO:0031491)|SAM domain binding (GO:0032093)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						CCTCAACACCCGTCCATGTAC	0.532																																							uc010zwh.1		NA																	0					0						c.(958-960)CCG>CTG		l(3)mbt-like isoform I							212.0	133.0	159.0					20																	42157977		2203	4300	6503	SO:0001583	missense	26013				chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:42157977C>T	U89358	CCDS13319.1, CCDS46602.1, CCDS46602.2	20q13.12	2013-01-10	2010-09-03	2010-09-03	ENSG00000185513	ENSG00000185513		"""Zinc fingers, C2HC-type containing"", ""Sterile alpha motif (SAM) domain containing"""	15905	protein-coding gene	gene with protein product	"""lethal (3) malignant brain tumor l(3)"""	608802	"""l(3)mbt (Drosophila)-like"", ""l(3)mbt-like (Drosophila)"""	L3MBTL		10445843, 17540172	Standard	NM_032107		Approved	ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681	uc010zwh.2	Q9Y468	OTTHUMG00000032503	ENST00000427442.2:c.959C>T	20.37:g.42157977C>T	ENSP00000402107:p.Pro320Leu					L3MBTL_uc002xkl.2_Missense_Mutation_p.P252L|L3MBTL_uc002xkm.2_Missense_Mutation_p.P252L|L3MBTL_uc010ggl.2_Missense_Mutation_p.P252L|L3MBTL_uc002xkn.1_Missense_Mutation_p.P11L|L3MBTL_uc002xko.2_5'Flank	p.P320L	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		9	1005	+		Myeloproliferative disorder(115;0.00452)	252			MBT 1.		B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Missense_Mutation	SNP	ENST00000427442.2	37	c.959C>T	CCDS46602.2	.	.	.	.	.	.	.	.	.	.	C	32	5.158197	0.94686	.	.	ENSG00000185513	ENST00000427442;ENST00000418998;ENST00000373135;ENST00000444063;ENST00000373134;ENST00000422861	D;D;D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29;-2.29;-2.29	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.92825	0.7718	M	0.67569	2.06	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;1.0;0.999	D	0.92967	0.6394	10	0.59425	D	0.04	.	18.0543	0.89360	0.0:1.0:0.0:0.0	.	320;252;252	Q9Y468-5;Q9Y468-2;Q9Y468-1	.;.;.	L	320;320;252;252;252;38	ENSP00000402107:P320L;ENSP00000398516:P320L;ENSP00000362227:P252L;ENSP00000403316:P252L;ENSP00000362226:P252L;ENSP00000410139:P38L	ENSP00000362226:P252L	P	+	2	0	L3MBTL1	41591391	1.000000	0.71417	0.984000	0.44739	0.939000	0.58152	7.773000	0.85462	2.572000	0.86782	0.462000	0.41574	CCG		0.532	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079300.3	NM_032107		8	19	0	0	0	0.008291	0	8	19				
KCNS1	3787	broad.mit.edu	37	20	43723683	43723683	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr20:43723683A>T	ENST00000306117.1	-	5	1805	c.1409T>A	c.(1408-1410)cTg>cAg	p.L470Q	KCNS1_ENST00000537075.1_Missense_Mutation_p.L470Q	NM_002251.3	NP_002242.2	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1	470					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(1)|lung(3)|ovary(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				GGCTGCCTCCAGAGCCTTCTG	0.582																																							uc002xnc.2		NA																	0					0						c.(1408-1410)CTG>CAG		potassium voltage-gated channel							103.0	105.0	105.0					20																	43723683		2203	4300	6503	SO:0001583	missense	3787					voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding	g.chr20:43723683A>T	AF043473	CCDS13342.1	20q12	2011-07-05			ENSG00000124134	ENSG00000124134		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6300	protein-coding gene	gene with protein product		602905				9305895, 16382104	Standard	NM_002251		Approved	Kv9.1	uc002xnc.3	Q96KK3	OTTHUMG00000033079	ENST00000306117.1:c.1409T>A	20.37:g.43723683A>T	ENSP00000307694:p.Leu470Gln					KCNS1_uc002xnd.2_Missense_Mutation_p.L470Q	p.L470Q	NM_002251	NP_002242	Q96KK3	KCNS1_HUMAN			5	1806	-		Myeloproliferative disorder(115;0.0122)	470			Cytoplasmic (Potential).		A2RUL9|B7ZM31|O43652|Q6DJU6	Missense_Mutation	SNP	ENST00000306117.1	37	c.1409T>A	CCDS13342.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.999425	0.74818	.	.	ENSG00000124134	ENST00000306117;ENST00000537075	D;D	0.96200	-3.94;-3.94	5.57	5.57	0.84162	.	0.075934	0.53938	D	0.000054	D	0.92724	0.7687	L	0.29908	0.895	0.54753	D	0.999986	B	0.29571	0.249	B	0.37601	0.254	D	0.90547	0.4506	10	0.24483	T	0.36	.	15.7306	0.77800	1.0:0.0:0.0:0.0	.	470	Q96KK3	KCNS1_HUMAN	Q	470	ENSP00000307694:L470Q;ENSP00000445595:L470Q	ENSP00000307694:L470Q	L	-	2	0	KCNS1	43157097	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.324000	0.96373	2.117000	0.64856	0.459000	0.35465	CTG		0.582	KCNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080507.3	NM_002251		28	107	0	0	0	0.002096	0	28	107				
SLC12A5	57468	broad.mit.edu	37	20	44673655	44673655	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr20:44673655C>A	ENST00000454036.2	+	12	1563	c.1514C>A	c.(1513-1515)cCa>cAa	p.P505Q	SLC12A5_ENST00000243964.3_Missense_Mutation_p.P482Q	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	505					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTGGCCTGGCCATCTCCATGG	0.607																																							uc010zxl.1		NA																	0				ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(1513-1515)CCA>CAA		solute carrier family 12 (potassium-chloride	Bumetanide(DB00887)|Potassium Chloride(DB00761)						186.0	169.0	175.0					20																	44673655		2203	4300	6503	SO:0001583	missense	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44673655C>A	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.1514C>A	20.37:g.44673655C>A	ENSP00000387694:p.Pro505Gln					SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Missense_Mutation_p.P482Q	p.P505Q	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN			12	1590	+		Myeloproliferative disorder(115;0.0122)	505			Helical; (Potential).		A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	c.1514C>A	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.884634	0.72410	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	D;D	0.98762	-5.12;-5.12	4.12	4.12	0.48240	Amino acid permease domain (1);	0.000000	0.64402	D	0.000001	D	0.99263	0.9743	M	0.92784	3.345	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.976	D	0.98813	1.0744	10	0.72032	D	0.01	.	15.1071	0.72329	0.0:1.0:0.0:0.0	.	505;482	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	Q	505;482	ENSP00000387694:P505Q;ENSP00000243964:P482Q	ENSP00000243964:P482Q	P	+	2	0	SLC12A5	44107062	1.000000	0.71417	1.000000	0.80357	0.624000	0.37722	7.320000	0.79064	2.117000	0.64856	0.313000	0.20887	CCA		0.607	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			64	133	1	0	3.79363e-24	0.00361	6.54424e-24	64	133				
SULF2	55959	broad.mit.edu	37	20	46365579	46365579	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr20:46365579T>A	ENST00000359930.4	-	3	1134	c.283A>T	c.(283-285)Atc>Ttc	p.I95F	SULF2_ENST00000484875.1_Missense_Mutation_p.I95F|SULF2_ENST00000478766.1_5'UTR|SULF2_ENST00000361612.4_Missense_Mutation_p.I95F|SULF2_ENST00000467815.1_Missense_Mutation_p.I95F	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	95					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						CCAGTGAGGATGGAGGAGCGT	0.607																																							uc002xto.2		NA																	0				ovary(2)|breast(2)|pancreas(1)|skin(1)	6						c.(283-285)ATC>TTC		sulfatase 2 isoform a precursor							238.0	175.0	197.0					20																	46365579		2203	4300	6503	SO:0001583	missense	55959				bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr20:46365579T>A	AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.283A>T	20.37:g.46365579T>A	ENSP00000353007:p.Ile95Phe					SULF2_uc002xtr.2_Missense_Mutation_p.I95F|SULF2_uc002xtq.2_Missense_Mutation_p.I95F|SULF2_uc010ghv.1_Missense_Mutation_p.I95F	p.I95F	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN			3	613	-			95					E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Missense_Mutation	SNP	ENST00000359930.4	37	c.283A>T	CCDS13408.1	.	.	.	.	.	.	.	.	.	.	T	17.76	3.469044	0.63625	.	.	ENSG00000196562	ENST00000359930;ENST00000484875;ENST00000361612;ENST00000467815;ENST00000437955	D;D;D;D;D	0.96491	-4.03;-4.03;-4.03;-4.03;-3.3	5.44	4.34	0.51931	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase, conserved site (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.177813	0.64402	D	0.000012	D	0.95940	0.8678	L	0.42245	1.32	0.80722	D	1	B;D;D	0.59357	0.313;0.985;0.975	B;P;P	0.58660	0.153;0.795;0.843	D	0.94770	0.7944	10	0.48119	T	0.1	-16.0013	11.1244	0.48308	0.0:0.0724:0.0:0.9276	.	95;95;95	G3XAE6;Q8IWU5-2;Q8IWU5	.;.;SULF2_HUMAN	F	95	ENSP00000353007:I95F;ENSP00000418290:I95F;ENSP00000354662:I95F;ENSP00000418442:I95F;ENSP00000410026:I95F	ENSP00000353007:I95F	I	-	1	0	SULF2	45798986	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.165000	0.64959	0.912000	0.36772	0.459000	0.35465	ATC		0.607	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837		15	46	0	0	0	0.00632	0	15	46				
KCNB1	3745	broad.mit.edu	37	20	47990535	47990535	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr20:47990535G>T	ENST00000371741.4	-	2	1728	c.1562C>A	c.(1561-1563)cCt>cAt	p.P521H		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	521					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	CAGGTGCTGAGGACTAGAAGA	0.483																																							uc002xur.1		NA																	0				pancreas(1)|skin(1)	2						c.(1561-1563)CCT>CAT		potassium voltage-gated channel, Shab-related							280.0	258.0	265.0					20																	47990535		2203	4300	6503	SO:0001583	missense	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:47990535G>T	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.1562C>A	20.37:g.47990535G>T	ENSP00000360806:p.Pro521His					KCNB1_uc002xus.1_Missense_Mutation_p.P521H	p.P521H	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	1726	-			521			Cytoplasmic (Potential).		Q14193	Missense_Mutation	SNP	ENST00000371741.4	37	c.1562C>A	CCDS13418.1	.	.	.	.	.	.	.	.	.	.	G	19.82	3.897928	0.72639	.	.	ENSG00000158445	ENST00000371741;ENST00000538812	T	0.53423	0.62	6.07	6.07	0.98685	.	0.530450	0.19321	N	0.117149	T	0.71913	0.3396	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.71961	-0.4434	10	0.87932	D	0	.	20.2543	0.98414	0.0:0.0:1.0:0.0	.	521	Q14721	KCNB1_HUMAN	H	521;476	ENSP00000360806:P521H	ENSP00000360806:P521H	P	-	2	0	KCNB1	47423942	1.000000	0.71417	0.969000	0.41365	0.978000	0.69477	9.869000	0.99810	2.884000	0.98904	0.655000	0.94253	CCT		0.483	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		54	169	1	0	4.46356e-37	0.00361	8.12401e-37	54	169				
PTGIS	5740	broad.mit.edu	37	20	48140725	48140725	+	Missense_Mutation	SNP	G	G	T	rs141132754		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr20:48140725G>T	ENST00000244043.4	-	6	754	c.725C>A	c.(724-726)tCc>tAc	p.S242Y	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	242					apoptotic signaling pathway (GO:0097190)|arachidonic acid metabolic process (GO:0019369)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|positive regulation of angiogenesis (GO:0045766)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|prostaglandin-I synthase activity (GO:0008116)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Epoprostenol(DB01240)|Phenylbutazone(DB00812)	CCTGGCTGGGGATAGCAGCTT	0.602																																							uc002xut.2		NA																	0				skin(2)|ovary(1)	3						c.(724-726)TCC>TAC		prostaglandin I2 synthase	Phenylbutazone(DB00812)						86.0	83.0	84.0					20																	48140725		2203	4300	6503	SO:0001583	missense	5740				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity	g.chr20:48140725G>T		CCDS13419.1	20q13	2013-11-18			ENSG00000124212	ENSG00000124212	5.3.99.4	"""Cytochrome P450s"""	9603	protein-coding gene	gene with protein product	"""cytochrome P450, family 8, subfamily A, polypeptide 1"""	601699				8812456	Standard	NM_000961		Approved	PGIS, CYP8A1	uc002xut.3	Q16647	OTTHUMG00000033077	ENST00000244043.4:c.725C>A	20.37:g.48140725G>T	ENSP00000244043:p.Ser242Tyr					PTGIS_uc010zyi.1_Missense_Mutation_p.S103Y	p.S242Y	NM_000961	NP_000952	Q16647	PTGIS_HUMAN	BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		6	779	-			242					Q3MII8|Q9HAX2|Q9HAX3|Q9HAX4	Missense_Mutation	SNP	ENST00000244043.4	37	c.725C>A	CCDS13419.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.984510	0.74474	.	.	ENSG00000124212	ENST00000244043	T	0.69175	-0.38	5.24	5.24	0.73138	.	0.347829	0.31415	N	0.007698	T	0.77718	0.4172	L	0.56280	1.765	0.44207	D	0.997031	D	0.89917	1.0	D	0.76575	0.988	T	0.78499	-0.2180	10	0.59425	D	0.04	-22.2638	14.6876	0.69059	0.0:0.0:1.0:0.0	.	242	Q16647	PTGIS_HUMAN	Y	242	ENSP00000244043:S242Y	ENSP00000244043:S242Y	S	-	2	0	PTGIS	47574132	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.109000	0.71528	2.618000	0.88619	0.655000	0.94253	TCC		0.602	PTGIS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080496.2			34	85	1	0	1.49673e-21	0.00623	2.5234e-21	34	85				
CBLN4	140689	broad.mit.edu	37	20	54579045	54579045	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr20:54579045C>A	ENST00000064571.2	-	1	1483	c.183G>T	c.(181-183)ggG>ggT	p.G61G		NM_080617.5	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	61					protein secretion (GO:0009306)	cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			GGACCGATATCCCCAGCGGGG	0.632																																							uc002xxa.2		NA																	0				ovary(3)|pancreas(1)	4						c.(181-183)GGG>GGT		cerebellin 4 precursor							81.0	86.0	84.0					20																	54579045		2203	4300	6503	SO:0001819	synonymous_variant	140689					cell junction|extracellular region|synapse		g.chr20:54579045C>A	AY358527	CCDS13448.1	20q13	2004-08-19	2004-08-19	2004-08-19	ENSG00000054803	ENSG00000054803			16231	protein-coding gene	gene with protein product		615029	"""cerebellin precursor-like 1"""	CBLNL1			Standard	NM_080617		Approved	dJ885A10.1	uc002xxa.4	Q9NTU7	OTTHUMG00000032782	ENST00000064571.2:c.183G>T	20.37:g.54579045C>A							p.G61G	NM_080617	NP_542184	Q9NTU7	CBLN4_HUMAN	Colorectal(105;0.202)		1	968	-			61					A8K0S5	Silent	SNP	ENST00000064571.2	37	c.183G>T	CCDS13448.1																																																																																				0.632	CBLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079783.2	NM_080617		25	44	1	0	9.57634e-11	0.00333	1.3434e-10	25	44				
MC3R	4159	broad.mit.edu	37	20	54824378	54824378	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr20:54824378A>T	ENST00000243911.2	+	1	591	c.479A>T	c.(478-480)aAg>aTg	p.K160M		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	160					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			ACCGTGAGGAAGGCCCTCACC	0.587																																							uc002xxb.2		NA																	0				ovary(2)|breast(2)	4						c.(478-480)AAG>ATG		melanocortin 3 receptor							215.0	195.0	202.0					20																	54824378		2203	4300	6503	SO:0001583	missense	4159				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding	g.chr20:54824378A>T		CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"""GPCR / Class A : Melanocortin receptors"""	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.479A>T	20.37:g.54824378A>T	ENSP00000243911:p.Lys160Met						p.K160M	NM_019888	NP_063941	P41968	MC3R_HUMAN	Colorectal(105;0.202)		1	591	+			197			Cytoplasmic (Potential).		Q4KN27|Q9H517	Missense_Mutation	SNP	ENST00000243911.2	37	c.479A>T	CCDS13449.2	.	.	.	.	.	.	.	.	.	.	A	18.23	3.577414	0.65878	.	.	ENSG00000124089	ENST00000243911	T	0.37915	1.17	5.21	4.12	0.48240	GPCR, rhodopsin-like superfamily (1);	0.251324	0.31061	N	0.008333	T	0.48150	0.1484	L	0.44542	1.39	0.34513	D	0.707314	D	0.76494	0.999	D	0.66716	0.946	T	0.61466	-0.7057	10	0.87932	D	0	.	10.5923	0.45316	0.9233:0.0:0.0767:0.0	.	197	P41968	MC3R_HUMAN	M	160	ENSP00000243911:K160M	ENSP00000243911:K160M	K	+	2	0	MC3R	54257785	1.000000	0.71417	0.777000	0.31699	0.883000	0.51084	3.969000	0.56816	0.822000	0.34565	0.528000	0.53228	AAG		0.587	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2			32	84	0	0	0	0.003755	0	32	84				
NELFCD	51497	broad.mit.edu	37	20	57566480	57566480	+	Silent	SNP	C	C	T	rs143108259	byFrequency	TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr20:57566480C>T	ENST00000344018.3	+	9	1122	c.1095C>T	c.(1093-1095)agC>agT	p.S365S	NELFCD_ENST00000479207.1_3'UTR|NELFCD_ENST00000602795.1_Silent_p.S374S			Q8IXH7	NELFD_HUMAN	negative elongation factor complex member C/D	365					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	membrane (GO:0016020)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)											ACGCAGCAAGCGTGGTTGAGA	0.458																																							uc002yag.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(1093-1095)AGC>AGT		TH1-like protein		C		0,4406		0,0,2203	116.0	110.0	112.0		1095	-0.6	1.0	20	dbSNP_134	112	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	TH1L	NM_198976.1		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		365/591	57566480	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	51497				negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding	g.chr20:57566480C>T	AF161479	CCDS13473.1, CCDS13473.2	20q13	2013-01-31	2013-01-31	2013-01-31	ENSG00000101158	ENSG00000101158			15934	protein-coding gene	gene with protein product	"""trihydrophobin 1"""	605297	"""TH1-like (Drosophila homolog)"", ""TH1-like (Drosophila)"""	TH1L		11030415, 11042152	Standard	NM_198976		Approved	HSPC130, TH1, NELF-C, NELF-D	uc002yag.4	Q8IXH7	OTTHUMG00000032861	ENST00000344018.3:c.1095C>T	20.37:g.57566480C>T						TH1L_uc002yaf.1_RNA|TH1L_uc002yah.2_Silent_p.S365S	p.S365S	NM_198976	NP_945327	Q8IXH7	NELFD_HUMAN	Colorectal(105;0.109)		9	1122	+	all_lung(29;0.00711)		365					B4DE06|Q9BYL2|Q9H405|Q9H888|Q9H8T3|Q9NVX5|Q9P029|Q9UGN1|Q9UGN2|Q9UGN3	Silent	SNP	ENST00000344018.3	37	c.1095C>T																																																																																					0.458	NELFCD-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198976		12	61	0	0	0	0.000978	0	12	61				
ZNF831	128611	broad.mit.edu	37	20	57769446	57769446	+	Silent	SNP	G	G	T	rs150212573	byFrequency	TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr20:57769446G>T	ENST00000371030.2	+	1	3372	c.3372G>T	c.(3370-3372)ccG>ccT	p.P1124P		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1124							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GCCCCGACCCGTGTTCCCCCC	0.667																																							uc002yan.2		NA																	0				skin(13)|ovary(1)	14						c.(3370-3372)CCG>CCT		zinc finger protein 831							34.0	38.0	37.0					20																	57769446		1902	4113	6015	SO:0001819	synonymous_variant	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57769446G>T	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.3372G>T	20.37:g.57769446G>T							p.P1124P	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			1	3372	+	all_lung(29;0.0085)		1124					Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	c.3372G>T	CCDS42894.1																																																																																				0.667	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		11	30	1	0	4.36969e-10	0.001855	6.03318e-10	11	30				
CDH4	1002	broad.mit.edu	37	20	60508126	60508126	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr20:60508126G>A	ENST00000360469.5	+	14	2411	c.2323G>A	c.(2323-2325)Gac>Aac	p.D775N	CDH4_ENST00000543233.1_Missense_Mutation_p.D701N	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	775					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|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)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CCCCGAGGACGACGTCCGCGA	0.662																																							uc002ybn.1		NA																	0				lung(3)|ovary(2)|skin(1)	6						c.(2323-2325)GAC>AAC		cadherin 4, type 1 preproprotein							109.0	78.0	88.0					20																	60508126		2203	4300	6503	SO:0001583	missense	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60508126G>A	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.2323G>A	20.37:g.60508126G>A	ENSP00000353656:p.Asp775Asn					CDH4_uc002ybp.1_Missense_Mutation_p.D701N	p.D775N	NM_001794	NP_001785	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		14	2337	+			775			Cytoplasmic (Potential).		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	c.2323G>A	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	G	35	5.539429	0.96474	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	D;D	0.81821	-1.54;-1.54	4.18	4.18	0.49190	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.90024	0.6885	M	0.83692	2.655	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91296	0.5063	9	.	.	.	.	16.8555	0.86005	0.0:0.0:1.0:0.0	.	775	P55283	CADH4_HUMAN	N	775;683;701	ENSP00000353656:D775N;ENSP00000443301:D701N	.	D	+	1	0	CDH4	59941521	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.448000	0.97600	2.027000	0.59764	0.563000	0.77884	GAC		0.662	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		29	56	0	0	0	0.004878	0	29	56				
SLC17A9	63910	broad.mit.edu	37	20	61598070	61598070	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr20:61598070C>T	ENST00000370351.4	+	12	1264	c.1133C>T	c.(1132-1134)gCc>gTc	p.A378V	SLC17A9_ENST00000370349.3_Missense_Mutation_p.A372V|SLC17A9_ENST00000488738.1_3'UTR	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	378					exocytosis (GO:0006887)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						GCCAACACAGCCGGGGCCTTG	0.662																																							uc002yea.3		NA																	0				ovary(1)|skin(1)	2						c.(1132-1134)GCC>GTC		vesicular nucleotide transporter SLC17A9							84.0	92.0	89.0					20																	61598070		1961	4135	6096	SO:0001583	missense	63910				exocytosis|transmembrane transport	integral to membrane	transporter activity	g.chr20:61598070C>T	AK027065	CCDS42901.1	20q13.33	2013-07-18	2013-07-18	2009-01-22	ENSG00000101194	ENSG00000101194		"""Solute carriers"""	16192	protein-coding gene	gene with protein product		612107	"""chromosome 20 open reading frame 59"", ""solute carrier family 17, member 9"""	C20orf59		18375752	Standard	NM_022082		Approved	FLJ23412, VNUT	uc002yea.4	Q9BYT1	OTTHUMG00000032951	ENST00000370351.4:c.1133C>T	20.37:g.61598070C>T	ENSP00000359376:p.Ala378Val					SLC17A9_uc002ydz.3_Missense_Mutation_p.A372V|SLC17A9_uc011aap.1_Missense_Mutation_p.A398V	p.A378V	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN			12	1317	+			378			Helical; (Potential).		B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	Missense_Mutation	SNP	ENST00000370351.4	37	c.1133C>T	CCDS42901.1	.	.	.	.	.	.	.	.	.	.	C	6.722	0.502002	0.12822	.	.	ENSG00000101194	ENST00000370351;ENST00000370349	T;T	0.58060	0.36;0.36	4.94	4.94	0.65067	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.212169	0.48286	D	0.000193	T	0.36386	0.0965	N	0.17248	0.465	0.34242	D	0.677738	B;B;B	0.17852	0.023;0.024;0.007	B;B;B	0.23716	0.048;0.028;0.016	T	0.43940	-0.9360	10	0.20519	T	0.43	.	13.0093	0.58722	0.0:0.6962:0.3038:0.0	.	398;378;372	B4DPU8;Q9BYT1;Q9BYT1-2	.;S17A9_HUMAN;.	V	378;372	ENSP00000359376:A378V;ENSP00000359374:A372V	ENSP00000359374:A372V	A	+	2	0	SLC17A9	61068515	0.991000	0.36638	0.976000	0.42696	0.848000	0.48234	4.092000	0.57707	2.261000	0.74972	0.561000	0.74099	GCC		0.662	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080100.1	NM_022082		28	65	0	0	0	0.002445	0	28	65				
GMEB2	26205	broad.mit.edu	37	20	62223416	62223416	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr20:62223416T>A	ENST00000266068.1	-	8	1389	c.911A>T	c.(910-912)cAg>cTg	p.Q304L	GMEB2_ENST00000370069.1_Missense_Mutation_p.Q253L|GMEB2_ENST00000370077.1_Missense_Mutation_p.Q304L			Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding protein 2	304					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			GCGGTCCATCTGGCACTTGTG	0.622																																							uc002yfp.1		NA																	0					0						c.(910-912)CAG>CTG		glucocorticoid modulatory element binding							88.0	65.0	73.0					20																	62223416		2203	4300	6503	SO:0001583	missense	26205				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding	g.chr20:62223416T>A	AF173867	CCDS13528.1	20q13.33	2008-07-02			ENSG00000101216	ENSG00000101216			4371	protein-coding gene	gene with protein product		607451				10523663, 11743720	Standard	NM_012384		Approved	P79PIF, KIAA1269, PIF79	uc002yfq.1	Q9UKD1	OTTHUMG00000032988	ENST00000266068.1:c.911A>T	20.37:g.62223416T>A	ENSP00000266068:p.Gln304Leu					GMEB2_uc002yfo.1_Missense_Mutation_p.Q226L|GMEB2_uc002yfq.1_Missense_Mutation_p.Q304L	p.Q304L	NM_012384	NP_036516	Q9UKD1	GMEB2_HUMAN	Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)		8	1390	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		304			Potential.		E1P5J3|Q5TDS0|Q9H431|Q9H4X7|Q9H4X8|Q9UF78|Q9ULF1	Missense_Mutation	SNP	ENST00000266068.1	37	c.911A>T	CCDS13528.1	.	.	.	.	.	.	.	.	.	.	T	34	5.397566	0.96009	.	.	ENSG00000101216	ENST00000370069;ENST00000370077;ENST00000266068	T;T;T	0.70164	-0.46;0.11;0.11	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.77157	0.4089	M	0.63843	1.955	0.58432	D	0.999992	P	0.51537	0.946	P	0.60415	0.874	T	0.80096	-0.1525	10	0.87932	D	0	-14.7177	14.4897	0.67642	0.0:0.0:0.0:1.0	.	304	Q9UKD1	GMEB2_HUMAN	L	253;304;304	ENSP00000359086:Q253L;ENSP00000359094:Q304L;ENSP00000266068:Q304L	ENSP00000266068:Q304L	Q	-	2	0	GMEB2	61693860	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.508000	0.81686	1.895000	0.54865	0.533000	0.62120	CAG		0.622	GMEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080166.1	NM_012384		26	51	0	0	0	0.007291	0	26	51				
RTEL1	51750	broad.mit.edu	37	20	62321784	62321784	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr20:62321784G>C	ENST00000360203.5	+	26	2728	c.2403G>C	c.(2401-2403)caG>caC	p.Q801H	RTEL1_ENST00000318100.4_Missense_Mutation_p.Q801H|RTEL1_ENST00000370018.3_Missense_Mutation_p.Q801H|RTEL1_ENST00000370003.1_Missense_Mutation_p.Q46H|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.Q801H|RTEL1_ENST00000508582.2_Missense_Mutation_p.Q825H					regulator of telomere elongation helicase 1											NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			GCCTGAAGCAGAGGTCCTCAG	0.697																																							uc002yfu.1		NA																	0					0						c.(2401-2403)CAG>CAC		regulator of telomere elongation helicase 1							33.0	35.0	34.0					20																	62321784		2198	4289	6487	SO:0001583	missense	51750				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding	g.chr20:62321784G>C	AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"""chromosome 20 open reading frame 41"""	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.2403G>C	20.37:g.62321784G>C	ENSP00000353332:p.Gln801His					RTEL1_uc011abc.1_RNA|RTEL1_uc002yft.1_Missense_Mutation_p.Q801H|RTEL1_uc011abd.1_Missense_Mutation_p.Q825H|RTEL1_uc011abe.1_Missense_Mutation_p.Q578H|RTEL1_uc002yfw.2_RNA|RTEL1_uc002yfx.1_Missense_Mutation_p.Q46H	p.Q801H	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)		26	2746	+	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		801						Missense_Mutation	SNP	ENST00000360203.5	37	c.2403G>C		.	.	.	.	.	.	.	.	.	.	G	18.12	3.553461	0.65425	.	.	ENSG00000258366	ENST00000370018;ENST00000318100;ENST00000508582;ENST00000360203;ENST00000425905;ENST00000370003	T;T;T;T;T;T	0.10382	2.88;2.88;2.88;2.88;2.88;2.88	4.16	2.09	0.27110	.	0.538697	0.20144	N	0.098304	T	0.18759	0.0450	L	0.44542	1.39	0.09310	N	1	P;D;B;P	0.61080	0.836;0.989;0.008;0.836	P;P;B;P	0.58172	0.532;0.834;0.01;0.6	T	0.06215	-1.0839	10	0.39692	T	0.17	-3.1628	12.7926	0.57543	0.0:0.315:0.685:0.0	.	825;46;801;801	Q9NZ71-7;Q9NZ71-5;Q9NZ71;Q9NZ71-6	.;.;RTEL1_HUMAN;.	H	801;801;825;801;194;46	ENSP00000359035:Q801H;ENSP00000322287:Q801H;ENSP00000424307:Q825H;ENSP00000353332:Q801H;ENSP00000388063:Q194H;ENSP00000359020:Q46H	ENSP00000353332:Q801H	Q	+	3	2	AL353715.1	61792228	0.000000	0.05858	0.001000	0.08648	0.714000	0.41099	0.479000	0.22228	0.356000	0.24157	0.563000	0.77884	CAG		0.697	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000289781.1	NM_032957		13	30	0	0	0	0.004007	0	13	30				
TPTE	7179	broad.mit.edu	37	21	10969100	10969100	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr21:10969100C>T	ENST00000361285.4	-	7	477	c.148G>A	c.(148-150)Gcc>Acc	p.A50T	TPTE_ENST00000342420.5_Intron|TPTE_ENST00000298232.7_Intron|TPTE_ENST00000415664.2_Intron	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	50					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GACACCCGGGCTGCTCCTTTA	0.468																																							uc002yip.1		NA																	0				ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(148-150)GCC>ACC		transmembrane phosphatase with tensin homology							215.0	206.0	209.0					21																	10969100		2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10969100C>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.148G>A	21.37:g.10969100C>T	ENSP00000355208:p.Ala50Thr					TPTE_uc002yis.1_Intron|TPTE_uc002yiq.1_Intron|TPTE_uc002yir.1_Intron|TPTE_uc010gkv.1_Intron	p.A50T	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	7	516	-			50					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.148G>A	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	C	3.424	-0.117436	0.06838	.	.	ENSG00000166157	ENST00000361285;ENST00000328758	D	0.95205	-3.64	0.558	-1.12	0.09808	.	0.678279	0.11001	U	0.610525	D	0.84714	0.5533	N	0.14661	0.345	0.09310	N	1	B	0.23377	0.084	B	0.23419	0.046	T	0.71764	-0.4494	9	0.16896	T	0.51	9.0364	.	.	.	.	50	P56180	TPTE_HUMAN	T	50;32	ENSP00000355208:A50T	ENSP00000399471:A32T	A	-	1	0	TPTE	9990971	0.000000	0.05858	0.003000	0.11579	0.002000	0.02628	-2.050000	0.01404	-0.565000	0.06061	-0.755000	0.03482	GCC		0.468	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			25	134	0	0	0	0.008361	0	25	134				
KRTAP19-2	337969	broad.mit.edu	37	21	31859618	31859618	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr21:31859618T>C	ENST00000334055.3	-	1	137	c.50A>G	c.(49-51)tAt>tGt	p.Y17C		NM_181608.1	NP_853639.1	Q3LHN2	KR192_HUMAN	keratin associated protein 19-2	17						intermediate filament (GO:0005882)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						GCCGCAGCCATAGCCCAGTCT	0.557																																							uc011acy.1		NA																	0					0						c.(49-51)TAT>TGT		keratin associated protein 19-2							155.0	151.0	153.0					21																	31859618		2203	4300	6503	SO:0001583	missense	337969					intermediate filament		g.chr21:31859618T>C	AP001708	CCDS13595.1	21q22.1	2006-03-13			ENSG00000186965	ENSG00000186965		"""Keratin associated proteins"""	18937	protein-coding gene	gene with protein product						12359730	Standard	NM_181608		Approved	KAP19.2	uc011acy.2	Q3LHN2	OTTHUMG00000057772	ENST00000334055.3:c.50A>G	21.37:g.31859618T>C	ENSP00000335660:p.Tyr17Cys						p.Y17C	NM_181608	NP_853639	Q3LHN2	KR192_HUMAN			1	50	-			17						Missense_Mutation	SNP	ENST00000334055.3	37	c.50A>G	CCDS13595.1	.	.	.	.	.	.	.	.	.	.	-	2.888	-0.230226	0.05983	.	.	ENSG00000186965	ENST00000334055	T	0.13657	2.57	4.46	-8.14	0.01069	.	1.423350	0.05049	N	0.477866	T	0.08447	0.0210	.	.	.	0.09310	N	1	B	0.12630	0.006	B	0.15052	0.012	T	0.39099	-0.9630	9	0.87932	D	0	.	4.7161	0.12896	0.1197:0.5212:0.1219:0.2372	.	17	Q3LHN2	KR192_HUMAN	C	17	ENSP00000335660:Y17C	ENSP00000335660:Y17C	Y	-	2	0	KRTAP19-2	30781489	0.000000	0.05858	0.000000	0.03702	0.264000	0.26372	-1.335000	0.02662	-1.815000	0.01222	-0.256000	0.11100	TAT		0.557	KRTAP19-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128224.3			5	190	0	0	0	0.001168	0	5	190				
TIAM1	7074	broad.mit.edu	37	21	32598231	32598231	+	Silent	SNP	G	G	T	rs143707356	byFrequency	TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr21:32598231G>T	ENST00000286827.3	-	8	2091	c.1620C>A	c.(1618-1620)acC>acA	p.T540T	TIAM1_ENST00000541036.1_Silent_p.T540T|TIAM1_ENST00000469412.1_5'UTR	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	540	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						AGTGGATGGCGGTGATCCAGT	0.527																																							uc002yow.1		NA																	0				lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						c.(1618-1620)ACC>ACA		T-cell lymphoma invasion and metastasis 1							82.0	80.0	81.0					21																	32598231		2203	4300	6503	SO:0001819	synonymous_variant	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32598231G>T		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.1620C>A	21.37:g.32598231G>T						TIAM1_uc011adk.1_Silent_p.T540T|TIAM1_uc011adl.1_Silent_p.T540T|TIAM1_uc002yox.1_Silent_p.T148T	p.T540T	NM_003253	NP_003244	Q13009	TIAM1_HUMAN			8	2092	-			540			PH 1.		B7ZLR6|F5GZ53|Q17RT7	Silent	SNP	ENST00000286827.3	37	c.1620C>A	CCDS13609.1																																																																																				0.527	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		12	20	1	0	2.61681e-11	0.00245	3.72008e-11	12	20				
MORC3	23515	broad.mit.edu	37	21	37713755	37713755	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr21:37713755G>T	ENST00000400485.1	+	6	743	c.667G>T	c.(667-669)Gag>Tag	p.E223*	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	223					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						CAGAATTCCCGAGGATTTAGA	0.368																																							uc002yvi.2		NA																	0				ovary(2)	2						c.(667-669)GAG>TAG		MORC family CW-type zinc finger 3							96.0	102.0	100.0					21																	37713755		1835	4094	5929	SO:0001587	stop_gained	23515				cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding	g.chr21:37713755G>T	AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"""zinc finger, CW-type with coiled-coil domain 3"", ""zinc finger, CW type with coiled-coil domain 3"""	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.667G>T	21.37:g.37713755G>T	ENSP00000383333:p.Glu223*						p.E223*	NM_015358	NP_056173	Q14149	MORC3_HUMAN			6	743	+			223					A8KA92|Q9UEZ2	Nonsense_Mutation	SNP	ENST00000400485.1	37	c.667G>T	CCDS42924.1	.	.	.	.	.	.	.	.	.	.	G	37	6.069193	0.97256	.	.	ENSG00000159256	ENST00000400485	.	.	.	5.5	5.5	0.81552	.	0.276623	0.37437	N	0.002089	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-24.7123	19.7641	0.96334	0.0:0.0:1.0:0.0	.	.	.	.	X	223	.	ENSP00000383333:E223X	E	+	1	0	MORC3	36635625	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.849000	0.55910	2.733000	0.93635	0.650000	0.86243	GAG		0.368	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000194640.1	NM_015358		13	25	1	0	0.000151284	0.001855	0.000170553	13	25				
UBASH3A	53347	broad.mit.edu	37	21	43833560	43833560	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr21:43833560G>T	ENST00000319294.6	+	5	626	c.595G>T	c.(595-597)Gga>Tga	p.G199*	UBASH3A_ENST00000398367.1_Intron|UBASH3A_ENST00000291535.6_Intron	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	199					negative regulation of T cell receptor signaling pathway (GO:0050860)|regulation of cytokine production (GO:0001817)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						CCAGGTGCCTGGACATGGCCC	0.552																																							uc002zbe.2		NA																	0				ovary(3)	3						c.(595-597)GGA>TGA		ubiquitin associated and SH3 domain containing,							55.0	52.0	53.0					21																	43833560		2203	4300	6503	SO:0001587	stop_gained	53347					cytosol|nucleus		g.chr21:43833560G>T	AJ277750	CCDS13687.1, CCDS33566.1, CCDS58791.1	21q22.3	2010-04-28	2010-04-28		ENSG00000160185	ENSG00000160185			12462	protein-coding gene	gene with protein product		605736				11281453	Standard	NM_018961		Approved	STS-2, TULA, CLIP4	uc002zbf.3	P57075	OTTHUMG00000086805	ENST00000319294.6:c.595G>T	21.37:g.43833560G>T	ENSP00000317327:p.Gly199*					UBASH3A_uc002zbf.2_Intron|UBASH3A_uc010gpc.2_Intron|UBASH3A_uc010gpd.2_Intron|UBASH3A_uc010gpe.2_Intron	p.G199*	NM_018961	NP_061834	P57075	UBS3A_HUMAN			5	631	+			199					G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9	Nonsense_Mutation	SNP	ENST00000319294.6	37	c.595G>T	CCDS13687.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.202810	0.38905	.	.	ENSG00000160185	ENST00000319294	.	.	.	2.55	-5.09	0.02920	.	10.491100	0.00166	N	0.000000	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	2.2428	0.04024	0.1911:0.2067:0.4541:0.1481	.	.	.	.	X	199	.	ENSP00000317327:G199X	G	+	1	0	UBASH3A	42706629	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.157000	0.03157	-3.089000	0.00248	-0.293000	0.09583	GGA		0.552	UBASH3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195382.1	NM_001001895		13	15	1	0	3.41278e-10	0.00499	4.72955e-10	13	15				
POTEH	23784	broad.mit.edu	37	22	16287778	16287778	+	Silent	SNP	C	C	T	rs200767395		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr22:16287778C>T	ENST00000343518.6	-	1	159	c.108G>A	c.(106-108)agG>agA	p.R36R		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	36										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TGCCGCTCCCCCTGCACCAGG	0.587																																							uc010gqp.2		NA																	0				skin(1)	1						c.(106-108)AGG>AGA		ANKRD26-like family C, member 3							100.0	121.0	114.0					22																	16287778		1976	3780	5756	SO:0001819	synonymous_variant	23784							g.chr22:16287778C>T	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.108G>A	22.37:g.16287778C>T						POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_5'UTR	p.R36R	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN			1	160	-			36					A2CEK4|A6NCI1|A9Z1W0	Silent	SNP	ENST00000343518.6	37	c.108G>A	CCDS46658.1																																																																																				0.587	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		60	48	0	0	0	0.00361	0	60	48				
CCT8L2	150160	broad.mit.edu	37	22	17072823	17072823	+	Nonsense_Mutation	SNP	G	G	T	rs137862002		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr22:17072823G>T	ENST00000359963.3	-	1	877	c.618C>A	c.(616-618)tgC>tgA	p.C206*		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	206					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)	p.C206C(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CGGGCAGCGCGCACACCCCAA	0.617																																							uc002zlp.1		NA																	1	Substitution - coding silent(1)		prostate(1)	ovary(1)	1						c.(616-618)TGC>TGA		T-complex protein 1							64.0	63.0	64.0					22																	17072823		2203	4300	6503	SO:0001587	stop_gained	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17072823G>T	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.618C>A	22.37:g.17072823G>T	ENSP00000353048:p.Cys206*						p.C206*	NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN			1	878	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	206					A4QPH3|Q9UJS3	Nonsense_Mutation	SNP	ENST00000359963.3	37	c.618C>A	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	g	23.9	4.472845	0.84640	.	.	ENSG00000198445	ENST00000359963	.	.	.	1.78	1.78	0.24846	.	0.000000	0.35555	U	0.003125	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-12.0293	7.0003	0.24805	0.0:0.0:1.0:0.0	.	.	.	.	X	206	.	ENSP00000353048:C206X	C	-	3	2	CCT8L2	15452823	0.874000	0.30092	0.059000	0.19551	0.042000	0.13812	0.945000	0.29056	0.995000	0.38917	0.379000	0.24179	TGC		0.617	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			16	70	1	0	2.35188e-11	0.006122	3.34985e-11	16	70				
DGCR14	8220	broad.mit.edu	37	22	19121734	19121734	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr22:19121734C>A	ENST00000252137.6	-	10	1449	c.1406G>T	c.(1405-1407)cGg>cTg	p.R469L		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	469					mRNA splicing, via spliceosome (GO:0000398)|nervous system development (GO:0007399)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					AGCTTTGCGCCGGGCAGGGAG	0.647																																							uc002zou.2		NA																	0				ovary(1)	1						c.(1405-1407)CGG>CTG		DiGeorge syndrome critical region protein 14							46.0	46.0	46.0					22																	19121734		2203	4300	6503	SO:0001583	missense	8220				nervous system development	catalytic step 2 spliceosome		g.chr22:19121734C>A	L77566	CCDS13756.1	22q11.21	2007-02-20			ENSG00000100056	ENSG00000100056			16817	protein-coding gene	gene with protein product		601755	"""DiGeorge syndrome critical region gene 13"""	DGCR13		8776594, 9063747	Standard	NM_022719		Approved	DGSI, Es2el, ES2, DGS-H	uc002zou.3	Q96DF8	OTTHUMG00000150119	ENST00000252137.6:c.1406G>T	22.37:g.19121734C>A	ENSP00000252137:p.Arg469Leu					DGCR14_uc002zot.2_Missense_Mutation_p.R390L|DGCR14_uc002zov.2_RNA	p.R469L	NM_022719	NP_073210	Q96DF8	DGC14_HUMAN			10	1443	-	Colorectal(54;0.0993)		469					Q49AH7|Q9BTZ4	Missense_Mutation	SNP	ENST00000252137.6	37	c.1406G>T	CCDS13756.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.957739	0.92726	.	.	ENSG00000100056	ENST00000252137	T	0.33438	1.41	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.58722	0.2142	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.65940	-0.6046	10	0.87932	D	0	-20.6842	17.1501	0.86775	0.0:1.0:0.0:0.0	.	469	Q96DF8	DGC14_HUMAN	L	469	ENSP00000252137:R469L	ENSP00000252137:R469L	R	-	2	0	DGCR14	17501734	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.320000	0.79064	2.374000	0.81015	0.591000	0.81541	CGG		0.647	DGCR14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316432.2			7	25	1	0	0.000274275	0.004482	0.000304364	7	25				
HIRA	7290	broad.mit.edu	37	22	19379649	19379649	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr22:19379649C>A	ENST00000263208.5	-	9	1167	c.911G>T	c.(910-912)aGc>aTc	p.S304I	HIRA_ENST00000340170.4_Missense_Mutation_p.S304I|HIRA_ENST00000541063.1_Missense_Mutation_p.S260I|HIRA_ENST00000546308.1_Missense_Mutation_p.S260I	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	304					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					GCGGTCCTTGCTGCCAACAGC	0.493																																							uc002zpf.1		NA																	0				ovary(1)	1						c.(910-912)AGC>ATC		HIR histone cell cycle regulation defective							89.0	79.0	82.0					22																	19379649		2203	4300	6503	SO:0001583	missense	7290				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr22:19379649C>A	X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"""WD repeat domain containing"""	4916	protein-coding gene	gene with protein product	"""DiGeorge critical region gene 1"""	600237	"""HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)"", ""HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"""	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.911G>T	22.37:g.19379649C>A	ENSP00000263208:p.Ser304Ile					HIRA_uc011agx.1_Missense_Mutation_p.S170I|HIRA_uc010grn.1_Missense_Mutation_p.S304I|HIRA_uc010gro.1_Missense_Mutation_p.S260I|HIRA_uc010grp.2_RNA	p.S304I	NM_003325	NP_003316	P54198	HIRA_HUMAN			9	1131	-	Colorectal(54;0.0993)		304			WD 6.		Q05BU9|Q8IXN2	Missense_Mutation	SNP	ENST00000263208.5	37	c.911G>T	CCDS13759.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.939942	0.92526	.	.	ENSG00000100084	ENST00000340170;ENST00000263208;ENST00000541063;ENST00000546308	T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85	4.83	4.83	0.62350	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.89556	0.6749	M	0.92604	3.325	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.999	D;D;D	0.83275	0.991;0.991;0.996	D	0.92011	0.5618	10	0.72032	D	0.01	-17.8962	18.102	0.89508	0.0:1.0:0.0:0.0	.	260;304;304	F5H4M2;P54198-2;P54198	.;.;HIRA_HUMAN	I	304;304;260;260	ENSP00000345350:S304I;ENSP00000263208:S304I;ENSP00000446073:S260I;ENSP00000441870:S260I	ENSP00000263208:S304I	S	-	2	0	HIRA	17759649	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.126000	0.77201	2.521000	0.84997	0.650000	0.86243	AGC		0.493	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	NM_003325		14	33	1	0	4.7546e-09	0.004007	6.35229e-09	14	33				
MMP11	4320	broad.mit.edu	37	22	24124584	24124584	+	Missense_Mutation	SNP	G	G	A	rs374753818		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr22:24124584G>A	ENST00000215743.3	+	7	1299	c.1247G>A	c.(1246-1248)cGg>cAg	p.R416Q	AP000349.1_ENST00000598975.1_Silent_p.A210A	NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)	416					basement membrane organization (GO:0071711)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|negative regulation of fat cell differentiation (GO:0045599)|proteolysis (GO:0006508)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)			Marimastat(DB00786)	CCCAGCACCCGGCGTGTAGAC	0.632																																							uc002zxx.2		NA																	0				skin(2)|large_intestine(1)	3						c.(1246-1248)CGG>CAG		matrix metalloproteinase 11 preproprotein		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	51.0	45.0	47.0		1247	1.7	0.7	22		47	0,8600		0,0,4300	no	missense	MMP11	NM_005940.3	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	416/489	24124584	1,13005	2203	4300	6503	SO:0001583	missense	4320				collagen catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr22:24124584G>A		CCDS13816.1	22q11.23	2008-06-11	2005-08-08		ENSG00000099953	ENSG00000099953			7157	protein-coding gene	gene with protein product		185261	"""matrix metalloproteinase 11 (stromelysin 3)"""	STMY3		1639418, 7657606, 12006591	Standard	NM_005940		Approved		uc002zxx.3	P24347	OTTHUMG00000150742	ENST00000215743.3:c.1247G>A	22.37:g.24124584G>A	ENSP00000215743:p.Arg416Gln					MMP11_uc002zxy.2_RNA|MMP11_uc002zxz.2_RNA	p.R416Q	NM_005940	NP_005931	P24347	MMP11_HUMAN			7	1269	+		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)	416			Hemopexin-like 3.		Q5FX24|Q6PEZ6|Q9UC26	Missense_Mutation	SNP	ENST00000215743.3	37	c.1247G>A	CCDS13816.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.173656	0.38413	2.27E-4	0.0	ENSG00000099953	ENST00000215743	T	0.20881	2.04	4.93	1.68	0.24146	Hemopexin/matrixin (2);	0.282320	0.40469	N	0.001087	T	0.10508	0.0257	N	0.21373	0.66	0.31769	N	0.632347	B	0.30211	0.273	B	0.19946	0.027	T	0.28170	-1.0052	10	0.14656	T	0.56	.	9.3304	0.38018	0.232:0.0:0.768:0.0	.	416	P24347	MMP11_HUMAN	Q	416	ENSP00000215743:R416Q	ENSP00000215743:R416Q	R	+	2	0	MMP11	22454584	0.006000	0.16342	0.702000	0.30337	0.586000	0.36452	0.608000	0.24223	0.371000	0.24564	0.585000	0.79938	CGG		0.632	MMP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319891.2	NM_005940		7	31	0	0	0	0.001984	0	7	31				
MYO18B	84700	broad.mit.edu	37	22	26224872	26224872	+	Silent	SNP	T	T	C	rs369473785		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr22:26224872T>C	ENST00000407587.2	+	15	3085	c.2916T>C	c.(2914-2916)caT>caC	p.H972H	MYO18B_ENST00000335473.7_Silent_p.H972H|MYO18B_ENST00000536101.1_Silent_p.H972H			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	972	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						ACTACGCCCATGAGCGCCTGC	0.617																																							uc003abz.1		NA																	0				ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						c.(2914-2916)CAT>CAC		myosin XVIIIB		T		1,4127		0,1,2063	72.0	80.0	77.0		2916	-9.4	0.0	22		77	0,8424		0,0,4212	no	coding-synonymous	MYO18B	NM_032608.5		0,1,6275	CC,CT,TT		0.0,0.0242,0.0080		972/2568	26224872	1,12551	2064	4212	6276	SO:0001819	synonymous_variant	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26224872T>C	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.2916T>C	22.37:g.26224872T>C						MYO18B_uc003aca.1_Silent_p.H853H|MYO18B_uc010guy.1_Silent_p.H853H|MYO18B_uc010guz.1_Silent_p.H853H|MYO18B_uc011aka.1_Silent_p.H126H|MYO18B_uc011akb.1_Silent_p.H485H	p.H972H	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			15	3166	+			972			Myosin head-like.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP	ENST00000407587.2	37	c.2916T>C																																																																																					0.617	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		13	18	0	0	0	0.003163	0	13	18				
MYO18B	84700	broad.mit.edu	37	22	26351286	26351286	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr22:26351286C>A	ENST00000407587.2	+	39	6284	c.6115C>A	c.(6115-6117)Ctg>Atg	p.L2039M	MYO18B_ENST00000335473.7_Missense_Mutation_p.L2038M|MYO18B_ENST00000536101.1_Missense_Mutation_p.L2038M			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2038	Tail.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CATGGAAGAGCTGGTGCAGCG	0.637																																							uc003abz.1		NA																	0				ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						c.(6112-6114)CTG>ATG		myosin XVIIIB							30.0	38.0	36.0					22																	26351286		2025	4176	6201	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26351286C>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.6115C>A	22.37:g.26351286C>A	ENSP00000386096:p.Leu2039Met					MYO18B_uc003aca.1_Missense_Mutation_p.L1919M|MYO18B_uc010guy.1_Missense_Mutation_p.L1920M|MYO18B_uc010guz.1_Missense_Mutation_p.L1918M|MYO18B_uc011aka.1_Missense_Mutation_p.L1192M|MYO18B_uc011akb.1_Missense_Mutation_p.L1551M|MYO18B_uc010gva.1_Missense_Mutation_p.L36M	p.L2038M	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			39	6362	+			2038			Tail.|Potential.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.6112C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.76|15.76	2.929426|2.929426	0.52759|0.52759	.|.	.|.	ENSG00000133454|ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587|ENST00000543971	D;D;D|.	0.88818|.	-2.41;-2.41;-2.43|.	4.86|4.86	2.74|2.74	0.32292|0.32292	.|.	0.000000|.	0.56097|.	D|.	0.000030|.	T|T	0.61887|0.61887	0.2383|0.2383	M|M	0.78801|0.78801	2.425|2.425	0.32180|0.32180	N|N	0.580504|0.580504	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.91635|.	0.999;0.999;0.999;0.999;0.999|.	T|T	0.68104|0.68104	-0.5497|-0.5497	10|5	0.87932|.	D|.	0|.	.|.	8.9234|8.9234	0.35625|0.35625	0.0:0.7559:0.0:0.2441|0.0:0.7559:0.0:0.2441	.|.	1551;2040;2038;2039;2038|.	Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7|.	.;.;MY18B_HUMAN;.;.|.	M|R	2038;2038;2039|2	ENSP00000441229:L2038M;ENSP00000334563:L2038M;ENSP00000386096:L2039M|.	ENSP00000334563:L2038M|.	L|S	+|+	1|3	2|2	MYO18B|MYO18B	24681286|24681286	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.549000|0.549000	0.35272|0.35272	1.696000|1.696000	0.37773|0.37773	1.183000|1.183000	0.42943|0.42943	-0.216000|-0.216000	0.12614|0.12614	CTG|AGC		0.637	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		12	27	1	0	3.45872e-05	0.004007	3.9962e-05	12	27				
SEZ6L	23544	broad.mit.edu	37	22	26701954	26701954	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr22:26701954G>A	ENST00000248933.6	+	6	1453	c.1358G>A	c.(1357-1359)gGa>gAa	p.G453E	SEZ6L_ENST00000403121.1_Missense_Mutation_p.G226E|SEZ6L_ENST00000343706.4_Missense_Mutation_p.G453E|SEZ6L_ENST00000360929.3_Missense_Mutation_p.G453E|SEZ6L_ENST00000529632.2_Missense_Mutation_p.G453E|SEZ6L_ENST00000404234.3_Missense_Mutation_p.G453E|SEZ6L_ENST00000402979.1_Missense_Mutation_p.G226E			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	453	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				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						GCTCCTTGTGGAGGGGCAGTG	0.547																																							uc003acb.2		NA																	0				ovary(4)|central_nervous_system(1)|pancreas(1)	6						c.(1357-1359)GGA>GAA		seizure related 6 homolog (mouse)-like							58.0	55.0	56.0					22																	26701954		2203	4300	6503	SO:0001583	missense	23544					endoplasmic reticulum membrane|integral to membrane		g.chr22:26701954G>A	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.1358G>A	22.37:g.26701954G>A	ENSP00000248933:p.Gly453Glu					SEZ6L_uc003acc.2_Missense_Mutation_p.G453E|SEZ6L_uc011akc.1_Missense_Mutation_p.G453E|SEZ6L_uc003acd.2_Missense_Mutation_p.G453E|SEZ6L_uc011akd.1_Missense_Mutation_p.G453E|SEZ6L_uc003ace.2_Missense_Mutation_p.G453E|SEZ6L_uc003acf.1_Missense_Mutation_p.G226E|SEZ6L_uc010gvc.1_Missense_Mutation_p.G226E	p.G453E	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN			6	1514	+			453			CUB 2.|Extracellular (Potential).		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	c.1358G>A	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.946240	0.73672	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979	T;T;T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87;1.87;1.87	4.86	4.86	0.63082	Complement control module (1);CUB (5);	0.000000	0.56097	D	0.000039	T	0.58750	0.2144	M	0.89214	3.015	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	T	0.67696	-0.5604	10	0.87932	D	0	.	17.1957	0.86892	0.0:0.0:1.0:0.0	.	453;453;226;453;453;453;453	B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;.;SE6L1_HUMAN	E	453;453;453;453;453;226;226	ENSP00000384772:G453E;ENSP00000437037:G453E;ENSP00000354185:G453E;ENSP00000248933:G453E;ENSP00000342661:G453E;ENSP00000384838:G226E;ENSP00000384733:G226E	ENSP00000248933:G453E	G	+	2	0	SEZ6L	25031954	1.000000	0.71417	0.996000	0.52242	0.498000	0.33706	9.036000	0.93758	2.537000	0.85549	0.655000	0.94253	GGA		0.547	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			18	59	0	0	0	0.010504	0	18	59				
RFPL3	10738	broad.mit.edu	37	22	32756382	32756382	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr22:32756382C>A	ENST00000249007.4	+	2	722	c.517C>A	c.(517-519)Cct>Act	p.P173T	RFPL3S_ENST00000382084.4_3'UTR|RFPL3_ENST00000382088.3_Missense_Mutation_p.P144T|RFPL3_ENST00000397468.1_Missense_Mutation_p.P144T|RFPL3S_ENST00000400234.1_3'UTR|RFPL3S_ENST00000461833.1_5'Flank	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	173	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						CCTGGGCTCCCCTCGCTTTAC	0.562																																							uc003amj.2		NA																	0				ovary(1)	1						c.(517-519)CCT>ACT		ret finger protein-like 3 isoform 1							91.0	88.0	89.0					22																	32756382		2203	4298	6501	SO:0001583	missense	10738						zinc ion binding	g.chr22:32756382C>A	AJ010232	CCDS13904.1, CCDS43011.1	22q12	2006-04-25			ENSG00000128276	ENSG00000128276			9980	protein-coding gene	gene with protein product		605970				10508838	Standard	NM_006604		Approved		uc010gwn.3	O75679	OTTHUMG00000030290	ENST00000249007.4:c.517C>A	22.37:g.32756382C>A	ENSP00000249007:p.Pro173Thr					RFPL3_uc010gwn.2_Missense_Mutation_p.P144T|RFPL3S_uc003amk.2_RNA|RFPL3S_uc003aml.2_RNA	p.P173T	NM_001098535	NP_001092005	O75679	RFPL3_HUMAN			2	722	+			173			B30.2/SPRY.		A2A279|Q6IC03|Q6IC04|Q6NSX3|Q8N5R4	Missense_Mutation	SNP	ENST00000249007.4	37	c.517C>A	CCDS43011.1	.	.	.	.	.	.	.	.	.	.	C	4.580	0.107770	0.08780	.	.	ENSG00000128276	ENST00000397468;ENST00000249007;ENST00000382088	T;T;T	0.10192	2.9;2.9;2.9	0.664	-0.796	0.10912	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.14184	0.0343	M	0.64630	1.985	0.09310	N	1	B	0.28439	0.212	B	0.40602	0.334	T	0.45234	-0.9275	9	0.72032	D	0.01	.	2.4795	0.04584	0.0:0.4176:0.3158:0.2666	.	173	O75679	RFPL3_HUMAN	T	144;173;144	ENSP00000380609:P144T;ENSP00000249007:P173T;ENSP00000371520:P144T	ENSP00000249007:P173T	P	+	1	0	RFPL3	31086382	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-1.138000	0.03216	-0.267000	0.09325	0.194000	0.17425	CCT		0.562	RFPL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075172.3	NM_006604		32	63	1	0	8.16904e-11	0.007835	1.15141e-10	32	63				
LARGE	9215	broad.mit.edu	37	22	33733749	33733749	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr22:33733749C>T	ENST00000354992.2	-	11	1741	c.1170G>A	c.(1168-1170)aaG>aaA	p.K390K	LARGE_ENST00000402320.1_Intron|LARGE_ENST00000437602.2_Silent_p.K390K|LARGE_ENST00000337431.2_Intron|LARGE_ENST00000452586.2_Silent_p.K189K|LARGE_ENST00000397394.2_Silent_p.K390K	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	390					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				CATGCTTGTTCTTCACCCGGA	0.562																																					Colon(70;397 1175 4573 19089 45288)	Colon(70;397 1175 4573 19089 45288)	uc003and.3		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1168-1170)AAG>AAA		like-glycosyltransferase							84.0	76.0	79.0					22																	33733749		2203	4300	6503	SO:0001819	synonymous_variant	9215				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	g.chr22:33733749C>T	AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"""Glycosyltransferase family 8 domain containing"""	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.1170G>A	22.37:g.33733749C>T						LARGE_uc011amd.1_Silent_p.K189K|LARGE_uc003ane.3_Silent_p.K390K|LARGE_uc010gwp.2_Intron|LARGE_uc011ame.1_Silent_p.K322K|LARGE_uc011amf.1_Silent_p.K390K|LARGE_uc010gwq.1_RNA	p.K390K	NM_004737	NP_004728	O95461	LARGE_HUMAN			11	1749	-		Lung NSC(1;0.219)	390			Lumenal (Potential).		B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Silent	SNP	ENST00000354992.2	37	c.1170G>A	CCDS13912.1																																																																																				0.562	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2	NM_133642		11	45	0	0	0	0.001368	0	11	45				
RAC2	5880	broad.mit.edu	37	22	37622726	37622726	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr22:37622726C>G	ENST00000249071.6	-	6	687	c.566G>C	c.(565-567)tGc>tCc	p.C189S	RAC2_ENST00000405484.1_Missense_Mutation_p.C182S|RAC2_ENST00000406508.1_Missense_Mutation_p.C145S	NM_002872.3	NP_002863.1	P15153	RAC2_HUMAN	ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)	189					actin filament organization (GO:0007015)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|cell projection assembly (GO:0030031)|G-protein coupled receptor signaling pathway (GO:0007186)|lymphocyte aggregation (GO:0071593)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neutrophil chemotaxis (GO:0090023)|regulation of cell-substrate adhesion (GO:0010810)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of neutrophil migration (GO:1902622)|regulation of respiratory burst (GO:0060263)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	12					Dextromethorphan(DB00514)	GAGGAGGCTGCAGGCGCGCTT	0.632																																							uc003arc.2		NA																	0				breast(2)|central_nervous_system(1)|skin(1)	4						c.(565-567)TGC>TCC		ras-related C3 botulinum toxin substrate 2							46.0	47.0	47.0					22																	37622726		2203	4298	6501	SO:0001583	missense	5880				axon guidance|platelet activation|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr22:37622726C>G	M64595	CCDS13945.1	22q13.1	2014-09-17			ENSG00000128340	ENSG00000128340		"""Endogenous ligands"""	9802	protein-coding gene	gene with protein product		602049				2674130	Standard	NM_002872		Approved	EN-7	uc003arc.3	P15153	OTTHUMG00000150540	ENST00000249071.6:c.566G>C	22.37:g.37622726C>G	ENSP00000249071:p.Cys189Ser						p.C189S	NM_002872	NP_002863	P15153	RAC2_HUMAN			6	683	-			189	C->W: Abolishes in vitro prenylation.				Q9UDJ4	Missense_Mutation	SNP	ENST00000249071.6	37	c.566G>C	CCDS13945.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.354690	0.82243	.	.	ENSG00000128340	ENST00000249071;ENST00000406508;ENST00000405484	T;T;T	0.71579	-0.58;-0.17;-0.53	4.74	4.74	0.60224	.	0.051166	0.85682	D	0.000000	D	0.86694	0.5994	H	0.98407	4.225	0.80722	D	1	P	0.35700	0.516	P	0.44422	0.449	D	0.90859	0.4737	10	0.72032	D	0.01	.	17.7399	0.88404	0.0:1.0:0.0:0.0	.	189	P15153	RAC2_HUMAN	S	189;145;182	ENSP00000249071:C189S;ENSP00000385270:C145S;ENSP00000385590:C182S	ENSP00000249071:C189S	C	-	2	0	RAC2	35952672	1.000000	0.71417	0.998000	0.56505	0.913000	0.54294	5.359000	0.66074	2.170000	0.68504	0.561000	0.74099	TGC		0.632	RAC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318812.1			8	20	0	0	0	0.00308	0	8	20				
TRIOBP	11078	broad.mit.edu	37	22	38109231	38109231	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr22:38109231C>T	ENST00000406386.3	+	5	524	c.269C>T	c.(268-270)tCa>tTa	p.S90L		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	90					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCATCCCCCTCAGCAGGGCTC	0.622																																							uc003atr.2		NA																	0				central_nervous_system(1)	1						c.(268-270)TCA>TTA		TRIO and F-actin binding protein isoform 6							25.0	30.0	28.0					22																	38109231		1882	4116	5998	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38109231C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.269C>T	22.37:g.38109231C>T	ENSP00000384312:p.Ser90Leu					TRIOBP_uc003atu.2_Intron|TRIOBP_uc003atq.1_Missense_Mutation_p.S90L|TRIOBP_uc003ats.1_Intron	p.S90L	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN			5	540	+	Melanoma(58;0.0574)		90					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.269C>T	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	C	9.164	1.019342	0.19355	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.23147	1.92	4.23	-0.157	0.13387	.	.	.	.	.	T	0.14830	0.0358	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.26292	-1.0107	9	0.87932	D	0	.	6.176	0.20444	0.0:0.5577:0.0:0.4423	.	90	Q9H2D6	TARA_HUMAN	L	90	ENSP00000384312:S90L	ENSP00000384312:S90L	S	+	2	0	TRIOBP	36439177	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	0.067000	0.14510	0.183000	0.20059	0.650000	0.86243	TCA		0.622	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			5	10	0	0	0	0.000602	0	5	10				
TRIOBP	11078	broad.mit.edu	37	22	38111769	38111769	+	Splice_Site	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr22:38111769G>T	ENST00000406386.3	+	6	711		c.e6-1			NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein						actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					TTCTCTGGCAGGACTGGGACA	0.587																																							uc003atr.2		NA																	0				central_nervous_system(1)	1						c.e6-1		TRIO and F-actin binding protein isoform 6							20.0	24.0	23.0					22																	38111769		1899	4116	6015	SO:0001630	splice_region_variant	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38111769G>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.457-1G>T	22.37:g.38111769G>T						TRIOBP_uc003atu.2_Splice_Site|TRIOBP_uc003atq.1_Splice_Site_p.D153_splice|TRIOBP_uc003ats.1_Splice_Site	p.D153_splice	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN			6	728	+	Melanoma(58;0.0574)							B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Splice_Site	SNP	ENST00000406386.3	37	c.457_splice	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.509610	0.44660	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9869	0.64341	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TRIOBP	36441715	1.000000	0.71417	0.999000	0.59377	0.395000	0.30598	4.060000	0.57477	2.674000	0.91012	0.555000	0.69702	.		0.587	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2		Intron	7	21	1	0	4.68919e-08	0.008291	6.0898e-08	7	21				
KCNJ4	3761	broad.mit.edu	37	22	38823370	38823370	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr22:38823370C>A	ENST00000303592.3	-	2	1026	c.768G>T	c.(766-768)gtG>gtT	p.V256V	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	KCNJ4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	256					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|PDZ domain binding (GO:0030165)			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					TGATGGGCGACACCAGGAAGA	0.597																																							uc003avs.1		NA																	0					0						c.(766-768)GTG>GTT		potassium inwardly-rectifying channel J4							107.0	89.0	95.0					22																	38823370		2203	4300	6503	SO:0001819	synonymous_variant	3761				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding	g.chr22:38823370C>A	U07364	CCDS13971.1	22q13.1	2011-07-05			ENSG00000168135	ENSG00000168135		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6265	protein-coding gene	gene with protein product		600504				8016146, 16382105	Standard	NM_152868		Approved	Kir2.3, HIR, HRK1, hIRK2, IRK3	uc003avs.1	P48050	OTTHUMG00000151131	ENST00000303592.3:c.768G>T	22.37:g.38823370C>A						KCNJ4_uc003avt.1_Silent_p.V256V	p.V256V	NM_004981	NP_004972	P48050	IRK4_HUMAN			2	865	-	Melanoma(58;0.0286)		256			Cytoplasmic (By similarity).		Q14D44	Silent	SNP	ENST00000303592.3	37	c.768G>T	CCDS13971.1																																																																																				0.597	KCNJ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321447.1	NM_004981		22	36	1	0	2.24059e-21	0.00632	3.76471e-21	22	36				
MGAT3	4248	broad.mit.edu	37	22	39883551	39883551	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr22:39883551C>T	ENST00000341184.6	+	2	414	c.199C>T	c.(199-201)Cct>Tct	p.P67S		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	67	Pro-rich.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0003830)			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					GCCAGGAGGCCCTGACCTGCT	0.682																																							uc003axv.3		NA																	0					0						c.(199-201)CCT>TCT		mannosyl (beta-1,4-)-glycoprotein							66.0	74.0	71.0					22																	39883551		2203	4299	6502	SO:0001583	missense	4248				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity	g.chr22:39883551C>T	D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	2.4.1.144	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7046	protein-coding gene	gene with protein product		604621				8370666	Standard	NM_002409		Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.199C>T	22.37:g.39883551C>T	ENSP00000345270:p.Pro67Ser					MGAT3_uc010gxy.2_Missense_Mutation_p.P67S	p.P67S	NM_002409	NP_002400	Q09327	MGAT3_HUMAN			2	438	+	Melanoma(58;0.04)		67			Lumenal (Potential).|Pro-rich.		A6NGD0|Q14CK5|Q6IC49|Q9UH32	Missense_Mutation	SNP	ENST00000341184.6	37	c.199C>T	CCDS13994.2	.	.	.	.	.	.	.	.	.	.	C	3.254	-0.152552	0.06585	.	.	ENSG00000128268	ENST00000341184;ENST00000429402;ENST00000418314	.	.	.	4.93	3.92	0.45320	.	0.302577	0.28499	N	0.015128	T	0.24624	0.0597	N	0.19112	0.55	0.26964	N	0.96574	B	0.11235	0.004	B	0.09377	0.004	T	0.12682	-1.0538	9	0.51188	T	0.08	.	5.1005	0.14756	0.1477:0.6272:0.1435:0.0816	.	67	Q09327	MGAT3_HUMAN	S	67;67;95	.	ENSP00000345270:P67S	P	+	1	0	MGAT3	38213497	0.200000	0.23398	0.723000	0.30687	0.015000	0.08874	1.034000	0.30204	1.076000	0.40961	-0.373000	0.07131	CCT		0.682	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075039.2	NM_002409		31	58	0	0	0	0.002096	0	31	58				
TEF	7008	broad.mit.edu	37	22	41783641	41783641	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr22:41783641C>T	ENST00000266304.4	+	2	560	c.444C>T	c.(442-444)atC>atT	p.I148I	TEF_ENST00000406644.3_Silent_p.I118I	NM_003216.3	NP_003207.1	Q10587	TEF_HUMAN	thyrotrophic embryonic factor	148					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						CCACTGCCATCTTTCAGCCCT	0.602																																							uc003azy.2		NA																	0				ovary(1)	1						c.(442-444)ATC>ATT		thyrotrophic embryonic factor isoform 1							70.0	48.0	55.0					22																	41783641		2203	4300	6503	SO:0001819	synonymous_variant	7008				rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:41783641C>T		CCDS14014.1, CCDS46716.1	22q13.2	2013-01-10			ENSG00000167074	ENSG00000167074		"""basic leucine zipper proteins"""	11722	protein-coding gene	gene with protein product		188595				7835883, 15665112	Standard	NM_001145398		Approved	KIAA1655	uc003azy.4	Q10587	OTTHUMG00000150968	ENST00000266304.4:c.444C>T	22.37:g.41783641C>T						TEF_uc003azx.2_Silent_p.I118I|TEF_uc011apa.1_Silent_p.I153I	p.I148I	NM_003216	NP_003207	Q10587	TEF_HUMAN			2	530	+			148					B0QYS8|B2RC22|Q15729|Q7Z3J7|Q8IU94|Q96TG4	Silent	SNP	ENST00000266304.4	37	c.444C>T	CCDS14014.1	.	.	.	.	.	.	.	.	.	.	C	9.216	1.032117	0.19590	.	.	ENSG00000167074	ENST00000413942	.	.	.	5.34	3.13	0.36017	.	.	.	.	.	T	0.44850	0.1313	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38243	-0.9670	4	.	.	.	-3.8089	2.4628	0.04546	0.1409:0.5177:0.1371:0.2044	.	.	.	.	F	114	.	.	S	+	2	0	TEF	40113587	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	0.974000	0.29436	1.262000	0.44165	-0.251000	0.11542	TCT		0.602	TEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320692.1	NM_003216		8	21	0	0	0	0.004482	0	8	21				
ARFGAP3	26286	broad.mit.edu	37	22	43203164	43203164	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr22:43203164C>G	ENST00000263245.5	-	14	1545	c.1326G>C	c.(1324-1326)gaG>gaC	p.E442D	ARFGAP3_ENST00000429508.2_Missense_Mutation_p.E370D|ARFGAP3_ENST00000437119.2_Missense_Mutation_p.E398D	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	442					intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|protein secretion (GO:0009306)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						GGGCCCTGGTCTCATACTAGA	0.502																																					GBM(58;544 1030 21460 27159 48838)	GBM(58;544 1030 21460 27159 48838)	uc003bdd.2		NA																	0				breast(1)	1						c.(1324-1326)GAG>GAC		ADP-ribosylation factor GTPase activating							32.0	30.0	30.0					22																	43203164		2203	4300	6503	SO:0001583	missense	26286				intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding	g.chr22:43203164C>G	AK002083	CCDS14042.1, CCDS46722.1	22q13.2	2009-11-30	2002-08-20	2002-08-23	ENSG00000242247	ENSG00000242247		"""ADP-ribosylation factor GTPase activating proteins"""	661	protein-coding gene	gene with protein product		612439	"""ADP-ribosylation factor GTPase activating protein 1"""	ARFGAP1		10704287, 11172815	Standard	NM_014570		Approved		uc003bdd.2	Q9NP61	OTTHUMG00000150718	ENST00000263245.5:c.1326G>C	22.37:g.43203164C>G	ENSP00000263245:p.Glu442Asp					ARFGAP3_uc010gzf.2_Missense_Mutation_p.E398D	p.E442D	NM_014570	NP_055385	Q9NP61	ARFG3_HUMAN			14	1546	-			442					E9PB03|Q9BSC6|Q9H9J0|Q9NT10|Q9NUP5|Q9Y4V3|Q9Y4V4	Missense_Mutation	SNP	ENST00000263245.5	37	c.1326G>C	CCDS14042.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.97|12.97	2.096593|2.096593	0.36952|0.36952	.|.	.|.	ENSG00000242247|ENSG00000242247	ENST00000453516|ENST00000263245;ENST00000429508;ENST00000437119	.|T;T;T	.|0.10763	.|3.12;2.84;2.94	4.83|4.83	-1.01|-1.01	0.10169|0.10169	.|.	.|0.147363	.|0.49305	.|D	.|0.000159	T|T	0.08846|0.08846	0.0219|0.0219	M|M	0.63208|0.63208	1.945|1.945	0.43457|0.43457	D|D	0.995657|0.995657	.|B;P	.|0.45348	.|0.109;0.856	.|B;B	.|0.32980	.|0.077;0.156	T|T	0.21999|0.21999	-1.0229|-1.0229	5|10	.|0.49607	.|T	.|0.09	-21.9617|-21.9617	9.8926|9.8926	0.41298|0.41298	0.0:0.5866:0.0:0.4134|0.0:0.5866:0.0:0.4134	.|.	.|398;442	.|E9PB03;Q9NP61	.|.;ARFG3_HUMAN	H|D	245|442;370;398	.|ENSP00000263245:E442D;ENSP00000393959:E370D;ENSP00000388791:E398D	.|ENSP00000263245:E442D	D|E	-|-	1|3	0|2	ARFGAP3|ARFGAP3	41533108|41533108	0.901000|0.901000	0.30685|0.30685	0.979000|0.979000	0.43373|0.43373	0.090000|0.090000	0.18270|0.18270	-0.098000|-0.098000	0.11024|0.11024	-0.041000|-0.041000	0.13558|0.13558	-0.312000|-0.312000	0.09012|0.09012	GAC|GAG		0.502	ARFGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319747.2	NM_014570		4	12	0	0	0	0.009096	0	4	12				
SCUBE1	80274	broad.mit.edu	37	22	43687139	43687139	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr22:43687139C>A	ENST00000360835.4	-	4	523	c.397G>T	c.(397-399)Gtc>Ttc	p.V133F	SCUBE1_ENST00000290460.7_Missense_Mutation_p.V133F	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	133	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				ATGGCATTGACGCAGATCTGC	0.527																																							uc003bdt.1		NA																	0				central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5						c.(397-399)GTC>TTC		signal peptide, CUB domain, EGF-like 1							113.0	71.0	85.0					22																	43687139		2203	4300	6503	SO:0001583	missense	80274				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity	g.chr22:43687139C>A		CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.397G>T	22.37:g.43687139C>A	ENSP00000354080:p.Val133Phe					SCUBE1_uc003bdu.1_Missense_Mutation_p.V133F	p.V133F	NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN			4	485	-		all_neural(38;0.0414)|Ovarian(80;0.07)	133			EGF-like 3; calcium-binding (Potential).		Q5R336	Missense_Mutation	SNP	ENST00000360835.4	37	c.397G>T	CCDS14048.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.920666	0.92249	.	.	ENSG00000159307	ENST00000360835;ENST00000434132;ENST00000290460	D;D	0.96716	-4.1;-4.1	4.87	4.87	0.63330	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.97192	0.9082	L	0.49640	1.575	0.80722	D	1	D;D	0.63880	0.983;0.993	P;D	0.66351	0.872;0.943	D	0.97974	1.0345	10	0.87932	D	0	.	18.213	0.89877	0.0:1.0:0.0:0.0	.	133;133	B1AH90;Q8IWY4	.;SCUB1_HUMAN	F	133	ENSP00000354080:V133F;ENSP00000290460:V133F	ENSP00000290460:V133F	V	-	1	0	SCUBE1	42017083	1.000000	0.71417	0.955000	0.39395	0.950000	0.60333	5.773000	0.68898	2.521000	0.84997	0.591000	0.81541	GTC		0.527	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	NM_173050		15	32	1	0	1.50039e-11	0.001882	2.15148e-11	15	32				
UPK3A	7380	broad.mit.edu	37	22	45683165	45683165	+	Silent	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr22:45683165G>C	ENST00000216211.4	+	3	353	c.321G>C	c.(319-321)ctG>ctC	p.L107L	UPK3A_ENST00000396082.2_Intron	NM_006953.3	NP_008884.1	O75631	UPK3A_HUMAN	uroplakin 3A	107					cell morphogenesis (GO:0000902)|epithelial cell differentiation (GO:0030855)|kidney development (GO:0001822)|potassium ion homeostasis (GO:0055075)|sodium ion homeostasis (GO:0055078)|urea transport (GO:0015840)|urinary bladder development (GO:0060157)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CCTTTGACCTGATCCCCTGCA	0.587																																							uc003bfy.2		NA																	0					0						c.(319-321)CTG>CTC		uroplakin 3A precursor							136.0	104.0	115.0					22																	45683165		2203	4300	6503	SO:0001819	synonymous_variant	7380				epithelial cell differentiation	endoplasmic reticulum membrane|integral to membrane		g.chr22:45683165G>C	AB010637	CCDS14064.1, CCDS54539.1	22q13.31	2005-11-14	2003-07-29	2003-07-30	ENSG00000100373	ENSG00000100373			12580	protein-coding gene	gene with protein product		611559	"""uroplakin 3"""	UPK3		9818021	Standard	NM_006953		Approved		uc003bfy.3	O75631	OTTHUMG00000151339	ENST00000216211.4:c.321G>C	22.37:g.45683165G>C						UPK3A_uc010gzy.2_Intron	p.L107L	NM_006953	NP_008884	O75631	UPK3A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)	3	327	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	107			Lumenal (Potential).		B0QY25|O60261|Q32N05|Q5TII6	Silent	SNP	ENST00000216211.4	37	c.321G>C	CCDS14064.1																																																																																				0.587	UPK3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000322276.1	NM_006953		12	44	0	0	0	0.00245	0	12	44				
FBLN1	2192	broad.mit.edu	37	22	45944613	45944613	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr22:45944613G>A	ENST00000327858.6	+	13	1657	c.1562G>A	c.(1561-1563)cGc>cAc	p.R521H	FBLN1_ENST00000348697.2_Missense_Mutation_p.R521H|FBLN1_ENST00000340923.5_Missense_Mutation_p.R521H|FBLN1_ENST00000402984.3_Missense_Mutation_p.R559H|FBLN1_ENST00000262722.7_Missense_Mutation_p.R521H|FBLN1_ENST00000442170.2_Missense_Mutation_p.R521H|FBLN1_ENST00000476366.1_Intron	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1	521	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.			R -> S (in Ref. 6; AAH22497). {ECO:0000305}.	embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CCCAATGGCCGCAACTGCCAA	0.672																																							uc003bgj.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1561-1563)CGC>CAC		fibulin 1 isoform D							51.0	41.0	44.0					22																	45944613		2203	4300	6503	SO:0001583	missense	2192				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr22:45944613G>A		CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"""Fibulins"""	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.1562G>A	22.37:g.45944613G>A	ENSP00000331544:p.Arg521His					FBLN1_uc003bgg.1_Missense_Mutation_p.R521H|FBLN1_uc003bgh.2_Missense_Mutation_p.R521H|FBLN1_uc010gzz.2_Missense_Mutation_p.R559H|FBLN1_uc003bgi.1_Missense_Mutation_p.R521H	p.R521H	NM_006486	NP_006477	P23142	FBLN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	13	1709	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	521	R -> S (in Ref. 6; AAH22497).		EGF-like 8; calcium-binding.		B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Missense_Mutation	SNP	ENST00000327858.6	37	c.1562G>A	CCDS14067.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.472947	0.84640	.	.	ENSG00000077942	ENST00000348697;ENST00000402984;ENST00000262722;ENST00000327858;ENST00000442170;ENST00000340923	D;D;D;D;D;D	0.95980	-2.29;-3.87;-2.29;-2.29;-2.29;-2.29	4.34	4.34	0.51931	EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.96040	0.8710	L	0.35288	1.05	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.997;0.98;0.991	D	0.97089	0.9789	10	0.87932	D	0	.	16.4452	0.83925	0.0:0.0:1.0:0.0	.	559;521;521;521	B1AHL2;P23142;B1AHL4;P23142-4	.;FBLN1_HUMAN;.;.	H	521;559;521;521;521;521	ENSP00000262723:R521H;ENSP00000385521:R559H;ENSP00000262722:R521H;ENSP00000331544:R521H;ENSP00000393812:R521H;ENSP00000342212:R521H	ENSP00000262722:R521H	R	+	2	0	FBLN1	44323277	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	9.163000	0.94750	1.954000	0.56735	0.561000	0.74099	CGC		0.672	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322287.1	NM_006486		3	59	0	0	0	0.000602	0	3	59				
PKDREJ	10343	broad.mit.edu	37	22	46652574	46652574	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr22:46652574C>T	ENST00000253255.5	-	1	6645	c.6646G>A	c.(6646-6648)Gag>Aag	p.E2216K		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	2216					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AACTCAGGCTCATCTTTGGCC	0.478																																							uc003bhh.2		NA																	0				breast(3)|ovary(2)	5						c.(6646-6648)GAG>AAG		receptor for egg jelly-like protein precursor							113.0	95.0	101.0					22																	46652574		2203	4300	6503	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46652574C>T	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.6646G>A	22.37:g.46652574C>T	ENSP00000253255:p.Glu2216Lys						p.E2216K	NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	6646	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	2216			Cytoplasmic (Potential).		B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.6646G>A	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.073466	0.55646	.	.	ENSG00000130943	ENST00000253255	T	0.35973	1.28	5.56	0.917	0.19380	.	0.662162	0.14517	N	0.314723	T	0.21267	0.0512	N	0.19112	0.55	0.09310	N	1	B	0.27498	0.18	B	0.23150	0.044	T	0.14090	-1.0485	10	0.36615	T	0.2	-13.2819	9.8726	0.41185	0.0:0.5137:0.4119:0.0744	.	2216	Q9NTG1	PKDRE_HUMAN	K	2216	ENSP00000253255:E2216K	ENSP00000253255:E2216K	E	-	1	0	PKDREJ	45031238	0.147000	0.22687	0.000000	0.03702	0.213000	0.24496	0.932000	0.28884	0.085000	0.17107	0.557000	0.71058	GAG		0.478	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		14	38	0	0	0	0.003163	0	14	38				
THRB	7068	broad.mit.edu	37	3	24174822	24174822	+	Silent	SNP	C	C	T	rs555044657	byFrequency	TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:24174822C>T	ENST00000356447.4	-	8	1154	c.870G>A	c.(868-870)ttG>ttA	p.L290L	THRB_ENST00000280696.5_Silent_p.L305L|THRB_ENST00000416420.1_Silent_p.L290L|THRB_ENST00000396671.2_Silent_p.L290L	NM_000461.4|NM_001128177.1	NP_000452.2|NP_001121649.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	290	Interaction with NR2F6.|Ligand-binding.				female courtship behavior (GO:0008050)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of female receptivity (GO:0007621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|sensory perception of sound (GO:0007605)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|Type I pneumocyte differentiation (GO:0060509)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	AAAACATAGGCAACTTTTTGG	0.373													C|||	3	0.000599042	0.0	0.0	5008	,	,		19608	0.0		0.0	False		,,,				2504	0.0031				Melanoma(21;896 1043 15021 37958)	Melanoma(21;896 1043 15021 37958)	uc003ccx.3		NA																	0				skin(2)|pancreas(1)	3						c.(868-870)TTG>TTA		thyroid hormone receptor, beta	Levothyroxine(DB00451)|Liothyronine(DB00279)						116.0	108.0	111.0					3																	24174822		2203	4300	6503	SO:0001819	synonymous_variant	7068				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding	g.chr3:24174822C>T		CCDS2641.1	3p24.2	2013-01-16	2011-05-19		ENSG00000151090	ENSG00000151090		"""Nuclear hormone receptors"""	11799	protein-coding gene	gene with protein product	"""avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2"", ""oncogene ERBA2"", ""generalized resistance to thyroid hormone"", ""thyroid hormone receptor beta 1"""	190160	"""thyroid hormone receptor, beta (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2)"", ""pituitary resistance to thyroid hormone"", ""thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian)"""	ERBA2, PRTH		1973914, 8040303	Standard	NM_000461		Approved	THRB1, THRB2, NR1A2, THR1, ERBA-BETA, GRTH	uc003ccy.4	P10828	OTTHUMG00000130478	ENST00000356447.4:c.870G>A	3.37:g.24174822C>T						THRB_uc010hfe.2_Silent_p.L290L|THRB_uc003ccy.3_Silent_p.L290L|THRB_uc003ccz.3_Silent_p.L285L	p.L290L	NM_001128176	NP_001121648	P10828	THB_HUMAN			9	1219	-			290			Ligand-binding.|Interaction with NR2F6.		B3KU79|P37243|Q13986|Q3KP35|Q6WGL2|Q9UD41	Silent	SNP	ENST00000356447.4	37	c.870G>A	CCDS2641.1																																																																																				0.373	THRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252877.3	NM_000461		9	23	0	0	0	0.000978	0	9	23				
EOMES	8320	broad.mit.edu	37	3	27760974	27760974	+	Splice_Site	SNP	T	T	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:27760974T>C	ENST00000295743.4	-	3	1240		c.e3-2		EOMES_ENST00000537516.1_Splice_Site|EOMES_ENST00000461503.1_Splice_Site|EOMES_ENST00000449599.1_Splice_Site			O95936	EOMES_HUMAN	eomesodermin						brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						TTTTGTTGCCTAAGAGAAAAT	0.398																																							uc003cdx.2		NA																	0				ovary(3)|breast(1)	4						c.e3-1		eomesodermin							117.0	112.0	113.0					3																	27760974		2203	4300	6503	SO:0001630	splice_region_variant	8320				CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:27760974T>C	BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"""T-boxes"""	3372	protein-coding gene	gene with protein product	"""T-box brain2"""	604615	"""eomesodermin (Xenopus laevis) homolog"""			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.1037-2A>G	3.37:g.27760974T>C						EOMES_uc003cdy.3_Splice_Site_p.G346_splice|EOMES_uc010hfn.2_Splice_Site_p.G346_splice|EOMES_uc011axc.1_Splice_Site_p.G51_splice	p.G346_splice	NM_005442	NP_005433	O95936	EOMES_HUMAN			3	1037	-								B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	Splice_Site	SNP	ENST00000295743.4	37	c.1037_splice	CCDS2646.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.559679	0.86335	.	.	ENSG00000163508	ENST00000295743;ENST00000449599;ENST00000537516;ENST00000535713	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2009	0.82078	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	EOMES	27735978	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.977000	0.88081	2.235000	0.73313	0.533000	0.62120	.		0.398	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252995.1	NM_005442	Intron	17	22	0	0	0	0.007413	0	17	22				
ACVR2B	93	broad.mit.edu	37	3	38524706	38524706	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:38524706G>T	ENST00000352511.4	+	11	1894	c.1422G>T	c.(1420-1422)gtG>gtT	p.V474V		NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN	activin A receptor, type IIB	474	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|determination of left/right symmetry (GO:0007368)|embryonic foregut morphogenesis (GO:0048617)|gastrulation with mouth forming second (GO:0001702)|heart development (GO:0007507)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm development (GO:0007498)|odontogenesis of dentin-containing tooth (GO:0042475)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|response to glucose (GO:0009749)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|venous blood vessel development (GO:0060841)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		CGGGCTGTGTGGAGGAGCGGG	0.617																																							uc003cif.2		NA																	0				lung(1)	1						c.(1420-1422)GTG>GTT		activin A receptor, type IIB precursor							197.0	169.0	179.0					3																	38524706		2203	4300	6503	SO:0001819	synonymous_variant	93				activin receptor signaling pathway|anterior/posterior pattern formation|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	activin receptor activity|ATP binding|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity	g.chr3:38524706G>T	X77533	CCDS2679.1	3p22	2006-11-06			ENSG00000114739	ENSG00000114739			174	protein-coding gene	gene with protein product		602730				8161782, 9621519	Standard	NM_001106		Approved	ActR-IIB	uc003cif.3	Q13705	OTTHUMG00000131291	ENST00000352511.4:c.1422G>T	3.37:g.38524706G>T						ACVR2B_uc003cig.2_Silent_p.V265V	p.V474V	NM_001106	NP_001097	Q13705	AVR2B_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)	11	1446	+	Medulloblastoma(35;0.163)		474			Cytoplasmic (Potential).|Protein kinase.		Q4VAV0	Silent	SNP	ENST00000352511.4	37	c.1422G>T	CCDS2679.1																																																																																				0.617	ACVR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254059.3	NM_001106		22	59	1	0	9.57634e-11	0.00333	1.3434e-10	22	59				
CX3CR1	1524	broad.mit.edu	37	3	39307287	39307287	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:39307287G>A	ENST00000541347.1	-	2	953	c.714C>T	c.(712-714)atC>atT	p.I238I	CX3CR1_ENST00000358309.3_Silent_p.I270I|CX3CR1_ENST00000399220.2_Silent_p.I238I|CX3CR1_ENST00000542107.1_Silent_p.I238I	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	238					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cerebral cortex cell migration (GO:0021795)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|macrophage chemotaxis (GO:0048246)|microglial cell activation involved in immune response (GO:0002282)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|response to wounding (GO:0009611)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|neuronal cell body membrane (GO:0032809)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-X3-C chemokine receptor activity (GO:0016495)|chemokine receptor activity (GO:0004950)	p.I238I(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		GGAAAAACACGATGACCACCA	0.428																																							uc003cjl.2		NA																	1	Substitution - coding silent(1)		large_intestine(1)	lung(3)	3						c.(712-714)ATC>ATT		chemokine (C-X3-C motif) receptor 1							108.0	115.0	113.0					3																	39307287		1946	4142	6088	SO:0001819	synonymous_variant	1524				cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity	g.chr3:39307287G>A	BC028078	CCDS43069.1, CCDS54571.1	3p21.3	2012-08-08	2002-08-22		ENSG00000168329	ENSG00000168329		"""GPCR / Class A : Chemokine receptors : C-X-3-C motif"""	2558	protein-coding gene	gene with protein product		601470	"""chemokine (C-X3-C) receptor 1"""	GPR13, CMKBRL1		9726990, 7646814	Standard	NM_001171171		Approved	CMKDR1, V28, CCRL1	uc021wwc.1	P49238	OTTHUMG00000156249	ENST00000541347.1:c.714C>T	3.37:g.39307287G>A							p.I238I	NM_001337	NP_001328	P49238	CX3C1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)	2	806	-			238			Helical; Name=6; (Potential).		A0N0N6|B2R5Z4|J3KP17	Silent	SNP	ENST00000541347.1	37	c.714C>T	CCDS43069.1																																																																																				0.428	CX3CR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343613.1	NM_001337		9	25	0	0	0	0.004482	0	9	25				
FYCO1	79443	broad.mit.edu	37	3	46008650	46008650	+	Missense_Mutation	SNP	G	G	A	rs370100722		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:46008650G>A	ENST00000296137.2	-	8	2381	c.2176C>T	c.(2176-2178)Cgg>Tgg	p.R726W	FYCO1_ENST00000535325.1_Missense_Mutation_p.R726W	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	726					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)	p.R726R(1)		NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TCTCTGTGCCGGGCTTCTGCC	0.617																																							uc003cpb.3		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(2176-2178)CGG>TGG		FYVE and coiled-coil domain containing 1		G	TRP/ARG	0,4406		0,0,2203	82.0	86.0	85.0		2176	4.8	1.0	3		85	2,8598	2.2+/-6.3	0,2,4298	no	missense	FYCO1	NM_024513.2	101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	726/1479	46008650	2,13004	2203	4300	6503	SO:0001583	missense	79443				transport	integral to membrane	metal ion binding|protein binding	g.chr3:46008650G>A	AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"""Zinc fingers, FYVE domain containing"""	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.2176C>T	3.37:g.46008650G>A	ENSP00000296137:p.Arg726Trp					FYCO1_uc011bal.1_Missense_Mutation_p.R726W	p.R726W	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)	8	2382	-			726			Potential.		B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	ENST00000296137.2	37	c.2176C>T	CCDS2734.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.736312	0.49045	0.0	2.33E-4	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.22945	1.93;1.94	5.64	4.76	0.60689	.	0.556424	0.18740	N	0.132471	T	0.31734	0.0806	L	0.47716	1.5	0.22081	N	0.999375	D;D	0.67145	0.996;0.996	P;P	0.49999	0.628;0.528	T	0.11179	-1.0598	10	0.48119	T	0.1	-32.1493	13.2911	0.60272	0.0747:0.0:0.9253:0.0	.	726;726	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	W	726	ENSP00000296137:R726W;ENSP00000441178:R726W	ENSP00000296137:R726W	R	-	1	2	FYCO1	45983654	0.995000	0.38212	0.985000	0.45067	0.654000	0.38779	3.001000	0.49488	2.667000	0.90743	0.563000	0.77884	CGG		0.617	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513		3	71	0	0	0	0.009096	0	3	71				
GLYCTK	132158	broad.mit.edu	37	3	52326349	52326349	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:52326349G>T	ENST00000436784.2	+	5	839	c.779G>T	c.(778-780)aGt>aTt	p.S260I	GLYCTK_ENST00000471180.1_Missense_Mutation_p.S133I|GLYCTK_ENST00000473032.1_Intron|GLYCTK_ENST00000477382.1_Missense_Mutation_p.Q201H|GLYCTK_ENST00000354773.4_Missense_Mutation_p.Q201H|GLYCTK-AS1_ENST00000493616.1_RNA|GLYCTK_ENST00000461183.1_Missense_Mutation_p.S176I|MIR135A1_ENST00000385191.1_RNA|GLYCTK_ENST00000305690.8_Missense_Mutation_p.S260I			Q8IVS8	GLCTK_HUMAN	glycerate kinase	260					protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glycerate kinase activity (GO:0008887)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		ACCGTGGCCAGTTCCCACAAT	0.612																																							uc003ddo.2		NA																	0					0						c.(778-780)AGT>ATT		glycerate kinase isoform 1							88.0	78.0	82.0					3																	52326349		2203	4300	6503	SO:0001583	missense	132158				protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding	g.chr3:52326349G>T		CCDS2852.1, CCDS46841.1	3p21.1	2008-01-22			ENSG00000168237	ENSG00000168237	2.7.1.31		24247	protein-coding gene	gene with protein product		610516				16753811	Standard	NM_145262		Approved	HBEBP4, HBEBP2	uc003ddo.3	Q8IVS8	OTTHUMG00000158380	ENST00000436784.2:c.779G>T	3.37:g.52326349G>T	ENSP00000389175:p.Ser260Ile					GLYCTK_uc003ddq.2_Missense_Mutation_p.Q201H|GLYCTK_uc003ddm.2_RNA|GLYCTK_uc003ddn.2_Intron|GLYCTK_uc003ddp.1_Missense_Mutation_p.S260I|GLYCTK_uc003ddr.2_5'UTR	p.S260I	NM_145262	NP_660305	Q8IVS8	GLCTK_HUMAN		BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)	5	875	+			260					Q0P630|Q2EZ43|Q6Y2K6|Q7Z6G5|Q86YR8|Q8TED2|Q8WTY2	Missense_Mutation	SNP	ENST00000436784.2	37	c.779G>T	CCDS2852.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.977386|3.977386	0.74360|0.74360	.|.	.|.	ENSG00000168237|ENSG00000168237	ENST00000354773;ENST00000477382|ENST00000461183;ENST00000305690;ENST00000471180;ENST00000436784;ENST00000411757	T;T|T;T;T;T	0.36340|0.44881	1.26;1.26|0.91;0.91;0.91;0.91	5.64|5.64	3.83|3.83	0.44106|0.44106	.|.	.|0.161850	.|0.64402	.|D	.|0.000003	T|T	0.57184|0.57184	0.2036|0.2036	.|.	.|.	.|.	0.22330|0.22330	N|N	0.999191|0.999191	B|D;B	0.22080|0.59357	0.064|0.985;0.242	B|P;B	0.26693|0.59825	0.072|0.864;0.158	T|T	0.52786|0.52786	-0.8529|-0.8529	8|9	0.87932|0.87932	D|D	0|0	-15.498|-15.498	11.188|11.188	0.48669|0.48669	0.0691:0.1287:0.8022:0.0|0.0691:0.1287:0.8022:0.0	.|.	201|260;260	Q8IVS8-2|Q8IVS8-4;Q8IVS8	.|.;GLCTK_HUMAN	H|I	201|176;260;133;260;194	ENSP00000346825:Q201H;ENSP00000419008:Q201H|ENSP00000417264:S176I;ENSP00000301965:S260I;ENSP00000417526:S133I;ENSP00000389175:S260I	ENSP00000346825:Q201H|ENSP00000301965:S260I	Q|S	+|+	3|2	2|0	GLYCTK|GLYCTK	52301389|52301389	1.000000|1.000000	0.71417|0.71417	0.689000|0.689000	0.30133|0.30133	0.983000|0.983000	0.72400|0.72400	4.103000|4.103000	0.57783|0.57783	0.729000|0.729000	0.32403|0.32403	0.655000|0.655000	0.94253|0.94253	CAG|AGT		0.612	GLYCTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350835.1	NM_145262		15	19	1	0	4.14922e-12	0.004007	6.06079e-12	15	19				
PBRM1	55193	broad.mit.edu	37	3	52623229	52623229	+	Nonsense_Mutation	SNP	G	G	C	rs141067977		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:52623229G>C	ENST00000296302.7	-	18	2823	c.2822C>G	c.(2821-2823)tCa>tGa	p.S941*	PBRM1_ENST00000356770.4_Nonsense_Mutation_p.S909*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.S941*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.S956*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.S941*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.S956*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.S941*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.S941*			Q86U86	PB1_HUMAN	polybromo 1	941					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ATGTAAGCCTGAGAGGCCTGC	0.428			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																		uc003des.2		NA		Rec	yes		3	3p21	55193	Mis|N|F|S|D|O	polybromo 1			E			clear cell renal carcinoma|breast		0				kidney(136)|breast(4)	140						c.(2821-2823)TCA>TGA		polybromo 1 isoform 4							145.0	142.0	143.0					3																	52623229		2203	4300	6503	SO:0001587	stop_gained	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52623229G>C	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2822C>G	3.37:g.52623229G>C	ENSP00000296302:p.Ser941*					PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Nonsense_Mutation_p.S941*|PBRM1_uc003der.2_Nonsense_Mutation_p.S909*|PBRM1_uc003det.2_Nonsense_Mutation_p.S956*|PBRM1_uc003deu.2_Nonsense_Mutation_p.S956*|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Nonsense_Mutation_p.S941*|PBRM1_uc010hmk.1_Nonsense_Mutation_p.S941*|PBRM1_uc003dey.2_Nonsense_Mutation_p.S941*|PBRM1_uc003dez.1_Nonsense_Mutation_p.S940*|PBRM1_uc003dfb.1_Nonsense_Mutation_p.S853*|PBRM1_uc003dfa.1_Nonsense_Mutation_p.S287*	p.S941*	NM_181042	NP_060635	Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	18	2834	-			941					A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37	c.2822C>G		.	.	.	.	.	.	.	.	.	.	G	39	7.873850	0.98537	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.27	5.27	0.74061	.	0.295904	0.33382	N	0.004967	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-30.7323	18.8903	0.92397	0.0:0.0:1.0:0.0	.	.	.	.	X	909;941;941;941;941;941;956;956;940;899	.	ENSP00000296302:S941X	S	-	2	0	PBRM1	52598269	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.749000	0.68704	2.448000	0.82819	0.591000	0.81541	TCA		0.428	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		31	42	0	0	0	0.003755	0	31	42				
PRKCD	5580	broad.mit.edu	37	3	53217201	53217201	+	Silent	SNP	G	G	T	rs200410934		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:53217201G>T	ENST00000394729.2	+	7	964	c.636G>T	c.(634-636)gcG>gcT	p.A212A	PRKCD_ENST00000330452.3_Silent_p.A212A	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	212					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular senescence (GO:0090398)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-10 production (GO:0032613)|interleukin-12 production (GO:0032615)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|mRNA metabolic process (GO:0016071)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of filopodium assembly (GO:0051490)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil activation (GO:0042119)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of glucosylceramide catabolic process (GO:2000753)|positive regulation of phospholipid scramblase activity (GO:1900163)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sphingomyelin catabolic process (GO:2000755)|positive regulation of superoxide anion generation (GO:0032930)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of receptor activity (GO:0010469)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|termination of signal transduction (GO:0023021)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|insulin receptor substrate binding (GO:0043560)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	CTGGCACCGCGGCCAACAGCC	0.612																																							uc003dgl.2		NA																	0				central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9						c.(634-636)GCG>GCT		protein kinase C, delta							37.0	37.0	37.0					3																	53217201		2203	4300	6503	SO:0001819	synonymous_variant	5580				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding	g.chr3:53217201G>T		CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	2.7.11.1		9399	protein-coding gene	gene with protein product		176977				8188219	Standard	NM_006254		Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	ENST00000394729.2:c.636G>T	3.37:g.53217201G>T						PRKCD_uc003dgm.2_Silent_p.A212A|PRKCD_uc010hmt.1_5'Flank	p.A212A	NM_006254	NP_006245	Q05655	KPCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	8	989	+		Ovarian(412;0.0728)	212					B0KZ81|B2R834|Q15144|Q86XJ6	Silent	SNP	ENST00000394729.2	37	c.636G>T	CCDS2870.1																																																																																				0.612	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257818.1			10	27	1	0	4.68919e-08	0.008291	6.0898e-08	10	27				
PTPRG	5793	broad.mit.edu	37	3	61989074	61989074	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:61989074G>T	ENST00000474889.1	+	4	799	c.422G>T	c.(421-423)gGc>gTc	p.G141V	PTPRG_ENST00000295874.10_Missense_Mutation_p.G141V	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	141	Alpha-carbonic anhydrase.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		GGTCTACCTGGCAGATTCAAA	0.483																																							uc003dlb.2		NA																	0				ovary(5)|lung(2)	7						c.(421-423)GGC>GTC		protein tyrosine phosphatase, receptor type, G							108.0	105.0	106.0					3																	61989074		2203	4300	6503	SO:0001583	missense	5793				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr3:61989074G>T	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.422G>T	3.37:g.61989074G>T	ENSP00000418112:p.Gly141Val					PTPRG_uc003dlc.2_Missense_Mutation_p.G141V	p.G141V	NM_002841	NP_002832	P23470	PTPRG_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	4	1141	+			141			Extracellular (Potential).|Alpha-carbonic anhydrase.		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	37	c.422G>T	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.993651	0.93167	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.68765	-0.35;-0.35	6.16	6.16	0.99307	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.85682	D	0.000000	D	0.83450	0.5257	M	0.76938	2.355	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81632	-0.0845	10	0.48119	T	0.1	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	141;141	P23470-2;P23470	.;PTPRG_HUMAN	V	141	ENSP00000418112:G141V;ENSP00000295874:G141V	ENSP00000295874:G141V	G	+	2	0	PTPRG	61964114	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.405000	0.97313	2.937000	0.99478	0.650000	0.86243	GGC		0.483	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		18	43	1	0	1.01871e-10	0.008871	1.42505e-10	18	43				
PTPRG	5793	broad.mit.edu	37	3	62267340	62267340	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:62267340G>A	ENST00000474889.1	+	27	4245	c.3868G>A	c.(3868-3870)Gaa>Aaa	p.E1290K	PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000466893.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.E1261K|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1290	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.E1290K(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CCTCTCTAATGAAGAACAAAT	0.438																																							uc003dlb.2		NA																	1	Substitution - Missense(1)		kidney(1)	ovary(5)|lung(2)	7						c.(3868-3870)GAA>AAA		protein tyrosine phosphatase, receptor type, G							157.0	139.0	145.0					3																	62267340		2203	4300	6503	SO:0001583	missense	5793				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr3:62267340G>A	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.3868G>A	3.37:g.62267340G>A	ENSP00000418112:p.Glu1290Lys					PTPRG_uc003dlc.2_Missense_Mutation_p.E1261K|PTPRG_uc011bfi.1_Missense_Mutation_p.E536K|uc010hno.2_Intron|uc003dld.3_Intron|uc010hnp.2_Intron|uc003dle.3_Intron	p.E1290K	NM_002841	NP_002832	P23470	PTPRG_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	27	4587	+			1290			Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	37	c.3868G>A	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.494507	0.85069	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	D;D	0.83506	-1.73;-1.73	5.1	5.1	0.69264	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	D	0.91178	0.7221	M	0.77313	2.365	0.80722	D	1	P;P;D	0.69078	0.837;0.812;0.997	B;P;D	0.73380	0.434;0.622;0.98	D	0.91941	0.5563	10	0.72032	D	0.01	.	18.6954	0.91599	0.0:0.0:1.0:0.0	.	536;1261;1290	B7Z3T1;P23470-2;P23470	.;.;PTPRG_HUMAN	K	1290;1261	ENSP00000418112:E1290K;ENSP00000295874:E1261K	ENSP00000295874:E1261K	E	+	1	0	PTPRG	62242380	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.611000	0.98342	2.642000	0.89623	0.655000	0.94253	GAA		0.438	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		26	44	0	0	0	0.002836	0	26	44				
OR5K3	403277	broad.mit.edu	37	3	98110437	98110437	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:98110437C>T	ENST00000383695.1	+	1	928	c.928C>T	c.(928-930)Cac>Tac	p.H310Y	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	310						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						AAAATTTTGTCACATTCTGAA	0.269																																							uc011bgw.1		NA																	0					0						c.(928-930)CAC>TAC		olfactory receptor, family 5, subfamily K,							36.0	41.0	40.0					3																	98110437		2113	4215	6328	SO:0001583	missense	403277				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98110437C>T		CCDS33803.1	3q11.2	2013-09-23			ENSG00000206536	ENSG00000206536		"""GPCR / Class A : Olfactory receptors"""	31290	protein-coding gene	gene with protein product							Standard	NM_001005516		Approved		uc011bgw.2	A6NET4	OTTHUMG00000160077	ENST00000383695.1:c.928C>T	3.37:g.98110437C>T	ENSP00000373194:p.His310Tyr						p.H310Y	NM_001005516	NP_001005516	A6NET4	OR5K3_HUMAN			1	928	+			310			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000383695.1	37	c.928C>T	CCDS33803.1	.	.	.	.	.	.	.	.	.	.	A	10.71	1.425499	0.25639	.	.	ENSG00000206536	ENST00000383695	T	0.36699	1.24	4.88	2.3	0.28687	.	.	.	.	.	T	0.16342	0.0393	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31888	-0.9927	9	0.06625	T	0.88	0.3162	2.0233	0.03513	0.4424:0.3157:0.0892:0.1527	.	310	A6NET4	OR5K3_HUMAN	Y	310	ENSP00000373194:H310Y	ENSP00000373194:H310Y	H	+	1	0	OR5K3	99593127	0.000000	0.05858	0.001000	0.08648	0.154000	0.21943	-0.221000	0.09202	0.293000	0.22520	-0.320000	0.08662	CAC		0.269	OR5K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359110.1			25	54	0	0	0	0.004656	0	25	54				
GPR15	2838	broad.mit.edu	37	3	98251507	98251507	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:98251507C>A	ENST00000284311.3	+	1	765	c.630C>A	c.(628-630)agC>agA	p.S210R		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	210					G-protein coupled receptor signaling pathway (GO:0007186)|T cell migration (GO:0072678)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		CTTTGTTGAGCATTGTGACCT	0.408																																							uc011bgy.1		NA																	0				ovary(1)	1						c.(628-630)AGC>AGA		G protein-coupled receptor 15							164.0	153.0	157.0					3																	98251507		2203	4300	6503	SO:0001583	missense	2838					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:98251507C>A		CCDS2931.1	3q11.2-q13.1	2014-01-30			ENSG00000154165	ENSG00000154165		"""GPCR / Class A : Orphans"""	4469	protein-coding gene	gene with protein product		601166				8838812	Standard	NM_005290		Approved		uc011bgy.3	P49685	OTTHUMG00000160017	ENST00000284311.3:c.630C>A	3.37:g.98251507C>A	ENSP00000284311:p.Ser210Arg						p.S210R	NM_005290	NP_005281	P49685	GPR15_HUMAN		Lung(72;0.246)	1	630	+		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)	210			Helical; Name=5; (Potential).		Q3MIL4|Q6ISN6	Missense_Mutation	SNP	ENST00000284311.3	37	c.630C>A	CCDS2931.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.040912	0.55003	.	.	ENSG00000154165	ENST00000284311	T	0.37411	1.2	4.92	4.04	0.47022	GPCR, rhodopsin-like superfamily (1);	0.093147	0.46442	D	0.000297	T	0.49253	0.1546	L	0.57536	1.79	0.41006	D	0.984965	D	0.71674	0.998	D	0.68353	0.957	T	0.51663	-0.8677	10	0.62326	D	0.03	-14.1128	6.2283	0.20720	0.184:0.7225:0.0:0.0935	.	210	P49685	GPR15_HUMAN	R	210	ENSP00000284311:S210R	ENSP00000284311:S210R	S	+	3	2	GPR15	99734197	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.507000	0.35758	1.438000	0.47492	0.655000	0.94253	AGC		0.408	GPR15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358907.1			19	62	1	0	2.70639e-06	0.002299	3.26922e-06	19	62				
CCDC54	84692	broad.mit.edu	37	3	107097331	107097331	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:107097331C>A	ENST00000261058.1	+	1	1144	c.897C>A	c.(895-897)ccC>ccA	p.P299P		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	299										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						TCACTGGGCCCATTTTGAGCT	0.418																																							uc003dwi.1		NA																	0					0						c.(895-897)CCC>CCA		coiled-coil domain containing 54							87.0	91.0	90.0					3																	107097331		2196	4294	6490	SO:0001819	synonymous_variant	84692							g.chr3:107097331C>A	AF367469	CCDS2949.1	3q13.12	2013-10-11			ENSG00000138483	ENSG00000138483			30703	protein-coding gene	gene with protein product	"""sperm protein 17"""					15257753	Standard	NM_032600		Approved	NYD-SP17, FLJ25362, SP17	uc003dwi.1	Q8NEL0	OTTHUMG00000159169	ENST00000261058.1:c.897C>A	3.37:g.107097331C>A							p.P299P	NM_032600	NP_115989	Q8NEL0	CCD54_HUMAN			1	1144	+			299					Q96A43	Silent	SNP	ENST00000261058.1	37	c.897C>A	CCDS2949.1																																																																																				0.418	CCDC54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353651.1	NM_032600		13	30	1	0	2.23348e-06	0.004007	2.71339e-06	13	30				
DZIP3	9666	broad.mit.edu	37	3	108394644	108394644	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:108394644C>G	ENST00000361582.3	+	25	2935	c.2705C>G	c.(2704-2706)tCa>tGa	p.S902*	DZIP3_ENST00000463306.1_Nonsense_Mutation_p.S902*	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	902					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						AACCTAGAATCACTTCAATTA	0.378																																							uc003dxd.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2704-2706)TCA>TGA		DAZ interacting protein 3, zinc finger							87.0	82.0	84.0					3																	108394644		2203	4300	6503	SO:0001587	stop_gained	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108394644C>G	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.2705C>G	3.37:g.108394644C>G	ENSP00000355028:p.Ser902*					DZIP3_uc003dxf.1_Nonsense_Mutation_p.S902*|DZIP3_uc011bhm.1_Nonsense_Mutation_p.S353*	p.S902*	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN			25	3127	+			902					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Nonsense_Mutation	SNP	ENST00000361582.3	37	c.2705C>G	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	C	40	8.090980	0.98648	.	.	ENSG00000198919	ENST00000361582;ENST00000463306	.	.	.	4.93	4.93	0.64822	.	0.000000	0.41823	D	0.000814	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-10.7741	13.492	0.61402	0.0:1.0:0.0:0.0	.	.	.	.	X	902	.	ENSP00000355028:S902X	S	+	2	0	DZIP3	109877334	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.343000	0.52167	2.547000	0.85894	0.491000	0.48974	TCA		0.378	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		8	23	0	0	0	0.004482	0	8	23				
SLC9C1	285335	broad.mit.edu	37	3	111981885	111981885	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:111981885C>A	ENST00000305815.5	-	10	1335	c.1083G>T	c.(1081-1083)tgG>tgT	p.W361C	SLC9C1_ENST00000487372.1_Missense_Mutation_p.W313C	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	361					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										ATATCCAGCGCCAACTGAACT	0.368																																							uc003dyu.2		NA																	0				ovary(3)|breast(2)	5						c.(1081-1083)TGG>TGT		sperm-specific sodium proton exchanger							104.0	101.0	102.0					3																	111981885		2203	4300	6503	SO:0001583	missense	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:111981885C>A	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.1083G>T	3.37:g.111981885C>A	ENSP00000306627:p.Trp361Cys					SLC9A10_uc011bhu.1_Intron|SLC9A10_uc010hqc.2_Missense_Mutation_p.W313C	p.W361C	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN			10	1305	-			361					Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	c.1083G>T	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.194630	0.58017	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	T;T	0.16743	2.32;2.47	5.78	5.78	0.91487	Cation/H+ exchanger (1);	0.000000	0.56097	D	0.000040	T	0.40297	0.1111	L	0.61218	1.895	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.06607	-1.0817	10	0.62326	D	0.03	-14.6049	15.4909	0.75605	0.0:1.0:0.0:0.0	.	313;361	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	C	361;313	ENSP00000306627:W361C;ENSP00000420688:W313C	ENSP00000306627:W361C	W	-	3	0	SLC9A10	113464575	1.000000	0.71417	1.000000	0.80357	0.627000	0.37826	3.919000	0.56439	2.716000	0.92895	0.543000	0.68304	TGG		0.368	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		15	50	1	0	2.35188e-11	0.006122	3.34985e-11	15	50				
CD200R1	131450	broad.mit.edu	37	3	112650004	112650004	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:112650004A>G	ENST00000471858.1	-	2	314	c.82T>C	c.(82-84)Tgt>Cgt	p.C28R	CD200R1_ENST00000295863.4_Intron|CD200R1_ENST00000440122.2_Missense_Mutation_p.C51R|CD200R1_ENST00000308611.3_Missense_Mutation_p.C51R|CD200R1_ENST00000490004.1_Missense_Mutation_p.C28R	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	28					regulation of immune response (GO:0050776)|viral process (GO:0016032)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						TCATCCATACATAAACTGCTT	0.373																																							uc003dzk.1		NA																	0				ovary(2)|pancreas(1)	3						c.(82-84)TGT>CGT		CD200 receptor 1 isoform d							110.0	105.0	107.0					3																	112650004		2203	4300	6503	SO:0001583	missense	131450				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity	g.chr3:112650004A>G	AK126349	CCDS2969.1, CCDS2970.1, CCDS46889.1, CCDS54623.1	3q13	2014-05-15	2004-08-31	2004-09-01	ENSG00000163606	ENSG00000163606		"""Immunoglobulin superfamily / C2-set domain containing"""	24235	protein-coding gene	gene with protein product		607546	"""MOX2 receptor"""	MOX2R		10981966, 11133863	Standard	NM_138806		Approved	OX2R, HCRTR2, CD200R	uc003dzj.1	Q8TD46	OTTHUMG00000159298	ENST00000471858.1:c.82T>C	3.37:g.112650004A>G	ENSP00000418928:p.Cys28Arg					CD200R1_uc003dzj.1_Missense_Mutation_p.C51R|CD200R1_uc011bhx.1_Intron|CD200R1_uc003dzl.1_Missense_Mutation_p.C51R|CD200R1_uc003dzm.1_Missense_Mutation_p.C28R	p.C28R	NM_170780	NP_740750	Q8TD46	MO2R1_HUMAN			2	315	-			28					B3KWZ9|E9PCM9|Q52LJ7|Q6IS95|Q6UW94|Q6WHB8|Q8TD44|Q8TD45|Q8TD52	Missense_Mutation	SNP	ENST00000471858.1	37	c.82T>C	CCDS2970.1	.	.	.	.	.	.	.	.	.	.	A	6.280	0.419826	0.11928	.	.	ENSG00000163606	ENST00000471858;ENST00000308611;ENST00000440122;ENST00000490004	T;T;T;T	0.23348	2.48;3.06;3.06;1.91	3.94	-2.84	0.05751	.	1.634680	0.03738	N	0.254494	T	0.19248	0.0462	L	0.43152	1.355	0.09310	N	1	B;B;B;B	0.11235	0.004;0.003;0.001;0.001	B;B;B;B	0.10450	0.005;0.003;0.001;0.002	T	0.29243	-1.0018	10	0.56958	D	0.05	.	0.9935	0.01462	0.3543:0.1674:0.3159:0.1625	.	28;51;28;51	Q8TD46-3;Q8TD46-2;Q8TD46;Q8TD46-4	.;.;MO2R1_HUMAN;.	R	28;51;51;28	ENSP00000418928:C28R;ENSP00000311035:C51R;ENSP00000405733:C51R;ENSP00000418801:C28R	ENSP00000311035:C51R	C	-	1	0	CD200R1	114132694	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.045000	0.12003	-0.526000	0.06383	-1.910000	0.00522	TGT		0.373	CD200R1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354467.1	NM_138806		7	44	0	0	0	0.00308	0	7	44				
ATP6V1A	523	broad.mit.edu	37	3	113524372	113524373	+	Splice_Site	DNP	GG	GG	TT			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:113524372_113524373GG>TT	ENST00000273398.3	+	14	1869	c.1761_1761GG>TT	c.(1759-1761)aaGG>aaTTg	p.K587N	ATP6V1A_ENST00000538620.1_Splice_Site_p.K554N|ATP6V1A_ENST00000461496.1_3'UTR	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	587					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	ATP binding (GO:0005524)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Alendronate(DB00630)|Etidronic acid(DB01077)|Tiludronate(DB01133)	TGAAATTCAAGGTATATTTTGT	0.376																																							uc003eao.2		NA																	0				ovary(2)|skin(1)	3						c.e14+1		ATPase, H+ transporting, lysosomal V1 subunit A																																				SO:0001630	splice_region_variant	523				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr3:113524372_113524373GG>TT	L09235	CCDS2976.1	3q13.31	2010-04-21	2002-08-29	2003-04-25	ENSG00000114573	ENSG00000114573	3.6.3.14	"""ATPases / V-type"""	851	protein-coding gene	gene with protein product		607027	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha polypeptide, 70kD, isoform 1"""	VPP2, ATP6A1, ATP6V1A1		8463241	Standard	NM_001690		Approved	Vma1, VA68	uc003eao.3	P38606	OTTHUMG00000159295	Exception_encountered	3.37:g.113524372_113524373delinsTT						ATP6V1A_uc011bik.1_Splice_Site_p.K554_splice	p.K587_splice	NM_001690	NP_001681	P38606	VATA_HUMAN			14	1827	+								B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Splice_Site	DNP	ENST00000273398.3	37	c.1761_splice	CCDS2976.1																																																																																				0.376	ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354457.1	NM_001690	Missense_Mutation	7	33	0	0	0	0.004672	0	7	33				
GPR156	165829	broad.mit.edu	37	3	119905592	119905592	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:119905592G>A	ENST00000464295.1	-	6	958	c.513C>T	c.(511-513)gcC>gcT	p.A171A	GPR156_ENST00000461057.1_Silent_p.A171A|GPR156_ENST00000315843.3_Silent_p.A171A			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	171						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		CCATCAACAGGGCTGCCACCA	0.512																																							uc011bjf.1		NA																	0				ovary(1)|skin(1)	2						c.(511-513)GCC>GCT		G protein-coupled receptor 156							109.0	110.0	109.0					3																	119905592		2203	4300	6503	SO:0001819	synonymous_variant	165829					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr3:119905592G>A	AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"""GPCR / Class C : Orphans"""	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.513C>T	3.37:g.119905592G>A						GPR156_uc011bjg.1_Silent_p.A171A	p.A171A	NM_153002	NP_694547	Q8NFN8	GP156_HUMAN		GBM - Glioblastoma multiforme(114;0.19)	5	513	-			171			Helical; (Potential).		B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Silent	SNP	ENST00000464295.1	37	c.513C>T	CCDS2997.1																																																																																				0.512	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355139.1	NM_153002		42	115	0	0	0	0.00361	0	42	115				
POLQ	10721	broad.mit.edu	37	3	121206971	121206971	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:121206971G>C	ENST00000264233.5	-	16	4935	c.4807C>G	c.(4807-4809)Caa>Gaa	p.Q1603E		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1603					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TGATCACCTTGGTGGTGCTCA	0.398								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	Pancreas(152;907 1925 26081 31236 36904)	uc003eee.3		NA																	0				ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(4807-4809)CAA>GAA	DNA_polymerases_(catalytic_subunits)	DNA polymerase theta							200.0	194.0	196.0					3																	121206971		2203	4300	6503	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121206971G>C	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.4807C>G	3.37:g.121206971G>C	ENSP00000264233:p.Gln1603Glu					POLQ_uc003eed.2_Missense_Mutation_p.Q775E	p.Q1603E	NM_199420	NP_955452	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	16	4936	-			1603					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.4807C>G	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	G	1.212	-0.629477	0.03610	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.46451	0.87	6.17	3.01	0.34805	.	1.182500	0.05846	N	0.620243	T	0.23649	0.0572	N	0.19112	0.55	0.09310	N	1	B;B	0.32467	0.255;0.372	B;B	0.24394	0.026;0.053	T	0.06197	-1.0840	10	0.02654	T	1	.	9.2815	0.37731	0.0:0.115:0.6176:0.2674	.	1603;775	O75417;O75417-2	DPOLQ_HUMAN;.	E	1226;1603;1739	ENSP00000264233:Q1603E	ENSP00000264233:Q1603E	Q	-	1	0	POLQ	122689661	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	0.694000	0.25512	0.904000	0.36572	0.655000	0.94253	CAA		0.398	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		58	184	0	0	0	0.00361	0	58	184				
PARP15	165631	broad.mit.edu	37	3	122354909	122354909	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:122354909C>G	ENST00000464300.2	+	12	2065	c.1999C>G	c.(1999-2001)Cag>Gag	p.Q667E	PARP15_ENST00000493645.1_Missense_Mutation_p.Q364E|PARP15_ENST00000483793.1_Missense_Mutation_p.Q472E|PARP15_ENST00000310366.4_Missense_Mutation_p.Q433E	NM_001113523.1	NP_001106995.1	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	667	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		CTTTGATAATCAGGCTTACCC	0.368																																							uc003efm.2		NA																	0				lung(3)|upper_aerodigestive_tract(1)|ovary(1)	5						c.(1999-2001)CAG>GAG		poly (ADP-ribose) polymerase family, member 15							83.0	74.0	77.0					3																	122354909		2203	4300	6503	SO:0001583	missense	165631				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity	g.chr3:122354909C>G	AK097916	CCDS3016.1, CCDS46893.1	3q21	2010-02-16			ENSG00000173200	ENSG00000173200		"""Poly (ADP-ribose) polymerases"""	26876	protein-coding gene	gene with protein product		612066				15273990	Standard	NM_001113523		Approved	FLJ40597, pART7	uc003efm.2	Q460N3	OTTHUMG00000159523	ENST00000464300.2:c.1999C>G	3.37:g.122354909C>G	ENSP00000417214:p.Gln667Glu					PARP15_uc003efn.2_Missense_Mutation_p.Q472E|PARP15_uc003efo.1_Missense_Mutation_p.Q414E|PARP15_uc003efp.1_Missense_Mutation_p.Q433E|PARP15_uc011bjt.1_Missense_Mutation_p.Q364E	p.Q667E	NM_001113523	NP_001106995	Q460N3	PAR15_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	12	2065	+			645			PARP catalytic.		J3KR47|Q8N1K3	Missense_Mutation	SNP	ENST00000464300.2	37	c.1999C>G	CCDS46893.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.640969	0.67244	.	.	ENSG00000173200	ENST00000464300;ENST00000483793;ENST00000542823;ENST00000310366;ENST00000493645	T;T;T;T	0.20881	2.04;2.04;2.04;2.04	3.8	3.8	0.43715	Poly(ADP-ribose) polymerase, catalytic domain (2);	.	.	.	.	T	0.49592	0.1566	M	0.90650	3.135	0.58432	D	0.999999	P;D;D;D;P	0.67145	0.951;0.974;0.991;0.996;0.951	P;P;P;P;P	0.61533	0.807;0.634;0.594;0.89;0.737	T	0.63730	-0.6571	9	0.87932	D	0	.	14.3978	0.67022	0.0:1.0:0.0:0.0	.	364;433;414;472;645	B7ZL48;Q460N3-2;F5H8I1;C9J7L3;Q460N3	.;.;.;.;PAR15_HUMAN	E	667;472;414;433;364	ENSP00000417214:Q667E;ENSP00000417785:Q472E;ENSP00000308436:Q433E;ENSP00000419488:Q364E	ENSP00000308436:Q433E	Q	+	1	0	PARP15	123837599	1.000000	0.71417	0.152000	0.22495	0.922000	0.55478	5.389000	0.66255	1.953000	0.56701	0.650000	0.86243	CAG		0.368	PARP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355964.2	NM_152615		9	30	0	0	0	0.008291	0	9	30				
PARP14	54625	broad.mit.edu	37	3	122446803	122446803	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:122446803G>A	ENST00000474629.2	+	16	5352	c.5086G>A	c.(5086-5088)Ggc>Agc	p.G1696S		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1696	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				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)		CAATCGAAATGGCTTTAACCG	0.502																																							uc003efq.3		NA																	0				ovary(2)|breast(2)|lung(1)|pancreas(1)	6						c.(5086-5088)GGC>AGC		poly (ADP-ribose) polymerase family, member 14							59.0	59.0	59.0					3																	122446803		2013	4181	6194	SO:0001583	missense	54625				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	g.chr3:122446803G>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.5086G>A	3.37:g.122446803G>A	ENSP00000418194:p.Gly1696Ser					PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Missense_Mutation_p.G1413S	p.G1696S	NM_017554	NP_060024	Q460N5	PAR14_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	16	5145	+			1696			PARP catalytic.		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	ENST00000474629.2	37	c.5086G>A	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	G	33	5.283242	0.95489	.	.	ENSG00000173193	ENST00000474629;ENST00000398162;ENST00000398157	T	0.57752	0.38	5.63	5.63	0.86233	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.000000	0.64402	D	0.000002	T	0.80003	0.4544	M	0.92507	3.315	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84423	0.0572	10	0.72032	D	0.01	.	18.2351	0.89947	0.0:0.0:1.0:0.0	.	1696	Q460N5	PAR14_HUMAN	S	1696;1615;692	ENSP00000418194:G1696S	ENSP00000381224:G692S	G	+	1	0	PARP14	123929493	1.000000	0.71417	0.964000	0.40570	0.637000	0.38172	9.741000	0.98843	2.648000	0.89879	0.655000	0.94253	GGC		0.502	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		8	20	0	0	0	0.006214	0	8	20				
ALDH1L1	10840	broad.mit.edu	37	3	125877422	125877423	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:125877422_125877423CC>AA	ENST00000393434.2	-	3	536_537	c.187_188GG>TT	c.(187-189)GGa>TTa	p.G63L	ALDH1L1_ENST00000273450.3_Missense_Mutation_p.G73L|ALDH1L1_ENST00000413612.1_5'Flank|U1_ENST00000606575.1_RNA|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.G63L|ALDH1L1_ENST00000455064.2_Intron|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.G63L|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.G63L	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	63	GART.			G -> A (in Ref. 1; AAC35000). {ECO:0000305}.	10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CAAAGCCTGTCCTTTTGCACGC	0.55																																							uc003eim.1		NA																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(187-189)GGA>TTA		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)																																			SO:0001583	missense	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125877422_125877423CC>AA	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.187_188delinsAA	3.37:g.125877422_125877423delinsAA	ENSP00000377083:p.Gly63Leu					ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Missense_Mutation_p.G63L|ALDH1L1_uc003eio.2_5'Flank|ALDH1L1_uc010hsf.1_Missense_Mutation_p.G89L|ALDH1L1_uc003eip.1_5'UTR|ALDH1L1_uc011bkj.1_Intron	p.G63L	NM_012190	NP_036322	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	3	377_378	-			63	G -> A (in Ref. 1; AAC35000).		GART.		B4DG36|E9PBX3|Q68CS1	Missense_Mutation	DNP	ENST00000393434.2	37	c.187_188GG>TT	CCDS3034.1																																																																																				0.550	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		28	73	0	0	0	0.004672	0	28	73				
DNAJB8	165721	broad.mit.edu	37	3	128181664	128181664	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:128181664G>T	ENST00000469083.1	-	2	2982	c.425C>A	c.(424-426)cCg>cAg	p.P142Q	DNAJB8-AS1_ENST00000471626.1_RNA|DNAJB8_ENST00000319153.3_Missense_Mutation_p.P142Q			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	142					chaperone-mediated protein folding (GO:0061077)|negative regulation of inclusion body assembly (GO:0090084)	cytosol (GO:0005829)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|protein binding involved in protein folding (GO:0044183)|unfolded protein binding (GO:0051082)			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		CATGAAGGCCGGAAATTCTCC	0.612																																							uc003ekk.1		NA																	0					0						c.(424-426)CCG>CAG		DnaJ homolog, subfamily B, member 8							38.0	44.0	42.0					3																	128181664		2203	4300	6503	SO:0001583	missense	165721				protein folding		heat shock protein binding|unfolded protein binding	g.chr3:128181664G>T		CCDS3048.1	3q21.3	2014-01-21			ENSG00000179407	ENSG00000179407		"""Heat shock proteins / DNAJ (HSP40)"""	23699	protein-coding gene	gene with protein product		611337					Standard	NM_153330		Approved	MGC33884, CT156	uc003ekk.2	Q8NHS0	OTTHUMG00000159690	ENST00000469083.1:c.425C>A	3.37:g.128181664G>T	ENSP00000417418:p.Pro142Gln					uc003ekl.1_5'Flank	p.P142Q	NM_153330	NP_699161	Q8NHS0	DNJB8_HUMAN		GBM - Glioblastoma multiforme(114;0.177)	3	2086	-			142					B3KWV7	Missense_Mutation	SNP	ENST00000469083.1	37	c.425C>A	CCDS3048.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.249795	0.59212	.	.	ENSG00000179407	ENST00000469083;ENST00000319153	T;T	0.50548	0.74;0.74	4.75	4.75	0.60458	.	0.179158	0.49305	D	0.000153	T	0.70613	0.3244	M	0.87038	2.855	0.58432	D	0.999999	D	0.76494	0.999	D	0.66716	0.946	T	0.75855	-0.3170	10	0.52906	T	0.07	.	14.6674	0.68918	0.0:0.0:1.0:0.0	.	142	Q8NHS0	DNJB8_HUMAN	Q	142	ENSP00000417418:P142Q;ENSP00000316053:P142Q	ENSP00000316053:P142Q	P	-	2	0	DNAJB8	129664354	1.000000	0.71417	0.905000	0.35620	0.271000	0.26615	6.079000	0.71291	2.182000	0.69389	0.561000	0.74099	CCG		0.612	DNAJB8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356933.1	NM_153330		6	17	1	0	2.7689e-08	0.001984	3.62443e-08	6	17				
EFCAB12	90288	broad.mit.edu	37	3	129140221	129140221	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:129140221T>A	ENST00000505956.1	-	2	637	c.475A>T	c.(475-477)Agg>Tgg	p.R159W	EFCAB12_ENST00000326085.3_Missense_Mutation_p.R159W	NM_207307.1	NP_997190.1	Q6NXP0	EFC12_HUMAN	EF-hand calcium binding domain 12	159							calcium ion binding (GO:0005509)										CTGGTGGTCCTGGTAGTTGCC	0.537																																							uc003emg.2		NA																	0					NA						c.(475-477)AGG>TGG		hypothetical protein LOC90288							71.0	71.0	71.0					3																	129140221		2076	4211	6287	SO:0001583	missense	0							g.chr3:129140221T>A	AK096099	CCDS54638.1	3q21.3	2013-01-10	2012-07-20	2012-07-20	ENSG00000172771	ENSG00000172771		"""EF-hand domain containing"""	28061	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 25"""	C3orf25			Standard	NM_207307		Approved		uc003emg.3	Q6NXP0	OTTHUMG00000159464	ENST00000505956.1:c.475A>T	3.37:g.129140221T>A	ENSP00000420854:p.Arg159Trp						p.R159W	NM_207307	NP_997190					2	638	-								Q69YX4	Missense_Mutation	SNP	ENST00000505956.1	37	c.475A>T	CCDS54638.1	.	.	.	.	.	.	.	.	.	.	T	14.32	2.499247	0.44455	.	.	ENSG00000172771	ENST00000505956;ENST00000326085	T;T	0.15017	2.46;2.46	3.85	-0.512	0.11966	.	1.269890	0.05225	N	0.509208	T	0.21347	0.0514	N	0.19112	0.55	0.09310	N	1	D	0.65815	0.995	D	0.64321	0.924	T	0.18650	-1.0330	10	0.72032	D	0.01	-6.0192	3.3893	0.07283	0.0:0.2927:0.2088:0.4985	.	159	Q6NXP0	CC025_HUMAN	W	159	ENSP00000420854:R159W;ENSP00000324241:R159W	ENSP00000324241:R159W	R	-	1	2	C3orf25	130622911	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.783000	0.04638	-0.077000	0.12752	0.533000	0.62120	AGG		0.537	EFCAB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355530.1	NM_207307		6	16	0	0	0	0.001168	0	6	16				
COL6A6	131873	broad.mit.edu	37	3	130285953	130285953	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:130285953C>A	ENST00000358511.6	+	4	1721	c.1690C>A	c.(1690-1692)Cac>Aac	p.H564N	COL6A6_ENST00000453409.2_Missense_Mutation_p.H564N	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	564	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GAGAGAAGAGCACATCCGAGT	0.473																																							uc010htl.2		NA																	0				ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(1690-1692)CAC>AAC		collagen type VI alpha 6 precursor							124.0	125.0	124.0					3																	130285953		1979	4173	6152	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130285953C>A	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.1690C>A	3.37:g.130285953C>A	ENSP00000351310:p.His564Asn						p.H564N	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			4	1721	+			564			VWFA 3.|Nonhelical region.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.1690C>A	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	C	1.039	-0.679425	0.03353	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.75589	-0.95;-0.95	5.23	0.273	0.15650	von Willebrand factor, type A (3);	0.615724	0.14991	N	0.286696	T	0.34221	0.0890	N	0.00885	-1.115	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.30446	-0.9978	10	0.15066	T	0.55	.	2.4537	0.04524	0.4078:0.2893:0.2098:0.0932	.	564	A6NMZ7	CO6A6_HUMAN	N	564	ENSP00000351310:H564N;ENSP00000399236:H564N	ENSP00000351310:H564N	H	+	1	0	COL6A6	131768643	0.000000	0.05858	0.005000	0.12908	0.801000	0.45260	0.425000	0.21346	0.395000	0.25257	0.555000	0.69702	CAC		0.473	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		33	99	1	0	5.71845e-15	0.005524	8.82089e-15	33	99				
COL6A6	131873	broad.mit.edu	37	3	130293197	130293197	+	Silent	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:130293197G>C	ENST00000358511.6	+	7	3406	c.3375G>C	c.(3373-3375)ctG>ctC	p.L1125L	COL6A6_ENST00000453409.2_Silent_p.L1125L	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1125	Nonhelical region.|VWFA 6. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CGGAAGCCCTGAGACACAGAG	0.567																																							uc010htl.2		NA																	0				ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(3373-3375)CTG>CTC		collagen type VI alpha 6 precursor							78.0	87.0	84.0					3																	130293197		2018	4180	6198	SO:0001819	synonymous_variant	131873				axon guidance|cell adhesion	collagen		g.chr3:130293197G>C	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.3375G>C	3.37:g.130293197G>C							p.L1125L	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			7	3406	+			1125			Nonhelical region.|VWFA 6.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Silent	SNP	ENST00000358511.6	37	c.3375G>C	CCDS46911.1																																																																																				0.567	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		18	29	0	0	0	0.00278	0	18	29				
COL6A6	131873	broad.mit.edu	37	3	130380837	130380837	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:130380837C>T	ENST00000358511.6	+	34	6218	c.6187C>T	c.(6187-6189)Cat>Tat	p.H2063Y	COL6A6_ENST00000453409.2_Missense_Mutation_p.H2063Y	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	2063	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TTTTATTGGTCATGCCTTACA	0.413																																							uc010htl.2		NA																	0				ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(6187-6189)CAT>TAT		collagen type VI alpha 6 precursor							93.0	90.0	91.0					3																	130380837		1895	4135	6030	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130380837C>T	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.6187C>T	3.37:g.130380837C>T	ENSP00000351310:p.His2063Tyr					COL6A6_uc003eni.3_Missense_Mutation_p.H162Y	p.H2063Y	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			34	6218	+			2063			VWFA 9.|Nonhelical region.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.6187C>T	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.996915	0.54147	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.82984	-1.67;-1.67	6.04	6.04	0.98038	von Willebrand factor, type A (3);	.	.	.	.	D	0.90363	0.6984	M	0.81942	2.565	0.09310	N	1	D;B	0.63046	0.992;0.151	D;B	0.79784	0.993;0.091	D	0.83560	0.0106	9	0.48119	T	0.1	.	10.5169	0.44896	0.0:0.8536:0.0:0.1464	.	2063;2063	A6NMZ7;F8W6Y7	CO6A6_HUMAN;.	Y	2063	ENSP00000351310:H2063Y;ENSP00000399236:H2063Y	ENSP00000351310:H2063Y	H	+	1	0	COL6A6	131863527	0.773000	0.28580	0.202000	0.23494	0.957000	0.61999	2.992000	0.49417	2.873000	0.98535	0.561000	0.74099	CAT		0.413	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		4	26	0	0	0	0.009096	0	4	26				
PIK3R4	30849	broad.mit.edu	37	3	130398210	130398210	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:130398210C>A	ENST00000356763.3	-	20	4583	c.4026G>T	c.(4024-4026)caG>caT	p.Q1342H	PIK3R4_ENST00000512677.1_5'Flank	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	1342					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						CGATGAAGCCCTGTGTGGTCT	0.428																																							uc003enj.2		NA																	0				ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12						c.(4024-4026)CAG>CAT		phosphoinositide-3-kinase, regulatory subunit 4							100.0	90.0	93.0					3																	130398210		2203	4300	6503	SO:0001583	missense	30849				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr3:130398210C>A	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.4026G>T	3.37:g.130398210C>A	ENSP00000349205:p.Gln1342His						p.Q1342H	NM_014602	NP_055417	Q99570	PI3R4_HUMAN			20	4607	-			1342			WD 7.		Q2TBF4	Missense_Mutation	SNP	ENST00000356763.3	37	c.4026G>T	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.901396	0.72754	.	.	ENSG00000196455	ENST00000356763	T	0.60424	0.19	5.17	3.1	0.35709	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.62768	0.2455	L	0.48642	1.525	0.58432	D	0.999999	D	0.89917	1.0	D	0.81914	0.995	T	0.59423	-0.7457	10	0.33141	T	0.24	-17.2655	5.9097	0.19020	0.0:0.6322:0.0:0.3678	.	1342	Q99570	PI3R4_HUMAN	H	1342	ENSP00000349205:Q1342H	ENSP00000349205:Q1342H	Q	-	3	2	PIK3R4	131880900	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.325000	0.43840	1.188000	0.43014	0.491000	0.48974	CAG		0.428	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		11	25	1	0	7.03913e-09	0.001368	9.3457e-09	11	25				
NPHP3	27031	broad.mit.edu	37	3	132403529	132403529	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:132403529C>T	ENST00000337331.5	-	24	3525	c.3439G>A	c.(3439-3441)Gaa>Aaa	p.E1147K	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	1147					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGTTTCTTTTCATTGCATAGA	0.428																																							uc003epe.1		NA																	0				ovary(1)	1						c.(3439-3441)GAA>AAA		nephrocystin 3							96.0	93.0	94.0					3																	132403529		2203	4300	6503	SO:0001583	missense	27031				maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding	g.chr3:132403529C>T	AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"""Tetratricopeptide (TTC) repeat domain containing"""	7907	protein-coding gene	gene with protein product	"""nephrocystin-3"", ""Meckel syndrome, type 7"", ""cilia and flagella associated protein 31"""	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.3439G>A	3.37:g.132403529C>T	ENSP00000338766:p.Glu1147Lys					NPHP3_uc003eoz.1_Missense_Mutation_p.E26K|NPHP3_uc003epd.1_Missense_Mutation_p.E389K	p.E1147K	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN			24	3516	-			1147			TPR 8.		Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Missense_Mutation	SNP	ENST00000337331.5	37	c.3439G>A	CCDS3078.1	.	.	.	.	.	.	.	.	.	.	C	35	5.467734	0.96257	.	.	ENSG00000113971	ENST00000393144;ENST00000393156;ENST00000512094;ENST00000337331	D;T	0.91740	-2.9;-0.88	5.8	5.8	0.92144	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.92482	0.7613	N	0.25094	0.71	0.80722	D	1	D;D	0.71674	0.996;0.998	D;D	0.67725	0.935;0.953	D	0.89594	0.3830	10	0.17832	T	0.49	-19.8537	20.0545	0.97645	0.0:1.0:0.0:0.0	.	1147;29	Q7Z494;Q7Z491	NPHP3_HUMAN;.	K	427;209;1;1147	ENSP00000427666:E1K;ENSP00000338766:E1147K	ENSP00000338766:E1147K	E	-	1	0	NPHP3	133886219	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.818000	0.86416	2.748000	0.94277	0.655000	0.94253	GAA		0.428	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2	NM_153240		13	20	0	0	0	0.001855	0	13	20				
CLSTN2	64084	broad.mit.edu	37	3	140178428	140178428	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:140178428C>A	ENST00000458420.3	+	7	1229	c.1039C>A	c.(1039-1041)Ctg>Atg	p.L347M	RP11-68L1.2_ENST00000503357.1_RNA|RP11-68L1.1_ENST00000483759.2_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	347					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GACTGCAGGACTGCTGGTGGA	0.557										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	GBM(45;858 913 3709 36904 37282)	uc003etn.2		NA																	0				skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						c.(1039-1041)CTG>ATG		calsyntenin 2 precursor							88.0	79.0	82.0					3																	140178428		2203	4300	6503	SO:0001583	missense	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140178428C>A	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.1039C>A	3.37:g.140178428C>A	ENSP00000402460:p.Leu347Met	HNSCC(16;0.037)				CLSTN2_uc003etm.2_Missense_Mutation_p.L347M	p.L347M	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN			7	1229	+			347			Extracellular (Potential).		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	c.1039C>A	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.444854	0.63178	.	.	ENSG00000158258	ENST00000458420	T	0.28454	1.61	5.41	5.41	0.78517	Concanavalin A-like lectin/glucanase (1);	0.000000	0.64402	D	0.000001	T	0.64875	0.2638	M	0.90922	3.16	0.58432	D	0.999999	D	0.76494	0.999	D	0.85130	0.997	T	0.72858	-0.4165	10	0.66056	D	0.02	-17.0442	16.6974	0.85339	0.0:1.0:0.0:0.0	.	347	Q9H4D0	CSTN2_HUMAN	M	347	ENSP00000402460:L347M	ENSP00000402460:L347M	L	+	1	2	CLSTN2	141661118	1.000000	0.71417	0.985000	0.45067	0.427000	0.31564	4.936000	0.63506	2.552000	0.86080	0.655000	0.94253	CTG		0.557	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		22	48	1	0	7.92952e-12	0.003954	1.14812e-11	22	48				
CLSTN2	64084	broad.mit.edu	37	3	140282874	140282874	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:140282874G>T	ENST00000458420.3	+	16	2744	c.2554G>T	c.(2554-2556)Gtg>Ttg	p.V852L		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	852					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GGCCATGGGTGTGTACCGGGT	0.537										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	GBM(45;858 913 3709 36904 37282)	uc003etn.2		NA																	0				skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						c.(2554-2556)GTG>TTG		calsyntenin 2 precursor							246.0	206.0	220.0					3																	140282874		2203	4300	6503	SO:0001583	missense	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140282874G>T	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.2554G>T	3.37:g.140282874G>T	ENSP00000402460:p.Val852Leu	HNSCC(16;0.037)					p.V852L	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN			16	2744	+			852			Helical; (Potential).		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	c.2554G>T	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.291672	0.23564	.	.	ENSG00000158258	ENST00000458420	T	0.26067	1.76	5.63	4.76	0.60689	.	0.114703	0.64402	D	0.000016	T	0.23532	0.0569	L	0.59912	1.85	0.48696	D	0.999693	P	0.37441	0.595	B	0.31016	0.123	T	0.03112	-1.1071	9	.	.	.	-15.5542	12.7229	0.57152	0.0807:0.0:0.9193:0.0	.	852	Q9H4D0	CSTN2_HUMAN	L	852	ENSP00000402460:V852L	.	V	+	1	0	CLSTN2	141765564	0.968000	0.33430	0.982000	0.44146	0.017000	0.09413	1.651000	0.37302	1.370000	0.46153	0.655000	0.94253	GTG		0.537	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		31	91	1	0	8.88839e-20	0.002096	1.46856e-19	31	91				
TRIM42	287015	broad.mit.edu	37	3	140406626	140406626	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:140406626G>T	ENST00000286349.3	+	3	1293	c.1102G>T	c.(1102-1104)Gac>Tac	p.D368Y		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	368						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CTTTAAAGCTGACAAGGAGGC	0.358																																							uc003eto.1		NA																	0				lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	7						c.(1102-1104)GAC>TAC		tripartite motif-containing 42							53.0	53.0	53.0					3																	140406626		2203	4300	6503	SO:0001583	missense	287015					intracellular	zinc ion binding	g.chr3:140406626G>T	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.1102G>T	3.37:g.140406626G>T	ENSP00000286349:p.Asp368Tyr						p.D368Y	NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN			3	1293	+			368					A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	ENST00000286349.3	37	c.1102G>T	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	G	10.02	1.237447	0.22711	.	.	ENSG00000155890	ENST00000286349	T	0.38077	1.16	5.63	2.74	0.32292	.	0.561821	0.17858	N	0.159631	T	0.16811	0.0404	N	0.08118	0	0.34071	D	0.658435	B	0.10296	0.003	B	0.06405	0.002	T	0.11251	-1.0595	10	0.37606	T	0.19	-0.0114	6.3812	0.21536	0.1734:0.1545:0.6721:0.0	.	368	Q8IWZ5	TRI42_HUMAN	Y	368	ENSP00000286349:D368Y	ENSP00000286349:D368Y	D	+	1	0	TRIM42	141889316	0.926000	0.31397	1.000000	0.80357	0.958000	0.62258	1.147000	0.31602	1.401000	0.46761	0.555000	0.69702	GAC		0.358	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		9	19	1	0	0.00621372	0.006214	0.0065484	9	19				
PLSCR1	5359	broad.mit.edu	37	3	146251271	146251271	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:146251271G>A	ENST00000342435.4	-	3	490	c.80C>T	c.(79-81)cCg>cTg	p.P27L	PLSCR1_ENST00000448787.2_Nonsense_Mutation_p.R19*|PLSCR1_ENST00000448205.1_5'UTR|PLSCR1_ENST00000487389.1_Missense_Mutation_p.P20L	NM_021105.2	NP_066928.1	O15162	PLS1_HUMAN	phospholipid scramblase 1	27	Proline-rich domain (PRD).				acute-phase response (GO:0006953)|apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|negative regulation of viral genome replication (GO:0045071)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid scrambling (GO:0017121)|platelet activation (GO:0030168)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of gene expression (GO:0010628)|positive regulation of innate immune response (GO:0045089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060368)|regulation of mast cell activation (GO:0033003)|response to interferon-beta (GO:0035456)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|epidermal growth factor receptor binding (GO:0005154)|phospholipid scramblase activity (GO:0017128)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						GAATGCTGTCGGTGGATACTG	0.433																																							uc003evx.3		NA																	0				ovary(2)	2						c.(79-81)CCG>CTG		phospholipid scramblase 1							106.0	107.0	107.0					3																	146251271		2203	4300	6503	SO:0001583	missense	5359				phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding	g.chr3:146251271G>A	AF098642	CCDS3135.1	3q23	2004-02-27			ENSG00000188313	ENSG00000188313			9092	protein-coding gene	gene with protein product		604170				9218461	Standard	NM_021105		Approved	MMTRA1B	uc003evx.4	O15162	OTTHUMG00000159427	ENST00000342435.4:c.80C>T	3.37:g.146251271G>A	ENSP00000345494:p.Pro27Leu					PLSCR1_uc003evy.3_Missense_Mutation_p.P20L|PLSCR1_uc011bnn.1_Nonsense_Mutation_p.R19*|PLSCR1_uc003evz.3_RNA|PLSCR1_uc003ewa.2_Missense_Mutation_p.P27L	p.P27L	NM_021105	NP_066928	O15162	PLS1_HUMAN			3	468	-			27			Cytoplasmic.		B2R8H8|B4DTE8	Missense_Mutation	SNP	ENST00000342435.4	37	c.80C>T	CCDS3135.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.1|20.1	3.941082|3.941082	0.73557|0.73557	.|.	.|.	ENSG00000188313|ENSG00000188313	ENST00000342435;ENST00000487389;ENST00000462666;ENST00000472349|ENST00000448787;ENST00000486631	T;T;T;T|.	0.25085|.	2.16;2.17;2.09;1.82|.	3.58|3.58	2.71|2.71	0.32032|0.32032	.|.	.|.	.|.	.|.	.|.	T|.	0.46541|.	0.1398|.	M|M	0.61703|0.61703	1.905|1.905	0.20563|0.20563	N|N	0.999884|0.999884	P;B|.	0.40875|.	0.731;0.079|.	B;B|.	0.30251|.	0.113;0.005|.	T|.	0.40346|.	-0.9568|.	9|.	0.72032|0.72032	D|D	0.01|0.01	.|.	6.9891|6.9891	0.24745|0.24745	0.1237:0.0:0.8763:0.0|0.1237:0.0:0.8763:0.0	.|.	27;27|.	Q8WVK1;O15162|.	.;PLS1_HUMAN|.	L|X	27;20;27;27|19	ENSP00000345494:P27L;ENSP00000417792:P20L;ENSP00000418103:P27L;ENSP00000420523:P27L|.	ENSP00000345494:P27L|ENSP00000411675:R19X	P|R	-|-	2|1	0|2	PLSCR1|PLSCR1	147733961|147733961	0.003000|0.003000	0.15002|0.15002	0.001000|0.001000	0.08648|0.08648	0.004000|0.004000	0.04260|0.04260	1.382000|1.382000	0.34374|0.34374	1.095000|1.095000	0.41419|0.41419	0.650000|0.650000	0.86243|0.86243	CCG|CGA		0.433	PLSCR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355257.2	NM_021105		29	93	0	0	0	0.004878	0	29	93				
IGSF10	285313	broad.mit.edu	37	3	151166319	151166319	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:151166319C>A	ENST00000282466.3	-	4	1449	c.1450G>T	c.(1450-1452)Gaa>Taa	p.E484*		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	484	Ig-like C2-type 1.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ACAGTATGTTCCAGCTTAGTA	0.483																																							uc011bod.1		NA																	0				skin(7)|ovary(5)|central_nervous_system(1)	13						c.(1450-1452)GAA>TAA		immunoglobulin superfamily, member 10 precursor							250.0	233.0	239.0					3																	151166319		2203	4300	6503	SO:0001587	stop_gained	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151166319C>A	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.1450G>T	3.37:g.151166319C>A	ENSP00000282466:p.Glu484*						p.E484*	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	1450	-			484			Ig-like C2-type 1.		Q86YJ9|Q8N772|Q8NA84	Nonsense_Mutation	SNP	ENST00000282466.3	37	c.1450G>T	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	37	6.124163	0.97305	.	.	ENSG00000152580	ENST00000282466	.	.	.	5.08	4.15	0.48705	.	0.144785	0.31167	N	0.008132	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	14.9554	0.71110	0.0:0.8566:0.1434:0.0	.	.	.	.	X	484	.	ENSP00000282466:E484X	E	-	1	0	IGSF10	152649009	0.978000	0.34361	0.935000	0.37517	0.870000	0.49936	3.031000	0.49728	2.378000	0.81104	0.555000	0.69702	GAA		0.483	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		34	128	1	0	1.47197e-15	0.007835	2.30645e-15	34	128				
SI	6476	broad.mit.edu	37	3	164785164	164785164	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:164785164C>A	ENST00000264382.3	-	6	661	c.599G>T	c.(598-600)aGc>aTc	p.S200I		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	200	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	AACTTGGATGCTAAATGGGTT	0.303										HNSCC(35;0.089)																													uc003fei.2		NA																	0				ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(598-600)AGC>ATC		sucrase-isomaltase	Acarbose(DB00284)						101.0	101.0	101.0					3																	164785164		2203	4298	6501	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164785164C>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.599G>T	3.37:g.164785164C>A	ENSP00000264382:p.Ser200Ile	HNSCC(35;0.089)					p.S200I	NM_001041	NP_001032	P14410	SUIS_HUMAN			6	661	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	200			Lumenal.|Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.599G>T	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.944267	0.53079	.	.	ENSG00000090402	ENST00000264382	T	0.13901	2.55	5.25	4.32	0.51571	Glycoside hydrolase-type carbohydrate-binding (1);	0.178930	0.64402	D	0.000011	T	0.46092	0.1375	M	0.91768	3.24	0.34056	D	0.656737	D	0.89917	1.0	D	0.76575	0.988	T	0.67106	-0.5754	10	0.66056	D	0.02	.	16.4556	0.84011	0.0:0.8691:0.1309:0.0	.	200	P14410	SUIS_HUMAN	I	200	ENSP00000264382:S200I	ENSP00000264382:S200I	S	-	2	0	SI	166267858	1.000000	0.71417	0.997000	0.53966	0.315000	0.28087	4.689000	0.61723	2.616000	0.88540	0.573000	0.79308	AGC		0.303	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		14	51	1	0	3.45872e-05	0.004007	3.9962e-05	14	51				
SERPINI2	5276	broad.mit.edu	37	3	167164224	167164224	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:167164224A>G	ENST00000476257.1	-	9	1395	c.1097T>C	c.(1096-1098)aTa>aCa	p.I366T	SERPINI2_ENST00000461846.1_Missense_Mutation_p.I366T|SERPINI2_ENST00000471111.1_Missense_Mutation_p.I366T|SERPINI2_ENST00000264677.4_Missense_Mutation_p.I366T			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	366					cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						ATGATTTGCTATAAATTGGCT	0.338																																							uc003fer.1		NA																	0				skin(2)|urinary_tract(1)	3						c.(1096-1098)ATA>ACA		serpin peptidase inhibitor, clade I (pancpin),							117.0	127.0	123.0					3																	167164224		2203	4299	6502	SO:0001583	missense	5276				cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:167164224A>G	AB006423	CCDS3200.1, CCDS75047.1	3q26.1	2014-02-18	2005-08-18		ENSG00000114204	ENSG00000114204		"""Serine (or cysteine) peptidase inhibitors"""	8945	protein-coding gene	gene with protein product		605587	"""serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 2"", ""serine (or cysteine) proteinase inhibitor, clade I (pancpin), member 2"""	PI14		9624529, 24172014	Standard	NM_006217		Approved	PANCPIN, TSA2004, MEPI, pancpin	uc003fes.2	O75830	OTTHUMG00000158231	ENST00000476257.1:c.1097T>C	3.37:g.167164224A>G	ENSP00000420621:p.Ile366Thr					SERPINI2_uc003fes.1_Missense_Mutation_p.I376T|SERPINI2_uc003fet.1_Missense_Mutation_p.I366T	p.I366T	NM_006217	NP_006208	O75830	SPI2_HUMAN			7	1155	-			366						Missense_Mutation	SNP	ENST00000476257.1	37	c.1097T>C	CCDS3200.1	.	.	.	.	.	.	.	.	.	.	A	8.098	0.775942	0.16051	.	.	ENSG00000114204	ENST00000476257;ENST00000461846;ENST00000264677;ENST00000471111	D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83	5.61	4.45	0.53987	Serpin domain (3);Protease inhibitor I4, serpin, conserved site (1);	0.352005	0.34046	N	0.004303	T	0.76104	0.3941	L	0.35723	1.085	0.21220	N	0.999755	B;B	0.14012	0.0;0.009	B;B	0.15052	0.002;0.012	T	0.62959	-0.6743	10	0.35671	T	0.21	.	7.1836	0.25786	0.8272:0.0:0.1728:0.0	.	366;366	B4DDY9;O75830	.;SPI2_HUMAN	T	366	ENSP00000420621:I366T;ENSP00000417692:I366T;ENSP00000264677:I366T;ENSP00000419407:I366T	ENSP00000264677:I366T	I	-	2	0	SERPINI2	168646918	1.000000	0.71417	0.996000	0.52242	0.120000	0.20174	1.547000	0.36190	0.954000	0.37851	0.528000	0.53228	ATA		0.338	SERPINI2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350450.1	NM_006217		25	77	0	0	0	0.002096	0	25	77				
WDR49	151790	broad.mit.edu	37	3	167240272	167240272	+	Splice_Site	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:167240272C>A	ENST00000308378.3	-	12	1854	c.1549G>T	c.(1549-1551)Gca>Tca	p.A517S	WDR49_ENST00000476376.1_Splice_Site_p.A342S|WDR49_ENST00000453925.2_Intron|WDR49_ENST00000479765.1_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	517										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CAGTGCTTTGCCTGAAAAAAA	0.303																																							uc003fev.1		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(1549-1551)GCA>TCA		WD repeat domain 49							49.0	51.0	50.0					3																	167240272		2202	4296	6498	SO:0001630	splice_region_variant	151790							g.chr3:167240272C>A	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.1549-1G>T	3.37:g.167240272C>A						WDR49_uc003feu.1_Missense_Mutation_p.A342S|WDR49_uc011bpd.1_Intron|WDR49_uc003few.1_Intron	p.A517S	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN			12	1855	-			517					Q8N297	Missense_Mutation	SNP	ENST00000308378.3	37	c.1549G>T	CCDS3201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.27|12.27	1.886296|1.886296	0.33348|0.33348	.|.	.|.	ENSG00000174776|ENSG00000174776	ENST00000308378;ENST00000476376|ENST00000493061	T;T|.	0.51325|.	0.71;1.99|.	5.23|5.23	4.11|4.11	0.48088|0.48088	WD40 repeat-like-containing domain (1);|.	1.066660|.	0.07205|.	N|.	0.858074|.	T|T	0.56426|0.56426	0.1984|0.1984	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	P|.	0.35433|.	0.501|.	B|.	0.22386|.	0.039|.	T|T	0.53330|0.53330	-0.8454|-0.8454	10|5	0.27082|.	T|.	0.32|.	.|.	6.6291|6.6291	0.22847|0.22847	0.0:0.8449:0.0:0.1551|0.0:0.8449:0.0:0.1551	.|.	517|.	Q8IV35|.	WDR49_HUMAN|.	S|S	517;342|88	ENSP00000311343:A517S;ENSP00000420508:A342S|.	ENSP00000311343:A517S|.	A|R	-|-	1|3	0|2	WDR49|WDR49	168722966|168722966	0.984000|0.984000	0.35163|0.35163	0.996000|0.996000	0.52242|0.52242	0.925000|0.925000	0.55904|0.55904	1.022000|1.022000	0.30052|0.30052	2.595000|2.595000	0.87683|0.87683	0.650000|0.650000	0.86243|0.86243	GCA|AGG		0.303	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824	Missense_Mutation	7	20	1	0	1.12685e-05	0.004482	1.32356e-05	7	20				
NLGN1	22871	broad.mit.edu	37	3	173996667	173996667	+	Silent	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:173996667A>T	ENST00000457714.1	+	6	1305	c.876A>T	c.(874-876)gcA>gcT	p.A292A	NLGN1_ENST00000361589.4_Silent_p.A292A|NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000545397.1_Silent_p.A292A|NLGN1_ENST00000401917.3_Silent_p.A332A	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	309					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TTCAACGAGCAATAGCTCAAA	0.368																																							uc003fio.1		NA																	0				lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7						c.(874-876)GCA>GCT		neuroligin 1							53.0	54.0	54.0					3																	173996667		2202	4299	6501	SO:0001819	synonymous_variant	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173996667A>T	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.876A>T	3.37:g.173996667A>T						NLGN1_uc010hww.1_Silent_p.A332A|NLGN1_uc003fip.1_Silent_p.A292A	p.A292A	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		6	1299	+	Ovarian(172;0.0025)		309			Extracellular (Potential).		Q9UPT2	Silent	SNP	ENST00000457714.1	37	c.876A>T	CCDS3222.1																																																																																				0.368	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		13	20	0	0	0	0.00245	0	13	20				
NLGN1	22871	broad.mit.edu	37	3	173997229	173997229	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:173997229G>T	ENST00000457714.1	+	6	1867	c.1438G>T	c.(1438-1440)Ggt>Tgt	p.G480C	NLGN1_ENST00000361589.4_Missense_Mutation_p.G480C|NLGN1_ENST00000545397.1_Missense_Mutation_p.G480C|NLGN1_ENST00000401917.3_Missense_Mutation_p.G520C	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	497					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CTCAAACTTTGGTTCACCTAC	0.488																																							uc003fio.1		NA																	0				lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7						c.(1438-1440)GGT>TGT		neuroligin 1							87.0	84.0	85.0					3																	173997229		2203	4300	6503	SO:0001583	missense	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173997229G>T	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.1438G>T	3.37:g.173997229G>T	ENSP00000392500:p.Gly480Cys					NLGN1_uc010hww.1_Missense_Mutation_p.G520C|NLGN1_uc003fip.1_Missense_Mutation_p.G480C	p.G480C	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		6	1861	+	Ovarian(172;0.0025)		497			Extracellular (Potential).		Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	c.1438G>T	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.380643	0.82792	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.85022	0.5602	M	0.92507	3.315	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73708	0.981;0.931	D	0.87265	0.2282	10	0.87932	D	0	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	520;480	D2X2H5;Q8N2Q7-2	.;.	C	480;480;480;520	ENSP00000392500:G480C;ENSP00000354541:G480C;ENSP00000441108:G480C;ENSP00000385750:G520C	ENSP00000354541:G480C	G	+	1	0	NLGN1	175479923	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.873000	0.98535	0.563000	0.77884	GGT		0.488	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		13	31	1	0	6.72482e-11	0.003163	9.4965e-11	13	31				
NAALADL2	254827	broad.mit.edu	37	3	175184794	175184794	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:175184794A>G	ENST00000454872.1	+	8	1483	c.1355A>G	c.(1354-1356)cAt>cGt	p.H452R	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	452						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		GGCAGCCATCATCACACTGCA	0.373																																							uc003fit.2		NA																	0				pancreas(1)	1						c.(1354-1356)CAT>CGT		N-acetylated alpha-linked acidic dipeptidase 2							210.0	204.0	206.0					3																	175184794		1973	4159	6132	SO:0001583	missense	254827				proteolysis	integral to membrane	peptidase activity	g.chr3:175184794A>G		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.1355A>G	3.37:g.175184794A>G	ENSP00000404705:p.His452Arg					NAALADL2_uc003fiu.1_Missense_Mutation_p.H445R|NAALADL2_uc010hwy.1_Missense_Mutation_p.H226R|NAALADL2_uc010hwz.1_Missense_Mutation_p.H46R	p.H452R	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)	8	1442	+	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	452			Extracellular (Potential).		Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Missense_Mutation	SNP	ENST00000454872.1	37	c.1355A>G	CCDS46960.1	.	.	.	.	.	.	.	.	.	.	A	9.106	1.005400	0.19199	.	.	ENSG00000177694	ENST00000454872	T	0.37411	1.2	5.58	5.58	0.84498	Peptidase M28 (1);	0.193986	0.42682	D	0.000668	T	0.36358	0.0964	N	0.11064	0.09	0.43683	D	0.996126	D	0.89917	1.0	D	0.87578	0.998	T	0.14811	-1.0459	10	0.02654	T	1	-20.4516	15.7451	0.77932	1.0:0.0:0.0:0.0	.	452	Q58DX5	NADL2_HUMAN	R	452	ENSP00000404705:H452R	ENSP00000404705:H452R	H	+	2	0	NAALADL2	176667488	1.000000	0.71417	0.828000	0.32881	0.771000	0.43674	7.939000	0.87685	2.134000	0.65973	0.477000	0.44152	CAT		0.373	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015		54	146	0	0	0	0.00361	0	54	146				
PIK3CA	5290	broad.mit.edu	37	3	178919301	178919301	+	Silent	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:178919301A>T	ENST00000263967.3	+	4	943	c.786A>T	c.(784-786)ctA>ctT	p.L262L		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	262	PI3K-RBD. {ECO:0000255|PROSITE- ProRule:PRU00879}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATACTTCCTAGAAAAATATC	0.299		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		0				breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(784-786)CTA>CTT		phosphoinositide-3-kinase, catalytic, alpha							42.0	41.0	42.0					3																	178919301		1791	4070	5861	SO:0001819	synonymous_variant	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178919301A>T		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.786A>T	3.37:g.178919301A>T		HNSCC(19;0.045)|TSP Lung(28;0.18)					p.L262L	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		4	943	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		262			PI3K-RBD.		Q14CW1|Q99762	Silent	SNP	ENST00000263967.3	37	c.786A>T	CCDS43171.1																																																																																				0.299	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			13	36	0	0	0	0.003163	0	13	36				
KLHL6	89857	broad.mit.edu	37	3	183273217	183273217	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:183273217G>C	ENST00000341319.3	-	1	260	c.225C>G	c.(223-225)atC>atG	p.I75M		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	75	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)					breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			CCACACACAAGATGACATCTG	0.502																																							uc003flr.2		NA																	0				haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3						c.(223-225)ATC>ATG		kelch-like 6							133.0	124.0	127.0					3																	183273217		2203	4300	6503	SO:0001583	missense	89857							g.chr3:183273217G>C	AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"""Kelch-like"", ""BTB/POZ domain containing"""	18653	protein-coding gene	gene with protein product	"""kelch-like protein KLHL6"""	614214	"""kelch-like 6 (Drosophila)"""			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.225C>G	3.37:g.183273217G>C	ENSP00000341342:p.Ile75Met					KLHL6_uc003fls.1_RNA|KLHL6_uc003flt.1_Missense_Mutation_p.I73M	p.I75M	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)		1	283	-	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		75			BTB.		B2RB31|D3DNS8|Q8N5I1|Q8N892	Missense_Mutation	SNP	ENST00000341319.3	37	c.225C>G	CCDS3245.2	.	.	.	.	.	.	.	.	.	.	G	15.61	2.884297	0.51908	.	.	ENSG00000172578	ENST00000341319	T	0.68765	-0.35	5.56	3.75	0.43078	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.287528	0.39020	N	0.001500	T	0.71195	0.3311	L	0.47016	1.485	0.41259	D	0.98676	D	0.53619	0.961	P	0.57620	0.824	T	0.74548	-0.3629	10	0.72032	D	0.01	.	12.1553	0.54072	0.1401:0.0:0.8599:0.0	.	75	Q8WZ60	KLHL6_HUMAN	M	75	ENSP00000341342:I75M	ENSP00000341342:I75M	I	-	3	3	KLHL6	184755911	0.967000	0.33354	0.993000	0.49108	0.981000	0.71138	0.870000	0.28010	1.346000	0.45694	0.655000	0.94253	ATC		0.502	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309024.1	NM_130446		37	77	0	0	0	0.007835	0	37	77				
PARL	55486	broad.mit.edu	37	3	183602624	183602624	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:183602624C>T	ENST00000317096.4	-	1	71	c.11G>A	c.(10-12)cGa>cAa	p.R4Q	RP11-315J22.5_ENST00000445165.1_RNA|MIR4448_ENST00000584360.1_RNA|PARL_ENST00000435888.1_Missense_Mutation_p.R4Q|PARL_ENST00000311101.5_Missense_Mutation_p.R4Q	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	4					membrane protein proteolysis (GO:0033619)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|proteolysis (GO:0006508)|regulation of protein targeting to mitochondrion (GO:1903214)|regulation of reactive oxygen species metabolic process (GO:2000377)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CGCCCAGCCTCGCCACGCCAT	0.697											OREG0015941	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003fmd.2		NA																	0					0						c.(10-12)CGA>CAA		presenilin associated, rhomboid-like isoform 1							12.0	12.0	12.0					3																	183602624		2177	4273	6450	SO:0001583	missense	55486				proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity	g.chr3:183602624C>T	AF116692	CCDS3248.1, CCDS33897.1	3q27.3	2008-02-05		2006-02-28	ENSG00000175193	ENSG00000175193			18253	protein-coding gene	gene with protein product	"""rhomboid 7 homolog 1 (Drosophila)"""	607858		PSARL			Standard	XM_005247587		Approved	PRO2207, PSARL1, RHBDS1	uc003fmd.3	Q9H300	OTTHUMG00000156890	ENST00000317096.4:c.11G>A	3.37:g.183602624C>T	ENSP00000325421:p.Arg4Gln		OREG0015941	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1985	PARL_uc003fme.2_Missense_Mutation_p.R4Q	p.R4Q	NM_018622	NP_061092	Q9H300	PARL_HUMAN	all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		1	70	-	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		4					Q96CQ4|Q9BTJ6|Q9P1E3	Missense_Mutation	SNP	ENST00000317096.4	37	c.11G>A	CCDS3248.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.244415	0.59103	.	.	ENSG00000175193	ENST00000317096;ENST00000311101;ENST00000435888	T;T;T	0.57436	0.44;0.4;0.41	4.72	2.9	0.33743	.	0.287283	0.26026	N	0.026798	T	0.34716	0.0907	L	0.27053	0.805	0.23820	N	0.99675	B;B	0.16802	0.013;0.019	B;B	0.14578	0.011;0.007	T	0.17289	-1.0374	10	0.37606	T	0.19	-0.0854	6.7246	0.23348	0.0:0.7822:0.0:0.2178	.	4;4	Q9H300-2;Q9H300	.;PARL_HUMAN	Q	4	ENSP00000325421:R4Q;ENSP00000310676:R4Q;ENSP00000402137:R4Q	ENSP00000310676:R4Q	R	-	2	0	PARL	185085318	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.711000	0.37930	0.695000	0.31675	0.655000	0.94253	CGA		0.697	PARL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346465.1	NM_018622		9	18	0	0	0	0.000978	0	9	18				
PSMD2	5708	broad.mit.edu	37	3	184025763	184025763	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:184025763G>A	ENST00000310118.4	+	19	2942	c.2384G>A	c.(2383-2385)gGa>gAa	p.G795E	PSMD2_ENST00000439383.1_Missense_Mutation_p.G665E|PSMD2_ENST00000435761.1_Missense_Mutation_p.G636E|EIF2B5_ENST00000444495.1_Intron	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	795					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|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 peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	GCCGTGGCTGGACTGCTCACT	0.527																																					Colon(24;313 636 6917 9932 15554)	Colon(24;313 636 6917 9932 15554)	uc003fnn.1		NA																	0					0						c.(2383-2385)GGA>GAA		proteasome 26S non-ATPase subunit 2	Bortezomib(DB00188)						70.0	66.0	68.0					3																	184025763		2203	4300	6503	SO:0001583	missense	5708				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	g.chr3:184025763G>A	AK095245	CCDS3258.1, CCDS63853.1, CCDS63854.1	3q27.3	2008-05-22			ENSG00000175166	ENSG00000175166		"""Proteasome (prosome, macropain) subunits"""	9559	protein-coding gene	gene with protein product		606223				8774743	Standard	NM_002808		Approved	S2, P97, TRAP2, MGC14274, Rpn1	uc003fnn.1	Q13200	OTTHUMG00000156796	ENST00000310118.4:c.2384G>A	3.37:g.184025763G>A	ENSP00000310129:p.Gly795Glu					PSMD2_uc011brj.1_Missense_Mutation_p.G636E|PSMD2_uc011brk.1_Missense_Mutation_p.G665E	p.G795E	NM_002808	NP_002799	Q13200	PSMD2_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		19	2417	+	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		795					B4DX07|B4DXY1|E7EW34|E9PCS3|Q12932|Q15321|Q53XQ4|Q96I12	Missense_Mutation	SNP	ENST00000310118.4	37	c.2384G>A	CCDS3258.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.806077	0.90623	.	.	ENSG00000175166	ENST00000310118;ENST00000358216;ENST00000538096;ENST00000435761;ENST00000439383	T;T;T	0.40756	1.02;1.02;1.02	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.73783	0.3631	M	0.91196	3.185	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.83275	0.95;0.996	T	0.79369	-0.1832	10	0.87932	D	0	-23.0408	19.545	0.95291	0.0:0.0:1.0:0.0	.	636;795	E9PCS3;Q13200	.;PSMD2_HUMAN	E	795;467;787;636;665	ENSP00000310129:G795E;ENSP00000402618:G636E;ENSP00000416028:G665E	ENSP00000310129:G795E	G	+	2	0	PSMD2	185508457	1.000000	0.71417	0.990000	0.47175	0.965000	0.64279	9.434000	0.97515	2.712000	0.92718	0.563000	0.77884	GGA		0.527	PSMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345843.1	NM_002808		12	43	0	0	0	0.00245	0	12	43				
MAP3K13	9175	broad.mit.edu	37	3	185191263	185191263	+	Missense_Mutation	SNP	A	A	G	rs370957516		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:185191263A>G	ENST00000265026.3	+	11	2478	c.2144A>G	c.(2143-2145)aAg>aGg	p.K715R	MAP3K13_ENST00000446828.1_Missense_Mutation_p.K508R|MAP3K13_ENST00000443863.1_Missense_Mutation_p.K571R|MAP3K13_ENST00000424227.1_Missense_Mutation_p.K715R|MAP3K13_ENST00000535426.1_Missense_Mutation_p.K571R	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13											NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GAGCCTGACAAGGGCCAAGCT	0.597																																							uc010hyf.2		NA																	0				ovary(2)|skin(1)	3						c.(2143-2145)AAG>AGG		mitogen-activated protein kinase kinase kinase		A	ARG/LYS,ARG/LYS,ARG/LYS	0,4406		0,0,2203	60.0	61.0	61.0		2144,1523,2144	-1.6	0.0	3		61	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	MAP3K13	NM_004721.4,NM_001242317.1,NM_001242314.1	26,26,26	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign,benign,benign	715/967,508/760,715/967	185191263	1,13005	2203	4300	6503	SO:0001583	missense	9175				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr3:185191263A>G	BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.2144A>G	3.37:g.185191263A>G	ENSP00000265026:p.Lys715Arg					MAP3K13_uc011brt.1_Missense_Mutation_p.K508R|MAP3K13_uc011bru.1_Missense_Mutation_p.K571R|MAP3K13_uc003fpi.2_Missense_Mutation_p.K715R|MAP3K13_uc010hyg.2_Missense_Mutation_p.K405R	p.K715R	NM_004721	NP_004712	O43283	M3K13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		12	2410	+	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		715						Missense_Mutation	SNP	ENST00000265026.3	37	c.2144A>G	CCDS3270.1	.	.	.	.	.	.	.	.	.	.	A	1.598	-0.527191	0.04141	0.0	1.16E-4	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026	T;T;T;T;T	0.77358	-1.09;-1.01;-0.98;-0.98;-1.01	5.6	-1.59	0.08453	.	1.478330	0.03606	N	0.234239	T	0.56247	0.1972	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.42258	-0.9462	10	0.14656	T	0.56	.	7.2221	0.25994	0.4469:0.1258:0.4273:0.0	.	571;508;715	O43283-4;O43283-5;O43283	.;.;M3K13_HUMAN	R	508;715;571;571;715	ENSP00000411483:K508R;ENSP00000399910:K715R;ENSP00000409325:K571R;ENSP00000439257:K571R;ENSP00000265026:K715R	ENSP00000265026:K715R	K	+	2	0	MAP3K13	186673957	0.001000	0.12720	0.006000	0.13384	0.114000	0.19823	0.412000	0.21131	-0.190000	0.10465	-0.366000	0.07423	AAG		0.597	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721		23	53	0	0	0	0.00632	0	23	53				
RTP2	344892	broad.mit.edu	37	3	187419766	187419766	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:187419766G>T	ENST00000358241.1	-	1	579	c.151C>A	c.(151-153)Cac>Aac	p.H51N	RP11-211G3.3_ENST00000449623.1_5'Flank|RP11-211G3.3_ENST00000437407.1_5'Flank	NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	51					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)			large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		CCTGAGGCGTGCTGCTCCAGG	0.622																																							uc003fro.1		NA																	0					0						c.(151-153)CAC>AAC		receptor transporting protein 2							99.0	103.0	102.0					3																	187419766		2203	4300	6503	SO:0001583	missense	344892				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	g.chr3:187419766G>T	AY562236	CCDS33911.1	3q27.3	2014-02-20	2006-11-21		ENSG00000198471	ENSG00000198471		"""Receptor transporter proteins"""	32486	protein-coding gene	gene with protein product	"""receptor transporting protein 2"", ""zinc finger, 3CxxC-type 2"""	609138	"""receptor transporter protein 2"""			16271481, 15550249, 16720576	Standard	NM_001004312		Approved	MGC78665, Z3CXXC2	uc003fro.1	Q5QGT7	OTTHUMG00000156458	ENST00000358241.1:c.151C>A	3.37:g.187419766G>T	ENSP00000350976:p.His51Asn						p.H51N	NM_001004312	NP_001004312	Q5QGT7	RTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)	1	580	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		51			Cytoplasmic (Potential).		Q6NVH4	Missense_Mutation	SNP	ENST00000358241.1	37	c.151C>A	CCDS33911.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.778696	0.49891	.	.	ENSG00000198471	ENST00000358241	T	0.14144	2.53	4.61	3.74	0.42951	.	0.451574	0.25663	N	0.029128	T	0.15652	0.0377	N	0.14661	0.345	0.30471	N	0.773278	D	0.76494	0.999	D	0.74348	0.983	T	0.04885	-1.0920	10	0.15066	T	0.55	-14.6033	8.8007	0.34907	0.1004:0.0:0.8996:0.0	.	51	Q5QGT7	RTP2_HUMAN	N	51	ENSP00000350976:H51N	ENSP00000350976:H51N	H	-	1	0	RTP2	188902460	1.000000	0.71417	0.997000	0.53966	0.829000	0.46940	4.924000	0.63418	1.548000	0.49413	0.650000	0.86243	CAC		0.622	RTP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344259.1	NM_001004312		27	81	1	0	4.06085e-26	0.007291	7.11247e-26	27	81				
ATP13A5	344905	broad.mit.edu	37	3	193080198	193080198	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:193080198C>A	ENST00000342358.4	-	5	625	c.508G>T	c.(508-510)Ggt>Tgt	p.G170C		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	170						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CTGGTCAGACCCAATCCAAAT	0.418																																							uc011bsq.1		NA																	0				ovary(5)|skin(4)|large_intestine(2)	11						c.(508-510)GGT>TGT		ATPase type 13A5							146.0	134.0	139.0					3																	193080198		2203	4300	6503	SO:0001583	missense	344905				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193080198C>A	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.508G>T	3.37:g.193080198C>A	ENSP00000341942:p.Gly170Cys						p.G170C	NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)	5	508	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		170					Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	c.508G>T	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.310704	0.81358	.	.	ENSG00000187527	ENST00000342358	D	0.99663	-6.33	5.42	5.42	0.78866	ATPase, P-type cation-transporter, N-terminal (2);	0.000000	0.64402	D	0.000002	D	0.99785	0.9910	H	0.96805	3.885	0.51767	D	0.999932	D	0.89917	1.0	D	0.97110	1.0	D	0.97131	0.9818	10	0.87932	D	0	-12.2198	17.0962	0.86635	0.0:1.0:0.0:0.0	.	170	Q4VNC0	AT135_HUMAN	C	170	ENSP00000341942:G170C	ENSP00000341942:G170C	G	-	1	0	ATP13A5	194562892	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	4.784000	0.62411	2.713000	0.92767	0.655000	0.94253	GGT		0.418	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		29	62	1	0	2.68265e-12	0.002836	3.93545e-12	29	62				
MUC4	4585	broad.mit.edu	37	3	195516489	195516489	+	Silent	SNP	G	G	A	rs371051811		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:195516489G>A	ENST00000463781.3	-	2	2421	c.1962C>T	c.(1960-1962)tcC>tcT	p.S654S	MUC4_ENST00000475231.1_Silent_p.S654S|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	659					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGGGGGAGACGGACCTCGTGG	0.557																																							uc011bto.1		NA																	0					0						c.(1960-1962)TCC>TCT		mucin 4 isoform a			,,	0,4150		0,0,2075	207.0	218.0	214.0		,1962,	-4.9	0.0	3		214	1,8403		0,1,4201	no	intron,coding-synonymous,intron	MUC4	NM_004532.5,NM_018406.6,NM_138297.4	,,	0,1,6276	AA,AG,GG		0.0119,0.0,0.0080	,,	,654/5413,	195516489	1,12553	2075	4202	6277	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195516489G>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.1962C>T	3.37:g.195516489G>A						MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Silent_p.S536S	p.S654S	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	2422	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	659					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	c.1962C>T	CCDS54700.1																																																																																				0.557	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		27	78	0	0	0	0.008361	0	27	78				
RNF168	165918	broad.mit.edu	37	3	196229811	196229811	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:196229811C>A	ENST00000318037.3	-	1	828	c.234G>T	c.(232-234)acG>acT	p.T78T		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	78					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K13 ubiquitination (GO:0036351)|histone H2A-K15 ubiquitination (GO:0036352)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		TTTGAATTATCGTCCACAGTT	0.502																																							uc003fwq.2		NA																	0					0						c.(232-234)ACG>ACT		ring finger protein 168							102.0	89.0	93.0					3																	196229811		2203	4300	6503	SO:0001819	synonymous_variant	165918				double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:196229811C>A	AK054732	CCDS3317.1	3q29	2014-09-17	2012-02-23		ENSG00000163961	ENSG00000163961		"""RING-type (C3HC4) zinc fingers"""	26661	protein-coding gene	gene with protein product		612688	"""ring finger protein 168"""			12477932	Standard	NM_152617		Approved	FLJ35794	uc003fwq.3	Q8IYW5	OTTHUMG00000155582	ENST00000318037.3:c.234G>T	3.37:g.196229811C>A						RNF168_uc010iah.2_5'UTR	p.T78T	NM_152617	NP_689830	Q8IYW5	RN168_HUMAN	Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)	1	772	-	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		78					Q8NA67|Q96NS4	Silent	SNP	ENST00000318037.3	37	c.234G>T	CCDS3317.1																																																																																				0.502	RNF168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340778.1	NM_152617		22	23	1	0	2.98393e-07	0.00278	3.74439e-07	22	23				
BDH1	622	broad.mit.edu	37	3	197238927	197238927	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:197238927C>A	ENST00000392378.2	-	7	1181	c.871G>T	c.(871-873)Ggc>Tgc	p.G291C	BDH1_ENST00000358186.2_Missense_Mutation_p.G291C|BDH1_ENST00000441275.1_Missense_Mutation_p.G204C|BDH1_ENST00000392379.1_Missense_Mutation_p.G291C	NM_004051.4	NP_004042.1	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	291					adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|response to cadmium ion (GO:0046686)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to growth hormone (GO:0060416)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3-hydroxybutyrate dehydrogenase activity (GO:0003858)|phospholipid binding (GO:0005543)			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)		TCTGTGGAGCCACTGCTGCAG	0.577																																							uc003fxr.2		NA																	0				ovary(1)	1						c.(871-873)GGC>TGC		3-hydroxybutyrate dehydrogenase, type 1	NADH(DB00157)						200.0	168.0	179.0					3																	197238927		2203	4300	6503	SO:0001583	missense	622				cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity	g.chr3:197238927C>A	M93107	CCDS3328.1	3q29	2011-09-14	2005-11-15	2005-11-15	ENSG00000161267	ENSG00000161267	1.1.1.30	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	1027	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 9C, member 1"""	603063	"""3-hydroxybutyrate dehydrogenase (heart, mitochondrial)"""	BDH		1639787, 19027726	Standard	XM_005269352		Approved	SDR9C1	uc003fxs.3	Q02338	OTTHUMG00000155478	ENST00000392378.2:c.871G>T	3.37:g.197238927C>A	ENSP00000376183:p.Gly291Cys					BDH1_uc003fxs.2_Missense_Mutation_p.G291C|BDH1_uc003fxt.2_Missense_Mutation_p.G204C|BDH1_uc003fxu.2_Missense_Mutation_p.G291C	p.G291C	NM_203314	NP_976059	Q02338	BDH_HUMAN	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	8	1273	-	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	291					D3DXC0|Q96ET1|Q9BRZ4	Missense_Mutation	SNP	ENST00000392378.2	37	c.871G>T	CCDS3328.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.888699	0.72524	.	.	ENSG00000161267	ENST00000392378;ENST00000358186;ENST00000392379;ENST00000441275	D;D;D;D	0.93076	-3.16;-3.16;-3.16;-3.16	5.85	4.98	0.66077	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.91277	0.7250	L	0.39397	1.21	0.80722	D	1	P	0.45428	0.858	P	0.46479	0.518	D	0.90286	0.4319	10	0.37606	T	0.19	.	13.3654	0.60680	0.0:0.9237:0.0:0.0763	.	291	Q02338	BDH_HUMAN	C	291;291;291;204	ENSP00000376183:G291C;ENSP00000350914:G291C;ENSP00000376184:G291C;ENSP00000411014:G204C	ENSP00000350914:G291C	G	-	1	0	BDH1	198723324	1.000000	0.71417	0.976000	0.42696	0.947000	0.59692	6.088000	0.71371	1.631000	0.50456	0.655000	0.94253	GGC		0.577	BDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340267.1	NM_004051		32	100	1	0	2.05212e-20	0.005524	3.41713e-20	32	100				
ZNF595	152687	broad.mit.edu	37	4	59449	59449	+	Splice_Site	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:59449G>T	ENST00000509152.2	+	2	315	c.130G>T	c.(130-132)Ggt>Tgt	p.G44C	ZNF595_ENST00000526473.2_Splice_Site_p.G44C|ZNF595_ENST00000339368.6_3'UTR			Q8IYB9	ZN595_HUMAN	zinc finger protein 595	44	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		GGTCTCCCTGGGTGAGGATAA	0.413																																							uc003fzv.1		NA																	0					0						c.(130-132)GGT>TGT		zinc finger protein 595							350.0	381.0	370.0					4																	59449		2203	4300	6503	SO:0001630	splice_region_variant	152687				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr4:59449G>T	BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"""Zinc fingers, C2H2-type"", ""-"""	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000509152.2:c.130+1G>T	4.37:g.59449G>T						ZNF595_uc003fzu.1_RNA|ZNF718_uc003fzt.3_Missense_Mutation_p.G44C|ZNF595_uc010iay.1_RNA|ZNF595_uc011bus.1_5'UTR|ZNF595_uc011but.1_Intron	p.G44C	NM_182524	NP_872330	Q7Z3I0	Q7Z3I0_HUMAN		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)	2	286	+		all_cancers(4;0.0738)|all_epithelial(65;0.139)	44						Missense_Mutation	SNP	ENST00000509152.2	37	c.130G>T		.	.	.	.	.	.	.	.	.	.	G	14.72	2.618187	0.46736	.	.	ENSG00000197701	ENST00000509152;ENST00000526473	T;T	0.03004	4.08;4.08	1.26	1.26	0.21427	Krueppel-associated box (8);	.	.	.	.	T	0.13415	0.0325	.	.	.	0.34207	D	0.673799	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.13098	-1.0522	8	0.87932	D	0	.	7.9738	0.30143	0.0:0.0:1.0:0.0	.	44;44	Q8IYB9;Q3SXZ3	ZN595_HUMAN;ZN718_HUMAN	C	44	ENSP00000434858:G44C;ENSP00000437878:G44C	ENSP00000434858:G44C	G	+	1	0	ZNF595	49449	1.000000	0.71417	0.549000	0.28204	0.177000	0.22998	3.097000	0.50251	0.655000	0.30866	0.484000	0.47621	GGT		0.413	ZNF595-004	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000357817.2	NM_182524	Missense_Mutation	9	212	1	0	0.000978159	0.000978	0.00106403	9	212				
ZNF721	170960	broad.mit.edu	37	4	420315	420315	+	IGR	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:420315G>C	ENST00000506646.1	-	0	935				ABCA11P_ENST00000451020.2_RNA			Q8TF20	ZN721_HUMAN	zinc finger protein 721						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						GAGTTCTCCTGAGGGCAGTAC	0.493																																							uc003gae.2		NA																	0					0						c.(589-591)CTC>CTG		RecName: Full=Putative ATP-binding cassette sub-family A member 11;																																				SO:0001628	intergenic_variant	79963							g.chr4:420315G>C	AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20			4.37:g.420315G>C						ABCA11P_uc003gac.2_Silent_p.L146L|ABCA11P_uc003gad.2_RNA|ABCA11P_uc011buv.1_3'UTR|ABCA11P_uc010ibd.1_Silent_p.L197L	p.L197L							5	1126	-								Q69YG7	Silent	SNP	ENST00000506646.1	37	c.591C>G																																																																																					0.493	ZNF721-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000357869.2	NM_133474		16	39	0	0	0	0.00499	0	16	39				
SH3BP2	6452	broad.mit.edu	37	4	2826361	2826361	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:2826361G>A	ENST00000356331.5	+	4	522	c.261G>A	c.(259-261)gaG>gaA	p.E87E	SH3BP2_ENST00000442312.2_Silent_p.E115E|SH3BP2_ENST00000435136.2_Silent_p.E87E|SH3BP2_ENST00000503393.2_Silent_p.E144E|SH3BP2_ENST00000452765.2_Silent_p.E87E|SH3BP2_ENST00000511747.1_Silent_p.E87E	NM_003023.4	NP_003014.3	P78314	3BP2_HUMAN	SH3-domain binding protein 2	87	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)		SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		CGGCTGAGGAGACCACGTCCA	0.612									Cherubism																														uc003gfi.3		NA																	0				central_nervous_system(1)	1						c.(259-261)GAG>GAA		SH3-domain binding protein 2 isoform a							95.0	88.0	90.0					4																	2826361		2203	4300	6503	SO:0001819	synonymous_variant	6452	Cherubism	Familial Cancer Database	Familial Benign Giant-cell Tumor of the Jaw, Familial Multilocular Cystic Disease	signal transduction		SH3 domain binding|SH3/SH2 adaptor activity	g.chr4:2826361G>A	BC022996	CCDS33944.1, CCDS54715.1, CCDS54716.1	4p16.3	2013-02-14				ENSG00000087266		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	10825	protein-coding gene	gene with protein product		602104	"""Cherubism"""			9299232, 11381256	Standard	NM_003023		Approved	RES4-23, CRBM	uc003gfj.4	P78314		ENST00000356331.5:c.261G>A	4.37:g.2826361G>A						SH3BP2_uc010icn.2_Silent_p.E87E|SH3BP2_uc011bvp.1_Silent_p.E115E|SH3BP2_uc003gfj.3_Silent_p.E144E|SH3BP2_uc003gfk.3_Silent_p.E87E|SH3BP2_uc003gfl.3_Silent_p.E20E|SH3BP2_uc003gfm.3_5'Flank	p.E87E	NM_001122681	NP_001116153	P78314	3BP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.164)	4	381	+			87			PH.		A6NNC2|B2R5R6|B4DT04|D3DVR0|D6R919|O00500|O15373|P78315	Silent	SNP	ENST00000356331.5	37	c.261G>A	CCDS33944.1																																																																																				0.612	SH3BP2-007	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362406.2	NM_003023		22	34	0	0	0	0.004656	0	22	34				
NSG1	27065	broad.mit.edu	37	4	4393282	4393282	+	Silent	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:4393282C>G	ENST00000421177.2	+	7	2201	c.210C>G	c.(208-210)acC>acG	p.T70T	NSG1_ENST00000397958.1_Silent_p.T70T|NSG1_ENST00000513555.1_Silent_p.T70T|NSG1_ENST00000433139.2_Silent_p.T70T|NSG1_ENST00000505246.1_Silent_p.T70T|NSG1_ENST00000506380.1_Silent_p.T70T|NSG1_ENST00000504171.1_Intron			P42857	NSG1_HUMAN		70					clathrin coat assembly (GO:0048268)|dopamine receptor signaling pathway (GO:0007212)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)											CTGAGTTCACCGTCAGCATCA	0.532																																							uc011bvz.1		NA																	0				ovary(1)	1						c.(208-210)ACC>ACG		brain neuron cytoplasmic protein 1							128.0	108.0	115.0					4																	4393282		2203	4300	6503	SO:0001819	synonymous_variant	27065				dopamine receptor signaling pathway	Golgi membrane|integral to membrane|nucleus	dopamine receptor binding	g.chr4:4393282C>G																												ENST00000421177.2:c.210C>G	4.37:g.4393282C>G						D4S234E_uc011bwa.1_Intron|D4S234E_uc003ghz.2_Silent_p.T70T|D4S234E_uc003gia.2_Silent_p.T70T|D4S234E_uc003gib.2_Silent_p.T70T	p.T70T	NM_014392	NP_055207	P42857	NSG1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.166)	6	1491	+			70			Cytoplasmic (Potential).		B4DXC5|Q49AQ1	Silent	SNP	ENST00000421177.2	37	c.210C>G	CCDS3376.1																																																																																				0.532	NSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246799.1			7	33	0	0	0	0.001984	0	7	33				
EVC2	132884	broad.mit.edu	37	4	5624387	5624387	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:5624387C>A	ENST00000344408.5	-	14	2431	c.2378G>T	c.(2377-2379)gGg>gTg	p.G793V	EVC2_ENST00000344938.1_Missense_Mutation_p.G793V|EVC2_ENST00000310917.2_Missense_Mutation_p.G713V	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	793					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CCTCTCCTCCCCCTCCAGCTG	0.657																																							uc003gij.2		NA																	0				large_intestine(3)|ovary(2)	5						c.(2377-2379)GGG>GTG		limbin							69.0	49.0	56.0					4																	5624387		2203	4300	6503	SO:0001583	missense	132884					integral to membrane		g.chr4:5624387C>A	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.2378G>T	4.37:g.5624387C>A	ENSP00000342144:p.Gly793Val					EVC2_uc011bwb.1_Missense_Mutation_p.G233V|EVC2_uc003gik.2_Missense_Mutation_p.G713V	p.G793V	NM_147127	NP_667338	Q86UK5	LBN_HUMAN			14	2432	-			793			Potential.		Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	c.2378G>T	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	C	12.48	1.951464	0.34471	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.74737	-0.87;-0.86;-0.87	5.44	0.675	0.17952	.	0.106321	0.64402	D	0.000006	T	0.56411	0.1983	L	0.38175	1.15	0.25394	N	0.988506	P	0.35077	0.483	B	0.27887	0.084	T	0.46442	-0.9191	10	0.42905	T	0.14	-7.4161	7.744	0.28858	0.0:0.3688:0.3866:0.2446	.	793	Q86UK5	LBN_HUMAN	V	793;713;793	ENSP00000339954:G793V;ENSP00000311683:G713V;ENSP00000342144:G793V	ENSP00000311683:G713V	G	-	2	0	EVC2	5675288	0.120000	0.22244	0.378000	0.26068	0.860000	0.49131	0.258000	0.18387	0.003000	0.14656	0.462000	0.41574	GGG		0.657	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		10	36	1	0	5.50884e-06	0.001368	6.54807e-06	10	36				
JAKMIP1	152789	broad.mit.edu	37	4	6082016	6082016	+	Silent	SNP	C	C	T	rs150623866		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:6082016C>T	ENST00000282924.5	-	7	1610	c.1125G>A	c.(1123-1125)gcG>gcA	p.A375A	JAKMIP1_ENST00000409831.1_Silent_p.A375A|JAKMIP1_ENST00000409371.3_Silent_p.A210A|JAKMIP1_ENST00000409021.3_Silent_p.A375A|JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000410077.2_Silent_p.A210A	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	375	Mediates interaction with TYK2 and GABBR1.		A -> V (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCTTCAGAGACGCCTGCGCTG	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		19780	0.001		0.0	False		,,,				2504	0.0						uc003giu.3		NA																	0		p.A375V(1)		large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						c.(1123-1125)GCG>GCA		janus kinase and microtubule interacting protein		C	,	0,4406		0,0,2203	81.0	68.0	73.0		1125,1125	-3.3	0.1	4	dbSNP_134	73	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	JAKMIP1	NM_001099433.1,NM_144720.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	375/832,375/627	6082016	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	152789				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	g.chr4:6082016C>T	AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.1125G>A	4.37:g.6082016C>T						JAKMIP1_uc010idb.1_Silent_p.A375A|JAKMIP1_uc010idc.1_Silent_p.A210A|JAKMIP1_uc010idd.1_Silent_p.A375A|JAKMIP1_uc011bwc.1_Silent_p.A210A|JAKMIP1_uc003giv.3_Silent_p.A375A|JAKMIP1_uc010ide.2_Silent_p.A375A	p.A375A	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN			7	1401	-			375		A -> V (in a colorectal cancer sample; somatic mutation).	Mediates interaction with TYK2 and GABBR1.|Potential.		A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Silent	SNP	ENST00000282924.5	37	c.1125G>A	CCDS3385.1																																																																																				0.577	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2	NM_144720		8	27	0	0	0	0.006214	0	8	27				
CLNK	116449	broad.mit.edu	37	4	10566322	10566322	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:10566322G>T	ENST00000226951.6	-	7	611	c.372C>A	c.(370-372)acC>acA	p.T124T	CLNK_ENST00000442825.2_Silent_p.T82T|CLNK_ENST00000507719.1_Silent_p.T82T	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	124					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	intracellular (GO:0005622)	SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						GTGTGTTCCAGGTCGGCTGTC	0.463																																					GBM(87;402 1286 6949 13902 35851)	GBM(87;402 1286 6949 13902 35851)	uc003gmo.3		NA																	0				ovary(1)	1						c.(370-372)ACC>ACA		mast cell immunoreceptor signal transducer							190.0	181.0	184.0					4																	10566322		1988	4163	6151	SO:0001819	synonymous_variant	116449				immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity	g.chr4:10566322G>T	AB032369	CCDS47024.1	4p16.1	2013-02-14			ENSG00000109684	ENSG00000109684		"""SH2 domain containing"""	17438	protein-coding gene	gene with protein product	"""mast cell immunoreceptor signal transducer"""	611434				10562326, 10744659	Standard	NM_052964		Approved	MIST	uc003gmo.4	Q7Z7G1	OTTHUMG00000160062	ENST00000226951.6:c.372C>A	4.37:g.10566322G>T						CLNK_uc003gmp.2_Silent_p.T82T	p.T124T	NM_052964	NP_443196	Q7Z7G1	CLNK_HUMAN			7	509	-			124					Q05C27|Q9P2U9	Silent	SNP	ENST00000226951.6	37	c.372C>A	CCDS47024.1																																																																																				0.463	CLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359047.1	NM_052964		12	31	1	0	9.05144e-12	0.001855	1.30675e-11	12	31				
CLRN2	645104	broad.mit.edu	37	4	17516969	17516969	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:17516969C>G	ENST00000511148.2	+	1	182	c.80C>G	c.(79-81)gCc>gGc	p.A27G		NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	27						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						ATCATCGTTGCCCTGGTAGTG	0.542																																							uc003gpg.1		NA																	0					0						c.(79-81)GCC>GGC		clarin 2							117.0	122.0	120.0					4																	17516969		2066	4207	6273	SO:0001583	missense	645104					integral to membrane		g.chr4:17516969C>G		CCDS47032.1	4p15.32	2008-01-17			ENSG00000249581	ENSG00000249581			33939	protein-coding gene	gene with protein product						12080385	Standard	NM_001079827		Approved		uc003gpg.1	A0PK11	OTTHUMG00000160273	ENST00000511148.2:c.80C>G	4.37:g.17516969C>G	ENSP00000424711:p.Ala27Gly						p.A27G	NM_001079827	NP_001073296	A0PK11	CLRN2_HUMAN			1	182	+			27			Helical; (Potential).			Missense_Mutation	SNP	ENST00000511148.2	37	c.80C>G	CCDS47032.1	.	.	.	.	.	.	.	.	.	.	C	31	5.078597	0.94050	.	.	ENSG00000249581	ENST00000511148	D	0.91351	-2.83	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.94837	0.8332	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93859	0.7152	10	0.42905	T	0.14	-20.4725	19.3425	0.94349	0.0:1.0:0.0:0.0	.	27	A0PK11	CLRN2_HUMAN	G	27	ENSP00000424711:A27G	ENSP00000424711:A27G	A	+	2	0	CLRN2	17126067	1.000000	0.71417	0.837000	0.33122	0.981000	0.71138	6.876000	0.75556	2.668000	0.90789	0.655000	0.94253	GCC		0.542	CLRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359990.2	NM_001079827		9	39	0	0	0	0.006214	0	9	39				
CLRN2	645104	broad.mit.edu	37	4	17524522	17524522	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:17524522C>T	ENST00000511148.2	+	2	391	c.289C>T	c.(289-291)Ctt>Ttt	p.L97F		NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	97						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						CAACGCAGGCCTTCATGTGAT	0.532																																							uc003gpg.1		NA																	0					0						c.(289-291)CTT>TTT		clarin 2							146.0	153.0	150.0					4																	17524522		2121	4234	6355	SO:0001583	missense	645104					integral to membrane		g.chr4:17524522C>T		CCDS47032.1	4p15.32	2008-01-17			ENSG00000249581	ENSG00000249581			33939	protein-coding gene	gene with protein product						12080385	Standard	NM_001079827		Approved		uc003gpg.1	A0PK11	OTTHUMG00000160273	ENST00000511148.2:c.289C>T	4.37:g.17524522C>T	ENSP00000424711:p.Leu97Phe						p.L97F	NM_001079827	NP_001073296	A0PK11	CLRN2_HUMAN			2	391	+			97						Missense_Mutation	SNP	ENST00000511148.2	37	c.289C>T	CCDS47032.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.613286	0.87359	.	.	ENSG00000249581	ENST00000511148	D	0.81908	-1.55	4.94	4.94	0.65067	.	0.000000	0.64402	D	0.000001	D	0.89945	0.6862	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90784	0.4681	10	0.62326	D	0.03	-20.2803	17.7556	0.88447	0.0:1.0:0.0:0.0	.	97	A0PK11	CLRN2_HUMAN	F	97	ENSP00000424711:L97F	ENSP00000424711:L97F	L	+	1	0	CLRN2	17133620	1.000000	0.71417	0.978000	0.43139	0.965000	0.64279	6.740000	0.74832	2.300000	0.77407	0.467000	0.42956	CTT		0.532	CLRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359990.2	NM_001079827		38	130	0	0	0	0.00361	0	38	130				
CLRN2	645104	broad.mit.edu	37	4	17524644	17524644	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:17524644C>A	ENST00000511148.2	+	2	513	c.411C>A	c.(409-411)atC>atA	p.I137I		NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	137						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						CTGGGGGCATCTGCCTATGGA	0.557																																							uc003gpg.1		NA																	0					0						c.(409-411)ATC>ATA		clarin 2							41.0	45.0	44.0					4																	17524644		2139	4270	6409	SO:0001819	synonymous_variant	645104					integral to membrane		g.chr4:17524644C>A		CCDS47032.1	4p15.32	2008-01-17			ENSG00000249581	ENSG00000249581			33939	protein-coding gene	gene with protein product						12080385	Standard	NM_001079827		Approved		uc003gpg.1	A0PK11	OTTHUMG00000160273	ENST00000511148.2:c.411C>A	4.37:g.17524644C>A							p.I137I	NM_001079827	NP_001073296	A0PK11	CLRN2_HUMAN			2	513	+			137						Silent	SNP	ENST00000511148.2	37	c.411C>A	CCDS47032.1																																																																																				0.557	CLRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359990.2	NM_001079827		9	19	1	0	5.50884e-06	0.001368	6.54807e-06	9	19				
GBA3	57733	broad.mit.edu	37	4	22749107	22749107	+	RNA	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:22749107C>A	ENST00000503442.1	+	0	377				GBA3_ENST00000511446.2_RNA|GBA3_ENST00000508166.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TCGTGTCAAGCAGTGGATCAC	0.428																																							uc003gqp.3		NA																	0					0						c.(475-477)CAG>AAG		cytosolic beta-glucosidase isoform a							184.0	182.0	183.0					4																	22749107		1908	4128	6036			57733				glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	g.chr4:22749107C>A	AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"""klotho-related protein"""	606619	"""glucosidase, beta, acid 3 (cytosolic)"""			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22749107C>A						GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Missense_Mutation_p.Q160K	p.Q159K	NM_020973	NP_066024	Q9H227	GBA3_HUMAN			3	566	+			159					Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	Missense_Mutation	SNP	ENST00000503442.1	37	c.475C>A																																																																																					0.428	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2			6	44	1	0	3.59834e-05	0.001168	4.13823e-05	6	44				
GBA3	57733	broad.mit.edu	37	4	22749243	22749243	+	RNA	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:22749243C>G	ENST00000503442.1	+	0	377				GBA3_ENST00000511446.2_RNA|GBA3_ENST00000508166.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CATGCCAGATCCTGGCACAGC	0.453																																							uc003gqp.3		NA																	0					0						c.(610-612)TCC>TGC		cytosolic beta-glucosidase isoform a							153.0	151.0	151.0					4																	22749243		1881	4100	5981			57733				glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	g.chr4:22749243C>G	AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"""klotho-related protein"""	606619	"""glucosidase, beta, acid 3 (cytosolic)"""			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22749243C>G						GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Missense_Mutation_p.S205C	p.S204C	NM_020973	NP_066024	Q9H227	GBA3_HUMAN			3	702	+			204					Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	Missense_Mutation	SNP	ENST00000503442.1	37	c.611C>G																																																																																					0.453	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2			25	75	0	0	0	0.00632	0	25	75				
ANAPC4	29945	broad.mit.edu	37	4	25391839	25391839	+	Silent	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:25391839A>T	ENST00000315368.3	+	8	739	c.597A>T	c.(595-597)acA>acT	p.T199T	ANAPC4_ENST00000510092.1_Silent_p.T199T	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	199					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				CTCGAGTCACAGGGGTAAGAT	0.308																																							uc003gro.2		NA																	0				ovary(2)|large_intestine(1)|pancreas(1)|skin(1)	5						c.(595-597)ACA>ACT		anaphase-promoting complex subunit 4							131.0	128.0	129.0					4																	25391839		2203	4300	6503	SO:0001819	synonymous_variant	29945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr4:25391839A>T	AF191338	CCDS3434.1, CCDS68684.1	4p15.31	2011-06-15			ENSG00000053900	ENSG00000053900		"""Anaphase promoting complex subunits"""	19990	protein-coding gene	gene with protein product		606947				6180011	Standard	NM_013367		Approved	APC4	uc003gro.3	Q9UJX5	OTTHUMG00000097753	ENST00000315368.3:c.597A>T	4.37:g.25391839A>T						ANAPC4_uc003grp.2_Silent_p.T84T|ANAPC4_uc010iet.1_Silent_p.T8T|ANAPC4_uc010ieu.1_Silent_p.T8T	p.T199T	NM_013367	NP_037499	Q9UJX5	APC4_HUMAN			8	726	+		Breast(46;0.0503)	199					A8K8H1|E9PCR4|Q6PCC6|Q9NSH6	Silent	SNP	ENST00000315368.3	37	c.597A>T	CCDS3434.1																																																																																				0.308	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214986.1	NM_013367		3	48	0	0	0	0.004672	0	3	48				
SEL1L3	23231	broad.mit.edu	37	4	25835118	25835118	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:25835118C>G	ENST00000399878.3	-	4	1056	c.934G>C	c.(934-936)Gac>Cac	p.D312H	SEL1L3_ENST00000513364.1_5'UTR|SEL1L3_ENST00000264868.5_Missense_Mutation_p.D277H|SEL1L3_ENST00000502949.1_Missense_Mutation_p.D159H	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	312						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TCATTAGAGTCAACAAAGTAC	0.368																																							uc003gru.3		NA																	0					0						c.(934-936)GAC>CAC		sel-1 suppressor of lin-12-like 3							78.0	71.0	73.0					4																	25835118		1863	4101	5964	SO:0001583	missense	23231					integral to membrane	binding	g.chr4:25835118C>G	BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"""KIAA0746 protein"""					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.934G>C	4.37:g.25835118C>G	ENSP00000382767:p.Asp312His						p.D312H	NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN			4	1086	-			312					A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	ENST00000399878.3	37	c.934G>C	CCDS47037.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.004436	0.74932	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949	T;T;T	0.16196	2.36;2.36;2.36	6.06	6.06	0.98353	.	0.044457	0.85682	D	0.000000	T	0.41858	0.1177	M	0.64997	1.995	0.45541	D	0.998491	D	0.89917	1.0	D	0.85130	0.997	T	0.06267	-1.0836	10	0.72032	D	0.01	-30.8721	17.5376	0.87837	0.0:1.0:0.0:0.0	.	312	Q68CR1	SE1L3_HUMAN	H	312;277;159	ENSP00000382767:D312H;ENSP00000264868:D277H;ENSP00000425438:D159H	ENSP00000264868:D277H	D	-	1	0	SEL1L3	25444216	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.413000	0.59795	2.882000	0.98803	0.655000	0.94253	GAC		0.368	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187		5	34	0	0	0	0.001168	0	5	34				
ARAP2	116984	broad.mit.edu	37	4	36160403	36160403	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:36160403G>A	ENST00000303965.4	-	15	3190	c.2701C>T	c.(2701-2703)Caa>Taa	p.Q901*		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	901	PH 3. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						GAAGGAGCTTGATATAAAAAG	0.333																																							uc003gsq.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(2701-2703)CAA>TAA		ArfGAP with RhoGAP domain, ankyrin repeat and PH							40.0	44.0	43.0					4																	36160403		2203	4299	6502	SO:0001587	stop_gained	116984				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	g.chr4:36160403G>A	AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.2701C>T	4.37:g.36160403G>A	ENSP00000302895:p.Gln901*						p.Q901*	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN			15	3039	-			901			PH 3.		Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Nonsense_Mutation	SNP	ENST00000303965.4	37	c.2701C>T	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	G	44	10.939737	0.99492	.	.	ENSG00000047365	ENST00000303965	.	.	.	6.17	6.17	0.99709	.	0.352338	0.31031	N	0.008395	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.5125	0.61522	0.0:0.0:0.8069:0.193	.	.	.	.	X	901	.	ENSP00000302895:Q901X	Q	-	1	0	ARAP2	35836798	0.920000	0.31207	0.992000	0.48379	0.311000	0.27955	1.540000	0.36115	2.941000	0.99782	0.655000	0.94253	CAA		0.333	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		4	23	0	0	0	0.009096	0	4	23				
TLR1	7096	broad.mit.edu	37	4	38799406	38799406	+	Silent	SNP	C	C	A	rs375416156		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:38799406C>A	ENST00000502213.2	-	3	1276	c.1047G>T	c.(1045-1047)ccG>ccT	p.P349P	TLR1_ENST00000308979.2_Silent_p.P349P			Q15399	TLR1_HUMAN	toll-like receptor 1	349					cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						AATGCAGGAACGGGCTAATTT	0.363																																					GBM(5;216 373 40795 46382)	GBM(5;216 373 40795 46382)	uc003gtl.2		NA																	0				lung(2)|skin(2)|prostate(1)	5						c.(1045-1047)CCG>CCT		toll-like receptor 1 precursor							57.0	59.0	58.0					4																	38799406		2203	4300	6503	SO:0001819	synonymous_variant	7096				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity	g.chr4:38799406C>A	U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"""CD molecules"""	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.1047G>T	4.37:g.38799406C>A							p.P349P	NM_003263	NP_003254	Q15399	TLR1_HUMAN			4	1321	-			349			Extracellular (Potential).		D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Silent	SNP	ENST00000502213.2	37	c.1047G>T	CCDS33973.1																																																																																				0.363	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360510.3			9	27	1	0	4.3838e-07	0.001855	5.45499e-07	9	27				
KLB	152831	broad.mit.edu	37	4	39436334	39436334	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:39436334C>T	ENST00000257408.4	+	2	1427	c.1330C>T	c.(1330-1332)Ctt>Ttt	p.L444F		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	444	Glycosyl hydrolase-1 1.				carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						CAGCCAGGTGCTTCAAGGTTG	0.373																																							uc003gua.2		NA																	0				skin(1)	1						c.(1330-1332)CTT>TTT		klotho beta							40.0	40.0	40.0					4																	39436334		2203	4300	6503	SO:0001583	missense	152831				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr4:39436334C>T	AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.1330C>T	4.37:g.39436334C>T	ENSP00000257408:p.Leu444Phe					KLB_uc011byj.1_Missense_Mutation_p.L444F	p.L444F	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN			2	1427	+			444			Extracellular (Potential).|Glycosyl hydrolase-1 1.		Q2M3K8	Missense_Mutation	SNP	ENST00000257408.4	37	c.1330C>T	CCDS3451.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002286	0.74932	.	.	ENSG00000134962	ENST00000257408	T	0.34472	1.36	6.06	6.06	0.98353	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.61837	0.2379	M	0.82517	2.595	0.50632	D	0.999885	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.65619	-0.6124	10	0.87932	D	0	-17.3574	11.5019	0.50444	0.0:0.8936:0.0:0.1064	.	444;444	B7ZL50;Q86Z14	.;KLOTB_HUMAN	F	444	ENSP00000257408:L444F	ENSP00000257408:L444F	L	+	1	0	KLB	39112729	0.997000	0.39634	0.996000	0.52242	0.967000	0.64934	2.509000	0.45459	2.871000	0.98454	0.655000	0.94253	CTT		0.373	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250429.1	NM_175737		4	22	0	0	0	0.000602	0	4	22				
DCAF4L1	285429	broad.mit.edu	37	4	41984291	41984291	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:41984291C>A	ENST00000333141.5	+	1	579	c.482C>A	c.(481-483)gCg>gAg	p.A161E		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	161										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						CTGCTCCCAGCGTCGCGGTTC	0.572																																							uc003gwk.2		NA																	0				skin(1)	1						c.(481-483)GCG>GAG		WD repeat domain 21B							93.0	88.0	90.0					4																	41984291		2203	4300	6503	SO:0001583	missense	285429							g.chr4:41984291C>A	BC035027	CCDS33978.1	4p13	2013-01-09	2009-07-17	2009-07-17		ENSG00000182308		"""WD repeat domain containing"""	27723	protein-coding gene	gene with protein product			"""WD repeat domain 21B"""	WDR21B			Standard	NM_001029955		Approved		uc003gwk.2	Q3SXM0		ENST00000333141.5:c.482C>A	4.37:g.41984291C>A	ENSP00000327796:p.Ala161Glu						p.A161E	NM_001029955	NP_001025126	Q3SXM0	DC4L1_HUMAN			1	579	+			161					B3KVI3|Q3ZCW8|Q499Y5|Q9UFI0	Missense_Mutation	SNP	ENST00000333141.5	37	c.482C>A	CCDS33978.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.547623	0.45383	.	.	ENSG00000182308	ENST00000333141	T	0.69806	-0.43	0.688	-1.02	0.10135	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.046311	0.85682	D	0.000000	T	0.69548	0.3123	M	0.72894	2.215	0.36827	D	0.886702	D	0.53745	0.962	P	0.53450	0.726	T	0.71764	-0.4494	9	0.87932	D	0	.	.	.	.	.	161	Q3SXM0	DC4L1_HUMAN	E	161	ENSP00000327796:A161E	ENSP00000327796:A161E	A	+	2	0	DCAF4L1	41679048	0.994000	0.37717	0.177000	0.23020	0.190000	0.23558	3.170000	0.50816	-0.369000	0.08028	0.313000	0.20887	GCG		0.572	DCAF4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360958.1	NM_001029955		14	53	1	0	1.15088e-07	0.004007	1.4602e-07	14	53				
GABRG1	2565	broad.mit.edu	37	4	46043194	46043194	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:46043194C>A	ENST00000295452.4	-	9	1376	c.1209G>T	c.(1207-1209)ggG>ggT	p.G403G		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	403			G -> E (in dbSNP:rs17852913). {ECO:0000269|PubMed:15489334}.		gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AACACTGATACCCATAATCAT	0.428																																							uc003gxb.2		NA																	0				ovary(2)	2						c.(1207-1209)GGG>GGT		gamma-aminobutyric acid A receptor, gamma 1							99.0	100.0	100.0					4																	46043194		2203	4300	6503	SO:0001819	synonymous_variant	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46043194C>A	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.1209G>T	4.37:g.46043194C>A							p.G403G	NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	9	1361	-			403			Cytoplasmic (Probable).		Q5H9T8	Silent	SNP	ENST00000295452.4	37	c.1209G>T	CCDS3470.1																																																																																				0.428	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		14	41	1	0	4.7546e-09	0.004007	6.35229e-09	14	41				
GABRA4	2557	broad.mit.edu	37	4	46930629	46930629	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:46930629C>A	ENST00000264318.3	-	9	2260	c.1278G>T	c.(1276-1278)cgG>cgT	p.R426R		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	426					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	CTAAGTAAGACCGAGGTGTGC	0.458																																					Ovarian(6;283 369 8234 12290 33402)	Ovarian(6;283 369 8234 12290 33402)	uc003gxg.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4						c.(1276-1278)CGG>CGT		gamma-aminobutyric acid A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						118.0	111.0	114.0					4																	46930629		2203	4300	6503	SO:0001819	synonymous_variant	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46930629C>A		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.1278G>T	4.37:g.46930629C>A							p.R426R	NM_000809	NP_000800	P48169	GBRA4_HUMAN			9	1417	-			426			Cytoplasmic (Probable).		Q8IYR7	Silent	SNP	ENST00000264318.3	37	c.1278G>T	CCDS3473.1																																																																																				0.458	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			10	45	1	0	2.23348e-06	0.004007	2.71339e-06	10	45				
GABRA4	2557	broad.mit.edu	37	4	46976356	46976356	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:46976356G>T	ENST00000264318.3	-	6	1596	c.614C>A	c.(613-615)aCa>aAa	p.T205K		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	205					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	AGGACCTTTTGTCCAGGTATA	0.408																																					Ovarian(6;283 369 8234 12290 33402)	Ovarian(6;283 369 8234 12290 33402)	uc003gxg.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4						c.(613-615)ACA>AAA		gamma-aminobutyric acid A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						109.0	101.0	104.0					4																	46976356		2203	4300	6503	SO:0001583	missense	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46976356G>T		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.614C>A	4.37:g.46976356G>T	ENSP00000264318:p.Thr205Lys						p.T205K	NM_000809	NP_000800	P48169	GBRA4_HUMAN			6	753	-			205			Extracellular (Probable).		Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	c.614C>A	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	G	7.758	0.704841	0.15172	.	.	ENSG00000109158	ENST00000264318	T	0.78126	-1.15	5.25	5.25	0.73442	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	T	0.55162	0.1903	N	0.05280	-0.08	0.58432	D	0.999992	B	0.19073	0.033	B	0.25291	0.059	T	0.53781	-0.8390	10	0.05351	T	0.99	.	13.0195	0.58777	0.0:0.0:0.8391:0.1609	.	205	P48169	GBRA4_HUMAN	K	205	ENSP00000264318:T205K	ENSP00000264318:T205K	T	-	2	0	GABRA4	46671113	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	4.504000	0.60414	2.727000	0.93392	0.650000	0.86243	ACA		0.408	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			9	36	1	0	0.000274275	0.004482	0.000304364	9	36				
ATP10D	57205	broad.mit.edu	37	4	47589211	47589211	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:47589211C>G	ENST00000273859.3	+	22	4198	c.3929C>G	c.(3928-3930)gCt>gGt	p.A1310G		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1310					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|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)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						ACGTCCATTGCTCTTCTGCCC	0.418																																							uc003gxk.1		NA																	0				ovary(2)|pancreas(1)	3						c.(3928-3930)GCT>GGT		ATPase, class V, type 10D							191.0	170.0	177.0					4																	47589211		2203	4300	6503	SO:0001583	missense	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47589211C>G	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.3929C>G	4.37:g.47589211C>G	ENSP00000273859:p.Ala1310Gly					ATP10D_uc003gxl.1_Missense_Mutation_p.A558G	p.A1310G	NM_020453	NP_065186	Q9P241	AT10D_HUMAN			22	4093	+			1310			Helical; (Potential).		A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	c.3929C>G	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.271864	0.80469	.	.	ENSG00000145246	ENST00000273859	T	0.47177	0.85	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.67822	0.2934	M	0.75777	2.31	0.80722	D	1	D	0.69078	0.997	D	0.66196	0.942	T	0.70114	-0.4961	10	0.54805	T	0.06	-8.9775	17.498	0.87724	0.0:1.0:0.0:0.0	.	1310	Q9P241	AT10D_HUMAN	G	1310	ENSP00000273859:A1310G	ENSP00000273859:A1310G	A	+	2	0	ATP10D	47283968	1.000000	0.71417	0.970000	0.41538	0.720000	0.41350	7.542000	0.82095	2.618000	0.88619	0.591000	0.81541	GCT		0.418	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		15	44	0	0	0	0.006122	0	15	44				
TEC	7006	broad.mit.edu	37	4	48147115	48147115	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:48147115C>A	ENST00000381501.3	-	14	1608	c.1451G>T	c.(1450-1452)aGc>aTc	p.S484I	TEC_ENST00000511471.2_5'UTR	NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	484	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell receptor signaling pathway (GO:0050853)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of platelet activation (GO:0010543)|tissue regeneration (GO:0042246)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						GTGGATGAAGCTGTTTCTCTC	0.458																																							uc003gxz.2		NA																	0				lung(4)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)	9						c.(1450-1452)AGC>ATC		tec protein tyrosine kinase							192.0	167.0	176.0					4																	48147115		2203	4300	6503	SO:0001583	missense	7006				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr4:48147115C>A	D29767	CCDS3481.1	4p12	2013-02-14			ENSG00000135605	ENSG00000135605		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	11719	protein-coding gene	gene with protein product		600583				7934162	Standard	NM_003215		Approved	PSCTK4	uc003gxz.3	P42680	OTTHUMG00000128623	ENST00000381501.3:c.1451G>T	4.37:g.48147115C>A	ENSP00000370912:p.Ser484Ile						p.S484I	NM_003215	NP_003206	P42680	TEC_HUMAN			14	1542	-			484			Protein kinase.		B7ZKZ6|Q3MIS5	Missense_Mutation	SNP	ENST00000381501.3	37	c.1451G>T	CCDS3481.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.260642	0.59431	.	.	ENSG00000135605	ENST00000381501	T	0.62941	-0.01	5.61	5.61	0.85477	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.110215	0.64402	D	0.000003	T	0.70762	0.3261	L	0.58302	1.8	0.38369	D	0.944836	D	0.56521	0.976	P	0.56823	0.807	T	0.75929	-0.3144	10	0.87932	D	0	.	12.9085	0.58166	0.0:0.9259:0.0:0.0741	.	484	P42680	TEC_HUMAN	I	484	ENSP00000370912:S484I	ENSP00000370912:S484I	S	-	2	0	TEC	47841872	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.476000	0.45171	2.663000	0.90544	0.491000	0.48974	AGC		0.458	TEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250492.3			14	93	1	0	0.000422831	0.004007	0.000467125	14	93				
FRYL	285527	broad.mit.edu	37	4	48503687	48503687	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:48503687A>G	ENST00000503238.1	-	59	8544	c.8545T>C	c.(8545-8547)Tac>Cac	p.Y2849H	FRYL_ENST00000264319.7_Missense_Mutation_p.Y239H|FRYL_ENST00000507873.2_Missense_Mutation_p.Y239H|FRYL_ENST00000537810.1_Missense_Mutation_p.Y2849H|FRYL_ENST00000358350.4_Missense_Mutation_p.Y2849H			O94915	FRYL_HUMAN	FRY-like	2849					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AGTTTACAGTAGGCCTGGAAC	0.299																																							uc003gyh.1		NA																	0				skin(1)	1						c.(8545-8547)TAC>CAC		furry-like							176.0	171.0	173.0					4																	48503687		1809	4077	5886	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48503687A>G	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.8545T>C	4.37:g.48503687A>G	ENSP00000426064:p.Tyr2849His					FRYL_uc003gye.1_Missense_Mutation_p.Y31H|FRYL_uc003gyf.1_Missense_Mutation_p.Y239H|FRYL_uc003gyg.1_Missense_Mutation_p.Y1539H	p.Y2849H	NM_015030	NP_055845	O94915	FRYL_HUMAN			62	9150	-			2849					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.8545T>C	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.258265	0.80246	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000264319;ENST00000507873	T;T;T	0.25749	1.78;1.78;1.78	5.45	5.45	0.79879	.	0.000000	0.64402	U	0.000004	T	0.53433	0.1796	M	0.81802	2.56	0.80722	D	1	D;D;B	0.89917	0.999;1.0;0.002	D;D;B	0.91635	0.998;0.999;0.015	T	0.54721	-0.8251	10	0.40728	T	0.16	.	15.8152	0.78595	1.0:0.0:0.0:0.0	.	2849;2849;239	O94915;F5GX82;O94915-2	FRYL_HUMAN;.;.	H	2849;2849;2849;239;239	ENSP00000426064:Y2849H;ENSP00000351113:Y2849H;ENSP00000441114:Y2849H	ENSP00000264319:Y239H	Y	-	1	0	FRYL	48198444	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.673000	0.91186	2.196000	0.70406	0.397000	0.26171	TAC		0.299	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			24	122	0	0	0	0.002096	0	24	122				
LRRC66	339977	broad.mit.edu	37	4	52863992	52863992	+	Missense_Mutation	SNP	C	C	G	rs532972831		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:52863992C>G	ENST00000343457.3	-	3	784	c.778G>C	c.(778-780)Gat>Cat	p.D260H		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	260						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GCCACACTATCATCACACTGC	0.393																																							uc003gzi.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(778-780)GAT>CAT		leucine rich repeat containing 66							201.0	189.0	193.0					4																	52863992		1918	4133	6051	SO:0001583	missense	339977					integral to membrane		g.chr4:52863992C>G	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.778G>C	4.37:g.52863992C>G	ENSP00000341944:p.Asp260His						p.D260H	NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN			3	791	-			260						Missense_Mutation	SNP	ENST00000343457.3	37	c.778G>C	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	C	1.099	-0.661722	0.03454	.	.	ENSG00000188993	ENST00000343457	T	0.52057	0.68	5.13	-10.3	0.00346	.	2.147070	0.01887	N	0.038260	T	0.19208	0.0461	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.15694	-1.0428	10	0.13853	T	0.58	3.112	3.3447	0.07131	0.1087:0.4933:0.1987:0.1994	.	260	Q68CR7	LRC66_HUMAN	H	260	ENSP00000341944:D260H	ENSP00000341944:D260H	D	-	1	0	LRRC66	52558749	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.333000	0.07894	-3.604000	0.00133	-0.982000	0.02568	GAT		0.393	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		49	114	0	0	0	0.00361	0	49	114				
PDGFRA	5156	broad.mit.edu	37	4	55156608	55156608	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:55156608G>T	ENST00000257290.5	+	22	3340	c.3009G>T	c.(3007-3009)tgG>tgT	p.W1003C	FIP1L1_ENST00000507166.1_Missense_Mutation_p.W763C	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	1003					adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	TGAAGGACTGGGAGGGTGGTC	0.542			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	Pancreas(151;208 1913 7310 23853 37092)	uc003han.3		NA		Dom	yes		4	4q11-q13	5156	Mis|O|T	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		GIST|idiopathic hypereosinophilic syndrome		0				soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674						c.(3007-3009)TGG>TGT		platelet-derived growth factor receptor alpha	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						194.0	165.0	175.0					4																	55156608		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55156608G>T	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.3009G>T	4.37:g.55156608G>T	ENSP00000257290:p.Trp1003Cys	TSP Lung(21;0.16)				PDGFRA_uc003haa.2_Missense_Mutation_p.W763C	p.W1003C	NM_006206	NP_006197	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		22	3340	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		1003			Cytoplasmic (Potential).		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.3009G>T	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.737057	0.49045	.	.	ENSG00000145216;ENSG00000134853	ENST00000507166;ENST00000257290	T;T	0.77358	-1.09;-0.91	5.92	5.92	0.95590	.	0.000000	0.30538	U	0.009404	T	0.60919	0.2306	N	0.08118	0	0.80722	D	1	D	0.59357	0.985	B	0.43754	0.43	T	0.64441	-0.6407	10	0.38643	T	0.18	.	11.6157	0.51088	0.137:0.0:0.863:0.0	.	1003	P16234	PGFRA_HUMAN	C	763;1003	ENSP00000423325:W763C;ENSP00000257290:W1003C	ENSP00000423325:W763C	W	+	3	0	FIP1L1;PDGFRA	54851365	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	1.539000	0.36104	2.809000	0.96659	0.557000	0.71058	TGG		0.542	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		34	63	1	0	2.40579e-17	0.00623	3.89272e-17	34	63				
PDCL2	132954	broad.mit.edu	37	4	56428761	56428761	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:56428761C>G	ENST00000295645.4	-	5	483	c.381G>C	c.(379-381)ttG>ttC	p.L127F		NM_152401.2	NP_689614.2	Q8N4E4	PDCL2_HUMAN	phosducin-like 2	127	Thioredoxin fold. {ECO:0000250}.									endometrium(1)|kidney(1)|lung(4)|ovary(1)	7	Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669)			GCTGGTTAACCAACAAACACA	0.343																																							uc003hbb.2		NA																	0					0						c.(379-381)TTG>TTC		phosducin-like 2							39.0	36.0	37.0					4																	56428761		1824	4078	5902	SO:0001583	missense	132954							g.chr4:56428761C>G	BC034431	CCDS47059.1	4q12	2008-02-05			ENSG00000163440	ENSG00000163440			29524	protein-coding gene	gene with protein product		611676				12424248	Standard	NM_152401		Approved	GCPHLP	uc003hbb.3	Q8N4E4	OTTHUMG00000160674	ENST00000295645.4:c.381G>C	4.37:g.56428761C>G	ENSP00000295645:p.Leu127Phe						p.L127F	NM_152401	NP_689614	Q8N4E4	PDCL2_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669)		5	484	-	Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101)		127					A8MWA2|B9ZVQ9	Missense_Mutation	SNP	ENST00000295645.4	37	c.381G>C	CCDS47059.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.491481	0.64074	.	.	ENSG00000163440	ENST00000295645	T	0.42900	0.96	5.73	5.73	0.89815	Phosducin, thioredoxin-like domain (1);Thioredoxin-like fold (2);	0.124867	0.36409	N	0.002612	T	0.67869	0.2939	M	0.88704	2.975	0.54753	D	0.999984	D	0.63046	0.992	D	0.68039	0.955	T	0.73329	-0.4017	10	0.72032	D	0.01	-30.1245	13.1435	0.59448	0.0:0.9269:0.0:0.0731	.	127	Q8N4E4	PDCL2_HUMAN	F	127	ENSP00000295645:L127F	ENSP00000295645:L127F	L	-	3	2	PDCL2	56123518	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.654000	0.24918	2.710000	0.92621	0.491000	0.48974	TTG		0.343	PDCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361659.1	NM_152401		3	13	0	0	0	0.000602	0	3	13				
KIAA1211	57482	broad.mit.edu	37	4	57182568	57182568	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:57182568C>T	ENST00000504228.1	+	6	3005	c.2900C>T	c.(2899-2901)cCc>cTc	p.P967L	KIAA1211_ENST00000264229.6_Missense_Mutation_p.P967L|KIAA1211_ENST00000541073.1_Missense_Mutation_p.P960L			Q6ZU35	K1211_HUMAN	KIAA1211	967	Pro-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GCTCCCAAGCCCACCAGTCAG	0.647																																							uc003hbk.2		NA																	0				ovary(1)|skin(1)	2						c.(2899-2901)CCC>CTC		hypothetical protein LOC57482							46.0	60.0	55.0					4																	57182568		2061	4209	6270	SO:0001583	missense	57482							g.chr4:57182568C>T	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.2900C>T	4.37:g.57182568C>T	ENSP00000423366:p.Pro967Leu					KIAA1211_uc010iha.2_Missense_Mutation_p.P960L|KIAA1211_uc011bzz.1_Missense_Mutation_p.P877L|KIAA1211_uc003hbm.1_Missense_Mutation_p.P853L	p.P967L	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN			8	3291	+	Glioma(25;0.08)|all_neural(26;0.101)		967			Pro-rich.		Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	c.2900C>T	CCDS43230.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.10|14.10	2.436034|2.436034	0.43224|0.43224	.|.	.|.	ENSG00000109265|ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073|ENST00000546221	T;T;T|.	0.78126|.	-1.15;-1.15;-1.15|.	5.59|5.59	4.73|4.73	0.59995|0.59995	.|.	.|.	.|.	.|.	.|.	T|T	0.67468|0.67468	0.2896|0.2896	L|L	0.54323|0.54323	1.7|1.7	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D|.	0.61697|.	0.99;0.976;0.976|.	P;P;P|.	0.52424|.	0.698;0.698;0.698|.	T|T	0.63633|0.63633	-0.6593|-0.6593	9|6	0.52906|0.25106	T|T	0.07|0.35	-20.9414|-20.9414	15.686|15.686	0.77411|0.77411	0.1381:0.8619:0.0:0.0|0.1381:0.8619:0.0:0.0	.|.	960;960;967|.	B7ZVZ4;F5H1N7;Q6ZU35|.	.;.;K1211_HUMAN|.	L|S	967;967;960|856	ENSP00000264229:P967L;ENSP00000423366:P967L;ENSP00000444006:P960L|.	ENSP00000264229:P967L|ENSP00000446248:P856S	P|P	+|+	2|1	0|0	KIAA1211|KIAA1211	56877325|56877325	0.998000|0.998000	0.40836|0.40836	0.576000|0.576000	0.28549|0.28549	0.005000|0.005000	0.04900|0.04900	5.137000|5.137000	0.64789|0.64789	1.318000|1.318000	0.45170|0.45170	0.561000|0.561000	0.74099|0.74099	CCC|CCA		0.647	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		7	17	0	0	0	0.004482	0	7	17				
SRP72	6731	broad.mit.edu	37	4	57340325	57340325	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:57340325G>C	ENST00000342756.5	+	4	1181	c.460G>C	c.(460-462)Gtt>Ctt	p.V154L	SRP72_ENST00000504757.1_Missense_Mutation_p.V154L|SRP72_ENST00000510663.1_Missense_Mutation_p.V154L	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	154					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					CCTTTCAGCAGTTGTTGCAGC	0.393																																							uc003hbv.2		NA																	0				ovary(1)	1						c.(460-462)GTT>CTT		signal recognition particle 72kDa							113.0	108.0	110.0					4																	57340325		2203	4300	6503	SO:0001583	missense	6731				response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding	g.chr4:57340325G>C	AF069765	CCDS3506.1, CCDS58898.1	4q11	2013-01-10	2002-08-29		ENSG00000174780	ENSG00000174780		"""Tetratricopeptide (TTC) repeat domain containing"""	11303	protein-coding gene	gene with protein product		602122	"""signal recognition particle 72kD"""			9224693, 9857079	Standard	NM_006947		Approved		uc003hbv.3	O76094	OTTHUMG00000128843	ENST00000342756.5:c.460G>C	4.37:g.57340325G>C	ENSP00000342181:p.Val154Leu					SRP72_uc010ihe.2_Missense_Mutation_p.V154L|SRP72_uc003hbw.1_5'UTR	p.V154L	NM_006947	NP_008878	O76094	SRP72_HUMAN			4	500	+	Glioma(25;0.08)|all_neural(26;0.101)		154					G5E9Z8|Q7Z3C0	Missense_Mutation	SNP	ENST00000342756.5	37	c.460G>C	CCDS3506.1	.	.	.	.	.	.	.	.	.	.	G	32	5.188001	0.94923	.	.	ENSG00000174780	ENST00000342756;ENST00000537129;ENST00000510663	T;T	0.76060	-0.99;-0.99	5.35	5.35	0.76521	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.84511	0.5488	M	0.67700	2.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.83257	-0.0050	10	0.36615	T	0.2	.	16.5679	0.84603	0.0:0.0:1.0:0.0	.	154;154	G5E9Z8;O76094	.;SRP72_HUMAN	L	154;160;154	ENSP00000342181:V154L;ENSP00000424576:V154L	ENSP00000342181:V154L	V	+	1	0	SRP72	57035082	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.500000	0.84329	0.650000	0.86243	GTT		0.393	SRP72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250782.7			6	26	0	0	0	0.001984	0	6	26				
LPHN3	23284	broad.mit.edu	37	4	62758597	62758597	+	Silent	SNP	T	T	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:62758597T>G	ENST00000514591.1	+	9	1829	c.1500T>G	c.(1498-1500)gcT>gcG	p.A500A	LPHN3_ENST00000512091.2_Silent_p.A500A|LPHN3_ENST00000504896.1_Silent_p.A500A|LPHN3_ENST00000506720.1_Silent_p.A568A|LPHN3_ENST00000511324.1_Silent_p.A568A|LPHN3_ENST00000508693.1_Silent_p.A568A|LPHN3_ENST00000507164.1_Silent_p.A568A|LPHN3_ENST00000514996.1_Silent_p.A500A|LPHN3_ENST00000508946.1_Silent_p.A500A|LPHN3_ENST00000545650.1_Silent_p.A500A|LPHN3_ENST00000514157.1_Silent_p.A500A|LPHN3_ENST00000506746.1_Silent_p.A568A|LPHN3_ENST00000506700.1_Silent_p.A500A|LPHN3_ENST00000509896.1_Silent_p.A568A|LPHN3_ENST00000507625.1_Silent_p.A568A			Q9HAR2	LPHN3_HUMAN	latrophilin 3	500					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GCTGTGAGGCTGTGGAAGCCC	0.507																																							uc010ihh.2		NA																	0				lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(1498-1500)GCT>GCG		latrophilin 3 precursor							69.0	66.0	67.0					4																	62758597		1936	4139	6075	SO:0001819	synonymous_variant	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62758597T>G	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.1500T>G	4.37:g.62758597T>G						LPHN3_uc003hcq.3_Silent_p.A500A|LPHN3_uc003hcs.1_Silent_p.A329A	p.A500A	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			7	1673	+			500			Extracellular (Potential).		E9PE04|O94867|Q9NWK5	Silent	SNP	ENST00000514591.1	37	c.1500T>G	CCDS54768.1																																																																																				0.507	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			4	8	0	0	0	0.009096	0	4	8				
TECRL	253017	broad.mit.edu	37	4	65147211	65147211	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:65147211C>T	ENST00000381210.3	-	10	1009	c.899G>A	c.(898-900)tGt>tAt	p.C300Y	TECRL_ENST00000507440.1_Missense_Mutation_p.C300Y	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	300					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)	p.C300fs*2(1)		endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						GTAGTTAGGACATGAAACCAG	0.323																																							uc003hcv.2		NA																	1	Deletion - Frameshift(1)		lung(1)		0						c.(898-900)TGT>TAT		steroid 5 alpha-reductase 2-like 2							97.0	95.0	96.0					4																	65147211		2203	4299	6502	SO:0001583	missense	253017				lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	g.chr4:65147211C>T	AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"""glycoprotein, synaptic 2-like"""					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.899G>A	4.37:g.65147211C>T	ENSP00000370607:p.Cys300Tyr					TECRL_uc010ihi.2_RNA	p.C300Y	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN			10	1008	-			300						Missense_Mutation	SNP	ENST00000381210.3	37	c.899G>A	CCDS33990.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.828812	0.71258	.	.	ENSG00000205678	ENST00000507440;ENST00000381210;ENST00000511997	T;T	0.34072	1.38;1.38	5.55	5.55	0.83447	3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.68760	0.3036	M	0.92122	3.275	0.58432	D	0.999999	D	0.76494	0.999	D	0.87578	0.998	T	0.76575	-0.2909	10	0.87932	D	0	-19.0965	15.0736	0.72059	0.0:1.0:0.0:0.0	.	300	Q5HYJ1	TECRL_HUMAN	Y	300;300;15	ENSP00000426043:C300Y;ENSP00000370607:C300Y	ENSP00000370607:C300Y	C	-	2	0	TECRL	64829806	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.459000	0.66685	2.614000	0.88457	0.644000	0.83932	TGT		0.323	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361705.4	NM_001010874		6	38	0	0	0	0.00308	0	6	38				
TMPRSS11E	28983	broad.mit.edu	37	4	69337320	69337320	+	Missense_Mutation	SNP	C	C	A	rs532377309		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:69337320C>A	ENST00000305363.4	+	5	533	c.469C>A	c.(469-471)Cct>Act	p.P157T		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	157	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cognition (GO:0050890)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						TAAAGTAGATCCTCACTCAGT	0.313													C|||	1	0.000199681	0.0	0.0	5008	,	,		13872	0.001		0.0	False		,,,				2504	0.0						uc003hdz.3		NA																	0					NA						c.(469-471)CCT>ACT		transmembrane protease, serine 11E							111.0	117.0	115.0					4																	69337320		2203	4299	6502	SO:0001583	missense	0							g.chr4:69337320C>A	AF064819	CCDS33993.1	4q13.2	2010-04-13			ENSG00000087128	ENSG00000087128		"""Serine peptidases / Transmembrane"""	24465	protein-coding gene	gene with protein product		610399	"""transmembrane protease, serine 11E2"""	TMPRSS11E2		15328353	Standard	NM_014058		Approved	DESC1	uc003hdz.4	Q9UL52	OTTHUMG00000160438	ENST00000305363.4:c.469C>A	4.37:g.69337320C>A	ENSP00000307519:p.Pro157Thr						p.P157T	NM_014058	NP_054777					5	533	+								A6NL71|Q14DC8|Q6UW31	Missense_Mutation	SNP	ENST00000305363.4	37	c.469C>A	CCDS33993.1	.	.	.	.	.	.	.	.	.	.	C	9.234	1.036510	0.19669	.	.	ENSG00000087128	ENST00000305363	T	0.33865	1.39	5.83	4.99	0.66335	.	0.000000	0.51477	D	0.000096	T	0.36413	0.0966	L	0.32530	0.975	0.24296	N	0.995143	P	0.41420	0.749	P	0.48368	0.575	T	0.19418	-1.0306	10	0.48119	T	0.1	.	11.0829	0.48070	0.0:0.9145:0.0:0.0855	.	157	Q9UL52	TM11E_HUMAN	T	157	ENSP00000307519:P157T	ENSP00000307519:P157T	P	+	1	0	TMPRSS11E	69019915	0.928000	0.31464	0.215000	0.23724	0.409000	0.31022	3.900000	0.56295	1.472000	0.48140	0.591000	0.81541	CCT		0.313	TMPRSS11E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360584.1	NM_014058		32	64	1	0	1.58521e-26	0.005524	2.78629e-26	32	64				
C4orf26	152816	broad.mit.edu	37	4	76489342	76489342	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:76489342C>A	ENST00000311623.4	+	2	121	c.86C>A	c.(85-87)aCg>aAg	p.T29K	C4orf26_ENST00000435974.2_Missense_Mutation_p.R44S	NM_001257072.1|NM_178497.3	NP_001244001.1|NP_848592.2	Q17RF5	CD026_HUMAN	chromosome 4 open reading frame 26	29						extracellular region (GO:0005576)				kidney(1)|large_intestine(4)|stomach(1)	6			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			GAGGTATTTACGCCTCCTGGA	0.527																																							uc003hip.1		NA																	0					0						c.(85-87)ACG>AAG		hypothetical protein LOC152816 precursor							67.0	71.0	70.0					4																	76489342		2203	4300	6503	SO:0001583	missense	152816					extracellular region		g.chr4:76489342C>A	AK074237	CCDS3569.1, CCDS56334.1, CCDS75142.1	4q21.1	2012-10-31			ENSG00000174792	ENSG00000174792			26300	protein-coding gene	gene with protein product		614829				22901946	Standard	NM_001206981		Approved	FLJ23657	uc011cbo.2	Q17RF5	OTTHUMG00000130104	ENST00000311623.4:c.86C>A	4.37:g.76489342C>A	ENSP00000311307:p.Thr29Lys					C4orf26_uc011cbn.1_RNA|C4orf26_uc011cbo.1_Missense_Mutation_p.R44S	p.T29K	NM_178497	NP_848592	Q17RF5	CD026_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		2	121	+			29					B4DTI3|E7ETQ0|Q8TEC3	Missense_Mutation	SNP	ENST00000311623.4	37	c.86C>A	CCDS3569.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.840|7.840	0.721758|0.721758	0.15372|0.15372	.|.	.|.	ENSG00000174792|ENSG00000174792	ENST00000435974|ENST00000311623	T|T	0.48201|0.38722	0.82|1.12	4.6|4.6	1.05|1.05	0.20165|0.20165	.|.	.|0.365474	.|0.21557	.|N	.|0.072634	T|T	0.37293|0.37293	0.0998|0.0998	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	B|D	0.02656|0.63046	0.0|0.992	B|P	0.06405|0.55303	0.002|0.773	T|T	0.18493|0.18493	-1.0335|-1.0335	9|10	0.87932|0.87932	D|D	0|0	.|.	4.1083|4.1083	0.10047|0.10047	0.181:0.61:0.0:0.209|0.181:0.61:0.0:0.209	.|.	44|29	E7ETQ0|Q17RF5	.|CD026_HUMAN	S|K	44|29	ENSP00000406925:R44S|ENSP00000311307:T29K	ENSP00000406925:R44S|ENSP00000311307:T29K	R|T	+|+	1|2	0|0	C4orf26|C4orf26	76708366|76708366	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.212000|0.212000	0.24457|0.24457	-0.328000|-0.328000	0.07945|0.07945	0.054000|0.054000	0.16065|0.16065	0.551000|0.551000	0.68910|0.68910	CGC|ACG		0.527	C4orf26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252410.1	NM_178497		10	28	1	0	0.00829132	0.008291	0.00871937	10	28				
NKX6-1	4825	broad.mit.edu	37	4	85416970	85416970	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:85416970T>C	ENST00000295886.4	-	2	919	c.698A>G	c.(697-699)gAc>gGc	p.D233G	NKX6-1_ENST00000515820.2_5'UTR	NM_006168.2	NP_006159.2	P78426	NKX61_HUMAN	NK6 homeobox 1	233	Repressor domain. {ECO:0000250}.				cell proliferation (GO:0008283)|cellular response to cytokine stimulus (GO:0071345)|cellular response to peptide hormone stimulus (GO:0071375)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|negative regulation of glial cell differentiation (GO:0045686)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|organ morphogenesis (GO:0009887)|pancreas development (GO:0031016)|positive regulation of glial cell differentiation (GO:0045687)|positive regulation of insulin secretion (GO:0032024)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of axon extension (GO:0030516)|regulation of neuron migration (GO:2001222)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to drug (GO:0042493)|response to nicotine (GO:0035094)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	15		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.0013)		TCTCTTCCCGTCTTTGTCCAA	0.483																																							uc003hpa.1		NA																	0					0						c.(697-699)GAC>GGC		NK6 transcription factor related, locus 1							85.0	88.0	87.0					4																	85416970		2203	4300	6503	SO:0001583	missense	4825				detection of glucose|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation	nucleus		g.chr4:85416970T>C	AH007313	CCDS3607.1	4q21.33	2012-03-09	2007-07-09	2002-10-04	ENSG00000163623	ENSG00000163623		"""Homeoboxes / ANTP class : NKL subclass"""	7839	protein-coding gene	gene with protein product		602563	"""NK homeobox (Drosophila), family 6, A"", ""NK6 transcription factor related, locus 1 (Drosophila)"""	NKX6A		9119408	Standard	NM_006168		Approved	Nkx6.1	uc003hpa.1	P78426	OTTHUMG00000130426	ENST00000295886.4:c.698A>G	4.37:g.85416970T>C	ENSP00000295886:p.Asp233Gly						p.D233G	NM_006168	NP_006159	P78426	NKX61_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0013)	2	704	-		Hepatocellular(203;0.114)	233			Repressor domain (By similarity).			Missense_Mutation	SNP	ENST00000295886.4	37	c.698A>G	CCDS3607.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.943338	0.73672	.	.	ENSG00000163623	ENST00000295886	D	0.95482	-3.72	5.55	5.55	0.83447	Homeodomain-related (1);Homeodomain-like (1);	0.109676	0.64402	D	0.000016	D	0.96565	0.8879	M	0.62723	1.935	0.80722	D	1	D	0.63880	0.993	D	0.74674	0.984	D	0.95164	0.8284	10	0.14252	T	0.57	-24.0321	14.5486	0.68050	0.0:0.0:0.0:1.0	.	233	P78426	NKX61_HUMAN	G	233	ENSP00000295886:D233G	ENSP00000295886:D233G	D	-	2	0	NKX6-1	85635994	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.402000	0.79972	2.108000	0.64289	0.533000	0.62120	GAC		0.483	NKX6-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252814.2	NM_006168		10	50	0	0	0	0.001855	0	10	50				
MMRN1	22915	broad.mit.edu	37	4	90874219	90874219	+	Missense_Mutation	SNP	A	A	G	rs189291833		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:90874219A>G	ENST00000394980.1	+	9	3656	c.3337A>G	c.(3337-3339)Ata>Gta	p.I1113V	MMRN1_ENST00000394981.1_Missense_Mutation_p.I416V|MMRN1_ENST00000264790.2_Missense_Mutation_p.I1113V|MMRN1_ENST00000508372.1_Missense_Mutation_p.I855V			Q13201	MMRN1_HUMAN	multimerin 1	1113	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TGGAATGACTATACCTGGTCC	0.363													A|||	1	0.000199681	0.0008	0.0	5008	,	,		18188	0.0		0.0	False		,,,				2504	0.0						uc003hst.2		NA																	0				ovary(4)	4						c.(3337-3339)ATA>GTA		multimerin 1							113.0	116.0	115.0					4																	90874219		2203	4300	6503	SO:0001583	missense	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90874219A>G	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.3337A>G	4.37:g.90874219A>G	ENSP00000378431:p.Ile1113Val					MMRN1_uc010iku.2_Missense_Mutation_p.I416V|MMRN1_uc011cds.1_Missense_Mutation_p.I855V	p.I1113V	NM_007351	NP_031377	Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	8	3408	+		Hepatocellular(203;0.114)	1113			C1q.		Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	c.3337A>G	CCDS3635.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	9.367	1.069446	0.20147	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000394981;ENST00000508372	T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88	4.97	2.62	0.31277	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.413516	0.22824	N	0.055194	T	0.51363	0.1670	N	0.11427	0.14	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.09377	0.003;0.004	T	0.40156	-0.9578	10	0.37606	T	0.19	.	7.5399	0.27731	0.8232:0.0:0.1768:0.0	.	416;1113	Q13201-2;Q13201	.;MMRN1_HUMAN	V	1113;1113;416;855	ENSP00000378431:I1113V;ENSP00000264790:I1113V;ENSP00000378432:I416V;ENSP00000426461:I855V	ENSP00000264790:I1113V	I	+	1	0	MMRN1	91093242	0.481000	0.25941	0.619000	0.29118	0.830000	0.47004	2.551000	0.45820	0.998000	0.38996	0.397000	0.26171	ATA		0.363	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		19	45	0	0	0	0.00278	0	19	45				
GRID2	2895	broad.mit.edu	37	4	94006321	94006321	+	Silent	SNP	T	T	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:94006321T>C	ENST00000282020.4	+	3	678	c.420T>C	c.(418-420)gaT>gaC	p.D140D	GRID2_ENST00000510992.1_Intron|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	140					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		ACAGGAATGATGACTACACTC	0.498																																							uc011cdt.1		NA																	0				ovary(3)|skin(2)|large_intestine(1)	6						c.(418-420)GAT>GAC		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						108.0	99.0	102.0					4																	94006321		2203	4300	6503	SO:0001819	synonymous_variant	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94006321T>C	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.420T>C	4.37:g.94006321T>C						GRID2_uc010ikx.2_Silent_p.D140D|GRID2_uc011cdu.1_Intron|GRID2_uc011cdv.1_RNA	p.D140D	NM_001510	NP_001501	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	3	678	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	140			Extracellular (Potential).		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Silent	SNP	ENST00000282020.4	37	c.420T>C	CCDS3637.1																																																																																				0.498	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			16	97	0	0	0	0.003163	0	16	97				
GRID2	2895	broad.mit.edu	37	4	94547483	94547483	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:94547483G>T	ENST00000282020.4	+	14	2515	c.2257G>T	c.(2257-2259)Gac>Tac	p.D753Y	GRID2_ENST00000510992.1_Missense_Mutation_p.D658Y	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	753					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		GGCTATCAATGACCCAGATTG	0.373																																							uc011cdt.1		NA																	0				ovary(3)|skin(2)|large_intestine(1)	6						c.(2257-2259)GAC>TAC		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						189.0	168.0	176.0					4																	94547483		2203	4300	6503	SO:0001583	missense	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94547483G>T	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.2257G>T	4.37:g.94547483G>T	ENSP00000282020:p.Asp753Tyr					GRID2_uc011cdu.1_Missense_Mutation_p.D658Y	p.D753Y	NM_001510	NP_001501	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	14	2515	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	753			Extracellular (Potential).		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.2257G>T	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.571595	0.86542	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.27402	1.67;1.67	5.13	5.13	0.70059	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.64182	0.2575	M	0.88181	2.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.71676	-0.4521	10	0.72032	D	0.01	.	18.9243	0.92538	0.0:0.0:1.0:0.0	.	658;753	E9PH24;O43424	.;GRID2_HUMAN	Y	753;658	ENSP00000282020:D753Y;ENSP00000421257:D658Y	ENSP00000282020:D753Y	D	+	1	0	GRID2	94766506	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.195000	0.94971	2.542000	0.85734	0.484000	0.47621	GAC		0.373	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			29	64	1	0	1.08312e-15	0.009535	1.70254e-15	29	64				
SMARCAD1	56916	broad.mit.edu	37	4	95198255	95198255	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:95198255C>T	ENST00000354268.4	+	16	2100	c.2027C>T	c.(2026-2028)cCa>cTa	p.P676L	SMARCAD1_ENST00000509418.1_Missense_Mutation_p.P246L|SMARCAD1_ENST00000457823.2_Missense_Mutation_p.P676L			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	676	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TTTGTTATGCCACACATGTTT	0.368																																							uc003htc.3		NA																	0				skin(2)|ovary(1)|breast(1)	4						c.(2026-2028)CCA>CTA		SWI/SNF-related, matrix-associated							188.0	182.0	184.0					4																	95198255		2203	4300	6503	SO:0001583	missense	56916				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	g.chr4:95198255C>T	AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.2027C>T	4.37:g.95198255C>T	ENSP00000346217:p.Pro676Leu					SMARCAD1_uc003htb.3_Missense_Mutation_p.P676L|SMARCAD1_uc003htd.3_Missense_Mutation_p.P676L|SMARCAD1_uc010ila.2_Missense_Mutation_p.P539L|SMARCAD1_uc011cdw.1_Missense_Mutation_p.P246L	p.P676L	NM_020159	NP_064544	Q9H4L7	SMRCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)	16	2282	+			676			Helicase ATP-binding.		B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Missense_Mutation	SNP	ENST00000354268.4	37	c.2027C>T	CCDS3639.1	.	.	.	.	.	.	.	.	.	.	C	33	5.244141	0.95272	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000354268;ENST00000509418	D;D;D;D	0.93426	-3.22;-3.22;-3.22;-3.21	5.24	5.24	0.73138	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.46758	D	0.000263	D	0.98207	0.9407	H	0.97806	4.08	0.80722	D	1	P;P	0.46706	0.883;0.858	D;D	0.68192	0.956;0.927	D	0.99425	1.0934	10	0.87932	D	0	-12.3831	18.8643	0.92285	0.0:1.0:0.0:0.0	.	676;676	Q9H4L7;Q9H4L7-2	SMRCD_HUMAN;.	L	676;676;676;246	ENSP00000351947:P676L;ENSP00000415576:P676L;ENSP00000346217:P676L;ENSP00000423286:P246L	ENSP00000346217:P676L	P	+	2	0	SMARCAD1	95417278	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.707000	0.84623	2.463000	0.83235	0.555000	0.69702	CCA		0.368	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1	NM_020159		26	81	0	0	0	0.009535	0	26	81				
SMARCAD1	56916	broad.mit.edu	37	4	95206137	95206137	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:95206137G>T	ENST00000354268.4	+	23	3009	c.2936G>T	c.(2935-2937)aGc>aTc	p.S979I	SMARCAD1_ENST00000509418.1_Missense_Mutation_p.S549I|SMARCAD1_ENST00000457823.2_Missense_Mutation_p.S981I			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	979	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		AAACTAATAAGCCAAGGGACG	0.284																																							uc003htc.3		NA																	0				skin(2)|ovary(1)|breast(1)	4						c.(2935-2937)AGC>ATC		SWI/SNF-related, matrix-associated							82.0	89.0	87.0					4																	95206137		2203	4299	6502	SO:0001583	missense	56916				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	g.chr4:95206137G>T	AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.2936G>T	4.37:g.95206137G>T	ENSP00000346217:p.Ser979Ile					SMARCAD1_uc003htb.3_Missense_Mutation_p.S981I|SMARCAD1_uc003htd.3_Missense_Mutation_p.S981I|SMARCAD1_uc010ila.2_Missense_Mutation_p.S844I|SMARCAD1_uc011cdw.1_Missense_Mutation_p.S549I	p.S979I	NM_020159	NP_064544	Q9H4L7	SMRCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)	23	3191	+			979			Helicase C-terminal.		B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Missense_Mutation	SNP	ENST00000354268.4	37	c.2936G>T	CCDS3639.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.802993	0.90623	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000354268;ENST00000509418	T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03	5.57	5.57	0.84162	Helicase, C-terminal (1);	0.105878	0.41823	D	0.000805	D	0.84188	0.5417	L	0.45051	1.395	0.80722	D	1	D;D	0.62365	0.984;0.991	P;D	0.63488	0.825;0.915	D	0.85305	0.1075	10	0.87932	D	0	-4.4603	19.5437	0.95283	0.0:0.0:1.0:0.0	.	979;981	Q9H4L7;Q9H4L7-2	SMRCD_HUMAN;.	I	981;981;979;549	ENSP00000351947:S981I;ENSP00000415576:S981I;ENSP00000346217:S979I;ENSP00000423286:S549I	ENSP00000346217:S979I	S	+	2	0	SMARCAD1	95425160	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.065000	0.93941	2.645000	0.89757	0.585000	0.79938	AGC		0.284	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1	NM_020159		10	42	1	0	1.61879e-10	0.001368	2.25599e-10	10	42				
ADH7	131	broad.mit.edu	37	4	100349332	100349332	+	Splice_Site	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:100349332C>A	ENST00000209665.4	-	4	536		c.e4-1		ADH7_ENST00000437033.2_Splice_Site|ADH7_ENST00000482593.1_Splice_Site|ADH7_ENST00000476959.1_Splice_Site	NM_000673.4	NP_000664.2	P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide						ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|extracellular negative regulation of signal transduction (GO:1900116)|fatty acid omega-oxidation (GO:0010430)|oxidation-reduction process (GO:0055114)|response to bacterium (GO:0009617)|response to ethanol (GO:0045471)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular region (GO:0005576)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|aldehyde oxidase activity (GO:0004031)|ethanol binding (GO:0035276)|receptor antagonist activity (GO:0048019)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)		ACTTTGTCACCTACAGGAAAA	0.358																																							uc003huv.1		NA																	0				lung(2)|skin(1)	3						c.e4-1		class IV alcohol dehydrogenase, mu or sigma	NADH(DB00157)						110.0	110.0	110.0					4																	100349332		2203	4300	6503	SO:0001630	splice_region_variant	131				ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity	g.chr4:100349332C>A	X76342	CCDS34034.1, CCDS54781.1	4q23-q24	2008-02-05			ENSG00000196344	ENSG00000196344	1.1.1.1	"""Alcohol dehydrogenases"""	256	protein-coding gene	gene with protein product		600086				8195208	Standard	NM_000673		Approved	ADH-4	uc021xqj.1	P40394	OTTHUMG00000159318	ENST00000209665.4:c.296-1G>T	4.37:g.100349332C>A							p.G99_splice	NM_000673	NP_000664	P40394	ADH7_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	4	395	-								A2RRB6|A8MVN9|B2R760|B4DWV6|Q13713	Splice_Site	SNP	ENST00000209665.4	37	c.296_splice	CCDS34034.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.990545	0.54041	.	.	ENSG00000196344	ENST00000437033;ENST00000209665;ENST00000482593;ENST00000476959;ENST00000474027	.	.	.	4.91	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2998	0.90160	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ADH7	100568355	1.000000	0.71417	0.958000	0.39756	0.565000	0.35776	5.289000	0.65656	2.564000	0.86499	0.655000	0.94253	.		0.358	ADH7-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_000673	Intron	20	33	1	0	8.81451e-21	0.008871	1.47437e-20	20	33				
TET2	54790	broad.mit.edu	37	4	106155435	106155435	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:106155435G>A	ENST00000540549.1	+	3	1196	c.336G>A	c.(334-336)ttG>ttA	p.L112L	TET2_ENST00000394764.1_Silent_p.L112L|TET2_ENST00000380013.4_Silent_p.L112L|TET2_ENST00000513237.1_Silent_p.L133L|TET2_ENST00000305737.2_Silent_p.L112L|TET2_ENST00000413648.2_Silent_p.L112L|TET2_ENST00000545826.1_Silent_p.L112L			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	112					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TCAAGAAATTGAAACAAGACC	0.423			"""Mis N, F"""		MDS																																		uc003hxk.2		NA		Rec	yes		4	4q24	54790	Mis N|F	tet oncogene family member 2			L			MDS		0				haematopoietic_and_lymphoid_tissue(732)|pancreas(1)	733						c.(334-336)TTG>TTA		tet oncogene family member 2 isoform a							60.0	58.0	59.0					4																	106155435		2203	4300	6503	SO:0001819	synonymous_variant	54790				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr4:106155435G>A	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.336G>A	4.37:g.106155435G>A						TET2_uc011cez.1_Silent_p.L133L|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Silent_p.L112L|TET2_uc003hxi.1_Silent_p.L112L	p.L112L	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	3	722	+		Myeloproliferative disorder(5;0.0393)	112					B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Silent	SNP	ENST00000540549.1	37	c.336G>A	CCDS47120.1																																																																																				0.423	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		4	25	0	0	0	0.009096	0	4	25				
DKK2	27123	broad.mit.edu	37	4	107956673	107956673	+	Missense_Mutation	SNP	A	A	G	rs552274432		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:107956673A>G	ENST00000285311.3	-	1	781	c.76T>C	c.(76-78)Tca>Cca	p.S26P	DKK2_ENST00000510463.1_Intron|DKK2_ENST00000513208.1_Intron	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	26					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		CCGATCTGTGAGCTCTCCACC	0.642													A|||	1	0.000199681	0.0	0.0	5008	,	,		13327	0.0		0.001	False		,,,				2504	0.0						uc003hyi.2		NA																	0				ovary(3)|lung(1)|skin(1)	5						c.(76-78)TCA>CCA		dickkopf homolog 2 precursor							81.0	82.0	81.0					4																	107956673		2203	4300	6503	SO:0001583	missense	27123				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space		g.chr4:107956673A>G	AB033208	CCDS3675.1	4q25	2013-05-15	2013-05-15		ENSG00000155011	ENSG00000155011			2892	protein-coding gene	gene with protein product		605415	"""dickkopf (Xenopus laevis) homolog 2"", ""dickkopf 2 homolog (Xenopus laevis)"""			10570958	Standard	NM_014421		Approved		uc003hyi.3	Q9UBU2	OTTHUMG00000131216	ENST00000285311.3:c.76T>C	4.37:g.107956673A>G	ENSP00000285311:p.Ser26Pro					DKK2_uc010ilw.1_Intron|DKK2_uc003hyj.1_Missense_Mutation_p.S26P	p.S26P	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)	1	781	-		Hepatocellular(203;0.217)	26					A0AVE9|B2R6S7|Q9UIU3	Missense_Mutation	SNP	ENST00000285311.3	37	c.76T>C	CCDS3675.1	.	.	.	.	.	.	.	.	.	.	A	14.41	2.528274	0.44969	.	.	ENSG00000155011	ENST00000285311	T	0.50277	0.75	5.27	1.23	0.21249	.	0.356628	0.29273	N	0.012636	T	0.43567	0.1253	L	0.27053	0.805	0.80722	D	1	D;B	0.57899	0.981;0.131	P;B	0.52109	0.69;0.137	T	0.33445	-0.9868	10	0.52906	T	0.07	-15.5161	12.7228	0.57152	0.6035:0.3965:0.0:0.0	.	26;26	Q9H3R7;Q9UBU2	.;DKK2_HUMAN	P	26	ENSP00000285311:S26P	ENSP00000285311:S26P	S	-	1	0	DKK2	108176122	1.000000	0.71417	0.838000	0.33150	0.978000	0.69477	3.408000	0.52651	0.075000	0.16796	-0.499000	0.04595	TCA		0.642	DKK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253959.4			13	111	0	0	0	0.003163	0	13	111				
COL25A1	84570	broad.mit.edu	37	4	109931531	109931531	+	Splice_Site	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:109931531C>A	ENST00000399132.1	-	6	951	c.421G>T	c.(421-423)Gga>Tga	p.G141*	COL25A1_ENST00000399127.1_Splice_Site_p.G141*|COL25A1_ENST00000399126.1_Splice_Site_p.G141*	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CCAGGCTGTCCCTGAAATTAA	0.308																																							uc003hze.1		NA																	0				ovary(2)	2						c.(421-423)GGA>TGA		collagen, type XXV, alpha 1 isoform 1							39.0	39.0	39.0					4																	109931531		1793	4066	5859	SO:0001630	splice_region_variant	84570					collagen|extracellular space	beta-amyloid binding|heparin binding	g.chr4:109931531C>A	AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"""Collagens"""	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.421-1G>T	4.37:g.109931531C>A						COL25A1_uc003hzg.2_Nonsense_Mutation_p.G141*|COL25A1_uc003hzd.2_RNA|COL25A1_uc003hzf.2_5'UTR	p.G141*	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000173)	5	952	-		Hepatocellular(203;0.217)	141			Extracellular (Potential).|Collagen-like 1.			Nonsense_Mutation	SNP	ENST00000399132.1	37	c.421G>T	CCDS43258.1	.	.	.	.	.	.	.	.	.	.	C	37	6.170682	0.97343	.	.	ENSG00000188517	ENST00000399132;ENST00000399127;ENST00000399126	.	.	.	5.7	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0604	0.53559	0.0:0.9209:0.0:0.0791	.	.	.	.	X	141	.	.	G	-	1	0	COL25A1	110150980	1.000000	0.71417	1.000000	0.80357	0.296000	0.27459	4.496000	0.60360	1.424000	0.47217	0.655000	0.94253	GGA		0.308	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518	Nonsense_Mutation	8	7	1	0	4.1943e-16	0.008291	6.63503e-16	8	7				
ALPK1	80216	broad.mit.edu	37	4	113351650	113351650	+	Missense_Mutation	SNP	G	G	A	rs564233871		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:113351650G>A	ENST00000458497.1	+	11	1226	c.947G>A	c.(946-948)tGt>tAt	p.C316Y	ALPK1_ENST00000504176.2_Missense_Mutation_p.C238Y|ALPK1_ENST00000177648.9_Missense_Mutation_p.C316Y	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	316							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TCAAATGACTGTCCTCCAGAA	0.403																																							uc003iap.3		NA																	0				ovary(5)	5						c.(946-948)TGT>TAT		alpha-kinase 1							75.0	76.0	75.0					4																	113351650		2203	4300	6503	SO:0001583	missense	80216						ATP binding|protein serine/threonine kinase activity	g.chr4:113351650G>A	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"""lymphocyte alpha-kinase"""	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.947G>A	4.37:g.113351650G>A	ENSP00000398048:p.Cys316Tyr					ALPK1_uc003ian.3_Missense_Mutation_p.C316Y|ALPK1_uc011cfx.1_Missense_Mutation_p.C238Y|ALPK1_uc003iao.3_Intron|ALPK1_uc010imo.2_Missense_Mutation_p.C144Y	p.C316Y	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00325)	11	1226	+		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	316					B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	ENST00000458497.1	37	c.947G>A	CCDS3697.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.033144	0.75504	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.11930	2.86;2.86;2.73	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.42743	0.1216	M	0.77820	2.39	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.29640	-1.0005	10	0.87932	D	0	-18.2529	19.8968	0.96969	0.0:0.0:1.0:0.0	.	238;238;316	F5H138;B4E3G1;Q96QP1	.;.;ALPK1_HUMAN	Y	316;316;238	ENSP00000398048:C316Y;ENSP00000177648:C316Y;ENSP00000426044:C238Y	ENSP00000177648:C316Y	C	+	2	0	ALPK1	113571099	1.000000	0.71417	1.000000	0.80357	0.555000	0.35460	9.361000	0.97122	2.691000	0.91804	0.655000	0.94253	TGT		0.403	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		21	50	0	0	0	0.00632	0	21	50				
ANK2	287	broad.mit.edu	37	4	114179283	114179283	+	Silent	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:114179283T>A	ENST00000357077.4	+	12	1319	c.1266T>A	c.(1264-1266)gcT>gcA	p.A422A	ANK2_ENST00000394537.3_Silent_p.A422A|ANK2_ENST00000264366.6_Silent_p.A422A|ANK2_ENST00000506722.1_Silent_p.A401A	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	422					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AATATGGGGCTTCAATCCAAG	0.408																																							uc003ibe.3		NA																	0				central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(1264-1266)GCT>GCA		ankyrin 2 isoform 1							123.0	110.0	114.0					4																	114179283		2203	4300	6503	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114179283T>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.1266T>A	4.37:g.114179283T>A						ANK2_uc003ibd.3_Silent_p.A401A|ANK2_uc003ibf.3_Silent_p.A422A|ANK2_uc003ibc.2_Silent_p.A398A|ANK2_uc011cgb.1_Silent_p.A437A	p.A422A	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	12	1366	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	422			ANK 12.		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.1266T>A	CCDS3702.1																																																																																				0.408	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		17	30	0	0	0	0.008871	0	17	30				
NDST4	64579	broad.mit.edu	37	4	115751022	115751022	+	Missense_Mutation	SNP	C	C	A	rs550385229		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:115751022C>A	ENST00000264363.2	-	13	3101	c.2423G>T	c.(2422-2424)tGt>tTt	p.C808F		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	808	Heparan sulfate N-sulfotransferase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CAGTAATTGACACCAAAAACC	0.348																																							uc003ibu.2		NA																	0				skin(3)|ovary(1)	4						c.(2422-2424)TGT>TTT		heparan sulfate N-deacetylase/N-sulfotransferase							82.0	83.0	83.0					4																	115751022		2203	4300	6503	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115751022C>A	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.2423G>T	4.37:g.115751022C>A	ENSP00000264363:p.Cys808Phe					NDST4_uc010imw.2_RNA	p.C808F	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	13	3102	-		Ovarian(17;0.156)	808			Lumenal (Potential).|Heparan sulfate N-sulfotransferase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.2423G>T	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.556275	0.86231	.	.	ENSG00000138653	ENST00000264363	D	0.82619	-1.63	5.59	5.59	0.84812	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.93416	0.7900	M	0.91920	3.255	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94141	0.7397	10	0.87932	D	0	.	19.951	0.97199	0.0:1.0:0.0:0.0	.	808	Q9H3R1	NDST4_HUMAN	F	808	ENSP00000264363:C808F	ENSP00000264363:C808F	C	-	2	0	NDST4	115970471	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.349000	0.79376	2.782000	0.95742	0.637000	0.83480	TGT		0.348	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		8	31	1	0	1.06961e-07	0.00308	1.36877e-07	8	31				
NDST4	64579	broad.mit.edu	37	4	115773937	115773937	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:115773937C>T	ENST00000264363.2	-	8	2438	c.1760G>A	c.(1759-1761)aGa>aAa	p.R587K		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	587	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		AGTTTTCTCTCTGGACCAGAT	0.353																																							uc003ibu.2		NA																	0				skin(3)|ovary(1)	4						c.(1759-1761)AGA>AAA		heparan sulfate N-deacetylase/N-sulfotransferase							138.0	134.0	135.0					4																	115773937		2203	4300	6503	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115773937C>T	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.1760G>A	4.37:g.115773937C>T	ENSP00000264363:p.Arg587Lys					NDST4_uc010imw.2_RNA	p.R587K	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	8	2439	-		Ovarian(17;0.156)	587			Lumenal (Potential).|Heparan sulfate N-deacetylase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.1760G>A	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	C	7.825	0.718614	0.15372	.	.	ENSG00000138653	ENST00000264363	T	0.53423	0.62	5.58	4.74	0.60224	.	0.093269	0.64402	N	0.000001	T	0.15392	0.0371	N	0.00500	-1.43	0.44956	D	0.99797	B	0.02656	0.0	B	0.01281	0.0	T	0.31724	-0.9933	10	0.02654	T	1	.	14.2097	0.65756	0.0:0.9282:0.0:0.0718	.	587	Q9H3R1	NDST4_HUMAN	K	587	ENSP00000264363:R587K	ENSP00000264363:R587K	R	-	2	0	NDST4	115993386	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.383000	0.66219	1.349000	0.45751	0.655000	0.94253	AGA		0.353	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		9	21	0	0	0	0.008291	0	9	21				
BBS7	55212	broad.mit.edu	37	4	122784422	122784422	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:122784422C>A	ENST00000264499.4	-	3	298	c.115G>T	c.(115-117)Gat>Tat	p.D39Y	BBS7_ENST00000506636.1_Missense_Mutation_p.D39Y	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	39					brain development (GO:0007420)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|digestive tract morphogenesis (GO:0048546)|eye development (GO:0001654)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|limb development (GO:0060173)|melanosome transport (GO:0032402)|nonmotile primary cilium assembly (GO:0035058)|palate development (GO:0060021)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|visual perception (GO:0007601)	axoneme (GO:0005930)|BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CCATCATGATCTCCAATAACC	0.318									Bardet-Biedl syndrome																														uc003ied.2		NA																	0				ovary(1)	1						c.(115-117)GAT>TAT		Bardet-Biedl syndrome 7 protein isoform a							151.0	159.0	156.0					4																	122784422		2203	4300	6503	SO:0001583	missense	55212	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding	g.chr4:122784422C>A	AF521644	CCDS3724.1, CCDS54799.1	4q27	2013-01-08			ENSG00000138686	ENSG00000138686			18758	protein-coding gene	gene with protein product		607590					Standard	NM_176824		Approved	FLJ10715, BBS2L1	uc003ied.3	Q8IWZ6	OTTHUMG00000133076	ENST00000264499.4:c.115G>T	4.37:g.122784422C>A	ENSP00000264499:p.Asp39Tyr					BBS7_uc003iee.1_Missense_Mutation_p.D39Y|BBS7_uc010inq.1_5'UTR	p.D39Y	NM_176824	NP_789794	Q8IWZ6	BBS7_HUMAN			3	289	-			39					Q4W5P8|Q8N581|Q9NVI4	Missense_Mutation	SNP	ENST00000264499.4	37	c.115G>T	CCDS3724.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.544811	0.86022	.	.	ENSG00000138686	ENST00000264499;ENST00000506636	T;T	0.71103	-0.54;-0.54	5.57	5.57	0.84162	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.87030	0.6076	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88754	0.3252	10	0.87932	D	0	-20.0032	19.5497	0.95312	0.0:1.0:0.0:0.0	.	39	Q8IWZ6	BBS7_HUMAN	Y	39	ENSP00000264499:D39Y;ENSP00000423626:D39Y	ENSP00000264499:D39Y	D	-	1	0	BBS7	123003872	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	7.304000	0.78882	2.602000	0.87976	0.655000	0.94253	GAT		0.318	BBS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256716.1			32	153	1	0	1.32136e-16	0.00874	2.11275e-16	32	153				
KIAA1109	84162	broad.mit.edu	37	4	123107222	123107222	+	Silent	SNP	A	A	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:123107222A>C	ENST00000264501.4	+	7	763	c.390A>C	c.(388-390)acA>acC	p.T130T	KIAA1109_ENST00000455637.1_Silent_p.T130T|KIAA1109_ENST00000388738.3_Silent_p.T130T			Q2LD37	K1109_HUMAN	KIAA1109	130					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TATACATCACAGTCAATGACT	0.338																																							uc003ieh.2		NA																	0				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(388-390)ACA>ACC		fragile site-associated protein							112.0	105.0	107.0					4																	123107222		1817	4079	5896	SO:0001819	synonymous_variant	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123107222A>C	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.390A>C	4.37:g.123107222A>C						KIAA1109_uc003iei.1_5'UTR	p.T130T	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			5	435	+			130					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Silent	SNP	ENST00000264501.4	37	c.390A>C	CCDS43267.1																																																																																				0.338	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		10	34	0	0	0	0.001368	0	10	34				
FAT4	79633	broad.mit.edu	37	4	126238361	126238361	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:126238361G>T	ENST00000394329.3	+	1	808	c.795G>T	c.(793-795)gtG>gtT	p.V265V		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	265	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACGCGGTTGTGGGTTCCAGCG	0.627											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003ifj.3		NA																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(793-795)GTG>GTT		FAT tumor suppressor homolog 4 precursor							20.0	25.0	23.0					4																	126238361		1942	4116	6058	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126238361G>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.795G>T	4.37:g.126238361G>T			OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1548		p.V265V	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			1	795	+			265			Cadherin 3.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.795G>T	CCDS3732.3																																																																																				0.627	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		8	15	1	0	0.00829132	0.008291	0.00871937	8	15				
FAT4	79633	broad.mit.edu	37	4	126411120	126411120	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:126411120G>T	ENST00000394329.3	+	17	13156	c.13143G>T	c.(13141-13143)aaG>aaT	p.K4381N	FAT4_ENST00000335110.5_Missense_Mutation_p.K2622N	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4381	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCAGCGGGAAGCATAGCTTGG	0.493																																							uc003ifj.3		NA																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(13141-13143)AAG>AAT		FAT tumor suppressor homolog 4 precursor							174.0	182.0	179.0					4																	126411120		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126411120G>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.13143G>T	4.37:g.126411120G>T	ENSP00000377862:p.Lys4381Asn					FAT4_uc011cgp.1_Missense_Mutation_p.K2622N|FAT4_uc003ifi.1_Missense_Mutation_p.K1858N	p.K4381N	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			17	13143	+			4381			Laminin G-like 2.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.13143G>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	9.452	1.090803	0.20471	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.79940	-0.83;-1.32	5.27	1.56	0.23342	Concanavalin A-like lectin/glucanase (1);Laminin G domain (1);	0.000000	0.35739	U	0.003001	T	0.72486	0.3466	L	0.50333	1.59	0.42278	D	0.992085	B;P;P	0.46512	0.403;0.799;0.879	B;B;B	0.43536	0.157;0.272;0.423	T	0.65417	-0.6173	10	0.18276	T	0.48	.	9.0694	0.36482	0.353:0.0:0.647:0.0	.	2622;4381;4380	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	N	4381;2622	ENSP00000377862:K4381N;ENSP00000335169:K2622N	ENSP00000335169:K2622N	K	+	3	2	FAT4	126630570	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	0.462000	0.21956	0.220000	0.20860	0.561000	0.74099	AAG		0.493	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		36	186	1	0	1.22674e-20	0.00874	2.04733e-20	36	186				
PCDH18	54510	broad.mit.edu	37	4	138451859	138451859	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:138451859G>A	ENST00000344876.4	-	1	1770	c.1384C>T	c.(1384-1386)Cca>Tca	p.P462S	PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.P242S|PCDH18_ENST00000412923.2_Missense_Mutation_p.P462S|PCDH18_ENST00000511115.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	462	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					AAGTGGGGTGGATTGTCATTG	0.418																																							uc003ihe.3		NA																	0				pancreas(3)|skin(2)	5						c.(1384-1386)CCA>TCA		protocadherin 18 precursor							133.0	127.0	129.0					4																	138451859		2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138451859G>A	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.1384C>T	4.37:g.138451859G>A	ENSP00000355082:p.Pro462Ser					PCDH18_uc003ihf.3_Missense_Mutation_p.P455S|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.P242S|PCDH18_uc011cha.1_Intron	p.P462S	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN			1	1771	-	all_hematologic(180;0.24)		462			Cadherin 4.|Extracellular (Potential).		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.1384C>T	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.170556	0.38315	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.60171	0.21;0.21;0.21	6.04	3.23	0.37069	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.43110	D	0.000618	T	0.53738	0.1815	L	0.35793	1.09	0.80722	D	1	P;P;D	0.60160	0.926;0.94;0.987	P;P;P	0.50314	0.531;0.557;0.637	T	0.54125	-0.8340	10	0.51188	T	0.08	.	11.0564	0.47920	0.0653:0.2431:0.6917:0.0	.	242;462;462	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	S	462;462;242	ENSP00000355082:P462S;ENSP00000390688:P462S;ENSP00000425903:P242S	ENSP00000355082:P462S	P	-	1	0	PCDH18	138671309	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.595000	0.61048	0.866000	0.35629	0.563000	0.77884	CCA		0.418	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		23	110	0	0	0	0.003954	0	23	110				
TBC1D9	23158	broad.mit.edu	37	4	141543529	141543529	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:141543529C>A	ENST00000442267.2	-	21	3695	c.3621G>T	c.(3619-3621)cgG>cgT	p.R1207R		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1207							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TGGCCCAGTCCCGGTCCAGGC	0.637																																							uc010ioj.2		NA																	0				ovary(1)	1						c.(3619-3621)CGG>CGT		TBC1 domain family, member 9 (with GRAM domain)							40.0	44.0	43.0					4																	141543529		2083	4191	6274	SO:0001819	synonymous_variant	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141543529C>A	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.3621G>T	4.37:g.141543529C>A							p.R1207R	NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN			21	3893	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	1207					A6H8U8|D3DNZ1|O94958	Silent	SNP	ENST00000442267.2	37	c.3621G>T	CCDS47136.1																																																																																				0.637	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		6	12	1	0	0.00116845	0.001168	0.00126823	6	12				
RNF150	57484	broad.mit.edu	37	4	141847210	141847210	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:141847210G>T	ENST00000515673.2	-	5	941	c.908C>A	c.(907-909)tCc>tAc	p.S303Y	RNF150_ENST00000507500.1_Missense_Mutation_p.S303Y|RNF150_ENST00000306799.3_Missense_Mutation_p.S261Y|RNF150_ENST00000379512.2_Missense_Mutation_p.S162Y|RNF150_ENST00000420921.2_Missense_Mutation_p.S162Y			Q9ULK6	RN150_HUMAN	ring finger protein 150	303						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					GTCAACACAGGACTTGTGGAA	0.522																																							uc003iio.1		NA																	0				ovary(1)	1						c.(907-909)TCC>TAC		ring finger protein 150 precursor							117.0	114.0	115.0					4																	141847210		2203	4300	6503	SO:0001583	missense	57484					integral to membrane	zinc ion binding	g.chr4:141847210G>T	AB033040	CCDS34065.1	4q31.1	2013-01-09			ENSG00000170153	ENSG00000170153		"""RING-type (C3HC4) zinc fingers"""	23138	protein-coding gene	gene with protein product						10574462	Standard	XM_005263150		Approved	KIAA1214	uc003iio.1	Q9ULK6	OTTHUMG00000161380	ENST00000515673.2:c.908C>A	4.37:g.141847210G>T	ENSP00000425840:p.Ser303Tyr					RNF150_uc010iok.1_Missense_Mutation_p.S261Y|RNF150_uc003iip.1_Missense_Mutation_p.S303Y	p.S303Y	NM_020724	NP_065775	Q9ULK6	RN150_HUMAN			5	1562	-	all_hematologic(180;0.162)		303			Cytoplasmic (Potential).|RING-type; atypical.		Q3T1D0|Q6ZNW6	Missense_Mutation	SNP	ENST00000515673.2	37	c.908C>A	CCDS34065.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.215955	0.58452	.	.	ENSG00000170153	ENST00000379512;ENST00000420921;ENST00000306799;ENST00000515673;ENST00000507500;ENST00000506101	T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87	5.95	5.95	0.96441	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, RING-H2-type (1);	0.431655	0.26535	N	0.023827	T	0.42854	0.1221	L	0.33753	1.03	0.53005	D	0.999962	D;P;P	0.53151	0.958;0.889;0.738	B;B;P	0.45753	0.359;0.359;0.492	T	0.33904	-0.9850	10	0.62326	D	0.03	.	20.3931	0.98965	0.0:0.0:1.0:0.0	.	261;303;303	Q9ULK6-2;Q9ULK6-3;Q9ULK6	.;.;RN150_HUMAN	Y	162;162;261;303;303;134	ENSP00000368827:S162Y;ENSP00000394581:S162Y;ENSP00000304321:S261Y;ENSP00000425840:S303Y;ENSP00000425568:S303Y;ENSP00000425947:S134Y	ENSP00000304321:S261Y	S	-	2	0	RNF150	142066660	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.869000	0.48444	2.824000	0.97209	0.655000	0.94253	TCC		0.522	RNF150-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364739.2	XM_291090		7	27	1	0	5.18039e-06	0.00308	6.18734e-06	7	27				
POU4F2	5458	broad.mit.edu	37	4	147561521	147561521	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:147561521G>T	ENST00000281321.3	+	2	1039	c.791G>T	c.(790-792)cGc>cTc	p.R264L	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	264	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					TTCGCCGAGCGCTTCAAGCAG	0.697																																							uc003ikv.2		NA																	0				breast(1)	1						c.(790-792)CGC>CTC		Brn3b POU domain transcription factor							29.0	31.0	30.0					4																	147561521		2203	4299	6502	SO:0001583	missense	5458				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr4:147561521G>T	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.791G>T	4.37:g.147561521G>T	ENSP00000281321:p.Arg264Leu						p.R264L	NM_004575	NP_004566	Q12837	PO4F2_HUMAN			2	1039	+	all_hematologic(180;0.151)		264			POU-specific.		B1PJR6|B2RC84|Q13883|Q14987	Missense_Mutation	SNP	ENST00000281321.3	37	c.791G>T	CCDS34074.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.752841	0.69648	.	.	ENSG00000151615	ENST00000281321	D	0.83506	-1.73	5.42	5.42	0.78866	POU-specific (3);Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	T	0.81828	0.4905	N	0.22421	0.69	0.80722	D	1	P	0.42692	0.787	P	0.49192	0.602	D	0.83979	0.0331	10	0.66056	D	0.02	.	19.2306	0.93839	0.0:0.0:1.0:0.0	.	264	Q12837	PO4F2_HUMAN	L	264	ENSP00000281321:R264L	ENSP00000281321:R264L	R	+	2	0	POU4F2	147780971	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.967000	0.87967	2.561000	0.86390	0.462000	0.41574	CGC		0.697	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575		5	21	1	0	1.23904e-05	0.000602	1.44506e-05	5	21				
EDNRA	1909	broad.mit.edu	37	4	148463699	148463699	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:148463699A>T	ENST00000324300.5	+	8	1728	c.1213A>T	c.(1213-1215)Atc>Ttc	p.I405F	EDNRA_ENST00000506066.1_Missense_Mutation_p.I296F|EDNRA_ENST00000503721.1_3'UTR|EDNRA_ENST00000339690.5_3'UTR|EDNRA_ENST00000358556.4_Missense_Mutation_p.I296F|EDNRA_ENST00000511804.1_Missense_Mutation_p.I180F	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	405					activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|cell proliferation (GO:0008283)|cellular response to mechanical stimulus (GO:0071260)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|glomerular filtration (GO:0003094)|glucose transport (GO:0015758)|head development (GO:0060322)|heart development (GO:0007507)|histamine secretion (GO:0001821)|in utero embryonic development (GO:0001701)|maternal process involved in parturition (GO:0060137)|metabolic process (GO:0008152)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP biosynthetic process (GO:0030818)|neural crest cell development (GO:0014032)|patterning of blood vessels (GO:0001569)|penile erection (GO:0043084)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of kidney development (GO:0090184)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of odontogenesis (GO:0042482)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|Rho protein signal transduction (GO:0007266)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|smooth muscle cell proliferation (GO:0048659)|smooth muscle contraction (GO:0006939)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	endothelin receptor activity (GO:0004962)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Acetylsalicylic acid(DB00945)|Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	CGGAACAAGCATCCAGTGGAA	0.532																																							uc003iky.2		NA																	0				ovary(1)|breast(1)	2						c.(1213-1215)ATC>TTC		endothelin receptor type A isoform a precursor	Bosentan(DB00559)						205.0	186.0	192.0					4																	148463699		2203	4300	6503	SO:0001583	missense	1909				activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity	g.chr4:148463699A>T	D90348	CCDS3769.1, CCDS54810.1, CCDS58927.1	4q31.22	2013-09-20			ENSG00000151617	ENSG00000151617		"""GPCR / Class A : Endothelin receptors"""	3179	protein-coding gene	gene with protein product		131243				1659806	Standard	NM_001957		Approved		uc003iky.3	P25101	OTTHUMG00000161354	ENST00000324300.5:c.1213A>T	4.37:g.148463699A>T	ENSP00000315011:p.Ile405Phe					EDNRA_uc011cid.1_Missense_Mutation_p.I180F|EDNRA_uc010ipf.1_RNA|EDNRA_uc010ipg.1_Missense_Mutation_p.I296F	p.I405F	NM_001957	NP_001948	P25101	EDNRA_HUMAN		GBM - Glioblastoma multiforme(119;0.154)	8	1905	+	all_hematologic(180;0.151)		405			Cytoplasmic (Potential).		B2R723|B4E2V6|B7Z9G6|D3DP03|E7ER36|O43441|Q16432|Q16433|Q8TBH2	Missense_Mutation	SNP	ENST00000324300.5	37	c.1213A>T	CCDS3769.1	.	.	.	.	.	.	.	.	.	.	A	15.79	2.936262	0.52972	.	.	ENSG00000151617	ENST00000358556;ENST00000324300;ENST00000511804;ENST00000506066	T;T;T;T	0.37235	1.21;1.21;1.21;1.21	5.27	4.1	0.47936	.	0.044721	0.85682	D	0.000000	T	0.28732	0.0712	L	0.47716	1.5	0.80722	D	1	B;B	0.14805	0.011;0.001	B;B	0.11329	0.006;0.002	T	0.06162	-1.0842	10	0.23302	T	0.38	-23.1816	8.8334	0.35098	0.8475:0.0:0.1525:0.0	.	296;405	P25101-4;P25101	.;EDNRA_HUMAN	F	296;405;180;296	ENSP00000351359:I296F;ENSP00000315011:I405F;ENSP00000425354:I180F;ENSP00000425281:I296F	ENSP00000315011:I405F	I	+	1	0	EDNRA	148683149	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.041000	0.57339	0.848000	0.35191	0.482000	0.46254	ATC		0.532	EDNRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364635.1			27	53	0	0	0	0.00632	0	27	53				
RNF175	285533	broad.mit.edu	37	4	154644586	154644586	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:154644586C>G	ENST00000347063.4	-	5	798	c.426G>C	c.(424-426)ttG>ttC	p.L142F	RNF175_ENST00000506505.1_5'UTR|RNF175_ENST00000274068.4_Missense_Mutation_p.L14F|RP11-153M7.5_ENST00000505051.1_RNA	NM_173662.2	NP_775933	Q8N4F7	RN175_HUMAN	ring finger protein 175	142						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	13	all_hematologic(180;0.093)	Renal(120;0.118)				GTTTGTAGATCAAAAGAAACC	0.358																																							uc003int.2		NA																	0				ovary(1)|pancreas(1)	2						c.(424-426)TTG>TTC		ring finger protein 175							68.0	59.0	62.0					4																	154644586		1895	4108	6003	SO:0001583	missense	285533					integral to membrane	zinc ion binding	g.chr4:154644586C>G	BC034385	CCDS47149.1	4q31.3	2008-02-05			ENSG00000145428	ENSG00000145428		"""RING-type (C3HC4) zinc fingers"""	27735	protein-coding gene	gene with protein product							Standard	NM_173662		Approved	FLJ34190	uc003int.3	Q8N4F7	OTTHUMG00000161557	ENST00000347063.4:c.426G>C	4.37:g.154644586C>G	ENSP00000340979:p.Leu142Phe					RNF175_uc003inu.1_Missense_Mutation_p.L14F	p.L142F	NM_173662	NP_775933	Q8N4F7	RN175_HUMAN			5	799	-	all_hematologic(180;0.093)	Renal(120;0.118)	142					C9JL66|Q8NB61	Missense_Mutation	SNP	ENST00000347063.4	37	c.426G>C	CCDS47149.1	.	.	.	.	.	.	.	.	.	.	C	10.12	1.261935	0.23051	.	.	ENSG00000145428	ENST00000347063;ENST00000274068;ENST00000508248	T;T;T	0.68479	-0.33;-0.33;-0.33	4.28	-8.56	0.00904	.	0.000000	0.64402	D	0.000007	T	0.56529	0.1991	N	0.17838	0.53	0.25093	N	0.990843	D;B	0.65815	0.995;0.002	P;B	0.62382	0.901;0.003	T	0.64757	-0.6332	10	0.13108	T	0.6	-2.6608	14.0197	0.64545	0.0:0.2096:0.6633:0.1271	.	14;142	Q8NB61;Q8N4F7	.;RN175_HUMAN	F	142;14;82	ENSP00000340979:L142F;ENSP00000274068:L14F;ENSP00000427472:L82F	ENSP00000274068:L14F	L	-	3	2	RNF175	154864036	0.000000	0.05858	0.246000	0.24233	0.946000	0.59487	-4.200000	0.00275	-2.770000	0.00365	-1.113000	0.02065	TTG		0.358	RNF175-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365286.1	NM_173662		8	10	0	0	0	0.006214	0	8	10				
DCHS2	54798	broad.mit.edu	37	4	155219643	155219643	+	Silent	SNP	A	A	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:155219643A>G	ENST00000357232.4	-	18	4457	c.4458T>C	c.(4456-4458)tcT>tcC	p.S1486S		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1486	Cadherin 13. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CTTCTCTCACAGAGGACTGGT	0.463																																							uc003inw.2		NA																	0				ovary(3)|pancreas(1)	4						c.(4456-4458)TCT>TCC		dachsous 2 isoform 1							144.0	147.0	146.0					4																	155219643		2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155219643A>G	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.4458T>C	4.37:g.155219643A>G							p.S1486S	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	18	4458	-	all_hematologic(180;0.208)	Renal(120;0.0854)	1486			Cadherin 13.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.4458T>C	CCDS3785.1																																																																																				0.463	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		21	87	0	0	0	0.00333	0	21	87				
GRIA2	2891	broad.mit.edu	37	4	158281203	158281203	+	Silent	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:158281203T>A	ENST00000264426.9	+	13	2478	c.2199T>A	c.(2197-2199)atT>atA	p.I733I	AC079233.1_ENST00000578227.1_RNA|GRIA2_ENST00000507898.1_Silent_p.I686I|GRIA2_ENST00000449365.1_Silent_p.I686I|GRIA2_ENST00000296526.7_Silent_p.I733I|GRIA2_ENST00000393815.2_Silent_p.I686I	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	733					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	ACGAGTACATTGAGCAAAGGA	0.507																																							uc003ipm.3		NA																	0				central_nervous_system(3)|ovary(1)	4						c.(2197-2199)ATT>ATA		glutamate receptor, ionotropic, AMPA 2 isoform 2	L-Glutamic Acid(DB00142)						147.0	132.0	137.0					4																	158281203		2203	4300	6503	SO:0001819	synonymous_variant	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr4:158281203T>A		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.2199T>A	4.37:g.158281203T>A						GRIA2_uc011cit.1_Silent_p.I686I|GRIA2_uc003ipl.3_Silent_p.I733I|GRIA2_uc003ipk.3_Silent_p.I686I|GRIA2_uc010iqh.1_RNA|GRIA2_uc011ciu.1_Silent_p.I43I|GRIA2_uc011civ.1_RNA|GRIA2_uc011ciw.1_RNA|GRIA2_uc011cix.1_Silent_p.I43I|GRIA2_uc011ciy.1_Silent_p.I43I|GRIA2_uc011ciz.1_RNA	p.I733I	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	13	2658	+	all_hematologic(180;0.24)	Renal(120;0.0458)	733			Extracellular (Potential).		A8MT92|I6L997|Q96FP6	Silent	SNP	ENST00000264426.9	37	c.2199T>A	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	T	2.786	-0.252483	0.05829	.	.	ENSG00000120251	ENST00000510854	.	.	.	5.61	0.932	0.19466	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.9982	0.41913	0.0:0.665:0.0:0.335	.	.	.	.	R	64	.	.	X	+	1	0	GRIA2	158500653	0.537000	0.26386	0.995000	0.50966	0.840000	0.47671	-0.118000	0.10692	-0.151000	0.11176	-0.912000	0.02778	TGA		0.507	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			16	34	0	0	0	0.00499	0	16	34				
FSTL5	56884	broad.mit.edu	37	4	162307403	162307403	+	Missense_Mutation	SNP	G	G	T	rs368625257		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:162307403G>T	ENST00000306100.5	-	16	2476	c.2040C>A	c.(2038-2040)gaC>gaA	p.D680E	FSTL5_ENST00000379164.4_Missense_Mutation_p.D679E|FSTL5_ENST00000427802.2_Missense_Mutation_p.D670E|RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000536695.1_Missense_Mutation_p.D679E	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	680						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CAGTTACACCGTCCACCATGA	0.498																																							uc003iqh.2		NA																	0				ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8						c.(2038-2040)GAC>GAA		follistatin-like 5 isoform a							123.0	111.0	115.0					4																	162307403		2203	4300	6503	SO:0001583	missense	56884					extracellular region	calcium ion binding	g.chr4:162307403G>T	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.2040C>A	4.37:g.162307403G>T	ENSP00000305334:p.Asp680Glu					FSTL5_uc003iqi.2_Missense_Mutation_p.D679E|FSTL5_uc010iqv.2_Missense_Mutation_p.D670E|uc010iqu.1_RNA	p.D680E	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	16	2476	-	all_hematologic(180;0.24)		680					E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	c.2040C>A	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.878163	0.51801	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	5.42	1.74	0.24563	WD40/YVTN repeat-like-containing domain (1);	0.138959	0.64402	D	0.000006	T	0.48589	0.1508	M	0.74467	2.265	0.42460	D	0.992782	D;D;D	0.76494	0.988;0.999;0.988	P;D;P	0.70716	0.814;0.97;0.857	T	0.44574	-0.9319	10	0.87932	D	0	.	7.2072	0.25913	0.5162:0.0:0.4838:0.0	.	670;679;680	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	E	680;679;670;679	ENSP00000305334:D680E;ENSP00000368462:D679E;ENSP00000389270:D670E;ENSP00000440409:D679E	ENSP00000305334:D680E	D	-	3	2	FSTL5	162526853	0.943000	0.32029	0.466000	0.27168	0.566000	0.35808	1.129000	0.31381	0.258000	0.21686	0.563000	0.77884	GAC		0.498	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		18	25	1	0	2.39187e-15	0.008871	3.71838e-15	18	25				
FSTL5	56884	broad.mit.edu	37	4	162577522	162577522	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:162577522C>A	ENST00000306100.5	-	7	1288	c.852G>T	c.(850-852)agG>agT	p.R284S	FSTL5_ENST00000379164.4_Missense_Mutation_p.R283S|FSTL5_ENST00000427802.2_Missense_Mutation_p.R283S|FSTL5_ENST00000536695.1_Missense_Mutation_p.R283S|FSTL5_ENST00000511170.1_5'UTR	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	284	Ig-like 1.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TAATATTGTTCCTTTTCCAGA	0.348																																							uc003iqh.2		NA																	0				ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8						c.(850-852)AGG>AGT		follistatin-like 5 isoform a							60.0	61.0	61.0					4																	162577522		2203	4300	6503	SO:0001583	missense	56884					extracellular region	calcium ion binding	g.chr4:162577522C>A	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.852G>T	4.37:g.162577522C>A	ENSP00000305334:p.Arg284Ser					FSTL5_uc003iqi.2_Missense_Mutation_p.R283S|FSTL5_uc010iqv.2_Missense_Mutation_p.R283S	p.R284S	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	7	1288	-	all_hematologic(180;0.24)		284			Ig-like 1.		E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	c.852G>T	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.989859	0.54041	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.13196	2.61;2.61;2.61;2.61	5.38	1.49	0.22878	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.194619	0.49305	D	0.000142	T	0.29158	0.0725	M	0.85462	2.755	0.48632	D	0.999685	P;D;D	0.69078	0.939;0.997;0.96	P;P;P	0.62560	0.739;0.904;0.765	T	0.04294	-1.0962	10	0.87932	D	0	.	1.9916	0.03448	0.2167:0.4604:0.111:0.2119	.	283;283;284	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	S	284;283;283;283	ENSP00000305334:R284S;ENSP00000368462:R283S;ENSP00000389270:R283S;ENSP00000440409:R283S	ENSP00000305334:R284S	R	-	3	2	FSTL5	162796972	0.981000	0.34729	0.995000	0.50966	0.958000	0.62258	0.167000	0.16602	0.340000	0.23745	0.650000	0.86243	AGG		0.348	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		4	27	1	0	1.23904e-05	0.000602	1.44506e-05	4	27				
FSTL5	56884	broad.mit.edu	37	4	162680600	162680600	+	Missense_Mutation	SNP	G	G	T	rs374948632		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:162680600G>T	ENST00000306100.5	-	6	1126	c.690C>A	c.(688-690)gaC>gaA	p.D230E	FSTL5_ENST00000379164.4_Missense_Mutation_p.D229E|FSTL5_ENST00000427802.2_Missense_Mutation_p.D229E|FSTL5_ENST00000536695.1_Missense_Mutation_p.D229E	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	230	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CCAGGTGCTTGTCAGCATTAA	0.333																																							uc003iqh.2		NA																	0				ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8						c.(688-690)GAC>GAA		follistatin-like 5 isoform a							93.0	101.0	98.0					4																	162680600		2203	4299	6502	SO:0001583	missense	56884					extracellular region	calcium ion binding	g.chr4:162680600G>T	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.690C>A	4.37:g.162680600G>T	ENSP00000305334:p.Asp230Glu					FSTL5_uc003iqi.2_Missense_Mutation_p.D229E|FSTL5_uc010iqv.2_Missense_Mutation_p.D229E	p.D230E	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	6	1126	-	all_hematologic(180;0.24)		230			2 (Potential).|EF-hand 2.		E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	c.690C>A	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.973165	0.74246	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	5.37	5.37	0.77165	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.58148	0.2102	M	0.92649	3.33	0.53688	D	0.999975	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.78314	0.991;0.988;0.991	T	0.66496	-0.5909	10	0.62326	D	0.03	.	11.5462	0.50694	0.0819:0.0:0.9181:0.0	.	229;229;230	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	E	230;229;229;229	ENSP00000305334:D230E;ENSP00000368462:D229E;ENSP00000389270:D229E;ENSP00000440409:D229E	ENSP00000305334:D230E	D	-	3	2	FSTL5	162900050	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	3.863000	0.56016	2.510000	0.84645	0.579000	0.79373	GAC		0.333	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		13	28	1	0	4.36969e-10	0.001855	6.03318e-10	13	28				
NPY1R	4886	broad.mit.edu	37	4	164246676	164246676	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:164246676A>T	ENST00000296533.2	-	3	1465	c.934T>A	c.(934-936)Tcc>Acc	p.S312T	NPY1R_ENST00000509586.1_Missense_Mutation_p.S69T	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	312					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose metabolic process (GO:0006006)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|regulation of blood pressure (GO:0008217)|regulation of multicellular organism growth (GO:0040014)|sensory perception of pain (GO:0019233)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ACACAAGTGGATATCATTGCT	0.418																																							uc003iqm.1		NA																	0				lung(1)|pancreas(1)	2						c.(934-936)TCC>ACC		neuropeptide Y receptor Y1							93.0	101.0	98.0					4																	164246676		2203	4300	6503	SO:0001583	missense	4886				inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding	g.chr4:164246676A>T		CCDS34089.1	4q31.3-q32	2012-08-08				ENSG00000164128		"""GPCR / Class A : Neuropeptide receptors : Y"""	7956	protein-coding gene	gene with protein product		162641		NPYR		8095935	Standard	NM_000909		Approved		uc003iqm.2	P25929		ENST00000296533.2:c.934T>A	4.37:g.164246676A>T	ENSP00000354652:p.Ser312Thr					NPY1R_uc011cjj.1_Missense_Mutation_p.S69T	p.S312T	NM_000909	NP_000900	P25929	NPY1R_HUMAN			3	1200	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	312			Helical; Name=7; (Potential).		B2R6H5	Missense_Mutation	SNP	ENST00000296533.2	37	c.934T>A	CCDS34089.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.296615	0.81025	.	.	ENSG00000164128	ENST00000296533;ENST00000509586	T;T	0.67865	-0.29;-0.29	5.48	5.48	0.80851	GPCR, rhodopsin-like superfamily (1);	0.072300	0.56097	D	0.000024	D	0.85813	0.5784	M	0.92412	3.305	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89317	0.3637	10	0.72032	D	0.01	.	15.5707	0.76333	1.0:0.0:0.0:0.0	.	312	P25929	NPY1R_HUMAN	T	312;69	ENSP00000354652:S312T;ENSP00000427284:S69T	ENSP00000354652:S312T	S	-	1	0	NPY1R	164466126	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.283000	0.95860	2.074000	0.62210	0.533000	0.62120	TCC		0.418	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364685.1			4	46	0	0	0	0.009096	0	4	46				
VEGFC	7424	broad.mit.edu	37	4	177608569	177608569	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:177608569G>C	ENST00000280193.2	-	6	1332	c.917C>G	c.(916-918)cCc>cGc	p.P306R	VEGFC_ENST00000507638.1_5'Flank|RP11-313E19.2_ENST00000504017.1_RNA|RP11-313E19.2_ENST00000509194.1_RNA	NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	306	4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|induction of positive chemotaxis (GO:0050930)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein secretion (GO:0050714)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to drug (GO:0042493)|signal transduction (GO:0007165)|substrate-dependent cell migration (GO:0006929)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		TTCTTTGTGGGGTCCACAGCT	0.507																																							uc003ius.1		NA																	0				lung(5)	5						c.(916-918)CCC>CGC		vascular endothelial growth factor C							134.0	121.0	125.0					4																	177608569		1933	4147	6080	SO:0001583	missense	7424				angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity	g.chr4:177608569G>C	BC035212	CCDS43285.1	4q34.3	2013-02-18				ENSG00000150630			12682	protein-coding gene	gene with protein product	"""vascular endothelial growth factor-related protein"""	601528				8617204	Standard	NM_005429		Approved	VRP	uc003ius.1	P49767		ENST00000280193.2:c.917C>G	4.37:g.177608569G>C	ENSP00000280193:p.Pro306Arg						p.P306R	NM_005429	NP_005420	P49767	VEGFC_HUMAN		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)	6	1347	-		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)	306			4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.|2.		B2R9Q8	Missense_Mutation	SNP	ENST00000280193.2	37	c.917C>G	CCDS43285.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.515982	0.85495	.	.	ENSG00000150630	ENST00000280193	.	.	.	5.73	5.73	0.89815	.	0.127031	0.53938	D	0.000044	T	0.63558	0.2521	M	0.65975	2.015	0.80722	D	1	P	0.50272	0.933	P	0.48030	0.564	T	0.58858	-0.7562	9	0.13470	T	0.59	-14.4692	19.9099	0.97023	0.0:0.0:1.0:0.0	.	306	P49767	VEGFC_HUMAN	R	306	.	ENSP00000280193:P306R	P	-	2	0	VEGFC	177845563	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.225000	0.95219	2.691000	0.91804	0.650000	0.86243	CCC		0.507	VEGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361991.1	NM_005429		10	66	0	0	0	0.006214	0	10	66				
RWDD4	201965	broad.mit.edu	37	4	184567667	184567667	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:184567667C>A	ENST00000326397.5	-	6	777	c.505G>T	c.(505-507)Ggc>Tgc	p.G169C	RWDD4_ENST00000327570.9_Missense_Mutation_p.G169C|RWDD4_ENST00000512740.1_Missense_Mutation_p.G106C|RWDD4_ENST00000510968.1_Missense_Mutation_p.G74C	NM_152682.2	NP_689895.2	Q6NW29	RWDD4_HUMAN	RWD domain containing 4	169										large_intestine(2)|lung(4)|ovary(1)|prostate(1)	8						CAGTTCCAGCCTCGAGGAAGT	0.274																																							uc003ivt.1		NA																	0					0						c.(505-507)GGC>TGC		RWD domain containing 4A							64.0	74.0	70.0					4																	184567667		2201	4290	6491	SO:0001583	missense	201965							g.chr4:184567667C>A	BC017472	CCDS34111.1	4q35.1	2012-12-07	2010-09-30	2010-09-30	ENSG00000182552	ENSG00000182552			23750	protein-coding gene	gene with protein product			"""family with sequence similarity 28, member A"", ""RWD domain containing 4A"""	FAM28A, RWDD4A			Standard	NM_152682		Approved	MGC10198	uc003ivt.1	Q6NW29	OTTHUMG00000160632	ENST00000326397.5:c.505G>T	4.37:g.184567667C>A	ENSP00000388920:p.Gly169Cys					RWDD4A_uc003ivu.1_RNA|RWDD4A_uc003ivv.1_Missense_Mutation_p.G106C|RWDD4A_uc011ckl.1_RNA	p.G169C	NM_152682	NP_689895	Q6NW29	RWDD4_HUMAN		all cancers(43;7.35e-27)|Epithelial(43;1.49e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.76e-10)|GBM - Glioblastoma multiforme(59;5.54e-06)|Colorectal(24;7.92e-06)|STAD - Stomach adenocarcinoma(60;2.35e-05)|COAD - Colon adenocarcinoma(29;6.26e-05)|LUSC - Lung squamous cell carcinoma(40;0.00935)|READ - Rectum adenocarcinoma(43;0.166)	6	731	-		all_lung(41;4.4e-14)|Lung NSC(41;1.03e-13)|Colorectal(36;0.00139)|all_hematologic(60;0.00756)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.202)	169					B2RDE9|B4DDP2|Q75LA9|Q8WVW2	Missense_Mutation	SNP	ENST00000326397.5	37	c.505G>T	CCDS34111.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.494114	0.85069	.	.	ENSG00000182552	ENST00000326397;ENST00000327570;ENST00000510968;ENST00000512740	T;T;T;T	0.77750	-0.89;-0.91;-1.12;-1.02	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	D	0.90256	0.6953	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92071	0.5664	10	0.87932	D	0	-14.7057	18.7379	0.91763	0.0:1.0:0.0:0.0	.	169	Q6NW29	RWDD4_HUMAN	C	169;169;74;106	ENSP00000388920:G169C;ENSP00000332177:G169C;ENSP00000426329:G74C;ENSP00000423598:G106C	ENSP00000388920:G169C	G	-	1	0	RWDD4	184804661	1.000000	0.71417	0.991000	0.47740	0.966000	0.64601	7.055000	0.76656	2.421000	0.82119	0.561000	0.74099	GGC		0.274	RWDD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361499.2	NM_152682		34	49	1	0	3.43241e-23	0.009718	5.87342e-23	34	49				
FAM149A	25854	broad.mit.edu	37	4	187084032	187084032	+	Missense_Mutation	SNP	A	A	C	rs545080144		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:187084032A>C	ENST00000356371.5	+	9	1636	c.1636A>C	c.(1636-1638)Atg>Ctg	p.M546L	FAM149A_ENST00000514153.1_Missense_Mutation_p.M255L|FAM149A_ENST00000503432.1_Missense_Mutation_p.M255L|FAM149A_ENST00000227065.4_Missense_Mutation_p.M255L|FAM149A_ENST00000502970.1_Missense_Mutation_p.M255L|FAM149A_ENST00000389354.5_Missense_Mutation_p.M255L			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	546										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		TTATAGTGACATGAATGGTGT	0.383																																							uc003iyt.3		NA																	0				breast(1)	1						c.(763-765)ATG>CTG		hypothetical protein LOC25854							62.0	60.0	61.0					4																	187084032		2203	4300	6503	SO:0001583	missense	25854							g.chr4:187084032A>C	AK057166	CCDS34117.1	4q35.1	2012-04-19			ENSG00000109794	ENSG00000109794			24527	protein-coding gene	gene with protein product							Standard	NM_015398		Approved	DKFZP564J102, MST119, MSTP119	uc010isl.3	A5PLN7	OTTHUMG00000160565	ENST00000356371.5:c.1636A>C	4.37:g.187084032A>C	ENSP00000348732:p.Met546Leu					FAM149A_uc011cla.1_Missense_Mutation_p.M255L|FAM149A_uc003iyu.3_Missense_Mutation_p.M255L|FAM149A_uc010isl.2_Missense_Mutation_p.M255L|FAM149A_uc011clb.1_Missense_Mutation_p.M255L	p.M255L	NM_015398	NP_056213	A5PLN7	F149A_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)	9	1342	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	546					B5MDB8|Q2TAN6|Q7Z2S5|Q9Y4T9	Missense_Mutation	SNP	ENST00000356371.5	37	c.763A>C		.	.	.	.	.	.	.	.	.	.	a	0.030	-1.340403	0.01277	.	.	ENSG00000109794	ENST00000503432;ENST00000356371;ENST00000227065;ENST00000502970;ENST00000514153;ENST00000389354	T;T;T;T;T;T	0.03717	3.83;3.9;3.83;3.83;3.83;3.83	4.96	-0.335	0.12662	.	0.229491	0.29908	N	0.010898	T	0.00815	0.0027	N	0.00500	-1.43	0.19945	N	0.999941	B;B	0.09022	0.002;0.001	B;B	0.04013	0.001;0.0	T	0.46414	-0.9193	10	0.02654	T	1	-7.7948	5.1294	0.14901	0.1326:0.2946:0.0:0.5728	.	546;546	A5PLN7-3;A5PLN7	.;F149A_HUMAN	L	255;546;255;255;255;255	ENSP00000426835:M255L;ENSP00000348732:M546L;ENSP00000227065:M255L;ENSP00000427155:M255L;ENSP00000424380:M255L;ENSP00000374005:M255L	ENSP00000227065:M255L	M	+	1	0	FAM149A	187321026	1.000000	0.71417	0.985000	0.45067	0.299000	0.27559	1.240000	0.32731	0.018000	0.15052	0.255000	0.18592	ATG		0.383	FAM149A-201	KNOWN	basic	protein_coding	protein_coding		NM_001006655		20	28	0	0	0	0.00333	0	20	28				
ADCY2	108	broad.mit.edu	37	5	7626284	7626284	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:7626284T>C	ENST00000338316.4	+	4	664	c.575T>C	c.(574-576)cTg>cCg	p.L192P		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	192				VWQILANVIIFICGNLAGAY -> GLADPGQCDHFHLWEPG XTN (in Ref. 1; AAP97285). {ECO:0000305}.	activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CTTTAGATCCTGGCCAATGTG	0.438																																							uc003jdz.1		NA																	0				ovary(5)|pancreas(1)|skin(1)	7						c.(574-576)CTG>CCG		adenylate cyclase 2							161.0	156.0	158.0					5																	7626284		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7626284T>C	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.575T>C	5.37:g.7626284T>C	ENSP00000342952:p.Leu192Pro						p.L192P	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			4	642	+			192	VWQILANVIIFICGNLAGAY -> GLADPGQCDHFHLWEPG XTN (in Ref. 1; AAP97285).		Helical; (Potential).		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.575T>C	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	T	23.0	4.360635	0.82353	.	.	ENSG00000078295	ENST00000338316;ENST00000541993	T	0.79653	-1.29	5.09	5.09	0.68999	.	0.262458	0.31809	N	0.007022	D	0.85208	0.5644	M	0.66439	2.03	0.80722	D	1	D	0.53619	0.961	P	0.55391	0.775	D	0.86734	0.1950	10	0.66056	D	0.02	.	12.9201	0.58226	0.0:0.0:0.0:1.0	.	192	Q08462	ADCY2_HUMAN	P	192;43	ENSP00000342952:L192P	ENSP00000342952:L192P	L	+	2	0	ADCY2	7679284	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.338000	0.79269	2.039000	0.60335	0.533000	0.62120	CTG		0.438	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		19	108	0	0	0	0.002299	0	19	108				
CTNND2	1501	broad.mit.edu	37	5	11199587	11199587	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:11199587C>G	ENST00000304623.8	-	11	2137	c.1948G>C	c.(1948-1950)Gac>Cac	p.D650H	CTNND2_ENST00000458100.2_Missense_Mutation_p.D217H|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.D559H|CTNND2_ENST00000503622.1_Missense_Mutation_p.D313H|CTNND2_ENST00000359640.2_Missense_Mutation_p.D650H	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	650					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.D650N(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						ATCTCCAGGTCAGTCGTCTTG	0.428																																							uc003jfa.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(1948-1950)GAC>CAC		catenin (cadherin-associated protein), delta 2							142.0	143.0	142.0					5																	11199587		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11199587C>G	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1948G>C	5.37:g.11199587C>G	ENSP00000307134:p.Asp650His					CTNND2_uc010itt.2_Missense_Mutation_p.D559H|CTNND2_uc011cmy.1_Missense_Mutation_p.D313H|CTNND2_uc011cmz.1_Missense_Mutation_p.D217H|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.D217H	p.D650H	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			11	2093	-			650			ARM 4.		B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.1948G>C	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.711726	0.89112	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000458100;ENST00000503622	T;T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71;-0.71	5.79	5.79	0.91817	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.86372	0.5917	M	0.83774	2.66	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.87370	0.2350	10	0.87932	D	0	-30.8748	20.0474	0.97616	0.0:1.0:0.0:0.0	.	313;217;650	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	H	650;650;559;217;313	ENSP00000307134:D650H;ENSP00000352661:D650H;ENSP00000426510:D559H;ENSP00000391155:D217H;ENSP00000426887:D313H	ENSP00000307134:D650H	D	-	1	0	CTNND2	11252587	1.000000	0.71417	0.983000	0.44433	0.996000	0.88848	7.484000	0.81180	2.722000	0.93159	0.655000	0.94253	GAC		0.428	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		17	123	0	0	0	0.00278	0	17	123				
FBXL7	23194	broad.mit.edu	37	5	15936592	15936592	+	Missense_Mutation	SNP	G	G	T	rs189208873		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:15936592G>T	ENST00000504595.1	+	4	1254	c.773G>T	c.(772-774)cGg>cTg	p.R258L	MIR887_ENST00000401258.1_RNA|FBXL7_ENST00000510662.1_Missense_Mutation_p.R211L|FBXL7_ENST00000329673.7_Missense_Mutation_p.R246L	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	258					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						AGCTTGACCCGGGAGGCCTCC	0.582																																							uc003jfn.1		NA																	0				ovary(2)|lung(1)	3						c.(772-774)CGG>CTG		F-box and leucine-rich repeat protein 7		G	LEU/ARG	0,4200		0,0,2100	53.0	54.0	53.0		773	5.3	1.0	5		53	1,8437		0,1,4218	no	missense	FBXL7	NM_012304.3	102	0,1,6318	TT,TG,GG		0.0119,0.0,0.0079	benign	258/492	15936592	1,12637	2100	4219	6319	SO:0001583	missense	23194				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:15936592G>T	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.773G>T	5.37:g.15936592G>T	ENSP00000423630:p.Arg258Leu						p.R258L	NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN			4	1254	+			258			LRR 4.		B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	ENST00000504595.1	37	c.773G>T	CCDS54833.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.120900	0.37436	0.0	1.19E-4	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.53206	0.63;0.63;0.63	5.31	5.31	0.75309	.	0.053169	0.85682	D	0.000000	T	0.39489	0.1080	L	0.28400	0.85	0.58432	D	0.999994	B	0.15930	0.015	B	0.11329	0.006	T	0.12528	-1.0544	10	0.26408	T	0.33	.	18.9742	0.92728	0.0:0.0:1.0:0.0	.	258	Q9UJT9	FBXL7_HUMAN	L	258;211;246	ENSP00000423630:R258L;ENSP00000425184:R211L;ENSP00000329632:R246L	ENSP00000329632:R246L	R	+	2	0	FBXL7	15989592	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.264000	0.65513	2.495000	0.84180	0.655000	0.94253	CGG		0.582	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		11	22	1	0	1.08611e-07	0.000978	1.38156e-07	11	22				
MYO10	4651	broad.mit.edu	37	5	16701710	16701710	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:16701710C>A	ENST00000513610.1	-	25	3248	c.2794G>T	c.(2794-2796)Gag>Tag	p.E932*	MYO10_ENST00000505695.1_Nonsense_Mutation_p.E271*|MYO10_ENST00000515803.1_Nonsense_Mutation_p.E271*|MYO10_ENST00000512061.1_5'Flank|MYO10_ENST00000274203.9_Nonsense_Mutation_p.E289*|MYO10_ENST00000427430.2_Nonsense_Mutation_p.E289*	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	932	Mediates antiparallel dimerization.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CACGCTTCCTCCTCCAGCCTG	0.647																																							uc003jft.3		NA																	0				ovary(2)|pancreas(1)	3						c.(2794-2796)GAG>TAG		myosin X							27.0	31.0	30.0					5																	16701710		2160	4279	6439	SO:0001587	stop_gained	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16701710C>A	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.2794G>T	5.37:g.16701710C>A	ENSP00000421280:p.Glu932*					MYO10_uc011cnc.1_5'Flank|MYO10_uc011cnd.1_Nonsense_Mutation_p.E289*|MYO10_uc011cne.1_Nonsense_Mutation_p.E289*|MYO10_uc010itx.2_Nonsense_Mutation_p.E555*	p.E932*	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN			25	3262	-			932			Potential.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Nonsense_Mutation	SNP	ENST00000513610.1	37	c.2794G>T	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	C	39	7.752985	0.98471	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	.	18.3304	0.90267	0.0:1.0:0.0:0.0	.	.	.	.	X	932;271;289;271;289	.	ENSP00000274203:E289X	E	-	1	0	MYO10	16754710	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	4.885000	0.63142	2.312000	0.78011	0.563000	0.77884	GAG		0.647	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		4	10	1	0	0.00024832	0.009096	0.000277424	4	10				
CDH18	1016	broad.mit.edu	37	5	19838916	19838916	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:19838916G>A	ENST00000507958.1	-	5	1170	c.180C>T	c.(178-180)ttC>ttT	p.F60F	CDH18_ENST00000506372.1_Silent_p.F60F|CDH18_ENST00000502796.1_Silent_p.F60F|CDH18_ENST00000274170.4_Silent_p.F60F|CDH18_ENST00000382275.1_Silent_p.F60F|CDH18_ENST00000511273.1_Silent_p.F60F			Q13634	CAD18_HUMAN	cadherin 18, type 2	60	Cadherin 1. {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)					CTAAAACAAAGAACTGATTCC	0.403																																							uc003jgc.2		NA																	0				ovary(5)|large_intestine(1)|skin(1)	7						c.(178-180)TTC>TTT		cadherin 18, type 2 preproprotein							154.0	133.0	140.0					5																	19838916		2203	4300	6503	SO:0001819	synonymous_variant	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19838916G>A	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.180C>T	5.37:g.19838916G>A						CDH18_uc003jgd.2_Silent_p.F60F|CDH18_uc011cnm.1_Silent_p.F60F	p.F60F	NM_004934	NP_004925	Q13634	CAD18_HUMAN			2	557	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		60			Extracellular (Potential).|Cadherin 1.		A8K0I2|B4DHG6|Q8N5Z2	Silent	SNP	ENST00000507958.1	37	c.180C>T	CCDS3889.1																																																																																				0.403	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		11	22	0	0	0	0.003163	0	11	22				
CDH12	1010	broad.mit.edu	37	5	21751939	21751939	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:21751939G>T	ENST00000382254.1	-	15	3378	c.2292C>A	c.(2290-2292)gaC>gaA	p.D764E	RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.D764E|CDH12_ENST00000522262.1_Missense_Mutation_p.D724E	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	764					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)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GATAGTCATAGTCCTGGTCGG	0.507										HNSCC(59;0.17)																													uc010iuc.2		NA																	0				ovary(2)	2						c.(2290-2292)GAC>GAA		cadherin 12, type 2 preproprotein							119.0	112.0	115.0					5																	21751939		2203	4300	6503	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21751939G>T	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.2292C>A	5.37:g.21751939G>T	ENSP00000371689:p.Asp764Glu	HNSCC(59;0.17)				CDH12_uc011cno.1_Missense_Mutation_p.D724E|CDH12_uc003jgk.2_Missense_Mutation_p.D764E|uc003jgj.2_Intron	p.D764E	NM_004061	NP_004052	P55289	CAD12_HUMAN			12	2750	-			764			Cytoplasmic (Potential).		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.2292C>A	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.824023	0.32237	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.78126	-1.15;-1.15;-1.15	5.18	1.95	0.26073	Cadherin, cytoplasmic domain (1);	0.094194	0.64402	D	0.000001	T	0.69611	0.3130	L	0.42632	1.34	0.42333	D	0.992304	B;B	0.22983	0.078;0.01	B;B	0.36766	0.232;0.007	T	0.63484	-0.6627	10	0.52906	T	0.07	.	3.8797	0.09072	0.3751:0.0:0.4544:0.1705	.	724;764	B7Z2U6;P55289	.;CAD12_HUMAN	E	764;764;724	ENSP00000423577:D764E;ENSP00000371689:D764E;ENSP00000428786:D724E	ENSP00000371689:D764E	D	-	3	2	CDH12	21787696	1.000000	0.71417	0.998000	0.56505	0.821000	0.46438	1.172000	0.31908	0.575000	0.29434	0.467000	0.42956	GAC		0.507	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		27	56	1	0	9.78485e-24	0.002836	1.68015e-23	27	56				
PRDM9	56979	broad.mit.edu	37	5	23526721	23526721	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:23526721C>A	ENST00000296682.3	+	11	1706	c.1524C>A	c.(1522-1524)aaC>aaA	p.N508K		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	508					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ATCCAGGGAACACAGGCAAAT	0.428										HNSCC(3;0.000094)																													uc003jgo.2		NA																	0				ovary(3)|large_intestine(2)|pancreas(1)	6						c.(1522-1524)AAC>AAA		PR domain containing 9							85.0	84.0	84.0					5																	23526721		1993	4169	6162	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23526721C>A	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1524C>A	5.37:g.23526721C>A	ENSP00000296682:p.Asn508Lys	HNSCC(3;0.000094)					p.N508K	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			11	1706	+			508					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.1524C>A	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	C	8.160	0.789299	0.16258	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.08102	3.13	2.71	-2.28	0.06826	.	0.442914	0.16631	N	0.206079	T	0.03959	0.0111	N	0.22421	0.69	0.09310	N	1	B	0.25609	0.13	B	0.18263	0.021	T	0.31194	-0.9952	10	0.51188	T	0.08	-0.3961	1.9578	0.03380	0.4849:0.2392:0.1601:0.1158	.	508	Q9NQV7	PRDM9_HUMAN	K	508;302	ENSP00000296682:N508K	ENSP00000253473:N302K	N	+	3	2	PRDM9	23562478	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.646000	0.01998	-0.564000	0.06070	-0.444000	0.05651	AAC		0.428	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		15	41	1	0	0.00400662	0.004007	0.0042678	15	41				
CDH6	1004	broad.mit.edu	37	5	31317493	31317493	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:31317493C>A	ENST00000265071.2	+	10	1789	c.1524C>A	c.(1522-1524)acC>acA	p.T508T	CDH6_ENST00000514738.1_Silent_p.T453T	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	508	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TGATTCAGACCCTGCATGCTG	0.393																																							uc003jhe.1		NA																	0				ovary(4)|skin(2)|large_intestine(1)	7						c.(1522-1524)ACC>ACA		cadherin 6, type 2 preproprotein							83.0	77.0	79.0					5																	31317493		2203	4300	6503	SO:0001819	synonymous_variant	1004				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31317493C>A	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.1524C>A	5.37:g.31317493C>A						CDH6_uc003jhd.1_Silent_p.T508T	p.T508T	NM_004932	NP_004923	P55285	CADH6_HUMAN			10	1850	+			508			Extracellular (Potential).|Cadherin 5.		A8K5H5|Q9BWS0	Silent	SNP	ENST00000265071.2	37	c.1524C>A	CCDS3894.1																																																																																				0.393	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		21	43	1	0	1.10923e-09	0.00278	1.52021e-09	21	43				
IL7R	3575	broad.mit.edu	37	5	35876369	35876369	+	Silent	SNP	C	C	A	rs139678300		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:35876369C>A	ENST00000303115.3	+	8	1290	c.1161C>A	c.(1159-1161)tcC>tcA	p.S387S	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	387					B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			CTTCCAGGTCCCTAGACTGCA	0.537			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency																																uc003jjs.2		NA		Dom	yes		5	5p13	146661		interleukin 7 receptor	yes		L					0				ovary(3)|breast(1)|skin(1)	5						c.(1159-1161)TCC>TCA		interleukin 7 receptor precursor							93.0	84.0	87.0					5																	35876369		2203	4300	6503	SO:0001819	synonymous_variant	3575				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	g.chr5:35876369C>A	M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.1161C>A	5.37:g.35876369C>A						IL7R_uc011cop.1_RNA	p.S387S	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)		8	1250	+	all_lung(31;0.00015)		387			Cytoplasmic (Potential).		B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Silent	SNP	ENST00000303115.3	37	c.1161C>A	CCDS3911.1																																																																																				0.537	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2			5	34	1	0	3.59834e-05	0.001168	4.13823e-05	5	34				
UGT3A1	133688	broad.mit.edu	37	5	35955804	35955804	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:35955804T>A	ENST00000274278.3	-	6	1595	c.1238A>T	c.(1237-1239)aAt>aTt	p.N413I	UGT3A1_ENST00000507113.1_Missense_Mutation_p.N379I|UGT3A1_ENST00000503189.1_Missense_Mutation_p.N413I|UGT3A1_ENST00000513233.1_5'Flank	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	413						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)			TGTGACCTGATTCAACCGGAT	0.468																																							uc003jjv.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1237-1239)AAT>ATT		UDP glycosyltransferase 3 family, polypeptide A1							241.0	207.0	219.0					5																	35955804		2203	4300	6503	SO:0001583	missense	133688					integral to membrane	glucuronosyltransferase activity	g.chr5:35955804T>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.1238A>T	5.37:g.35955804T>A	ENSP00000274278:p.Asn413Ile					UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Missense_Mutation_p.N413I|UGT3A1_uc011cor.1_Missense_Mutation_p.N379I	p.N413I	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		6	1395	-	all_lung(31;0.000197)		413			Extracellular (Potential).		G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP	ENST00000274278.3	37	c.1238A>T	CCDS3913.1	.	.	.	.	.	.	.	.	.	.	.	8.101	0.776764	0.16120	.	.	ENSG00000145626	ENST00000274278;ENST00000503189;ENST00000507113	T;T;T	0.59502	0.26;0.26;0.26	3.25	0.312	0.15837	.	0.958813	0.08512	U	0.934742	T	0.63212	0.2492	L	0.57536	1.79	0.09310	N	1	P;P;P	0.48407	0.745;0.91;0.843	P;P;P	0.54431	0.463;0.752;0.673	T	0.53542	-0.8424	10	0.35671	T	0.21	.	8.8368	0.35117	0.0:0.0:0.3586:0.6413	.	379;413;413	E9PD17;B7Z8Q8;Q6NUS8	.;.;UD3A1_HUMAN	I	413;413;379	ENSP00000274278:N413I;ENSP00000427079:N413I;ENSP00000426100:N379I	ENSP00000274278:N413I	N	-	2	0	UGT3A1	35991561	0.054000	0.20591	0.000000	0.03702	0.157000	0.22087	2.701000	0.47094	0.368000	0.24481	0.383000	0.25322	AAT		0.468	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404		29	72	0	0	0	0.003755	0	29	72				
C9	735	broad.mit.edu	37	5	39342283	39342283	+	Silent	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:39342283T>A	ENST00000263408.4	-	2	188	c.93A>T	c.(91-93)ctA>ctT	p.L31L	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	31					complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TGCTTTCTGTTAGCTCTGGGT	0.408																																							uc003jlv.3		NA																	0					0						c.(91-93)CTA>CTT		complement component 9 precursor							133.0	115.0	121.0					5																	39342283		2203	4300	6503	SO:0001819	synonymous_variant	735				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex		g.chr5:39342283T>A		CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"""Complement system"""	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.93A>T	5.37:g.39342283T>A							p.L31L	NM_001737	NP_001728	P02748	CO9_HUMAN	Epithelial(62;0.158)		2	182	-	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	31						Silent	SNP	ENST00000263408.4	37	c.93A>T	CCDS3929.1																																																																																				0.408	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3			9	28	0	0	0	0.000978	0	9	28				
DAB2	1601	broad.mit.edu	37	5	39390546	39390546	+	Splice_Site	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:39390546C>A	ENST00000320816.6	-	5	929	c.462G>T	c.(460-462)caG>caT	p.Q154H	DAB2_ENST00000545653.1_Splice_Site_p.Q154H|DAB2_ENST00000339788.6_Splice_Site_p.Q154H|DAB2_ENST00000509337.1_Splice_Site_p.Q154H|DAB2_ENST00000512525.1_5'UTR	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	154	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			TAGAGCTCACCTGTTGCCCGG	0.453																																							uc003jlx.2		NA																	0				kidney(2)|skin(1)	3						c.(460-462)CAG>CAT		disabled homolog 2							87.0	85.0	86.0					5																	39390546		2203	4300	6503	SO:0001630	splice_region_variant	1601				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding	g.chr5:39390546C>A	U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"""disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)"", ""disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"""			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.462+1G>T	5.37:g.39390546C>A						DAB2_uc003jlw.2_Missense_Mutation_p.Q154H	p.Q154H	NM_001343	NP_001334	P98082	DAB2_HUMAN	Epithelial(62;0.137)		5	993	-	all_lung(31;0.000197)		154			PID.		A6NES5|Q13598|Q9BTY0|Q9UK04	Missense_Mutation	SNP	ENST00000320816.6	37	c.462G>T	CCDS34149.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.546818	0.86022	.	.	ENSG00000153071	ENST00000320816;ENST00000339788;ENST00000545653;ENST00000509337	T;T;T;T	0.20463	2.07;2.07;2.07;2.07	5.6	4.73	0.59995	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.35038	0.0918	L	0.38531	1.155	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.73380	0.98;0.977	T	0.04017	-1.0984	9	.	.	.	-6.8874	14.842	0.70233	0.0:0.931:0.0:0.069	.	154;154	P98082;P98082-3	DAB2_HUMAN;.	H	154	ENSP00000313391:Q154H;ENSP00000345508:Q154H;ENSP00000439919:Q154H;ENSP00000426245:Q154H	.	Q	-	3	2	DAB2	39426303	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.576000	0.60915	1.504000	0.48704	0.650000	0.86243	CAG		0.453	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	NM_001343	Missense_Mutation	12	51	1	0	3.52763e-06	0.00499	4.24057e-06	12	51				
PLK2	10769	broad.mit.edu	37	5	57755550	57755550	+	Silent	SNP	C	C	T	rs533259497		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:57755550C>T	ENST00000274289.3	-	1	537	c.237G>A	c.(235-237)ggG>ggA	p.G79G	PLK2_ENST00000502671.1_5'Flank	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	79					G1/S transition of mitotic cell cycle (GO:0000082)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|mitotic cell cycle checkpoint (GO:0007093)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|Rap protein signal transduction (GO:0032486)|Ras protein signal transduction (GO:0007265)|regulation of centriole replication (GO:0046599)|regulation of synaptic plasticity (GO:0048167)	centriole (GO:0005814)|centrosome (GO:0005813)|dendrite (GO:0030425)|intracellular (GO:0005622)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		AGTAGCGCTTCCCAGTCGTGG	0.711													C|||	1	0.000199681	0.0	0.0	5008	,	,		12452	0.0		0.001	False		,,,				2504	0.0						uc003jrn.2		NA																	0				ovary(2)|lung(1)|skin(1)	4						c.(235-237)GGG>GGA		polo-like kinase 2							14.0	17.0	16.0					5																	57755550		2192	4285	6477	SO:0001819	synonymous_variant	10769				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr5:57755550C>T		CCDS3974.1, CCDS75250.1	5q12.1-q13.2	2013-01-18	2010-06-24		ENSG00000145632	ENSG00000145632			19699	protein-coding gene	gene with protein product	"""serum-inducible kinase"""	607023	"""polo-like kinase 2 (Drosophila)"""				Standard	NM_006622		Approved	SNK	uc003jrn.3	Q9NYY3	OTTHUMG00000097047	ENST00000274289.3:c.237G>A	5.37:g.57755550C>T						PLK2_uc011cql.1_5'Flank	p.G79G	NM_006622	NP_006613	Q9NYY3	PLK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)	1	364	-		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)	79					O60679|Q96CV7|Q9UE61	Silent	SNP	ENST00000274289.3	37	c.237G>A	CCDS3974.1																																																																																				0.711	PLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214150.1	NM_006622		3	11	0	0	0	0.009096	0	3	11				
HTR1A	3350	broad.mit.edu	37	5	63256719	63256719	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:63256719G>T	ENST00000323865.3	-	1	1061	c.828C>A	c.(826-828)tgC>tgA	p.C276*	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	276					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CGCCATTGGCGCACAGAGCAC	0.657																																							uc011cqt.1		NA																	0				ovary(2)|pancreas(2)	4						c.(826-828)TGC>TGA		5-hydroxytryptamine (serotonin) receptor 1A	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						50.0	46.0	47.0					5																	63256719		2203	4300	6503	SO:0001587	stop_gained	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63256719G>T	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.828C>A	5.37:g.63256719G>T	ENSP00000316244:p.Cys276*						p.C276*	NM_000524	NP_000515	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	828	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	276			Cytoplasmic (By similarity).		Q6LAE7	Nonsense_Mutation	SNP	ENST00000323865.3	37	c.828C>A	CCDS34168.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.731802	0.89390	.	.	ENSG00000178394	ENST00000323865	.	.	.	5.17	1.46	0.22682	.	0.056553	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	8.723	0.34452	0.4095:0.0:0.5905:0.0	.	.	.	.	X	276	.	ENSP00000316244:C276X	C	-	3	2	HTR1A	63292475	1.000000	0.71417	0.957000	0.39632	0.509000	0.34042	1.591000	0.36665	0.080000	0.16959	0.655000	0.94253	TGC		0.657	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		14	59	1	0	9.31168e-06	0.001855	1.10067e-05	14	59				
NAIP	4671	broad.mit.edu	37	5	70308510	70308510	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:70308510G>T	ENST00000517649.1	-	4	523	c.233C>A	c.(232-234)cCa>cAa	p.P78Q	NAIP_ENST00000503719.2_Intron|NAIP_ENST00000508426.2_Missense_Mutation_p.P78Q|NAIP_ENST00000194097.4_Missense_Mutation_p.P78Q|NAIP_ENST00000523981.1_Intron	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	78					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|metal ion binding (GO:0046872)			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		CATCTCCTGTGGTATCCATGA	0.488																																							uc003kar.1		NA																	0				central_nervous_system(1)	1						c.(232-234)CCA>CAA		NLR family, apoptosis inhibitory protein isoform							106.0	97.0	100.0					5																	70308510		2202	4296	6498	SO:0001583	missense	4671				anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding	g.chr5:70308510G>T	U19251	CCDS4009.1, CCDS43327.1	5q13.2	2010-06-16	2006-12-08	2006-12-08	ENSG00000249437	ENSG00000249437		"""Baculoviral IAP repeat containing"", ""Nucleotide-binding domain and leucine rich repeat containing"""	7634	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and BIR domain containing 1"", ""NLR family, BIR domain containing 1"""	600355	"""baculoviral IAP repeat-containing 1"""	BIRC1		7813013	Standard	NM_022892		Approved	NLRB1	uc003jyj.1	Q13075	OTTHUMG00000163318	ENST00000517649.1:c.233C>A	5.37:g.70308510G>T	ENSP00000428657:p.Pro78Gln					NAIP_uc003kat.1_Intron|NAIP_uc011crs.1_Missense_Mutation_p.P78Q|NAIP_uc003kas.1_Intron	p.P78Q	NM_004536	NP_004527	Q13075	BIRC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)	4	951	-		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)	78			BIR 1.		B9EG72|E9PHD1|O75857|Q13730|Q59GI6|Q8TDZ4|Q99796	Missense_Mutation	SNP	ENST00000517649.1	37	c.233C>A	CCDS4009.1	.	.	.	.	.	.	.	.	.	.	g	10.66	1.411768	0.25465	.	.	ENSG00000249437	ENST00000517649;ENST00000194097;ENST00000508426	T;T;T	0.74002	-0.8;-0.8;-0.8	3.06	3.06	0.35304	Baculoviral inhibition of apoptosis protein repeat (5);	0.264633	0.20146	U	0.098269	D	0.89399	0.6704	H	0.95645	3.7	0.09310	N	0.999998	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.98	T	0.81812	-0.0761	10	0.66056	D	0.02	.	14.0079	0.64475	0.0:0.0:1.0:0.0	.	78;78	E7EQW0;Q13075	.;BIRC1_HUMAN	Q	78	ENSP00000428657:P78Q;ENSP00000443944:P78Q;ENSP00000429545:P78Q	ENSP00000443944:P78Q	P	-	2	0	NAIP	70344266	0.977000	0.34250	0.024000	0.17045	0.182000	0.23217	4.384000	0.59607	2.011000	0.59026	0.430000	0.28490	CCA		0.488	NAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372649.6	NM_004536		9	44	1	0	1.12685e-05	0.004482	1.32356e-05	9	44				
ARHGEF28	64283	broad.mit.edu	37	5	73153602	73153602	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:73153602A>T	ENST00000426542.2	+	14	1932	c.1912A>T	c.(1912-1914)Aag>Tag	p.K638*	ARHGEF28_ENST00000296799.4_Nonsense_Mutation_p.K325*|ARHGEF28_ENST00000437974.1_Nonsense_Mutation_p.K638*|ARHGEF28_ENST00000513042.2_Nonsense_Mutation_p.K638*|ARHGEF28_ENST00000545377.1_Nonsense_Mutation_p.K638*|ARHGEF28_ENST00000296794.6_Nonsense_Mutation_p.K638*|ARHGEF28_ENST00000287898.5_Nonsense_Mutation_p.K638*			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	638					central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										GAATAAATCAAAGGTAATTAA	0.313																																							uc011csq.1		NA																	0					0						c.(1912-1914)AAG>TAG		Rho-guanine nucleotide exchange factor							43.0	41.0	42.0					5																	73153602		1798	4070	5868	SO:0001587	stop_gained	64283				cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding	g.chr5:73153602A>T		CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.1912A>T	5.37:g.73153602A>T	ENSP00000412175:p.Lys638*					RGNEF_uc003kcx.2_Nonsense_Mutation_p.K638*|RGNEF_uc010izf.2_Nonsense_Mutation_p.K638*|RGNEF_uc011csr.1_Nonsense_Mutation_p.K325*	p.K638*	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)	14	1923	+		Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)	638					B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Nonsense_Mutation	SNP	ENST00000426542.2	37	c.1912A>T	CCDS54870.1	.	.	.	.	.	.	.	.	.	.	A	40	8.095106	0.98651	.	.	ENSG00000214944	ENST00000296794;ENST00000545377;ENST00000513042;ENST00000287898;ENST00000437974;ENST00000426542;ENST00000296799	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.2795	0.73770	1.0:0.0:0.0:0.0	.	.	.	.	X	638;638;638;638;638;638;325	.	ENSP00000287898:K638X	K	+	1	0	RP11-428C6.1	73189358	1.000000	0.71417	0.929000	0.37066	0.912000	0.54170	8.605000	0.90883	2.114000	0.64651	0.528000	0.53228	AAG		0.313	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368975.1			6	11	0	0	0	0.001984	0	6	11				
SV2C	22987	broad.mit.edu	37	5	75427638	75427638	+	Missense_Mutation	SNP	G	G	T	rs202024052		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:75427638G>T	ENST00000502798.2	+	2	505	c.63G>T	c.(61-63)gaG>gaT	p.E21D	SV2C_ENST00000322285.7_Missense_Mutation_p.E21D	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	21	Interaction with SYT1. {ECO:0000250}.				neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TTGCCAGAGAGGTGAAGAAAC	0.458																																							uc003kei.1		NA																	0				skin(1)	1						c.(61-63)GAG>GAT		synaptic vesicle glycoprotein 2C							142.0	135.0	137.0					5																	75427638		1951	4162	6113	SO:0001583	missense	22987				neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr5:75427638G>T	AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012			30670	protein-coding gene	gene with protein product		610291				10470851, 9801366	Standard	XM_005248470		Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.63G>T	5.37:g.75427638G>T	ENSP00000423541:p.Glu21Asp						p.E21D	NM_014979	NP_055794	Q496J9	SV2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)	2	197	+		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)	21			Interaction with SYT1 (By similarity).|Cytoplasmic (Potential).		Q496K1|Q9UPU8	Missense_Mutation	SNP	ENST00000502798.2	37	c.63G>T	CCDS43331.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.973474	0.74246	.	.	ENSG00000122012	ENST00000502798;ENST00000322285	T;T	0.34472	1.36;1.36	5.76	3.96	0.45880	Major facilitator superfamily domain, general substrate transporter (1);	0.112687	0.64402	D	0.000011	T	0.53610	0.1807	M	0.71581	2.175	0.58432	D	0.999995	D	0.61697	0.99	D	0.64506	0.926	T	0.56408	-0.7984	10	0.62326	D	0.03	-27.522	9.9188	0.41450	0.2099:0.0:0.7901:0.0	.	21	Q496J9	SV2C_HUMAN	D	21	ENSP00000423541:E21D;ENSP00000316983:E21D	ENSP00000316983:E21D	E	+	3	2	SV2C	75463394	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	1.648000	0.37271	1.430000	0.47334	0.655000	0.94253	GAG		0.458	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368700.4			19	31	1	0	2.89027e-11	0.002299	4.10098e-11	19	31				
ATP6AP1L	92270	broad.mit.edu	37	5	81608634	81608634	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:81608634G>T	ENST00000380167.4	+	9	1661	c.336G>T	c.(334-336)ggG>ggT	p.G112G	ATP6AP1L_ENST00000508366.1_3'UTR|ATP6AP1L_ENST00000439350.1_Silent_p.G112G			Q52LC2	VAS1L_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1-like	112					ATP hydrolysis coupled proton transport (GO:0015991)	integral component of membrane (GO:0016021)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						CGGATGATGGGTCGAGCCTGT	0.532											OREG0016689	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003khv.2		NA																	0					0						c.(334-336)GGG>GGT		ATPase, H+ transporting, lysosomal accessory							79.0	82.0	81.0					5																	81608634		2203	4300	6503	SO:0001819	synonymous_variant	92270				ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr5:81608634G>T	AK022625	CCDS34196.1	5q14.2	2010-03-10				ENSG00000205464			28091	protein-coding gene	gene with protein product							Standard	XR_112744		Approved		uc003khw.3	Q52LC2		ENST00000380167.4:c.336G>T	5.37:g.81608634G>T			OREG0016689	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1207	ATP6AP1L_uc003khw.2_Silent_p.G112G	p.G112G	NM_001017971	NP_001017971	Q52LC2	VAS1L_HUMAN			9	1661	+			112						Silent	SNP	ENST00000380167.4	37	c.336G>T	CCDS34196.1																																																																																				0.532	ATP6AP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369562.3	NM_001017971		19	22	1	0	0.00074312	0.006122	0.000811321	19	22				
SRFBP1	153443	broad.mit.edu	37	5	121355030	121355030	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:121355030C>T	ENST00000339397.4	+	5	418	c.346C>T	c.(346-348)Cta>Tta	p.L116L		NM_152546.2	NP_689759.2			serum response factor binding protein 1											central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		GATAGATGTGCTAAAAGGTAT	0.313																																							uc003kst.1		NA																	0					0						c.(346-348)CTA>TTA		serum response factor binding protein 1							78.0	75.0	76.0					5																	121355030		1818	4072	5890	SO:0001819	synonymous_variant	153443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm		g.chr5:121355030C>T	AK058015	CCDS43354.1	5q23.1	2006-12-21				ENSG00000151304			26333	protein-coding gene	gene with protein product	"""BUD22 homolog (S. cerevisiae)"""	610479				15492011	Standard	NM_152546		Approved	FLJ25286, p49, STRAP, BUD22, Rlb1	uc003kst.1	Q8NEF9		ENST00000339397.4:c.346C>T	5.37:g.121355030C>T							p.L116L	NM_152546	NP_689759	Q8NEF9	SRFB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)	5	418	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	116			Potential.			Silent	SNP	ENST00000339397.4	37	c.346C>T	CCDS43354.1																																																																																				0.313	SRFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371200.1	NM_152546		19	40	0	0	0	0.010504	0	19	40				
ADAMTS19	171019	broad.mit.edu	37	5	128797435	128797435	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:128797435C>A	ENST00000274487.4	+	2	859	c.714C>A	c.(712-714)acC>acA	p.T238T	ADAMTS19-AS1_ENST00000502827.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	238						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.T238T(1)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CTTTCAGCACCTGTGGAGGTG	0.622																																							uc003kvb.1		NA																	1	Substitution - coding silent(1)		endometrium(1)	ovary(5)|breast(2)|lung(1)|skin(1)	9						c.(712-714)ACC>ACA		ADAM metallopeptidase with thrombospondin type 1							63.0	67.0	66.0					5																	128797435		2203	4300	6503	SO:0001819	synonymous_variant	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:128797435C>A	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.714C>A	5.37:g.128797435C>A						ADAMTS19_uc003kvc.1_RNA	p.T238T	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	2	714	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	238						Silent	SNP	ENST00000274487.4	37	c.714C>A	CCDS4146.1																																																																																				0.622	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		18	30	1	0	2.39187e-15	0.008871	3.71838e-15	18	30				
SPOCK1	6695	broad.mit.edu	37	5	136314451	136314451	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:136314451C>A	ENST00000394945.1	-	11	1381	c.1212G>T	c.(1210-1212)ctG>ctT	p.L404L	SPOCK1_ENST00000509978.1_5'Flank|SPOCK1_ENST00000282223.7_Silent_p.L404L	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	404					cell adhesion (GO:0007155)|central nervous system neuron differentiation (GO:0021953)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron projection development (GO:0010977)|nervous system development (GO:0007399)|neurogenesis (GO:0022008)|neuron migration (GO:0001764)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|postsynaptic density (GO:0014069)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasm (GO:0016528)	calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCTTTGGTCCCAGCTCCCGTT	0.522																																							uc003lbo.2		NA																	0				ovary(1)	1						c.(1210-1212)CTG>CTT		sparc/osteonectin, cwcv and kazal-like domains							166.0	141.0	149.0					5																	136314451		2203	4300	6503	SO:0001819	synonymous_variant	6695				cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding	g.chr5:136314451C>A	AF231124	CCDS4191.1	5q31.2	2008-02-05	2005-11-04	2005-11-04	ENSG00000152377	ENSG00000152377			11251	protein-coding gene	gene with protein product		602264	"""sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican)"""	TIC1, SPOCK		9545645	Standard	NM_004598		Approved	testican-1	uc003lbp.3	Q08629	OTTHUMG00000129157	ENST00000394945.1:c.1212G>T	5.37:g.136314451C>A						SPOCK1_uc003lbp.2_Silent_p.L404L	p.L404L	NM_004598	NP_004589	Q08629	TICN1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		10	1403	-			404					B3KSW3|Q59EW0|Q8N630|Q9UCL8	Silent	SNP	ENST00000394945.1	37	c.1212G>T	CCDS4191.1																																																																																				0.522	SPOCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251222.1	NM_004598		23	43	1	0	2.89027e-11	0.002299	4.10098e-11	23	43				
PSD2	84249	broad.mit.edu	37	5	139219657	139219657	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:139219657G>T	ENST00000274710.3	+	14	2219	c.2014G>T	c.(2014-2016)Gcg>Tcg	p.A672S		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	672					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGCTGACTGCGGAGCTGGC	0.562																																							uc003leu.1		NA																	0				ovary(1)	1						c.(2014-2016)GCG>TCG		pleckstrin and Sec7 domain containing 2							109.0	99.0	102.0					5																	139219657		2203	4300	6503	SO:0001583	missense	84249				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr5:139219657G>T	AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"""Pleckstrin homology (PH) domain containing"""	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.2014G>T	5.37:g.139219657G>T	ENSP00000274710:p.Ala672Ser						p.A672S	NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		14	2219	+			672			Potential.		D3DQD3|Q8N3J8	Missense_Mutation	SNP	ENST00000274710.3	37	c.2014G>T	CCDS4216.1	.	.	.	.	.	.	.	.	.	.	G	6.484	0.457387	0.12342	.	.	ENSG00000146005	ENST00000274710	T	0.11385	2.78	4.95	4.07	0.47477	.	0.544740	0.19649	N	0.109277	T	0.06508	0.0167	N	0.17312	0.475	0.23624	N	0.997268	B	0.02656	0.0	B	0.04013	0.001	T	0.35992	-0.9766	10	0.07990	T	0.79	.	12.8121	0.57645	0.0:0.0:0.7028:0.2972	.	672	Q9BQI7	PSD2_HUMAN	S	672	ENSP00000274710:A672S	ENSP00000274710:A672S	A	+	1	0	PSD2	139199841	0.260000	0.24053	0.999000	0.59377	0.797000	0.45037	2.178000	0.42519	1.200000	0.43188	0.561000	0.74099	GCG		0.562	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289		15	34	1	0	2.23348e-06	0.004007	2.71339e-06	15	34				
PCDHA3	56145	broad.mit.edu	37	5	140181070	140181070	+	Nonsense_Mutation	SNP	C	C	A	rs529252017		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:140181070C>A	ENST00000522353.2	+	1	288	c.288C>A	c.(286-288)tgC>tgA	p.C96*	PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Nonsense_Mutation_p.C96*|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	96	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAACTGTGCGGGCGGAGCG	0.552																																							uc003lhf.2		NA																	0				ovary(6)|skin(2)	8						c.(286-288)TGC>TGA		protocadherin alpha 3 isoform 1 precursor							128.0	143.0	138.0					5																	140181070		2203	4300	6503	SO:0001587	stop_gained	56145				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140181070C>A	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.288C>A	5.37:g.140181070C>A	ENSP00000429808:p.Cys96*					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Nonsense_Mutation_p.C96*	p.C96*	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	288	+			96			Cadherin 1.|Extracellular (Potential).		O75286	Nonsense_Mutation	SNP	ENST00000522353.2	37	c.288C>A	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	c	13.11	2.138376	0.37728	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	.	.	.	4.51	3.64	0.41730	.	0.000000	0.46145	U	0.000316	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.8124	0.29239	0.0:0.7441:0.0:0.2559	.	.	.	.	X	96	.	ENSP00000429808:C96X	C	+	3	2	PCDHA3	140161254	0.434000	0.25570	1.000000	0.80357	0.448000	0.32197	0.359000	0.20233	1.032000	0.39892	0.467000	0.42956	TGC		0.552	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		59	96	1	0	1.41595e-48	0.00361	2.62861e-48	59	96				
PCDHA3	56145	broad.mit.edu	37	5	140181946	140181946	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:140181946G>T	ENST00000522353.2	+	1	1164	c.1164G>T	c.(1162-1164)tcG>tcT	p.S388S	PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.S388S|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	388	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCACCTGCTCGCTGACGCCCC	0.552																																							uc003lhf.2		NA																	0				ovary(6)|skin(2)	8						c.(1162-1164)TCG>TCT		protocadherin alpha 3 isoform 1 precursor							127.0	116.0	120.0					5																	140181946		2203	4300	6503	SO:0001819	synonymous_variant	56145				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140181946G>T	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1164G>T	5.37:g.140181946G>T						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Silent_p.S388S	p.S388S	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1164	+			388			Cadherin 4.|Extracellular (Potential).		O75286	Silent	SNP	ENST00000522353.2	37	c.1164G>T	CCDS54915.1																																																																																				0.552	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		40	49	1	0	1.22674e-20	0.00874	2.04733e-20	40	49				
PCDHA9	9752	broad.mit.edu	37	5	140228219	140228219	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:140228219C>T	ENST00000532602.1	+	1	1172	c.139C>T	c.(139-141)Cgc>Tgc	p.R47C	PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.R47C|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	47	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCGTGGGCCGCATCGCGCA	0.647																																					Melanoma(55;1800 1972 14909)	Melanoma(55;1800 1972 14909)	uc003lhu.2		NA																	0				large_intestine(2)|ovary(2)|skin(1)	5						c.(139-141)CGC>TGC		protocadherin alpha 9 isoform 1 precursor							53.0	58.0	56.0					5																	140228219		2197	4264	6461	SO:0001583	missense	9752				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140228219C>T	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.139C>T	5.37:g.140228219C>T	ENSP00000436042:p.Arg47Cys					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.R47C	p.R47C	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	863	+			47			Cadherin 1.|Extracellular (Potential).		O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.139C>T	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	C	19.07	3.755097	0.69648	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.28069	1.63;1.63	3.73	2.77	0.32553	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.56891	0.2016	M	0.87971	2.92	0.37429	D	0.91393	D;D	0.89917	1.0;1.0	D;P	0.73380	0.98;0.833	T	0.68903	-0.5286	9	0.87932	D	0	.	11.3333	0.49490	0.2952:0.7048:0.0:0.0	.	47;47	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	C	47	ENSP00000436042:R47C;ENSP00000367362:R47C	ENSP00000367362:R47C	R	+	1	0	PCDHA9	140208403	0.000000	0.05858	1.000000	0.80357	0.883000	0.51084	-0.031000	0.12287	2.051000	0.60960	0.591000	0.81541	CGC		0.647	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		22	45	0	0	0	0.004656	0	22	45				
PCDHA9	9752	broad.mit.edu	37	5	140229017	140229017	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:140229017A>T	ENST00000532602.1	+	1	1970	c.937A>T	c.(937-939)Agt>Tgt	p.S313C	PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.S313C|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	313	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTGAAGAAAGTAGAGCACA	0.453																																					Melanoma(55;1800 1972 14909)	Melanoma(55;1800 1972 14909)	uc003lhu.2		NA																	0				large_intestine(2)|ovary(2)|skin(1)	5						c.(937-939)AGT>TGT		protocadherin alpha 9 isoform 1 precursor							49.0	46.0	47.0					5																	140229017		2195	4257	6452	SO:0001583	missense	9752				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140229017A>T	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.937A>T	5.37:g.140229017A>T	ENSP00000436042:p.Ser313Cys					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.S313C	p.S313C	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1661	+			313			Cadherin 3.|Extracellular (Potential).		O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.937A>T	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	A	11.98	1.799331	0.31869	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.53206	0.63;0.63	3.79	2.58	0.30949	Cadherin (4);Cadherin-like (1);	0.289894	0.17853	U	0.159762	T	0.34600	0.0903	L	0.37750	1.13	0.09310	N	1	B;B	0.15473	0.008;0.013	B;B	0.26517	0.07;0.011	T	0.23691	-1.0181	10	0.38643	T	0.18	.	5.1394	0.14952	0.7384:0.0:0.0998:0.1618	.	313;313	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	C	313	ENSP00000436042:S313C;ENSP00000367362:S313C	ENSP00000367362:S313C	S	+	1	0	PCDHA9	140209201	0.000000	0.05858	0.314000	0.25224	0.342000	0.28953	-0.714000	0.05002	0.569000	0.29329	0.260000	0.18958	AGT		0.453	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		8	11	0	0	0	0.004007	0	8	11				
PCDHA13	56136	broad.mit.edu	37	5	140262681	140262681	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:140262681T>A	ENST00000289272.2	+	1	828	c.828T>A	c.(826-828)gaT>gaA	p.D276E	PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.D276E|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	276	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAATGGAGATATAGTTTACT	0.388																																					Melanoma(147;1739 1852 5500 27947 37288)	Melanoma(147;1739 1852 5500 27947 37288)	uc003lif.2		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(826-828)GAT>GAA		protocadherin alpha 13 isoform 1 precursor							86.0	85.0	85.0					5																	140262681		2203	4300	6503	SO:0001583	missense	56136				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140262681T>A	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.828T>A	5.37:g.140262681T>A	ENSP00000289272:p.Asp276Glu					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.D276E|PCDHA13_uc003lid.2_Missense_Mutation_p.D276E	p.D276E	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	828	+			276			Cadherin 3.|Extracellular (Potential).		O75277	Missense_Mutation	SNP	ENST00000289272.2	37	c.828T>A	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	T	1.141	-0.649495	0.03506	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.50548	0.74;0.74	5.58	-5.04	0.02964	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.16557	0.0398	N	0.04063	-0.285	0.09310	N	1	B;B;B	0.10296	0.002;0.003;0.003	B;B;B	0.20767	0.031;0.007;0.003	T	0.32161	-0.9917	9	0.02654	T	1	.	5.1752	0.15131	0.1065:0.5274:0.2149:0.1513	.	276;276;276	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	E	276	ENSP00000386821:D276E;ENSP00000289272:D276E	ENSP00000289272:D276E	D	+	3	2	PCDHA13	140242865	0.000000	0.05858	0.009000	0.14445	0.993000	0.82548	-2.383000	0.01063	-0.885000	0.03971	0.459000	0.35465	GAT		0.388	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		17	36	0	0	0	0.006122	0	17	36				
PCDHB5	26167	broad.mit.edu	37	5	140517283	140517283	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:140517283G>C	ENST00000231134.5	+	1	2484	c.2267G>C	c.(2266-2268)gGa>gCa	p.G756A		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	756					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTTTGACCGGAGACTCAGGG	0.607																																							uc003liq.2		NA																	0				skin(3)|ovary(2)	5						c.(2266-2268)GGA>GCA		protocadherin beta 5 precursor							110.0	131.0	124.0					5																	140517283		2200	4300	6500	SO:0001583	missense	26167				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140517283G>C	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.2267G>C	5.37:g.140517283G>C	ENSP00000231134:p.Gly756Ala						p.G756A	NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2484	+			756			Cytoplasmic (Potential).		Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	37	c.2267G>C	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	G	11.35	1.614161	0.28712	.	.	ENSG00000113209	ENST00000231134	T	0.45668	0.89	4.38	1.07	0.20283	.	.	.	.	.	T	0.23688	0.0573	L	0.37507	1.11	0.09310	N	1	B	0.27679	0.185	B	0.24394	0.053	T	0.18429	-1.0337	9	0.15066	T	0.55	.	0.616	0.00769	0.2003:0.2332:0.3172:0.2492	.	756	Q9Y5E4	PCDB5_HUMAN	A	756	ENSP00000231134:G756A	ENSP00000231134:G756A	G	+	2	0	PCDHB5	140497467	0.012000	0.17670	0.001000	0.08648	0.006000	0.05464	1.586000	0.36611	0.407000	0.25591	0.505000	0.49811	GGA		0.607	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		48	76	0	0	0	0.00361	0	48	76				
PCDHB16	57717	broad.mit.edu	37	5	140563898	140563898	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:140563898G>T	ENST00000361016.2	+	1	2919	c.1764G>T	c.(1762-1764)aaG>aaT	p.K588N		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	588	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTGACCAAGGTGGTGGCGG	0.692																																							uc003liv.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1762-1764)AAG>AAT		protocadherin beta 16 precursor							20.0	23.0	22.0					5																	140563898		1926	3715	5641	SO:0001583	missense	57717				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140563898G>T	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1764G>T	5.37:g.140563898G>T	ENSP00000354293:p.Lys588Asn					PCDHB9_uc003liw.1_5'Flank	p.K588N	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2919	+			588			Cadherin 6.|Extracellular (Potential).		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	c.1764G>T	CCDS4251.1	.	.	.	.	.	.	.	.	.	.	g	18.89	3.720177	0.68844	.	.	ENSG00000196963	ENST00000361016	T	0.51325	0.71	4.12	4.12	0.48240	Cadherin (3);Cadherin-like (1);	0.000000	0.36034	N	0.002822	T	0.68869	0.3048	M	0.89478	3.035	0.31069	N	0.713195	D	0.89917	1.0	D	0.81914	0.995	T	0.73110	-0.4086	10	0.87932	D	0	.	7.6706	0.28457	0.1945:0.0:0.8055:0.0	.	588	Q9NRJ7	PCDBG_HUMAN	N	588	ENSP00000354293:K588N	ENSP00000354293:K588N	K	+	3	2	PCDHB16	140544082	0.995000	0.38212	1.000000	0.80357	0.996000	0.88848	0.214000	0.17541	1.860000	0.53959	0.479000	0.44913	AAG		0.692	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		14	15	1	0	3.32936e-07	0.006122	4.1603e-07	14	15				
PCDHGA11	56105	broad.mit.edu	37	5	140802988	140802988	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:140802988G>C	ENST00000398587.2	+	1	2227	c.2194G>C	c.(2194-2196)Ggg>Cgg	p.G732R	PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB8P_ENST00000502926.1_RNA|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	732					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTGAAGGCGGGTTGGCAGG	0.587																																							uc003lkq.1		NA																	0					0						c.(2194-2196)GGG>CGG		protocadherin gamma subfamily A, 11 isoform 1							45.0	51.0	49.0					5																	140802988		2201	4299	6500	SO:0001583	missense	56105				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140802988G>C	AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"""Cadherins / Protocadherins : Clustered"""	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.2194G>C	5.37:g.140802988G>C	ENSP00000381589:p.Gly732Arg					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Missense_Mutation_p.G732R|PCDHGA11_uc003lkp.1_Intron|PCDHGB8P_uc011daz.1_5'Flank	p.G732R	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2452	+			732			Cytoplasmic (Potential).		B7ZVY8|Q9Y5D8|Q9Y5D9	Missense_Mutation	SNP	ENST00000398587.2	37	c.2194G>C	CCDS47294.1	.	.	.	.	.	.	.	.	.	.	g	10.36	1.329331	0.24167	.	.	ENSG00000253873	ENST00000398587	T	0.45668	0.89	5.2	-1.46	0.08800	.	.	.	.	.	T	0.29620	0.0739	L	0.46947	1.48	0.09310	N	1	B;B	0.17667	0.023;0.003	B;B	0.20955	0.023;0.032	T	0.29119	-1.0022	9	0.36615	T	0.2	.	3.0023	0.06017	0.1358:0.2766:0.3899:0.1977	.	732;732	Q9Y5H2;Q9Y5H2-2	PCDGB_HUMAN;.	R	732	ENSP00000381589:G732R	ENSP00000381589:G732R	G	+	1	0	PCDHGA11	140783172	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.465000	0.06680	0.020000	0.15106	0.655000	0.94253	GGG		0.587	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376974.1	NM_018914		8	21	0	0	0	0.004482	0	8	21				
AFAP1L1	134265	broad.mit.edu	37	5	148712335	148712335	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:148712335G>C	ENST00000296721.4	+	17	2151	c.2053G>C	c.(2053-2055)Gac>Cac	p.D685H	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.D685H	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	685						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCCGGATTGACCTGGAGCT	0.592																																							uc003lqh.2		NA																	0				breast(1)|pancreas(1)	2						c.(2053-2055)GAC>CAC		actin filament associated protein 1-like 1							37.0	38.0	38.0					5																	148712335		2203	4300	6503	SO:0001583	missense	134265						protein binding	g.chr5:148712335G>C	AK094067	CCDS34274.1, CCDS54932.1	5q33.1	2013-01-10			ENSG00000157510	ENSG00000157510		"""Pleckstrin homology (PH) domain containing"""	26714	protein-coding gene	gene with protein product		614410					Standard	NM_152406		Approved	FLJ36748	uc003lqh.3	Q8TED9	OTTHUMG00000163441	ENST00000296721.4:c.2053G>C	5.37:g.148712335G>C	ENSP00000296721:p.Asp685His					AFAP1L1_uc010jgy.2_Missense_Mutation_p.D685H|AFAP1L1_uc003lqi.1_Missense_Mutation_p.D300H	p.D685H	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		17	2184	+			685			Potential.		Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4	Missense_Mutation	SNP	ENST00000296721.4	37	c.2053G>C	CCDS34274.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.656662	0.88154	.	.	ENSG00000157510	ENST00000296721;ENST00000515000	T;T	0.17528	2.31;2.27	5.67	5.67	0.87782	.	0.058470	0.64402	D	0.000003	T	0.44871	0.1314	M	0.71036	2.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.991;0.997	T	0.33369	-0.9871	10	0.87932	D	0	-36.3945	19.3681	0.94473	0.0:0.0:1.0:0.0	.	685;685	Q8TED9-2;Q8TED9	.;AF1L1_HUMAN	H	685	ENSP00000296721:D685H;ENSP00000424427:D685H	ENSP00000296721:D685H	D	+	1	0	AFAP1L1	148692528	1.000000	0.71417	0.977000	0.42913	0.872000	0.50106	8.445000	0.90326	2.677000	0.91161	0.655000	0.94253	GAC		0.592	AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373443.1	NM_152406		5	21	0	0	0	0.001168	0	5	21				
TCOF1	6949	broad.mit.edu	37	5	149754931	149754931	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:149754931G>A	ENST00000504761.2	+	11	1518	c.1518G>A	c.(1516-1518)gtG>gtA	p.V506V	TCOF1_ENST00000445265.2_Silent_p.V429V|TCOF1_ENST00000451292.1_Silent_p.V506V|TCOF1_ENST00000394269.3_Silent_p.V506V|TCOF1_ENST00000513346.1_Silent_p.V506V|TCOF1_ENST00000439160.2_Silent_p.V506V|TCOF1_ENST00000323668.7_Silent_p.V429V|TCOF1_ENST00000377797.3_Silent_p.V506V			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	506					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCCCCCAGGTGAAACCTGCCT	0.627																																							uc003lry.2		NA																	0				ovary(2)|large_intestine(1)	3	GRCh37	CI002741	TCOF1	I		c.(1516-1518)GTG>GTA		Treacher Collins-Franceschetti syndrome 1							48.0	59.0	56.0					5																	149754931		2199	4295	6494	SO:0001819	synonymous_variant	6949				skeletal system development	nucleolus	protein binding|transporter activity	g.chr5:149754931G>A		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.1518G>A	5.37:g.149754931G>A						TCOF1_uc003lrw.2_Silent_p.V506V|TCOF1_uc011dch.1_Silent_p.V506V|TCOF1_uc003lrz.2_Silent_p.V506V|TCOF1_uc003lrx.2_Silent_p.V429V|TCOF1_uc003lsa.2_Silent_p.V429V|TCOF1_uc011dci.1_5'UTR	p.V506V	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		11	1626	+		all_hematologic(541;0.224)	506					A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Silent	SNP	ENST00000504761.2	37	c.1518G>A	CCDS54936.1																																																																																				0.627	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656		26	31	0	0	0	0.007291	0	26	31				
SLC36A3	285641	broad.mit.edu	37	5	150682911	150682911	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:150682911G>T	ENST00000335230.3	-	1	416	c.5C>A	c.(4-6)tCa>tAa	p.S2*	SLC36A3_ENST00000377713.3_Nonsense_Mutation_p.S2*	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	2						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCAAGCAATGACATCTTCAA	0.517																																							uc003ltw.2		NA																	0				ovary(2)|skin(1)	3						c.(4-6)TCA>TAA		solute carrier family 36, member 3 isoform 2							157.0	133.0	141.0					5																	150682911		2203	4300	6503	SO:0001587	stop_gained	285641					integral to membrane		g.chr5:150682911G>T	AY162215	CCDS4314.1, CCDS47316.1	5q33.1	2013-07-17	2013-07-17		ENSG00000186334	ENSG00000186334		"""Solute carriers"""	19659	protein-coding gene	gene with protein product		608332				12809675	Standard	NM_181774		Approved	PAT3, TRAMD2, tramdorin2	uc003ltw.2	Q495N2	OTTHUMG00000130128	ENST00000335230.3:c.5C>A	5.37:g.150682911G>T	ENSP00000334750:p.Ser2*					GM2A_uc011dcs.1_Intron|SLC36A3_uc003ltx.2_Nonsense_Mutation_p.S2*	p.S2*	NM_181774	NP_861439	Q495N2	S36A3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	424	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	2			Cytoplasmic (Potential).		Q495N3|Q6ZMU7|Q6ZRU4|Q7Z6B4	Nonsense_Mutation	SNP	ENST00000335230.3	37	c.5C>A	CCDS4314.1	.	.	.	.	.	.	.	.	.	.	g	36	5.762516	0.96906	.	.	ENSG00000186334	ENST00000335230;ENST00000377713	.	.	.	2.99	2.12	0.27331	.	2.500130	0.02112	N	0.054905	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-6.3073	6.2517	0.20850	0.1391:0.0:0.8609:0.0	.	.	.	.	X	2	.	ENSP00000334750:S2X	S	-	2	0	SLC36A3	150663104	0.007000	0.16637	0.002000	0.10522	0.009000	0.06853	1.845000	0.39279	0.854000	0.35336	-0.349000	0.07799	TCA		0.517	SLC36A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252436.1	NM_181774		32	33	1	0	2.2871e-25	0.007835	3.98233e-25	32	33				
ADAM19	8728	broad.mit.edu	37	5	156946857	156946857	+	Missense_Mutation	SNP	C	C	A	rs147812090		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:156946857C>A	ENST00000517905.1	-	6	634	c.590G>T	c.(589-591)cGa>cTa	p.R197L	ADAM19_ENST00000257527.4_Missense_Mutation_p.R197L|ADAM19_ENST00000394020.1_Missense_Mutation_p.R199L|ADAM19_ENST00000430702.2_5'UTR			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	197					heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCTGCGAGGTCGCTTCTTGGT	0.537																																							uc003lwz.2		NA																	0				ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(589-591)CGA>CTA		ADAM metallopeptidase domain 19 preproprotein		C	LEU/ARG	0,4406		0,0,2203	83.0	88.0	86.0		590	0.3	0.3	5	dbSNP_134	86	1,8599	1.2+/-3.3	0,1,4299	no	missense	ADAM19	NM_033274.3	102	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	benign	197/919	156946857	1,13005	2203	4300	6503	SO:0001583	missense	8728				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr5:156946857C>A	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.590G>T	5.37:g.156946857C>A	ENSP00000428654:p.Arg197Leu					ADAM19_uc003lww.1_5'UTR|ADAM19_uc011ddr.1_Missense_Mutation_p.R128L	p.R197L	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		6	654	-	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	197					Q9BZL5|Q9UHP2	Missense_Mutation	SNP	ENST00000517905.1	37	c.590G>T		.	.	.	.	.	.	.	.	.	.	C	10.48	1.362507	0.24684	0.0	1.16E-4	ENSG00000135074	ENST00000257527;ENST00000394020;ENST00000517905	T;T;T	0.01787	4.66;4.66;4.64	5.67	0.28	0.15682	.	0.391541	0.21071	N	0.080672	T	0.01592	0.0051	L	0.54323	1.7	0.20926	N	0.999825	P	0.40360	0.714	B	0.31869	0.137	T	0.49504	-0.8933	10	0.11182	T	0.66	.	9.2737	0.37688	0.0:0.5993:0.0:0.4007	.	197	Q9H013-2	.	L	197;199;197	ENSP00000257527:R197L;ENSP00000377588:R199L;ENSP00000428654:R197L	ENSP00000257527:R197L	R	-	2	0	ADAM19	156879435	0.001000	0.12720	0.324000	0.25361	0.992000	0.81027	-0.176000	0.09811	-0.010000	0.14271	0.655000	0.94253	CGA		0.537	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		26	30	1	0	4.74835e-14	0.002096	7.16833e-14	26	30				
TENM2	57451	broad.mit.edu	37	5	167379615	167379615	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:167379615G>T	ENST00000518659.1	+	4	774	c.735G>T	c.(733-735)caG>caT	p.Q245H	TENM2_ENST00000520394.1_Missense_Mutation_p.Q54H|TENM2_ENST00000519204.1_Missense_Mutation_p.Q124H|TENM2_ENST00000520393.1_3'UTR|CTC-353G13.1_ENST00000523050.1_RNA|TENM2_ENST00000403607.2_Missense_Mutation_p.Q78H|TENM2_ENST00000545108.1_Missense_Mutation_p.Q245H	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	245	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										ACCACAGCCAGTCGACTCTGA	0.562																																							uc010jjd.2		NA																	0				ovary(6)|central_nervous_system(4)	10						c.(733-735)CAG>CAT		odz, odd Oz/ten-m homolog 2							74.0	85.0	81.0					5																	167379615		2134	4241	6375	SO:0001583	missense	57451							g.chr5:167379615G>T	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.735G>T	5.37:g.167379615G>T	ENSP00000429430:p.Gln245His					ODZ2_uc003lzq.2_Missense_Mutation_p.Q124H|ODZ2_uc003lzr.3_Missense_Mutation_p.Q54H	p.Q245H	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	4	735	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.735G>T		.	.	.	.	.	.	.	.	.	.	G	16.39	3.109861	0.56398	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	T;T;T;T;T	0.27720	1.65;1.65;1.65;1.65;1.65	5.49	5.49	0.81192	Teneurin intracellular, N-terminal (2);	0.066867	0.64402	D	0.000008	T	0.44008	0.1273	L	0.40543	1.245	0.49915	D	0.999833	D;D;D	0.64830	0.991;0.988;0.994	D;D;D	0.78314	0.986;0.984;0.991	T	0.10405	-1.0631	10	0.28530	T	0.3	.	12.6956	0.57001	0.0756:0.0:0.9244:0.0	.	245;54;124	Q9NT68;F8VNQ3;G3V106	TEN2_HUMAN;.;.	H	245;245;124;54;78	ENSP00000429430:Q245H;ENSP00000438635:Q245H;ENSP00000428964:Q124H;ENSP00000427874:Q54H;ENSP00000384905:Q78H	ENSP00000384905:Q78H	Q	+	3	2	ODZ2	167312193	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	2.263000	0.43293	2.579000	0.87056	0.563000	0.77884	CAG		0.562	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		8	2	1	0	5.18039e-06	0.00308	6.18734e-06	8	2				
PANK3	79646	broad.mit.edu	37	5	167991059	167991059	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:167991059C>A	ENST00000239231.6	-	4	963	c.647G>T	c.(646-648)gGt>gTt	p.G216V	PANK3_ENST00000520504.1_Intron	NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	pantothenate kinase 3	216					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		CAGAAAGGTACCCCCTCCAAG	0.378																																							uc003lzz.1		NA																	0				ovary(1)	1						c.(646-648)GGT>GTT		pantothenate kinase 3							100.0	112.0	108.0					5																	167991059		2203	4298	6501	SO:0001583	missense	79646				coenzyme A biosynthetic process	cytoplasm|nucleus	ATP binding|pantothenate kinase activity	g.chr5:167991059C>A	AK022961	CCDS4368.1	5q35.1	2008-02-05			ENSG00000120137	ENSG00000120137			19365	protein-coding gene	gene with protein product		606161				11479594	Standard	NM_024594		Approved	FLJ12899	uc003lzz.2	Q9H999	OTTHUMG00000130410	ENST00000239231.6:c.647G>T	5.37:g.167991059C>A	ENSP00000239231:p.Gly216Val						p.G216V	NM_024594	NP_078870	Q9H999	PANK3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)	4	947	-	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	216					D3DQL1|Q53FJ9|Q7RTX4	Missense_Mutation	SNP	ENST00000239231.6	37	c.647G>T	CCDS4368.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.368125	0.82463	.	.	ENSG00000120137	ENST00000239231	D	0.99911	-7.93	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	D	0.99930	0.9968	H	0.96142	3.775	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95779	0.8815	10	0.87932	D	0	-11.9381	16.7781	0.85557	0.0:1.0:0.0:0.0	.	216	Q9H999	PANK3_HUMAN	V	216	ENSP00000239231:G216V	ENSP00000239231:G216V	G	-	2	0	PANK3	167923637	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.669000	0.83911	2.257000	0.74773	0.467000	0.42956	GGT		0.378	PANK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252793.2	NM_024594		33	31	1	0	6.50621e-10	0.002836	8.96639e-10	33	31				
SNCB	6620	broad.mit.edu	37	5	176056603	176056603	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:176056603G>T	ENST00000310112.3	-	3	303	c.53C>A	c.(52-54)gCc>gAc	p.A18D	SNCB_ENST00000506696.1_Missense_Mutation_p.A18D|MIR4281_ENST00000580852.1_RNA|SNCB_ENST00000393693.2_Missense_Mutation_p.A18D|EIF4E1B_ENST00000318682.6_5'Flank|SNCB_ENST00000510387.1_Missense_Mutation_p.A18D	NM_001001502.1	NP_001001502.1	Q16143	SYUB_HUMAN	synuclein, beta	18					dopamine metabolic process (GO:0042417)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|inclusion body (GO:0016234)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|terminal bouton (GO:0043195)	calcium ion binding (GO:0005509)|phospholipase inhibitor activity (GO:0004859)			breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	10	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTTCTCCGCGGCTGCCACAAC	0.677																																							uc003mep.2		NA																	0				ovary(1)	1						c.(52-54)GCC>GAC		beta-synuclein							45.0	35.0	39.0					5																	176056603		2203	4300	6503	SO:0001583	missense	6620						calcium ion binding|phospholipase inhibitor activity	g.chr5:176056603G>T	AF053134	CCDS4406.1	5q35	2008-07-18			ENSG00000074317	ENSG00000074317			11140	protein-coding gene	gene with protein product		602569				7558013, 9806846	Standard	NM_003085		Approved		uc003meq.3	Q16143	OTTHUMG00000130661	ENST00000310112.3:c.53C>A	5.37:g.176056603G>T	ENSP00000308057:p.Ala18Asp					SNCB_uc003meq.2_Missense_Mutation_p.A18D|SNCB_uc010jke.1_Missense_Mutation_p.A18D|hsa-mir-4281|MI0015885_5'Flank|EIF4E1B_uc010jkf.1_5'Flank	p.A18D	NM_001001502	NP_001001502	Q16143	SYUB_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	496	-	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	18					Q6IAX7	Missense_Mutation	SNP	ENST00000310112.3	37	c.53C>A	CCDS4406.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.658851	0.88154	.	.	ENSG00000074317	ENST00000310112;ENST00000393693;ENST00000510387;ENST00000506696	D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34	3.37	3.37	0.38596	.	0.000000	0.85682	D	0.000000	D	0.92675	0.7672	M	0.78456	2.415	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.981	D	0.93692	0.7008	10	0.87932	D	0	-4.3422	14.0226	0.64565	0.0:0.0:1.0:0.0	.	18;18	G4Y815;Q16143	.;SYUB_HUMAN	D	18	ENSP00000308057:A18D;ENSP00000377296:A18D;ENSP00000424073:A18D;ENSP00000422223:A18D	ENSP00000308057:A18D	A	-	2	0	SNCB	175989209	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	7.303000	0.78871	1.879000	0.54435	0.462000	0.41574	GCC		0.677	SNCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253152.2	NM_001001502		6	11	1	0	5.18039e-06	0.00308	6.18734e-06	6	11				
ZNF454	285676	broad.mit.edu	37	5	178392082	178392082	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr5:178392082A>T	ENST00000320129.3	+	5	980	c.677A>T	c.(676-678)cAc>cTc	p.H226L	ZNF454_ENST00000519564.1_Missense_Mutation_p.H226L	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	226					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		AAAGCCTTTCACCAGAGTACG	0.373																																							uc003mjo.1		NA																	0				ovary(2)|lung(1)	3						c.(676-678)CAC>CTC		zinc finger protein 454							92.0	95.0	94.0					5																	178392082		2203	4300	6503	SO:0001583	missense	285676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178392082A>T	AK094763	CCDS4441.1	5q35.3	2013-01-08			ENSG00000178187	ENSG00000178187		"""Zinc fingers, C2H2-type"", ""-"""	21200	protein-coding gene	gene with protein product							Standard	NM_182594		Approved	FLJ37444	uc021yjc.1	Q8N9F8	OTTHUMG00000130891	ENST00000320129.3:c.677A>T	5.37:g.178392082A>T	ENSP00000326249:p.His226Leu					ZNF454_uc010jkz.1_Missense_Mutation_p.H226L	p.H226L	NM_182594	NP_872400	Q8N9F8	ZN454_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)	5	948	+	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	226			C2H2-type 2.		Q2M1P2|Q2M323	Missense_Mutation	SNP	ENST00000320129.3	37	c.677A>T	CCDS4441.1	.	.	.	.	.	.	.	.	.	.	A	11.20	1.568636	0.28003	.	.	ENSG00000178187	ENST00000320129;ENST00000519564	T;T	0.07114	3.22;3.22	4.46	3.32	0.38043	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41823	D	0.000813	T	0.03434	0.0099	N	0.03224	-0.385	0.28250	N	0.925319	P	0.37864	0.61	B	0.34824	0.19	T	0.25813	-1.0121	10	0.66056	D	0.02	-11.8388	7.9783	0.30168	0.8998:0.0:0.1002:0.0	.	226	Q8N9F8	ZN454_HUMAN	L	226	ENSP00000326249:H226L;ENSP00000430354:H226L	ENSP00000326249:H226L	H	+	2	0	ZNF454	178324688	0.000000	0.05858	1.000000	0.80357	0.996000	0.88848	-0.006000	0.12833	1.999000	0.58509	0.454000	0.30748	CAC		0.373	ZNF454-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253476.2	XM_209718		22	43	0	0	0	0.004656	0	22	43				
IRF4	3662	broad.mit.edu	37	6	397159	397159	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:397159G>T	ENST00000380956.4	+	5	670	c.544G>T	c.(544-546)Gtc>Ttc	p.V182F	IRF4_ENST00000495137.1_3'UTR	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	182					cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		GAGGGACTACGTCCCGGATCA	0.567			T	IGH@	MM																																		uc003msz.3		NA		Dom	yes		6	6p25-p23	3662	T	interferon regulatory factor 4			L	IGH@		MM 		0				ovary(1)	1						c.(544-546)GTC>TTC		interferon regulatory factor 4							112.0	115.0	114.0					6																	397159		2203	4300	6503	SO:0001583	missense	3662				interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:397159G>T	U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265			6119	protein-coding gene	gene with protein product		601900		MUM1		8921401, 18417578	Standard	NM_002460		Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.544G>T	6.37:g.397159G>T	ENSP00000370343:p.Val182Phe					IRF4_uc010jne.1_Missense_Mutation_p.V182F|IRF4_uc003mta.3_RNA|IRF4_uc003mtb.3_Missense_Mutation_p.V181F|IRF4_uc003mtc.1_Missense_Mutation_p.V12F	p.V182F	NM_002460	NP_002451	Q15306	IRF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)	5	657	+		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	182					Q5VUI7|Q99660	Missense_Mutation	SNP	ENST00000380956.4	37	c.544G>T	CCDS4469.1	.	.	.	.	.	.	.	.	.	.	G	10.85	1.467940	0.26335	.	.	ENSG00000137265	ENST00000380956;ENST00000412334	D	0.97186	-4.28	5.52	4.65	0.58169	.	0.639061	0.15347	N	0.267148	D	0.86163	0.5867	N	0.08118	0	0.27800	N	0.94252	B;B;B;B	0.29341	0.0;0.242;0.1;0.111	B;B;B;B	0.34346	0.001;0.158;0.18;0.064	T	0.76217	-0.3040	10	0.10902	T	0.67	-23.809	14.4781	0.67562	0.0705:0.0:0.9294:0.0	.	182;212;181;182	F2Z3D5;Q99419;Q15306-2;Q15306	.;.;.;IRF4_HUMAN	F	182;211	ENSP00000370343:V182F	ENSP00000370343:V182F	V	+	1	0	IRF4	342159	1.000000	0.71417	0.853000	0.33588	0.226000	0.24999	4.876000	0.63079	1.340000	0.45581	0.555000	0.69702	GTC		0.567	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043638.1			20	111	1	0	7.92952e-12	0.003954	1.14812e-11	20	111				
IRF4	3662	broad.mit.edu	37	6	398857	398857	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:398857T>C	ENST00000380956.4	+	6	793	c.667T>C	c.(667-669)Tgt>Cgt	p.C223R		NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	223					cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		CTTTTATGCTTGTGCCCCACC	0.567			T	IGH@	MM																																		uc003msz.3		NA		Dom	yes		6	6p25-p23	3662	T	interferon regulatory factor 4			L	IGH@		MM 		0				ovary(1)	1						c.(667-669)TGT>CGT		interferon regulatory factor 4							83.0	77.0	79.0					6																	398857		2203	4300	6503	SO:0001583	missense	3662				interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:398857T>C	U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265			6119	protein-coding gene	gene with protein product		601900		MUM1		8921401, 18417578	Standard	NM_002460		Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.667T>C	6.37:g.398857T>C	ENSP00000370343:p.Cys223Arg					IRF4_uc010jne.1_Missense_Mutation_p.C223R|IRF4_uc003mta.3_RNA|IRF4_uc003mtb.3_Missense_Mutation_p.C222R|IRF4_uc003mtc.1_Missense_Mutation_p.C53R	p.C223R	NM_002460	NP_002451	Q15306	IRF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)	6	780	+		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	223					Q5VUI7|Q99660	Missense_Mutation	SNP	ENST00000380956.4	37	c.667T>C	CCDS4469.1	.	.	.	.	.	.	.	.	.	.	T	12.91	2.079564	0.36662	.	.	ENSG00000137265	ENST00000380956;ENST00000412334	D	0.97161	-4.27	5.4	5.4	0.78164	.	0.491622	0.25369	N	0.031174	D	0.94142	0.8121	L	0.40543	1.245	0.80722	D	1	B;P;D;P	0.56035	0.002;0.894;0.974;0.828	B;P;P;B	0.51615	0.008;0.465;0.675;0.197	D	0.93268	0.6649	10	0.11794	T	0.64	-14.3253	15.4475	0.75243	0.0:0.0:0.0:1.0	.	223;253;222;223	F2Z3D5;Q99419;Q15306-2;Q15306	.;.;.;IRF4_HUMAN	R	223;252	ENSP00000370343:C223R	ENSP00000370343:C223R	C	+	1	0	IRF4	343857	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.672000	0.61597	2.048000	0.60808	0.528000	0.53228	TGT		0.567	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043638.1			7	20	0	0	0	0.006214	0	7	20				
F13A1	2162	broad.mit.edu	37	6	6266977	6266977	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:6266977C>A	ENST00000264870.3	-	4	650	c.385G>T	c.(385-387)Gga>Tga	p.G129*		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	129					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CCCCACTTTCCACTTTGTAAC	0.488																																							uc003mwv.2		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1)	6						c.(385-387)GGA>TGA		coagulation factor XIII A1 subunit precursor	L-Glutamine(DB00130)						141.0	137.0	139.0					6																	6266977		2203	4300	6503	SO:0001587	stop_gained	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6266977C>A	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.385G>T	6.37:g.6266977C>A	ENSP00000264870:p.Gly129*					F13A1_uc011dib.1_Nonsense_Mutation_p.G66*	p.G129*	NM_000129	NP_000120	P00488	F13A_HUMAN			4	508	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	129					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Nonsense_Mutation	SNP	ENST00000264870.3	37	c.385G>T	CCDS4496.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.802040	0.90538	.	.	ENSG00000124491	ENST00000264870;ENST00000441301;ENST00000414279;ENST00000431222	.	.	.	5.65	5.65	0.86999	.	0.224264	0.38164	N	0.001784	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	18.7279	0.91722	0.0:1.0:0.0:0.0	.	.	.	.	X	129;66;129;167	.	ENSP00000264870:G129X	G	-	1	0	F13A1	6211976	0.474000	0.25886	0.948000	0.38648	0.997000	0.91878	2.826000	0.48104	2.660000	0.90430	0.655000	0.94253	GGA		0.488	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		12	58	1	0	1.49906e-05	0.00245	1.74694e-05	12	58				
DSP	1832	broad.mit.edu	37	6	7570791	7570791	+	Missense_Mutation	SNP	G	G	T	rs148147581		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:7570791G>T	ENST00000379802.3	+	13	2037	c.1696G>T	c.(1696-1698)Gcc>Tcc	p.A566S	DSP_ENST00000418664.2_Missense_Mutation_p.A566S	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	566	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CATGACAATCGCCAAGGTATG	0.557																																							uc003mxp.1		NA																	0				central_nervous_system(6)|ovary(2)|skin(1)	9	GRCh37	CM068255	DSP	M	rs148147581	c.(1696-1698)GCC>TCC		desmoplakin isoform I							127.0	119.0	122.0					6																	7570791		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7570791G>T	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.1696G>T	6.37:g.7570791G>T	ENSP00000369129:p.Ala566Ser					DSP_uc003mxq.1_Missense_Mutation_p.A566S	p.A566S	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	13	1975	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	566			Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.1696G>T	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.985872	0.74589	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	T;T	0.74421	-0.51;-0.84	5.68	5.68	0.88126	.	0.000000	0.64402	D	0.000019	T	0.42337	0.1198	N	0.10685	0.025	0.42929	D	0.994315	B;B	0.15719	0.006;0.014	B;B	0.16722	0.011;0.016	T	0.45629	-0.9248	10	0.13108	T	0.6	.	19.8003	0.96504	0.0:0.0:1.0:0.0	.	613;566	Q4LE79;P15924	.;DESP_HUMAN	S	566;566;371	ENSP00000369129:A566S;ENSP00000396591:A566S	ENSP00000369129:A566S	A	+	1	0	DSP	7515790	1.000000	0.71417	0.995000	0.50966	0.683000	0.39861	4.941000	0.63540	2.672000	0.90937	0.650000	0.86243	GCC		0.557	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		18	57	1	0	7.41877e-09	0.001882	9.84096e-09	18	57				
TFAP2A	7020	broad.mit.edu	37	6	10398806	10398806	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:10398806G>A	ENST00000482890.1	-	8	1510	c.1158C>T	c.(1156-1158)ttC>ttT	p.F386F	TFAP2A_ENST00000497266.1_5'Flank|TFAP2A_ENST00000379608.3_Silent_p.F380F|TFAP2A_ENST00000319516.4_Silent_p.F382F|TFAP2A_ENST00000379613.3_Silent_p.F388F|TFAP2A_ENST00000379604.2_Silent_p.F386F			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	386	H-S-H (helix-span-helix), dimerization.				anterior neuropore closure (GO:0021506)|basement membrane organization (GO:0071711)|bone morphogenesis (GO:0060349)|cellular response to iron ion (GO:0071281)|cornea development in camera-type eye (GO:0061303)|embryonic body morphogenesis (GO:0010172)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|embryonic pattern specification (GO:0009880)|epidermis morphogenesis (GO:0048730)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|keratinocyte development (GO:0003334)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|oculomotor nerve formation (GO:0021623)|optic cup structural organization (GO:0003409)|optic vesicle morphogenesis (GO:0003404)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell differentiation (GO:0045595)|regulation of neuron differentiation (GO:0045664)|retina layer formation (GO:0010842)|sensory perception of sound (GO:0007605)|sympathetic nervous system development (GO:0048485)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				CGGGGCTGCCGAAGCCGTGGG	0.627																																							uc003myr.2		NA																	0				ovary(1)	1						c.(1156-1158)TTC>TTT		transcription factor AP-2 alpha isoform a							157.0	170.0	166.0					6																	10398806		2203	4300	6503	SO:0001819	synonymous_variant	7020				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr6:10398806G>A	X52611	CCDS4510.1, CCDS34337.1, CCDS43422.1	6p24.3	2013-09-19	2001-11-28		ENSG00000137203	ENSG00000137203			11742	protein-coding gene	gene with protein product		107580	"""transcription factor AP-2 alpha (activating enhancer-binding protein 2 alpha)"""	TFAP2, AP2TF		1916817, 3063603	Standard	NM_001032280		Approved	AP-2	uc003myr.3	P05549	OTTHUMG00000014235	ENST00000482890.1:c.1158C>T	6.37:g.10398806G>A						TFAP2A_uc003myq.2_Silent_p.F380F|TFAP2A_uc003mys.2_RNA|TFAP2A_uc011dih.1_3'UTR|TFAP2A_uc003myt.2_Silent_p.F382F	p.F386F	NM_003220	NP_003211	P05549	AP2A_HUMAN			7	1410	-	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)	386			H-S-H (helix-span-helix), dimerization.		Q13777|Q5TAV5|Q8N1C6	Silent	SNP	ENST00000482890.1	37	c.1158C>T	CCDS4510.1																																																																																				0.627	TFAP2A-007	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353619.2	NM_003220		59	132	0	0	0	0.00361	0	59	132				
ELOVL2	54898	broad.mit.edu	37	6	10984073	10984073	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:10984073C>T	ENST00000354666.3	-	8	915	c.832G>A	c.(832-834)Ggt>Agt	p.G278S		NM_017770.3	NP_060240.3	Q9NXB9	ELOV2_HUMAN	ELOVL fatty acid elongase 2	278					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|linoleic acid metabolic process (GO:0043651)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	fatty acid elongase activity (GO:0009922)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			TTGGAAAAACCATTCTTCACT	0.363																																							uc003mzp.3		NA																	0					0						c.(832-834)GGT>AGT		elongation of very long chain fatty acids-like							200.0	169.0	180.0					6																	10984073		2202	4300	6502	SO:0001583	missense	54898				fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	g.chr6:10984073C>T	AK000341	CCDS4518.1	6p24.1	2011-05-25	2011-05-25		ENSG00000197977	ENSG00000197977			14416	protein-coding gene	gene with protein product		611814	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 2"""			12371743, 16564093	Standard	NM_017770		Approved	Ssc2	uc003mzp.4	Q9NXB9	OTTHUMG00000014252	ENST00000354666.3:c.832G>A	6.37:g.10984073C>T	ENSP00000346693:p.Gly278Ser						p.G278S	NM_017770	NP_060240	Q9NXB9	ELOV2_HUMAN	Epithelial(50;0.176)		8	993	-	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	278					Q6P9E1|Q86W94	Missense_Mutation	SNP	ENST00000354666.3	37	c.832G>A	CCDS4518.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.326495	0.81690	.	.	ENSG00000197977	ENST00000354666	T	0.25414	1.8	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.23054	0.0557	N	0.08118	0	0.54753	D	0.999988	D	0.89917	1.0	D	0.97110	1.0	T	0.34576	-0.9823	10	0.52906	T	0.07	-17.6505	17.2821	0.87131	0.0:1.0:0.0:0.0	.	278	Q9NXB9	ELOV2_HUMAN	S	278	ENSP00000346693:G278S	ENSP00000346693:G278S	G	-	1	0	ELOVL2	11092059	1.000000	0.71417	0.902000	0.35471	0.568000	0.35870	4.361000	0.59461	2.570000	0.86706	0.650000	0.86243	GGT		0.363	ELOVL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039849.1			8	38	0	0	0	0.006214	0	8	38				
GPLD1	2822	broad.mit.edu	37	6	24445964	24445964	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:24445964G>C	ENST00000230036.1	-	19	2026	c.1916C>G	c.(1915-1917)tCt>tGt	p.S639C		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	639					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to calcium ion (GO:0071277)|cellular response to cholesterol (GO:0071397)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|cellular response to pH (GO:0071467)|cellular response to triglyceride (GO:0071401)|chondrocyte differentiation (GO:0002062)|complement receptor mediated signaling pathway (GO:0002430)|GPI anchor release (GO:0006507)|hematopoietic stem cell migration (GO:0035701)|hematopoietic stem cell migration to bone marrow (GO:0097241)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cell proliferation (GO:0008285)|negative regulation of triglyceride catabolic process (GO:0010897)|ossification (GO:0001503)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of secretion (GO:0051047)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cellular response to insulin stimulus (GO:1900076)|response to glucose (GO:0009749)|transepithelial transport (GO:0070633)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|proteinaceous extracellular matrix (GO:0005578)	glycosylphosphatidylinositol phospholipase D activity (GO:0004621)|phospholipase D activity (GO:0004630)|sodium channel regulator activity (GO:0017080)			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						CTTGTCTCCAGAAATGGTAAA	0.473																																							uc003ned.1		NA																	0				ovary(2)|kidney(1)	3						c.(1915-1917)TCT>TGT		glycosylphosphatidylinositol specific							200.0	195.0	197.0					6																	24445964		2203	4300	6503	SO:0001583	missense	2822					extracellular region	glycosylphosphatidylinositol phospholipase D activity	g.chr6:24445964G>C	L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293			4459	protein-coding gene	gene with protein product		602515				11072085	Standard	NM_001503		Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.1916C>G	6.37:g.24445964G>C	ENSP00000230036:p.Ser639Cys						p.S639C	NM_001503	NP_001494	P80108	PHLD_HUMAN			19	2027	-			639			FG-GAP 5.		Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Missense_Mutation	SNP	ENST00000230036.1	37	c.1916C>G	CCDS4553.1	.	.	.	.	.	.	.	.	.	.	G	11.46	1.646430	0.29246	.	.	ENSG00000112293	ENST00000230036	T	0.72167	-0.63	5.49	4.62	0.57501	.	0.456273	0.22688	N	0.056853	T	0.66548	0.2800	M	0.73598	2.24	0.43007	D	0.99453	D	0.58620	0.983	P	0.50490	0.642	T	0.71603	-0.4543	10	0.59425	D	0.04	-9.6402	9.1863	0.37172	0.0736:0.0:0.7823:0.1441	.	639	P80108	PHLD_HUMAN	C	639	ENSP00000230036:S639C	ENSP00000230036:S639C	S	-	2	0	GPLD1	24553943	0.855000	0.29742	0.117000	0.21633	0.910000	0.53928	3.742000	0.55097	1.323000	0.45263	-0.122000	0.15005	TCT		0.473	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043315.1	NM_001503		40	69	0	0	0	0.00361	0	40	69				
ACOT13	55856	broad.mit.edu	37	6	24698141	24698141	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:24698141G>A	ENST00000230048.4	+	2	305	c.112G>A	c.(112-114)Gtg>Atg	p.V38M	ACOT13_ENST00000476436.1_3'UTR|ACOT13_ENST00000537591.1_Missense_Mutation_p.V15M|RP1-30M3.5_ENST00000607014.1_RNA	NM_018473.3	NP_060943.1	Q9NPJ3	ACO13_HUMAN	acyl-CoA thioesterase 13	38					metabolic process (GO:0008152)|protein homotetramerization (GO:0051289)	cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA hydrolase activity (GO:0047617)			large_intestine(1)	1						TCCTGGGAAAGTGATTTGTGA	0.388																																							uc003nek.2		NA																	0					0						c.(112-114)GTG>ATG		acyl-CoA thioesterase 13 isoform 1							93.0	88.0	90.0					6																	24698141		2203	4300	6503	SO:0001583	missense	55856				protein homotetramerization	mitochondrion	acyl-CoA thioesterase activity	g.chr6:24698141G>A	AF220186	CCDS4558.1, CCDS54972.1	6p22.1	2009-11-20	2009-05-05	2009-05-05	ENSG00000112304	ENSG00000112304		"""Acyl CoA thioesterases"""	20999	protein-coding gene	gene with protein product		615652	"""thioesterase superfamily member 2"""	THEM2		16934754, 19405909	Standard	NM_018473		Approved	HT012	uc003nek.3	Q9NPJ3	OTTHUMG00000014359	ENST00000230048.4:c.112G>A	6.37:g.24698141G>A	ENSP00000230048:p.Val38Met					ACOT13_uc010jpv.2_Missense_Mutation_p.V15M	p.V38M	NM_018473	NP_060943	Q9NPJ3	ACO13_HUMAN			2	341	+			38					F5H2L4|O95549	Missense_Mutation	SNP	ENST00000230048.4	37	c.112G>A	CCDS4558.1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.780666	0.70222	.	.	ENSG00000112304	ENST00000537591;ENST00000230048	.	.	.	5.03	2.11	0.27256	Phenylacetic acid degradation-related protein (1);	0.126938	0.52532	D	0.000068	T	0.48750	0.1517	M	0.76328	2.33	0.46028	D	0.998821	D;P	0.53151	0.958;0.945	B;P	0.48552	0.4;0.581	T	0.51756	-0.8665	9	0.51188	T	0.08	-10.1346	10.2939	0.43612	0.0718:0.3213:0.6069:0.0	.	15;38	F5H2L4;Q9NPJ3	.;ACO13_HUMAN	M	15;38	.	ENSP00000230048:V38M	V	+	1	0	ACOT13	24806120	1.000000	0.71417	0.920000	0.36463	0.976000	0.68499	1.667000	0.37471	0.209000	0.20645	0.655000	0.94253	GTG		0.388	ACOT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040010.2	NM_018473		5	31	0	0	0	0.001168	0	5	31				
HIST1H1E	3008	broad.mit.edu	37	6	26156882	26156882	+	Silent	SNP	G	G	A	rs200022646		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:26156882G>A	ENST00000304218.3	+	1	324	c.264G>A	c.(262-264)gtG>gtA	p.V88V	HIST1H2BD_ENST00000377777.4_5'Flank|HIST1H2BD_ENST00000289316.2_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	88	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						AGAGCCTGGTGAGCAAGGGCA	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		15761	0.0		0.001	False		,,,				2504	0.0						uc003ngq.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(262-264)GTG>GTA		histone cluster 1, H1e		G		0,4406		0,0,2203	54.0	58.0	56.0		264	4.4	1.0	6		56	1,8599		0,1,4299	no	coding-synonymous	HIST1H1E	NM_005321.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		88/220	26156882	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3008				nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26156882G>A	M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"""Histones / Replication-dependent"""	4718	protein-coding gene	gene with protein product		142220	"""H1 histone family, member 4"", ""histone 1, H1e"""	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.264G>A	6.37:g.26156882G>A						HIST1H2BD_uc003ngr.2_5'Flank|HIST1H2BD_uc003ngs.2_5'Flank	p.V88V	NM_005321	NP_005312	P10412	H14_HUMAN			1	324	+			88			H15.		Q4VB25	Silent	SNP	ENST00000304218.3	37	c.264G>A	CCDS4586.1																																																																																				0.597	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040084.1	NM_005321		3	41	0	0	0	0.004672	0	3	41				
HIST1H1E	3008	broad.mit.edu	37	6	26157278	26157278	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:26157278G>A	ENST00000304218.3	+	1	720	c.660G>A	c.(658-660)taG>taA	p.*220*	HIST1H2BD_ENST00000377777.4_5'Flank|HIST1H2BD_ENST00000289316.2_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	0					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						AGAAAAAGTAGAAAGTTCCTT	0.527																																							uc003ngq.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(658-660)TAG>TAA		histone cluster 1, H1e							32.0	34.0	33.0					6																	26157278		2201	4298	6499	SO:0001819	synonymous_variant	3008				nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26157278G>A	M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"""Histones / Replication-dependent"""	4718	protein-coding gene	gene with protein product		142220	"""H1 histone family, member 4"", ""histone 1, H1e"""	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.660G>A	6.37:g.26157278G>A						HIST1H2BD_uc003ngr.2_5'Flank|HIST1H2BD_uc003ngs.2_5'Flank	p.*220*	NM_005321	NP_005312	P10412	H14_HUMAN			1	720	+			220					Q4VB25	Silent	SNP	ENST00000304218.3	37	c.660G>A	CCDS4586.1																																																																																				0.527	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040084.1	NM_005321		6	20	0	0	0	0.001984	0	6	20				
HIST1H2BH	8345	broad.mit.edu	37	6	26252107	26252107	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:26252107G>A	ENST00000356350.2	+	1	229	c.229G>A	c.(229-231)Gag>Aag	p.E77K	HIST1H3F_ENST00000446824.2_5'Flank	NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	77					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E77K(1)		NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						CATCGCCGGCGAGGCTTCCCG	0.592																																							uc003nhh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(229-231)GAG>AAG		histone cluster 1, H2bh							104.0	106.0	105.0					6																	26252107		2203	4300	6503	SO:0001583	missense	8345				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26252107G>A	Z80781	CCDS4601.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000197459	ENSG00000275713		"""Histones / Replication-dependent"""	4755	protein-coding gene	gene with protein product		602806	"""H2B histone family, member J"", ""histone 1, H2bh"""	H2BFJ		9119399, 12408966	Standard	NM_003524		Approved	H2B/j	uc003nhh.3	Q93079	OTTHUMG00000014447	ENST00000356350.2:c.229G>A	6.37:g.26252107G>A	ENSP00000348706:p.Glu77Lys					HIST1H3F_uc003nhg.1_5'Flank	p.E77K	NM_003524	NP_003515	Q93079	H2B1H_HUMAN			1	229	+			77					B2R541|Q4VB74	Missense_Mutation	SNP	ENST00000356350.2	37	c.229G>A	CCDS4601.1	.	.	.	.	.	.	.	.	.	.	.	22.5	4.292564	0.80914	.	.	ENSG00000197459	ENST00000356350	T	0.34472	1.36	4.65	4.65	0.58169	Histone-fold (2);Histone core (1);	.	.	.	.	T	0.62319	0.2418	H	0.95780	3.72	0.42567	D	0.993161	D	0.67145	0.996	P	0.58970	0.849	T	0.74639	-0.3598	9	0.54805	T	0.06	.	17.3874	0.87420	0.0:0.0:1.0:0.0	.	77	Q93079	H2B1H_HUMAN	K	77	ENSP00000348706:E77K	ENSP00000348706:E77K	E	+	1	0	HIST1H2BH	26360086	1.000000	0.71417	0.997000	0.53966	0.004000	0.04260	7.667000	0.83888	2.513000	0.84729	0.591000	0.81541	GAG		0.592	HIST1H2BH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040110.1	NM_003524		36	83	0	0	0	0.004878	0	36	83				
ZBED9	114821	broad.mit.edu	37	6	28541251	28541251	+	Missense_Mutation	SNP	T	T	A	rs141088775		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:28541251T>A	ENST00000452236.2	-	4	3032	c.2415A>T	c.(2413-2415)caA>caT	p.Q805H	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						cctgctttggttggcttttca	0.343																																							uc003nlo.2		NA																	0				ovary(1)	1						c.(2413-2415)CAA>CAT		SCAN domain containing 3							99.0	97.0	97.0					6																	28541251		2203	4300	6503	SO:0001583	missense	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28541251T>A																												ENST00000452236.2:c.2415A>T	6.37:g.28541251T>A	ENSP00000395259:p.Gln805His						p.Q805H	NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN			4	3033	-			805						Missense_Mutation	SNP	ENST00000452236.2	37	c.2415A>T	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	T	14.80	2.642621	0.47153	.	.	ENSG00000232040	ENST00000452236	T	0.01767	4.65	2.27	2.27	0.28462	.	0.208527	0.29987	U	0.010681	T	0.00784	0.0026	L	0.49126	1.545	0.23645	N	0.997213	P	0.44734	0.842	B	0.38562	0.276	T	0.51140	-0.8743	10	0.72032	D	0.01	.	6.5198	0.22269	0.0:0.0:0.0:1.0	.	805	Q6R2W3	SCND3_HUMAN	H	805	ENSP00000395259:Q805H	ENSP00000395259:Q805H	Q	-	3	2	SCAND3	28649230	0.976000	0.34144	0.983000	0.44433	0.912000	0.54170	0.250000	0.18235	1.296000	0.44742	0.533000	0.62120	CAA		0.343	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			12	37	0	0	0	0.00245	0	12	37				
OR2H1	26716	broad.mit.edu	37	6	29430378	29430378	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:29430378G>T	ENST00000377136.1	+	4	1297	c.832G>T	c.(832-834)Gtg>Ttg	p.V278L	OR2H1_ENST00000396792.2_Missense_Mutation_p.V278L|OR2H1_ENST00000473369.1_3'UTR|OR2H1_ENST00000442615.1_Missense_Mutation_p.V278L|OR2H1_ENST00000377133.1_Missense_Mutation_p.V278L|OR2H1_ENST00000377132.1_Missense_Mutation_p.V278L			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	278						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(5)|lung(12)	17						CTTCTATGCAGTGGGCACTCC	0.512																																							uc003nmi.2		NA																	0					0						c.(832-834)GTG>TTG		olfactory receptor, family 2, subfamily H,							99.0	102.0	101.0					6																	29430378		1511	2709	4220	SO:0001583	missense	26716				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29430378G>T	AF044491	CCDS4660.1	6p22.1	2014-02-19	2002-02-28		ENSG00000204688	ENSG00000204688		"""GPCR / Class A : Olfactory receptors"""	8252	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily H, member 8"""	OR2H6, OR2H8			Standard	NM_030883		Approved	OR6-2	uc003nmi.3	Q9GZK4	OTTHUMG00000031050	ENST00000377136.1:c.832G>T	6.37:g.29430378G>T	ENSP00000366340:p.Val278Leu					OR2H1_uc003nmj.1_Missense_Mutation_p.V278L|OR2H1_uc010jri.1_Missense_Mutation_p.V200L	p.V278L	NM_030883	NP_112145	Q9GZK4	OR2H1_HUMAN			3	1275	+			278			Helical; Name=7; (Potential).		B0S7T4|O43629|O43661|O43662|Q5SUN6|Q9GZK9	Missense_Mutation	SNP	ENST00000377136.1	37	c.832G>T	CCDS4660.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.801790	0.31869	.	.	ENSG00000204688	ENST00000377136;ENST00000377133;ENST00000442615;ENST00000377132;ENST00000396792	T;T;T;T;T	0.00279	8.33;8.33;8.33;8.33;8.33	3.09	3.09	0.35607	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36815	N	0.002400	T	0.00210	0.0006	L	0.52364	1.645	0.21915	N	0.999472	D	0.89917	1.0	D	0.87578	0.998	T	0.57705	-0.7765	10	0.29301	T	0.29	.	10.0297	0.42092	0.1062:0.0:0.8938:0.0	.	278	Q9GZK4	OR2H1_HUMAN	L	278	ENSP00000366340:V278L;ENSP00000366337:V278L;ENSP00000393254:V278L;ENSP00000366336:V278L;ENSP00000380010:V278L	ENSP00000366336:V278L	V	+	1	0	OR2H1	29538357	0.000000	0.05858	0.711000	0.30485	0.337000	0.28794	-0.320000	0.08028	2.027000	0.59764	0.603000	0.83216	GTG		0.512	OR2H1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194014.3			13	32	1	0	2.31682e-05	0.003163	2.68102e-05	13	32				
MOG	4340	broad.mit.edu	37	6	29627401	29627401	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:29627401C>A	ENST00000376917.3	+	2	623	c.394C>A	c.(394-396)Cat>Aat	p.H132N	MOG_ENST00000396704.3_Missense_Mutation_p.H132N|MOG_ENST00000376902.3_Missense_Mutation_p.H132N|MOG_ENST00000376891.4_Missense_Mutation_p.H132N|MOG_ENST00000416766.2_Missense_Mutation_p.H132N|MOG_ENST00000483013.1_Intron|MOG_ENST00000396701.2_Missense_Mutation_p.H132N|MOG_ENST00000376894.4_Missense_Mutation_p.H132N|MOG_ENST00000494692.1_Missense_Mutation_p.H132N|MOG_ENST00000431798.2_Missense_Mutation_p.H132N|MOG_ENST00000533330.2_Missense_Mutation_p.H132N|MOG_ENST00000490427.1_Intron|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000376888.2_Intron|MOG_ENST00000376898.3_Missense_Mutation_p.H132N	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	132	Ig-like V-type.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						CTTCCGAGATCATTCTTACCA	0.433																																							uc003nnf.2		NA																	0				ovary(1)	1						c.(394-396)CAT>AAT		myelin oligodendrocyte glycoprotein isoform							48.0	49.0	49.0					6																	29627401		1510	2709	4219	SO:0001583	missense	4340				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane		g.chr6:29627401C>A		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099	ENST00000376917.3:c.394C>A	6.37:g.29627401C>A	ENSP00000366115:p.His132Asn					MOG_uc003qzk.1_Missense_Mutation_p.H132N|MOG_uc010kle.1_Intron|MOG_uc010klf.1_Intron|MOG_uc003nmy.1_Missense_Mutation_p.H132N|MOG_uc003nmz.2_Missense_Mutation_p.H132N|MOG_uc011dlt.1_Missense_Mutation_p.H62N|MOG_uc003nna.2_Intron|MOG_uc011dlu.1_Intron|MOG_uc011dlv.1_Intron|MOG_uc003nnd.2_Missense_Mutation_p.H132N|MOG_uc003nne.2_Missense_Mutation_p.H132N|MOG_uc003nng.2_Missense_Mutation_p.H132N|MOG_uc003nnh.2_Missense_Mutation_p.H132N|MOG_uc003nni.2_Missense_Mutation_p.H132N|MOG_uc003nnj.2_Missense_Mutation_p.H132N|MOG_uc003nnk.2_Missense_Mutation_p.H132N	p.H132N	NM_206809	NP_996532	Q16653	MOG_HUMAN			2	572	+			132			Ig-like V-type.|Extracellular (Potential).		A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Missense_Mutation	SNP	ENST00000376917.3	37	c.394C>A	CCDS34370.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.832546	0.50845	.	.	ENSG00000204655	ENST00000376917;ENST00000376902;ENST00000533330;ENST00000376894;ENST00000416766;ENST00000376891;ENST00000376898;ENST00000431798;ENST00000396701;ENST00000494692;ENST00000396704	T;T;T;T;T;T;T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1	5.72	4.84	0.62591	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.203348	0.34986	N	0.003524	T	0.49081	0.1536	N	0.04994	-0.135	0.35707	D	0.816072	B;D;D;D;D;D;D;D;D;D;P	0.76494	0.175;0.999;0.998;0.998;0.997;0.998;0.998;0.999;0.967;0.967;0.952	B;D;D;D;D;D;D;D;P;P;D	0.91635	0.188;0.999;0.996;0.996;0.998;0.996;0.996;0.999;0.857;0.815;0.932	T	0.62973	-0.6740	10	0.40728	T	0.16	.	14.495	0.67680	0.0:0.852:0.148:0.0	.	62;132;132;132;132;132;132;132;132;132;132	B7Z2X8;C9JTE0;F8W9D5;Q16653-2;Q16653-3;Q16653-6;Q16653-7;Q16653;Q16653-5;Q16653-10;Q5SUK5	.;.;.;.;.;.;.;MOG_HUMAN;.;.;.	N	132	ENSP00000366115:H132N;ENSP00000366100:H132N;ENSP00000431709:H132N;ENSP00000366091:H132N;ENSP00000409394:H132N;ENSP00000366088:H132N;ENSP00000366095:H132N;ENSP00000410866:H132N;ENSP00000379929:H132N;ENSP00000417405:H132N;ENSP00000379932:H132N	ENSP00000366088:H132N	H	+	1	0	MOG	29735380	0.101000	0.21875	0.956000	0.39512	0.991000	0.79684	2.038000	0.41184	1.394000	0.46624	0.655000	0.94253	CAT		0.433	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		7	28	1	0	2.0095e-06	0.001984	2.44928e-06	7	28				
GNL1	2794	broad.mit.edu	37	6	30521208	30521208	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:30521208G>A	ENST00000376621.3	-	6	1697	c.727C>T	c.(727-729)Cat>Tat	p.H243Y		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	243	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				cellular response to DNA damage stimulus (GO:0006974)|GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)|signal transduction (GO:0007165)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						TAGTGTTGATGGAAATAATGC	0.552																																							uc003nqh.2		NA																	0				ovary(3)	3						c.(727-729)CAT>TAT		guanine nucleotide binding protein-like 1							152.0	159.0	156.0					6																	30521208		1511	2709	4220	SO:0001583	missense	2794				response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity	g.chr6:30521208G>A		CCDS4680.1	6p21.3	2010-02-17			ENSG00000204590	ENSG00000204590			4413	protein-coding gene	gene with protein product		143024				8180467	Standard	NM_005275		Approved	HSR1	uc003nqh.3	P36915	OTTHUMG00000031137	ENST00000376621.3:c.727C>T	6.37:g.30521208G>A	ENSP00000365806:p.His243Tyr					GNL1_uc011dmi.1_Missense_Mutation_p.H105Y|GNL1_uc011dmj.1_Missense_Mutation_p.H241Y|GNL1_uc011dmk.1_Intron	p.H243Y	NM_005275	NP_005266	P36915	GNL1_HUMAN			6	1755	-			243					B0S838|Q96CT5	Missense_Mutation	SNP	ENST00000376621.3	37	c.727C>T	CCDS4680.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.067266	0.36470	.	.	ENSG00000204590	ENST00000376621;ENST00000426875;ENST00000429126;ENST00000433809	T;T	0.13307	2.6;2.6	5.41	5.41	0.78517	.	0.350346	0.32134	N	0.006536	T	0.03651	0.0104	N	0.17082	0.46	0.26082	N	0.981076	B;B;B	0.28971	0.229;0.015;0.108	B;B;B	0.20384	0.016;0.016;0.029	T	0.23332	-1.0191	10	0.62326	D	0.03	-17.3441	13.5875	0.61940	0.0:0.0:0.8439:0.1561	.	241;105;243	B4DYK6;B4DWZ0;P36915	.;.;GNL1_HUMAN	Y	243;65;105;241	ENSP00000365806:H243Y;ENSP00000404728:H241Y	ENSP00000365806:H243Y	H	-	1	0	GNL1	30629187	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	1.503000	0.35715	2.552000	0.86080	0.655000	0.94253	CAT		0.552	GNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076241.2			33	77	0	0	0	0.004878	0	33	77				
MSH5	4439	broad.mit.edu	37	6	31725979	31725979	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:31725979G>T	ENST00000375755.3	+	13	1338	c.1052G>T	c.(1051-1053)cGc>cTc	p.R351L	MSH5_ENST00000375750.3_Missense_Mutation_p.R351L|MSH5_ENST00000395853.1_Missense_Mutation_p.R25L|MSH5-SAPCD1_ENST00000493662.2_Missense_Mutation_p.R368L|MSH5_ENST00000375703.3_Missense_Mutation_p.R351L|MSH5_ENST00000375742.3_Missense_Mutation_p.R368L|MSH5_ENST00000375740.3_Missense_Mutation_p.R368L|RNU6-850P_ENST00000516934.1_RNA|MSH5_ENST00000534153.4_Missense_Mutation_p.R368L|MSH5_ENST00000431848.2_Missense_Mutation_p.R50L	NM_002441.4	NP_002432.1	O43196	MSH5_HUMAN	mutS homolog 5	351			R -> G (in dbSNP:rs28399976). {ECO:0000269|Ref.5}.		ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|ovary(2)|skin(2)	5						GATGCCTGCCGCTCCCTGCCG	0.562								Direct reversal of damage;Mismatch excision repair (MMR)																															uc003nwv.1		NA																	0				ovary(2)|breast(1)	3						c.(1051-1053)CGC>CTC	Direct_reversal_of_damage|MMR	mutS homolog 5 isoform c							82.0	75.0	77.0					6																	31725979		1508	2708	4216	SO:0001583	missense	4439				chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	g.chr6:31725979G>T	AF070071	CCDS4720.1, CCDS34409.1, CCDS34410.1, CCDS34409.2	6p21.3	2013-09-12	2013-09-12		ENSG00000204410	ENSG00000204410			7328	protein-coding gene	gene with protein product		603382	"""mutS (E. coli) homolog 5"", ""mutS homolog 5 (E. coli)"""			9740671, 9787078, 17977839	Standard	NM_002441		Approved		uc011hbg.2	O43196	OTTHUMG00000167551	ENST00000375755.3:c.1052G>T	6.37:g.31725979G>T	ENSP00000364908:p.Arg351Leu					MSH5_uc003nwt.1_Missense_Mutation_p.R368L|MSH5_uc003nwu.1_Missense_Mutation_p.R351L|MSH5_uc003nww.1_Missense_Mutation_p.R351L|MSH5_uc003nwx.1_Missense_Mutation_p.R368L|MSH5_uc011dof.1_Missense_Mutation_p.R50L|MSH5_uc003nwy.1_Missense_Mutation_p.R25L|MSH5_uc003nwz.3_5'Flank	p.R351L	NM_172166	NP_751898	O43196	MSH5_HUMAN			13	1131	+			351					B0V033|B0V034|O60586|Q5BLU9|Q5SSR1|Q8IW44|Q9BQC7	Missense_Mutation	SNP	ENST00000375755.3	37	c.1052G>T	CCDS4720.1	.	.	.	.	.	.	.	.	.	.	G	34	5.333529	0.95758	.	.	ENSG00000204410	ENST00000375755;ENST00000375742;ENST00000375750;ENST00000534153;ENST00000375703;ENST00000375740;ENST00000450148;ENST00000431848;ENST00000395853	D;D;D;D;D;D;D;D;D	0.90261	-2.64;-2.64;-2.64;-2.64;-2.64;-2.64;-2.64;-2.64;-2.64	5.51	5.51	0.81932	DNA mismatch repair protein MutS, core (3);	0.000000	0.85682	D	0.000000	D	0.93423	0.7902	L	0.60455	1.87	0.47778	D	0.999510	D;B;D;B;P	0.76494	0.992;0.036;0.999;0.386;0.833	D;B;D;B;P	0.74674	0.926;0.112;0.984;0.191;0.652	D	0.93538	0.6875	9	0.66056	D	0.02	-6.4959	17.2658	0.87086	0.0:0.0:1.0:0.0	.	36;368;351;351;368	Q59EC5;O43196-4;O43196;O43196-2;O43196-3	.;.;MSH5_HUMAN;.;.	L	351;368;351;368;351;368;188;50;25	ENSP00000364908:R351L;ENSP00000364894:R368L;ENSP00000364903:R351L;ENSP00000431693:R368L;ENSP00000364855:R351L;ENSP00000364892:R368L;ENSP00000394971:R188L;ENSP00000416784:R50L;ENSP00000379194:R25L	ENSP00000364855:R351L	R	+	2	0	MSH5	31833958	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.627000	0.90974	2.751000	0.94390	0.555000	0.69702	CGC		0.562	MSH5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076243.4			6	51	1	0	8.12818e-05	0.001984	9.21236e-05	6	51				
NOTCH4	4855	broad.mit.edu	37	6	32178620	32178620	+	Missense_Mutation	SNP	C	C	A	rs547209112		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:32178620C>A	ENST00000375023.3	-	18	2912	c.2774G>T	c.(2773-2775)aGc>aTc	p.S925I	NOTCH4_ENST00000465528.1_5'Flank	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	925	EGF-like 23. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CTGGCACAGGCTGCCTTGGAA	0.622																																							uc003obb.2		NA																	0				lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						c.(2773-2775)AGC>ATC		notch4 preproprotein							61.0	61.0	61.0					6																	32178620		1510	2707	4217	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32178620C>A		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.2774G>T	6.37:g.32178620C>A	ENSP00000364163:p.Ser925Ile					NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA	p.S925I	NM_004557	NP_004548	Q99466	NOTC4_HUMAN			18	2913	-			925			EGF-like 23.|Extracellular (Potential).		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.2774G>T	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	C	18.94	3.730084	0.69074	.	.	ENSG00000204301	ENST00000375023	T	0.54866	0.55	4.9	2.09	0.27110	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.241779	0.29403	N	0.012254	T	0.20210	0.0486	L	0.28504	0.86	0.80722	D	1	B	0.20368	0.044	B	0.22386	0.039	T	0.08764	-1.0706	10	0.87932	D	0	.	5.8118	0.18469	0.0:0.6536:0.1608:0.1856	.	925	Q99466	NOTC4_HUMAN	I	925	ENSP00000364163:S925I	ENSP00000364163:S925I	S	-	2	0	NOTCH4	32286598	0.375000	0.25089	0.277000	0.24703	0.878000	0.50629	0.986000	0.29590	0.243000	0.21327	0.563000	0.77884	AGC		0.622	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			19	28	1	0	2.4624e-09	0.008871	3.32569e-09	19	28				
NOTCH4	4855	broad.mit.edu	37	6	32190416	32190416	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:32190416C>A	ENST00000375023.3	-	3	461	c.323G>T	c.(322-324)gGc>gTc	p.G108V		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	108	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						ACCAGTGAAGCCAGGGAGGCA	0.622																																							uc003obb.2		NA																	0				lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						c.(322-324)GGC>GTC		notch4 preproprotein							75.0	78.0	77.0					6																	32190416		2203	4300	6503	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32190416C>A		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.323G>T	6.37:g.32190416C>A	ENSP00000364163:p.Gly108Val					NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA|NOTCH4_uc003obc.2_Missense_Mutation_p.G108V	p.G108V	NM_004557	NP_004548	Q99466	NOTC4_HUMAN			3	462	-			108			Extracellular (Potential).|EGF-like 2.		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.323G>T	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.748349	0.69533	.	.	ENSG00000204301	ENST00000375023	D	0.88277	-2.36	4.14	4.14	0.48551	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.44097	D	0.000486	D	0.95281	0.8469	H	0.94698	3.57	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.978	D	0.96285	0.9209	10	0.87932	D	0	.	13.9356	0.64023	0.0:1.0:0.0:0.0	.	108;108	Q6P3V5;Q99466	.;NOTC4_HUMAN	V	108	ENSP00000364163:G108V	ENSP00000364163:G108V	G	-	2	0	NOTCH4	32298394	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	6.668000	0.74457	2.134000	0.65973	0.561000	0.74099	GGC		0.622	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			12	40	1	0	0.000132079	0.008871	0.000149241	12	40				
BTNL2	56244	broad.mit.edu	37	6	32362549	32362549	+	Missense_Mutation	SNP	C	C	A	rs267600975		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:32362549C>A	ENST00000374993.1	-	6	1331	c.1332G>T	c.(1330-1332)gaG>gaT	p.E444D	BTNL2_ENST00000454136.3_Missense_Mutation_p.E444D|BTNL2_ENST00000414363.1_Missense_Mutation_p.E234D|BTNL2_ENST00000540315.1_Missense_Mutation_p.E234D|HCG23_ENST00000426643.1_RNA|BTNL2_ENST00000374995.3_Missense_Mutation_p.E350D|BTNL2_ENST00000429232.2_3'UTR|BTNL2_ENST00000544175.1_Missense_Mutation_p.E167D	NM_019602.1	NP_062548.1	Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	444						integral component of membrane (GO:0016021)				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						CGATTTTCTCCTCGCCCAAAA	0.458																																							uc003obg.1		NA																	0				central_nervous_system(1)	1						c.(1330-1332)GAG>GAT		butyrophilin-like 2							107.0	109.0	109.0					6																	32362549		2203	4300	6503	SO:0001583	missense	56244					integral to membrane		g.chr6:32362549C>A	AF186588		6p21.3	2014-01-14			ENSG00000204290	ENSG00000204290		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1142	protein-coding gene	gene with protein product		606000				10803852, 15735647	Standard	XM_006726138		Approved	HSBLMHC1, BTL-II, BTN7	uc003obg.1	Q9UIR0	OTTHUMG00000031102	ENST00000374993.1:c.1332G>T	6.37:g.32362549C>A	ENSP00000364132:p.Glu444Asp					BTNL2_uc010jty.1_Missense_Mutation_p.E167D|BTNL2_uc010jtz.1_RNA|BTNL2_uc010jua.1_Missense_Mutation_p.E234D	p.E444D	NM_019602	NP_062548	Q9UIR0	BTNL2_HUMAN			6	1332	-			444			Extracellular (Potential).		A0PJV5|B0UYW9|B0V0N6|O98261|Q08E96|Q58R22|Q58R23|Q5JYF9|Q5MP42|Q5MP43|Q5RIF8|Q5SP08|Q5SP09|Q5SRW3|Q5SRW4|Q5SU36|Q95HK0	Missense_Mutation	SNP	ENST00000374993.1	37	c.1332G>T		.	.	.	.	.	.	.	.	.	.	c	13.99	2.401614	0.42613	.	.	ENSG00000204290	ENST00000468270;ENST00000374995;ENST00000414363;ENST00000374993;ENST00000540315;ENST00000544175	T;T;T;T;T	0.06528	3.29;3.29;3.29;3.29;3.29	4.93	2.95	0.34219	Immunoglobulin-like fold (1);	0.664983	0.13198	N	0.406175	T	0.10981	0.0268	M	0.84948	2.725	0.80722	D	1	P;P	0.47545	0.897;0.88	P;P	0.54544	0.465;0.755	T	0.02464	-1.1155	10	0.62326	D	0.03	.	6.9484	0.24532	0.0:0.7657:0.0:0.2343	.	234;444	Q9UIR0-4;Q9UIR0	.;BTNL2_HUMAN	D	444;350;234;444;234;167	ENSP00000364134:E350D;ENSP00000390512:E234D;ENSP00000364132:E444D;ENSP00000444714:E234D;ENSP00000443364:E167D	ENSP00000364132:E444D	E	-	3	2	BTNL2	32470527	0.522000	0.26266	0.966000	0.40874	0.025000	0.11179	0.076000	0.14712	1.197000	0.43143	0.533000	0.62120	GAG		0.458	BTNL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_019602		7	38	1	0	1.76689e-08	0.006214	2.32305e-08	7	38				
TULP1	7287	broad.mit.edu	37	6	35477640	35477640	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:35477640C>G	ENST00000229771.6	-	6	644	c.565G>C	c.(565-567)Ggg>Cgg	p.G189R	TULP1_ENST00000322263.4_Missense_Mutation_p.G136R	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	189					dendrite development (GO:0016358)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|phagocytosis (GO:0006909)|photoreceptor cell maintenance (GO:0045494)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|retina development in camera-type eye (GO:0060041)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|synapse (GO:0045202)	actin filament binding (GO:0051015)|G-protein coupled photoreceptor activity (GO:0008020)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						GTCCCCTCCCCTGCTGGAGCT	0.567																																					GBM(55;1027 1091 11115 23439)	GBM(55;1027 1091 11115 23439)	uc003okv.3		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(565-567)GGG>CGG		tubby like protein 1							187.0	183.0	184.0					6																	35477640		2203	4300	6503	SO:0001583	missense	7287				dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding	g.chr6:35477640C>G	U82468	CCDS4807.1, CCDS75436.1	6p21.3	2014-01-28			ENSG00000112041	ENSG00000112041			12423	protein-coding gene	gene with protein product		602280		RP14		9096357, 9521870	Standard	NM_003322		Approved	TUBL1, LCA15	uc003okv.4	O00294	OTTHUMG00000014575	ENST00000229771.6:c.565G>C	6.37:g.35477640C>G	ENSP00000229771:p.Gly189Arg					TULP1_uc003okw.3_Missense_Mutation_p.G136R	p.G189R	NM_003322	NP_003313	O00294	TULP1_HUMAN			6	577	-			189					O43536|Q5TGM5|Q8N571	Missense_Mutation	SNP	ENST00000229771.6	37	c.565G>C	CCDS4807.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.164144	0.57476	.	.	ENSG00000112041	ENST00000229771;ENST00000322263;ENST00000545327;ENST00000428978	T;T;T	0.80480	-1.38;-1.35;-0.9	4.16	4.16	0.48862	.	3.221590	0.01025	N	0.004049	D	0.85566	0.5726	L	0.55481	1.735	0.50813	D	0.999898	D;D	0.89917	1.0;0.997	D;P	0.76575	0.988;0.868	T	0.74044	-0.3791	10	0.46703	T	0.11	.	13.2927	0.60280	0.0:1.0:0.0:0.0	.	136;189	O00294-2;O00294	.;TULP1_HUMAN	R	189;136;136;141	ENSP00000229771:G189R;ENSP00000319414:G136R;ENSP00000406765:G141R	ENSP00000229771:G189R	G	-	1	0	TULP1	35585618	0.989000	0.36119	0.994000	0.49952	0.831000	0.47069	4.353000	0.59411	2.151000	0.67156	0.462000	0.41574	GGG		0.567	TULP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040307.2			39	74	0	0	0	0.002852	0	39	74				
MTCH1	23787	broad.mit.edu	37	6	36938181	36938181	+	Splice_Site	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:36938181C>A	ENST00000373627.5	-	10	1147		c.e10+1		MTCH1_ENST00000373616.5_Splice_Site|MTCH1_ENST00000471737.1_Splice_Site|MTCH1_ENST00000538808.1_Splice_Site	NM_001271641.1	NP_001258570.1	Q9NZJ7	MTCH1_HUMAN	mitochondrial carrier 1						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|neuronal ion channel clustering (GO:0045161)|positive regulation of apoptotic process (GO:0043065)|regulation of signal transduction (GO:0009966)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						CGCACACCTACCCGCAGTTGT	0.612																																							uc003ond.1		NA																	0					0						c.e10+1		mitochondrial carrier homolog 1							86.0	78.0	81.0					6																	36938181		2203	4300	6503	SO:0001630	splice_region_variant	23787				activation of caspase activity|neuronal ion channel clustering|positive regulation of apoptosis|regulation of signal transduction|transport	integral to membrane|mitochondrial inner membrane	protein binding	g.chr6:36938181C>A	AF151822	CCDS4828.1, CCDS64411.1	6p21.2	2013-05-22	2011-05-19		ENSG00000137409	ENSG00000137409		"""Solute carriers"""	17586	protein-coding gene	gene with protein product	"""solute carrier family 25, member 49"""	610449	"""mitochondrial carrier homolog 1 (C. elegans)"""			12377771	Standard	NM_014341		Approved	CGI-64, PSAP, SLC25A49	uc003ond.2	Q9NZJ7	OTTHUMG00000014614	ENST00000373627.5:c.1022+1G>T	6.37:g.36938181C>A						MTCH1_uc003onc.1_Splice_Site_p.G324_splice|MTCH1_uc010jwo.1_Splice_Site|MTCH1_uc003one.3_Splice_Site_p.G341_splice|MTCH1_uc011dtt.1_Splice_Site_p.G156_splice	p.G341_splice	NM_014341	NP_055156	Q9NZJ7	MTCH1_HUMAN			10	1022	-								A8KAX5|B2RCE3|Q6PK60|Q6UX45|Q7L465|Q9BW23|Q9NZR6|Q9UJZ5	Splice_Site	SNP	ENST00000373627.5	37	c.1022_splice		.	.	.	.	.	.	.	.	.	.	C	19.67	3.870517	0.72065	.	.	ENSG00000137409	ENST00000373616;ENST00000373627;ENST00000337855;ENST00000373565;ENST00000373550;ENST00000418541;ENST00000460219;ENST00000538808	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3464	0.87310	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MTCH1	37046159	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	6.075000	0.71261	2.528000	0.85240	0.563000	0.77884	.		0.612	MTCH1-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040396.1	NM_014341	Intron	35	83	1	0	9.39024e-22	0.009718	1.59035e-21	35	83				
DNAH8	1769	broad.mit.edu	37	6	38813461	38813461	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:38813461G>T	ENST00000359357.3	+	34	4560	c.4306G>T	c.(4306-4308)Gag>Tag	p.E1436*	DNAH8_ENST00000449981.2_Nonsense_Mutation_p.E1653*|DNAH8_ENST00000441566.1_Nonsense_Mutation_p.E1436*			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1436					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGGAAAAGGAGAGCTCCTGCT	0.408																																							uc003ooe.1		NA																	0				skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(4306-4308)GAG>TAG		dynein, axonemal, heavy polypeptide 8							107.0	105.0	105.0					6																	38813461		2203	4300	6503	SO:0001587	stop_gained	1769							g.chr6:38813461G>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.4306G>T	6.37:g.38813461G>T	ENSP00000352312:p.Glu1436*						p.E1436*	NM_001371	NP_001362					34	4906	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Nonsense_Mutation	SNP	ENST00000359357.3	37	c.4306G>T		.	.	.	.	.	.	.	.	.	.	G	47	13.232192	0.99728	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	19.4343	0.94785	0.0:0.0:1.0:0.0	.	.	.	.	X	1641;1641;1436;1436	.	ENSP00000333363:E1641X	E	+	1	0	DNAH8	38921439	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	9.586000	0.98226	2.600000	0.87896	0.644000	0.83932	GAG		0.408	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		21	46	1	0	2.39556e-15	0.00278	3.71838e-15	21	46				
DNAH8	1769	broad.mit.edu	37	6	38942254	38942254	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:38942254C>A	ENST00000359357.3	+	83	12386	c.12132C>A	c.(12130-12132)ccC>ccA	p.P4044P	DNAH8_ENST00000441566.1_Silent_p.P4008P			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	4044	AAA 6. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GTAATTTACCCATGTGGAAGC	0.443																																							uc003ooe.1		NA																	0				skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(12130-12132)CCC>CCA		dynein, axonemal, heavy polypeptide 8							94.0	86.0	89.0					6																	38942254		2203	4300	6503	SO:0001819	synonymous_variant	1769							g.chr6:38942254C>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.12132C>A	6.37:g.38942254C>A						DNAH8_uc003oog.1_Silent_p.P493P	p.P4044P	NM_001371	NP_001362					83	12732	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37	c.12132C>A																																																																																					0.443	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		21	42	1	0	4.72057e-08	0.003954	6.12521e-08	21	42				
KCNK5	8645	broad.mit.edu	37	6	39162477	39162477	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:39162477G>C	ENST00000359534.3	-	3	696	c.358C>G	c.(358-360)Ctc>Gtc	p.L120V		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	120					excretion (GO:0007588)|potassium ion transport (GO:0006813)	integral component of plasma membrane (GO:0005887)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						ACCCCGAAGAGACCATAGAAA	0.587																																							uc003oon.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(358-360)CTC>GTC		potassium channel, subfamily K, member 5							89.0	94.0	92.0					6																	39162477		2203	4300	6503	SO:0001583	missense	8645				excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity	g.chr6:39162477G>C	AF084830	CCDS4841.1	6p21	2012-03-07			ENSG00000164626	ENSG00000164626		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6280	protein-coding gene	gene with protein product		603493				9812978, 16382106	Standard	XM_005249456		Approved	K2p5.1, TASK-2	uc003oon.3	O95279	OTTHUMG00000014642	ENST00000359534.3:c.358C>G	6.37:g.39162477G>C	ENSP00000352527:p.Leu120Val						p.L120V	NM_003740	NP_003731	O95279	KCNK5_HUMAN			3	722	-			120			Helical; (Potential).		B2RAQ6|B5TJL2|Q5VV76	Missense_Mutation	SNP	ENST00000359534.3	37	c.358C>G	CCDS4841.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.763573	0.69878	.	.	ENSG00000164626	ENST00000359534	T	0.28895	1.59	5.57	5.57	0.84162	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	T	0.45377	0.1339	L	0.56769	1.78	0.80722	D	1	P	0.46142	0.873	D	0.62955	0.909	T	0.20273	-1.0280	10	0.49607	T	0.09	.	19.5469	0.95302	0.0:0.0:1.0:0.0	.	120	O95279	KCNK5_HUMAN	V	120	ENSP00000352527:L120V	ENSP00000352527:L120V	L	-	1	0	KCNK5	39270455	1.000000	0.71417	1.000000	0.80357	0.076000	0.17211	9.869000	0.99810	2.619000	0.88677	0.561000	0.74099	CTC		0.587	KCNK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040449.1	NM_003740		31	85	0	0	0	0.007835	0	31	85				
KCNK16	83795	broad.mit.edu	37	6	39285716	39285716	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:39285716A>T	ENST00000373229.5	-	3	354	c.341T>A	c.(340-342)cTg>cAg	p.L114Q	KCNK16_ENST00000437525.2_Missense_Mutation_p.L114Q|KCNK16_ENST00000425054.2_Missense_Mutation_p.L114Q|KCNK16_ENST00000373227.4_Missense_Mutation_p.L114Q|KCNK16_ENST00000507712.1_Missense_Mutation_p.L49Q	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	114					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						GCTGGGTGCCAGGTTCCCATA	0.567																																							uc003ooq.2		NA																	0				ovary(2)|skin(1)	3						c.(340-342)CTG>CAG		potassium channel, subfamily K, member 16							57.0	50.0	53.0					6																	39285716		2203	4300	6503	SO:0001583	missense	83795					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr6:39285716A>T	AF358909	CCDS4843.1, CCDS47420.1, CCDS47421.1, CCDS47422.1	6p21.2-p21.1	2012-03-07			ENSG00000095981	ENSG00000095981		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	14464	protein-coding gene	gene with protein product		607369				11263999, 16382106	Standard	NM_032115		Approved	K2p16.1, TALK-1, TALK1	uc003ooq.3	Q96T55	OTTHUMG00000014645	ENST00000373229.5:c.341T>A	6.37:g.39285716A>T	ENSP00000362326:p.Leu114Gln					KCNK16_uc003oor.3_Missense_Mutation_p.L114Q|KCNK16_uc010jwy.2_Missense_Mutation_p.L114Q|KCNK16_uc011dtz.1_Missense_Mutation_p.L114Q	p.L114Q	NM_032115	NP_115491	Q96T55	KCNKG_HUMAN			3	355	-			114					B5TJL9|Q2M2N9|Q5TCF3|Q6X6Z3|Q6X6Z4|Q6X6Z5|Q9H591	Missense_Mutation	SNP	ENST00000373229.5	37	c.341T>A	CCDS4843.1	.	.	.	.	.	.	.	.	.	.	A	19.16	3.773967	0.69992	.	.	ENSG00000095981	ENST00000373229;ENST00000425054;ENST00000507712;ENST00000373227;ENST00000437525	T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43	5.65	5.65	0.86999	Ion transport 2 (1);	0.079098	0.51477	D	0.000086	T	0.49150	0.1540	M	0.83384	2.64	0.53688	D	0.999974	D;D;D;D	0.76494	0.999;0.995;0.998;0.999	D;D;D;D	0.79108	0.981;0.974;0.962;0.992	T	0.57277	-0.7839	10	0.66056	D	0.02	.	12.3166	0.54960	0.8591:0.1409:0.0:0.0	.	114;114;114;114	B5TJL9;Q96T55-5;Q96T55-4;Q96T55	.;.;.;KCNKG_HUMAN	Q	114;114;49;114;114	ENSP00000362326:L114Q;ENSP00000391498:L114Q;ENSP00000423842:L49Q;ENSP00000362324:L114Q;ENSP00000415375:L114Q	ENSP00000362324:L114Q	L	-	2	0	KCNK16	39393694	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	5.365000	0.66116	2.154000	0.67381	0.459000	0.35465	CTG		0.567	KCNK16-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040452.2	NM_032115		14	19	0	0	0	0.007413	0	14	19				
KIF6	221458	broad.mit.edu	37	6	39682526	39682526	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:39682526C>A	ENST00000287152.7	-	3	287	c.193G>T	c.(193-195)Gat>Tat	p.D65Y	KIF6_ENST00000373216.3_Missense_Mutation_p.D65Y|KIF6_ENST00000373215.3_Missense_Mutation_p.D65Y|KIF6_ENST00000465719.1_5'UTR|KIF6_ENST00000538893.1_Missense_Mutation_p.D65Y	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	65	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GCATCCTGATCAAAAATTCTT	0.358																																							uc003oot.2		NA																	0				breast(2)|central_nervous_system(1)	3						c.(193-195)GAT>TAT		kinesin family member 6							92.0	90.0	90.0					6																	39682526		2203	4300	6503	SO:0001583	missense	221458				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr6:39682526C>A	AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"""Kinesins"""	21202	protein-coding gene	gene with protein product		613919	"""chromosome 6 open reading frame 102"""	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.193G>T	6.37:g.39682526C>A	ENSP00000287152:p.Asp65Tyr					KIF6_uc011dua.1_Missense_Mutation_p.D65Y|KIF6_uc010jxb.1_Missense_Mutation_p.D65Y|KIF6_uc003oou.2_RNA	p.D65Y	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN			3	288	-			65			Kinesin-motor.		Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	ENST00000287152.7	37	c.193G>T	CCDS4844.1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.837951	0.71373	.	.	ENSG00000164627	ENST00000287152;ENST00000373216;ENST00000373215;ENST00000538893	T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88	5.85	5.85	0.93711	Kinesin, motor domain (4);	.	.	.	.	D	0.85177	0.5637	M	0.83118	2.625	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.83275	0.994;0.947;0.996	D	0.83686	0.0174	9	0.39692	T	0.17	.	17.9307	0.88996	0.0:1.0:0.0:0.0	.	65;65;65	E7EUN7;F6VGH2;Q6ZMV9	.;.;KIF6_HUMAN	Y	65	ENSP00000287152:D65Y;ENSP00000362312:D65Y;ENSP00000362311:D65Y;ENSP00000441435:D65Y	ENSP00000287152:D65Y	D	-	1	0	KIF6	39790504	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.512000	0.53407	2.767000	0.95098	0.655000	0.94253	GAT		0.358	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040455.2	NM_145027		7	27	1	0	3.09899e-07	0.004482	3.88222e-07	7	27				
UNC5CL	222643	broad.mit.edu	37	6	41001699	41001699	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:41001699C>T	ENST00000373164.1	-	2	667	c.607G>A	c.(607-609)Gcc>Acc	p.A203T	UNC5CL_ENST00000244565.3_Missense_Mutation_p.A203T|UNC5CL_ENST00000470102.1_5'Flank			Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	203	Interaction with RELA and NFKB1.|ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|proteolysis (GO:0006508)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	peptidase activity (GO:0008233)			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					CATACCTTGGCATCCAGCAGG	0.637																																							uc003opi.2		NA																	0				ovary(2)	2						c.(607-609)GCC>ACC		unc-5 homolog C-like							34.0	35.0	35.0					6																	41001699		2203	4299	6502	SO:0001583	missense	222643				signal transduction	cytoplasm|integral to membrane		g.chr6:41001699C>T	BC035284	CCDS4847.1	6p21.1	2013-10-15			ENSG00000124602	ENSG00000124602			21203	protein-coding gene	gene with protein product	"""ZU5 and death domain containing"""					14769797	Standard	NM_173561		Approved	MGC34763, ZUD	uc003opi.3	Q8IV45	OTTHUMG00000014665	ENST00000373164.1:c.607G>A	6.37:g.41001699C>T	ENSP00000362258:p.Ala203Thr					UNC5CL_uc010jxe.1_Missense_Mutation_p.A203T	p.A203T	NM_173561	NP_775832	Q8IV45	UN5CL_HUMAN			3	696	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		203			ZU5.|Cytoplasmic (Potential).|Interaction with RELA and NFKB1.		Q5TGU1	Missense_Mutation	SNP	ENST00000373164.1	37	c.607G>A	CCDS4847.1	.	.	.	.	.	.	.	.	.	.	C	3.314	-0.140158	0.06669	.	.	ENSG00000124602	ENST00000244565;ENST00000373164	T;T	0.13901	2.55;2.55	4.78	-1.29	0.09288	ZU5 (1);	1.086100	0.07096	N	0.839668	T	0.02119	0.0066	N	0.19112	0.55	0.09310	N	0.999994	B	0.09022	0.002	B	0.04013	0.001	T	0.47686	-0.9098	10	0.12430	T	0.62	-2.8649	8.8198	0.35018	0.0:0.458:0.0:0.542	.	203	Q8IV45	UN5CL_HUMAN	T	203	ENSP00000244565:A203T;ENSP00000362258:A203T	ENSP00000244565:A203T	A	-	1	0	UNC5CL	41109677	0.000000	0.05858	0.016000	0.15963	0.431000	0.31685	-0.580000	0.05827	-0.214000	0.10078	0.655000	0.94253	GCC		0.637	UNC5CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040491.1	NM_173561		9	19	0	0	0	0.004482	0	9	19				
NFYA	4800	broad.mit.edu	37	6	41060812	41060812	+	Silent	SNP	A	A	G	rs576540807		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:41060812A>G	ENST00000341376.6	+	8	1077	c.876A>G	c.(874-876)ccA>ccG	p.P292P	OARD1_ENST00000480585.1_Intron|NFYA_ENST00000353205.5_Silent_p.P263P	NM_002505.4	NP_002496.1	P23511	NFYA_HUMAN	nuclear transcription factor Y, alpha	292					cellular lipid metabolic process (GO:0044255)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	9	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGAAAATTCCAAAGGAGAGAA	0.413													A|||	1	0.000199681	0.0008	0.0	5008	,	,		20509	0.0		0.0	False		,,,				2504	0.0						uc003opo.2		NA																	0					0						c.(874-876)CCA>CCG		nuclear transcription factor Y, alpha isoform 1							70.0	68.0	69.0					6																	41060812		2203	4300	6503	SO:0001819	synonymous_variant	4800				transcription from RNA polymerase II promoter	CCAAT-binding factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:41060812A>G		CCDS4849.1, CCDS4850.1	6p21.3	2008-11-11			ENSG00000001167	ENSG00000001167			7804	protein-coding gene	gene with protein product		189903				1774067, 9612081	Standard	NM_002505		Approved	HAP2, CBF-B, NF-YA	uc003opo.3	P23511	OTTHUMG00000014669	ENST00000341376.6:c.876A>G	6.37:g.41060812A>G						NFYA_uc003opp.2_Silent_p.P263P|NFYA_uc003opq.2_Silent_p.P263P	p.P292P	NM_002505	NP_002496	P23511	NFYA_HUMAN			8	1054	+	Ovarian(28;0.0418)|Colorectal(47;0.196)		292					Q8IXU0	Silent	SNP	ENST00000341376.6	37	c.876A>G	CCDS4849.1																																																																																				0.413	NFYA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040496.1			5	26	0	0	0	0.001984	0	5	26				
PGC	5225	broad.mit.edu	37	6	41704680	41704680	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:41704680G>T	ENST00000373025.3	-	9	1139	c.1077C>A	c.(1075-1077)ccC>ccA	p.P359P	TFEB_ENST00000358871.2_5'Flank|TFEB_ENST00000373033.1_5'Flank|TFEB_ENST00000230323.4_5'Flank|TFEB_ENST00000420312.1_5'Flank|TFEB_ENST00000403298.4_5'Flank|RP11-298J23.5_ENST00000438967.1_RNA	NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	359					digestion (GO:0007586)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			GGATCCACAGGGGCTGGCCGT	0.567																																							uc003ora.1		NA																	0					0						c.(1075-1077)CCC>CCA		progastricsin (pepsinogen C) precursor							89.0	81.0	84.0					6																	41704680		2203	4300	6503	SO:0001819	synonymous_variant	5225				digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity	g.chr6:41704680G>T		CCDS4859.1, CCDS55000.1	6p21.1	2012-10-02			ENSG00000096088	ENSG00000096088	3.4.23.3		8890	protein-coding gene	gene with protein product		169740					Standard	NM_002630		Approved		uc003ora.2	P20142	OTTHUMG00000014683	ENST00000373025.3:c.1077C>A	6.37:g.41704680G>T						TFEB_uc003oqs.1_5'Flank|TFEB_uc003oqt.1_5'Flank|TFEB_uc003oqu.1_5'Flank|TFEB_uc010jxq.1_5'Flank	p.P359P	NM_002630	NP_002621	P20142	PEPC_HUMAN	Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)		9	1126	-	Ovarian(28;0.0355)|Colorectal(47;0.121)		359					B4DVZ3|Q5T3D7|Q5T3D8	Silent	SNP	ENST00000373025.3	37	c.1077C>A	CCDS4859.1																																																																																				0.567	PGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040521.2			16	18	1	0	2.5808e-16	0.006122	4.09567e-16	16	18				
PGC	5225	broad.mit.edu	37	6	41710072	41710072	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:41710072C>G	ENST00000373025.3	-	5	665	c.603G>C	c.(601-603)caG>caC	p.Q201H	PGC_ENST00000425343.2_Missense_Mutation_p.Q201H	NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	201					digestion (GO:0007586)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			GGGCGCCCTCCTGCACCATGC	0.647																																							uc003ora.1		NA																	0					0						c.(601-603)CAG>CAC		progastricsin (pepsinogen C) precursor							104.0	82.0	90.0					6																	41710072		2203	4300	6503	SO:0001583	missense	5225				digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity	g.chr6:41710072C>G		CCDS4859.1, CCDS55000.1	6p21.1	2012-10-02			ENSG00000096088	ENSG00000096088	3.4.23.3		8890	protein-coding gene	gene with protein product		169740					Standard	NM_002630		Approved		uc003ora.2	P20142	OTTHUMG00000014683	ENST00000373025.3:c.603G>C	6.37:g.41710072C>G	ENSP00000362116:p.Gln201His						p.Q201H	NM_002630	NP_002621	P20142	PEPC_HUMAN	Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)		5	652	-	Ovarian(28;0.0355)|Colorectal(47;0.121)		201					B4DVZ3|Q5T3D7|Q5T3D8	Missense_Mutation	SNP	ENST00000373025.3	37	c.603G>C	CCDS4859.1	.	.	.	.	.	.	.	.	.	.	C	9.681	1.149266	0.21288	.	.	ENSG00000096088	ENST00000373025;ENST00000424183;ENST00000356667;ENST00000425343	T;T;T	0.58358	1.53;0.34;0.36	4.6	0.516	0.17019	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.889113	0.09837	N	0.749387	T	0.47930	0.1472	M	0.85542	2.76	0.09310	N	1	P	0.47034	0.889	P	0.51415	0.669	T	0.40979	-0.9534	10	0.59425	D	0.04	.	5.8783	0.18842	0.2832:0.5659:0.0:0.151	.	201	P20142	PEPC_HUMAN	H	201;122;122;201	ENSP00000362116:Q201H;ENSP00000349094:Q122H;ENSP00000405094:Q201H	ENSP00000349094:Q122H	Q	-	3	2	PGC	41818050	0.000000	0.05858	0.006000	0.13384	0.001000	0.01503	-0.146000	0.10250	0.143000	0.18926	-0.397000	0.06425	CAG		0.647	PGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040521.2			24	71	0	0	0	0.005443	0	24	71				
TRERF1	55809	broad.mit.edu	37	6	42225893	42225893	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:42225893C>G	ENST00000372922.4	-	10	2878	c.2316G>C	c.(2314-2316)gaG>gaC	p.E772D	TRERF1_ENST00000541110.1_Missense_Mutation_p.E792D|TRERF1_ENST00000354325.2_Missense_Mutation_p.E689D|TRERF1_ENST00000372917.4_Missense_Mutation_p.E689D|TRERF1_ENST00000340840.2_Missense_Mutation_p.E689D	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	772	Interacts with CREBBP.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTACAGTCTGCTCTCCAGGCC	0.433																																							uc003osd.2		NA																	0				ovary(3)|pancreas(1)|skin(1)	5						c.(2314-2316)GAG>GAC		transcriptional regulating factor 1							117.0	105.0	110.0					6																	42225893		2203	4300	6503	SO:0001583	missense	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42225893C>G	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.2316G>C	6.37:g.42225893C>G	ENSP00000362013:p.Glu772Asp					TRERF1_uc011duq.1_Missense_Mutation_p.E689D|TRERF1_uc003osb.2_Missense_Mutation_p.E528D|TRERF1_uc003osc.2_Missense_Mutation_p.E528D|TRERF1_uc003ose.2_Missense_Mutation_p.E792D	p.E772D	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		10	2879	-	Colorectal(47;0.196)		772			Interacts with CREBBP.		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Missense_Mutation	SNP	ENST00000372922.4	37	c.2316G>C	CCDS4867.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.146472	0.57044	.	.	ENSG00000124496	ENST00000541110;ENST00000372917;ENST00000372922;ENST00000340840;ENST00000354325	T;T;T;T;T	0.13778	2.65;2.57;2.68;2.57;2.56	6.11	2.99	0.34606	.	0.000000	0.64402	D	0.000012	T	0.14184	0.0343	L	0.51422	1.61	0.45822	D	0.998698	D;D;D;D;B	0.71674	0.998;0.997;0.997;0.998;0.178	D;D;D;D;B	0.77557	0.99;0.978;0.978;0.99;0.159	T	0.02925	-1.1093	10	0.41790	T	0.15	-32.8312	5.458	0.16602	0.0:0.4929:0.0:0.5071	.	689;792;772;528;528	Q96PN7-4;Q05GC8;Q96PN7;Q96PN7-2;Q96PN7-3	.;.;TREF1_HUMAN;.;.	D	792;689;772;689;689	ENSP00000439689:E792D;ENSP00000362008:E689D;ENSP00000362013:E772D;ENSP00000339438:E689D;ENSP00000346285:E689D	ENSP00000339438:E689D	E	-	3	2	TRERF1	42333871	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.641000	0.24720	0.890000	0.36211	0.655000	0.94253	GAG		0.433	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		8	38	0	0	0	0.000978	0	8	38				
UBR2	23304	broad.mit.edu	37	6	42541585	42541586	+	Missense_Mutation	DNP	GG	GG	TT	rs372338102		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:42541585_42541586GG>TT	ENST00000372899.1	+	2	450_451	c.192_193GG>TT	c.(190-195)ctGGca>ctTTca	p.A65S	UBR2_ENST00000372903.2_Missense_Mutation_p.A65S|UBR2_ENST00000372901.1_Missense_Mutation_p.A65S	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	65					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			AAGACATGCTGGCACAGCATGT	0.45																																							uc011dur.1		NA																	0				ovary(3)|pancreas(1)	4						c.(190-195)CTGGCA>CTTTCA		ubiquitin protein ligase E3 component n-recognin																																				SO:0001583	missense	23304				cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	g.chr6:42541585_42541586GG>TT	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	Exception_encountered	6.37:g.42541585_42541586delinsTT	ENSP00000361990:p.Ala65Ser					UBR2_uc003osf.2_Missense_Mutation_p.A65S	p.A65S	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		2	192_193	+	Colorectal(47;0.196)		65					O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	DNP	ENST00000372899.1	37	c.192_193GG>TT	CCDS4870.1																																																																																				0.450	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		20	39	0	0	0	0.004672	0	20	39				
HSP90AB1	3326	broad.mit.edu	37	6	44219848	44219848	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:44219848C>T	ENST00000371554.1	+	10	1789	c.1575C>T	c.(1573-1575)ctC>ctT	p.L525L	SLC35B2_ENST00000495706.1_5'Flank|HSP90AB1_ENST00000353801.3_Silent_p.L525L|HSP90AB1_ENST00000371646.5_Silent_p.L525L|MIR4647_ENST00000583964.1_RNA			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	525					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TGCAGCAGCTCAAGGAATTTG	0.537																																							uc003oxa.1		NA																	0				lung(3)|breast(1)	4						c.(1573-1575)CTC>CTT		heat shock 90kDa protein 1, beta							70.0	66.0	67.0					6																	44219848		2203	4300	6503	SO:0001819	synonymous_variant	3326				axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding	g.chr6:44219848C>T	AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"""Heat shock proteins / HSPC"""	5258	protein-coding gene	gene with protein product		140572	"""heat shock 90kD protein 1, beta"", ""heat shock 90kDa protein 1, beta"""	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.1575C>T	6.37:g.44219848C>T						HSP90AB1_uc011dvr.1_Silent_p.L515L|HSP90AB1_uc003oxb.1_Silent_p.L525L|HSP90AB1_uc011dvs.1_Silent_p.L345L|HSP90AB1_uc003oxc.1_Silent_p.L163L	p.L525L	NM_007355	NP_031381	P08238	HS90B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		10	1659	+	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		525					B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Silent	SNP	ENST00000371554.1	37	c.1575C>T	CCDS4909.1																																																																																				0.537	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1	NM_007355		4	25	0	0	0	0.009096	0	4	25				
TCTE1	202500	broad.mit.edu	37	6	44249877	44249877	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:44249877G>T	ENST00000371505.4	-	4	1388	c.1266C>A	c.(1264-1266)agC>agA	p.S422R	TMEM151B_ENST00000438774.2_Intron|RP11-444E17.6_ENST00000505802.1_Intron|TCTE1_ENST00000371503.3_Intron|TCTE1_ENST00000371504.1_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	422										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACAGGTTGATGCTGGTGAGTG	0.582																																							uc003oxi.2		NA																	0				ovary(2)|skin(2)	4						c.(1264-1266)AGC>AGA		t-complex-associated testis expressed 1							113.0	89.0	97.0					6																	44249877		2203	4300	6503	SO:0001583	missense	202500							g.chr6:44249877G>T	BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.1266C>A	6.37:g.44249877G>T	ENSP00000360560:p.Ser422Arg					SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron	p.S422R	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		4	1422	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		422			LRR 5.		B4DX59|Q8IYS6	Missense_Mutation	SNP	ENST00000371505.4	37	c.1266C>A	CCDS4910.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.568681	0.28003	.	.	ENSG00000146221	ENST00000371505	T	0.54279	0.58	5.28	3.48	0.39840	.	0.168090	0.64402	D	0.000005	T	0.21550	0.0519	L	0.37630	1.12	0.80722	D	1	B	0.32653	0.379	B	0.29077	0.098	T	0.04767	-1.0928	10	0.37606	T	0.19	-40.4607	8.3262	0.32158	0.1386:0.0:0.734:0.1274	.	422	Q5JU00	TCTE1_HUMAN	R	422	ENSP00000360560:S422R	ENSP00000360560:S422R	S	-	3	2	TCTE1	44357855	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	2.541000	0.45735	0.714000	0.32081	0.505000	0.49811	AGC		0.582	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040736.1	NM_182539		18	35	1	0	0.00887093	0.008871	0.00932231	18	35				
SUPT3H	8464	broad.mit.edu	37	6	44988328	44988328	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:44988328C>A	ENST00000371459.1	-	4	393	c.228G>T	c.(226-228)agG>agT	p.R76S	SUPT3H_ENST00000306867.5_Missense_Mutation_p.R76S|SUPT3H_ENST00000371461.2_Missense_Mutation_p.R87S|SUPT3H_ENST00000371460.1_Missense_Mutation_p.R87S	NM_001261823.1|NM_003599.3	NP_001248752.1|NP_003590.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	158					chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	transcription coactivator activity (GO:0003713)			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						GAGTGATTACCCTTGCTCCCC	0.313																																							uc003oxo.2		NA																	0				ovary(2)|breast(1)	3						c.(259-261)AGG>AGT		suppressor of Ty 3 homolog isoform 2							54.0	56.0	55.0					6																	44988328		2203	4298	6501	SO:0001583	missense	8464				histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity	g.chr6:44988328C>A	AF069734	CCDS34465.1, CCDS34466.1, CCDS75464.1	6p21.1-p12.3	2008-05-15	2001-11-28		ENSG00000196284	ENSG00000196284			11466	protein-coding gene	gene with protein product		602947	"""suppressor of Ty (S.cerevisiae) 3 homolog"""			9674425, 9726987	Standard	NM_003599		Approved	SPT3, SPT3L	uc003oxp.4	O75486	OTTHUMG00000014773	ENST00000371459.1:c.228G>T	6.37:g.44988328C>A	ENSP00000360514:p.Arg76Ser					SUPT3H_uc003oxn.1_Missense_Mutation_p.R76S|SUPT3H_uc011dvv.1_5'UTR|SUPT3H_uc003oxp.2_Missense_Mutation_p.R76S|SUPT3H_uc011dvw.1_5'UTR	p.R87S	NM_181356	NP_852001	O75486	SUPT3_HUMAN			6	579	-			158					A6NKG9|B2R9Q5|O76066|Q5TAV9|Q86VN7	Missense_Mutation	SNP	ENST00000371459.1	37	c.261G>T	CCDS34465.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.848554	0.51164	.	.	ENSG00000196284	ENST00000371460;ENST00000371459;ENST00000306867;ENST00000371461	T;T;T;T	0.53857	0.6;0.71;0.71;0.6	6.17	-5.8	0.02347	.	0.042264	0.85682	D	0.000000	T	0.58977	0.2160	M	0.73962	2.25	0.41819	D	0.990015	D;D	0.89917	1.0;0.994	D;D	0.76575	0.988;0.985	T	0.72981	-0.4126	10	0.72032	D	0.01	.	17.2365	0.87000	0.0:0.1433:0.0:0.8567	.	87;158	O75486-3;O75486	.;SUPT3_HUMAN	S	87;76;76;87	ENSP00000360515:R87S;ENSP00000360514:R76S;ENSP00000306718:R76S;ENSP00000360516:R87S	ENSP00000306718:R76S	R	-	3	2	SUPT3H	45096306	0.272000	0.24172	0.661000	0.29709	0.951000	0.60555	-0.670000	0.05256	-1.058000	0.03197	-0.137000	0.14449	AGG		0.313	SUPT3H-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106911.2	NM_181356		18	47	1	0	1.66031e-10	0.003954	2.31168e-10	18	47				
GPR110	266977	broad.mit.edu	37	6	46995498	46995498	+	Splice_Site	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:46995498C>G	ENST00000371253.2	-	3	285		c.e3-1		GPR110_ENST00000371243.2_Splice_Site|GPR110_ENST00000449332.2_Intron	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110						G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						CATCATTTTTCTGTTAAAAAG	0.343																																							uc003oyt.2		NA																	0				ovary(2)|pancreas(1)	3						c.e3-1		G-protein coupled receptor 110 isoform 1							101.0	97.0	98.0					6																	46995498		2202	4298	6500	SO:0001630	splice_region_variant	266977				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46995498C>G	AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"""-"", ""GPCR / Class B : Orphans"""	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.70-1G>C	6.37:g.46995498C>G						GPR110_uc011dwl.1_Intron|GPR110_uc003oyu.1_Splice_Site_p.K24_splice	p.K24_splice	NM_153840	NP_722582	Q5T601	GP110_HUMAN			3	269	-								Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Splice_Site	SNP	ENST00000371253.2	37	c.70_splice	CCDS34471.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.617531	0.46736	.	.	ENSG00000153292	ENST00000371252;ENST00000371253;ENST00000371243	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6374	0.68699	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GPR110	47103457	1.000000	0.71417	0.999000	0.59377	0.629000	0.37895	3.347000	0.52200	2.828000	0.97474	0.655000	0.94253	.		0.343	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2	NM_153840	Intron	7	28	0	0	0	0.00308	0	7	28				
CRISP2	7180	broad.mit.edu	37	6	49660511	49660511	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:49660511C>A	ENST00000339139.4	-	10	943	c.707G>T	c.(706-708)tGc>tTc	p.C236F		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	236	ShKT. {ECO:0000255|PROSITE- ProRule:PRU01005}.				single organismal cell-cell adhesion (GO:0016337)	extracellular space (GO:0005615)				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CTCACATAGGCAAGTAGCCTT	0.398																																							uc003ozq.2		NA																	0				skin(1)	1						c.(706-708)TGC>TTC		cysteine-rich secretory protein 2 precursor							173.0	150.0	158.0					6																	49660511		2203	4300	6503	SO:0001583	missense	7180					extracellular space		g.chr6:49660511C>A	X95239	CCDS4928.1	6p12.3	2009-03-12	2003-09-03	2003-09-05	ENSG00000124490	ENSG00000124490			12024	protein-coding gene	gene with protein product	"""cancer/testis antigen 36"""	187430	"""testis specific protein 1 (probe H4-1 p3-1)"""	GAPDL5, TPX1		2613236, 8665901	Standard	NM_003296		Approved	CRISP-2, CT36	uc003ozo.3	P16562	OTTHUMG00000014822	ENST00000339139.4:c.707G>T	6.37:g.49660511C>A	ENSP00000339155:p.Cys236Phe					CRISP2_uc003ozl.2_Missense_Mutation_p.C236F|CRISP2_uc003ozn.2_Missense_Mutation_p.C236F|CRISP2_uc003ozr.2_Missense_Mutation_p.C236F|CRISP2_uc003ozo.2_Missense_Mutation_p.C236F|CRISP2_uc003ozm.2_Missense_Mutation_p.C271F|CRISP2_uc003ozp.2_Missense_Mutation_p.C236F	p.C236F	NM_001142408	NP_001135880	P16562	CRIS2_HUMAN	KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)		10	963	-	Lung NSC(77;0.0161)		236					A8K8M0|Q53FF2|Q5U8Z9|Q7Z7B2	Missense_Mutation	SNP	ENST00000339139.4	37	c.707G>T	CCDS4928.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.805356	0.70682	.	.	ENSG00000124490	ENST00000339139;ENST00000211238	T	0.23147	1.92	5.14	5.14	0.70334	Cysteine-rich secretory protein (1);	0.000000	0.85682	D	0.000000	T	0.56337	0.1978	M	0.93375	3.41	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.68762	-0.5323	10	0.87932	D	0	.	16.4359	0.83875	0.0:1.0:0.0:0.0	.	271;236	Q7Z7B2;P16562	.;CRIS2_HUMAN	F	236;271	ENSP00000339155:C236F	ENSP00000211238:C271F	C	-	2	0	CRISP2	49768470	0.997000	0.39634	0.912000	0.35992	0.944000	0.59088	4.552000	0.60747	2.540000	0.85666	0.650000	0.86243	TGC		0.398	CRISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040870.2	NM_003296		12	56	1	0	0.00136819	0.001368	0.0014818	12	56				
CRISP3	10321	broad.mit.edu	37	6	49701533	49701533	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:49701533C>T	ENST00000393666.1	-	4	312	c.306G>A	c.(304-306)atG>atA	p.M102I	CRISP3_ENST00000433368.2_Missense_Mutation_p.M125I|CRISP3_ENST00000423399.2_Missense_Mutation_p.M12I|CRISP3_ENST00000371159.4_Missense_Mutation_p.M133I|CRISP3_ENST00000263045.4_Missense_Mutation_p.M115I			P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	102	SCP.				defense response (GO:0006952)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|specific granule (GO:0042581)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			AGGCACTTGACATGTAGAGAT	0.438																																							uc003ozs.2		NA																	0				skin(2)	2						c.(304-306)ATG>ATA		cysteine-rich secretory protein 3 precursor							151.0	140.0	144.0					6																	49701533		2203	4300	6503	SO:0001583	missense	10321				innate immune response	proteinaceous extracellular matrix|specific granule		g.chr6:49701533C>T	X94323	CCDS4929.1, CCDS4929.2, CCDS55019.1	6p12.3	2008-02-05			ENSG00000096006	ENSG00000096006			16904	protein-coding gene	gene with protein product						8665901, 12223513	Standard	NM_006061		Approved	SGP28, CRISP-3, CRS3, dJ442L6.3, Aeg2	uc003ozs.3	P54108	OTTHUMG00000014823	ENST00000393666.1:c.306G>A	6.37:g.49701533C>T	ENSP00000377274:p.Met102Ile						p.M102I	NM_006061	NP_006052	P54108	CRIS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)		5	321	-	Lung NSC(77;0.0161)		102					A8K9S1|B2R8I8|Q15512|Q3MJ82|Q53FA9|Q5JW83|Q9H108	Missense_Mutation	SNP	ENST00000393666.1	37	c.306G>A		.	.	.	.	.	.	.	.	.	.	C	12.16	1.855250	0.32791	.	.	ENSG00000096006	ENST00000263045;ENST00000433368;ENST00000393666;ENST00000423399;ENST00000371159;ENST00000354620	T;T;T;T;T;T	0.41400	3.01;3.01;3.01;1.0;3.01;3.01	5.1	5.1	0.69264	CAP domain (3);	0.678397	0.12868	U	0.432511	T	0.49490	0.1560	M	0.64170	1.965	0.29906	N	0.82395	D	0.89917	1.0	D	0.77004	0.989	T	0.38243	-0.9670	10	0.32370	T	0.25	.	13.9837	0.64321	0.0:1.0:0.0:0.0	.	102	P54108	CRIS3_HUMAN	I	115;125;102;12;133;125	ENSP00000263045:M115I;ENSP00000389026:M125I;ENSP00000377274:M102I;ENSP00000410469:M12I;ENSP00000360201:M133I;ENSP00000346636:M125I	ENSP00000263045:M115I	M	-	3	0	CRISP3	49809492	1.000000	0.71417	0.988000	0.46212	0.024000	0.10985	3.196000	0.51020	2.370000	0.80446	0.585000	0.79938	ATG		0.438	CRISP3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006061		23	60	0	0	0	0.005443	0	23	60				
PGK2	5232	broad.mit.edu	37	6	49754589	49754589	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:49754589C>A	ENST00000304801.3	-	1	464	c.312G>T	c.(310-312)gtG>gtT	p.V104V		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	104					glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					AGGCTTTCTCCACTTCTGCGC	0.527																																							uc003ozu.2		NA																	0				ovary(1)	1						c.(310-312)GTG>GTT		phosphoglycerate kinase 2							119.0	113.0	115.0					6																	49754589		2203	4300	6503	SO:0001819	synonymous_variant	5232				glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	g.chr6:49754589C>A	K03019	CCDS4930.1	6p12.3	2012-09-20		2002-04-19	ENSG00000170950	ENSG00000170950			8898	protein-coding gene	gene with protein product		172270				3839763, 3453121	Standard	NM_138733		Approved	PGKPS, PGK-2	uc003ozu.3	P07205	OTTHUMG00000014824	ENST00000304801.3:c.312G>T	6.37:g.49754589C>A							p.V104V	NM_138733	NP_620061	P07205	PGK2_HUMAN			1	419	-	Lung NSC(77;0.0402)		104					B2R6Y8|Q9H107	Silent	SNP	ENST00000304801.3	37	c.312G>T	CCDS4930.1																																																																																				0.527	PGK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040872.1			20	53	1	0	1.28384e-07	0.001882	1.62751e-07	20	53				
PGK2	5232	broad.mit.edu	37	6	49754737	49754737	+	Missense_Mutation	SNP	G	G	T	rs552704544		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:49754737G>T	ENST00000304801.3	-	1	316	c.164C>A	c.(163-165)gCc>gAc	p.A55D		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	55					glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					TACTGCCTTGGCTCCATTGTC	0.463																																							uc003ozu.2		NA																	0				ovary(1)	1						c.(163-165)GCC>GAC		phosphoglycerate kinase 2							206.0	173.0	185.0					6																	49754737		2203	4300	6503	SO:0001583	missense	5232				glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	g.chr6:49754737G>T	K03019	CCDS4930.1	6p12.3	2012-09-20		2002-04-19	ENSG00000170950	ENSG00000170950			8898	protein-coding gene	gene with protein product		172270				3839763, 3453121	Standard	NM_138733		Approved	PGKPS, PGK-2	uc003ozu.3	P07205	OTTHUMG00000014824	ENST00000304801.3:c.164C>A	6.37:g.49754737G>T	ENSP00000305995:p.Ala55Asp						p.A55D	NM_138733	NP_620061	P07205	PGK2_HUMAN			1	271	-	Lung NSC(77;0.0402)		55					B2R6Y8|Q9H107	Missense_Mutation	SNP	ENST00000304801.3	37	c.164C>A	CCDS4930.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.955570	0.53293	.	.	ENSG00000170950	ENST00000304801	D	0.93859	-3.3	4.09	4.09	0.47781	Phosphoglycerate kinase, N-terminal (1);	0.048660	0.85682	D	0.000000	D	0.98232	0.9415	H	0.99464	4.58	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.98572	1.0646	10	0.87932	D	0	-16.8597	14.5839	0.68310	0.0:0.0:1.0:0.0	.	55	P07205	PGK2_HUMAN	D	55	ENSP00000305995:A55D	ENSP00000305995:A55D	A	-	2	0	PGK2	49862696	1.000000	0.71417	0.951000	0.38953	0.217000	0.24651	7.108000	0.77055	2.562000	0.86427	0.585000	0.79938	GCC		0.463	PGK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040872.1			20	42	1	0	2.70639e-06	0.002299	3.26922e-06	20	42				
CRISP1	167	broad.mit.edu	37	6	49815968	49815968	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:49815968C>A	ENST00000335847.4	-	4	341	c.240G>T	c.(238-240)aaG>aaT	p.K80N	CRISP1_ENST00000505118.1_Missense_Mutation_p.K80N|CRISP1_ENST00000536021.1_Missense_Mutation_p.K80N|CRISP1_ENST00000355791.2_Missense_Mutation_p.K80N|CRISP1_ENST00000507853.1_Missense_Mutation_p.K80N|CRISP1_ENST00000329411.5_Missense_Mutation_p.K80N	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	80	SCP.				binding of sperm to zona pellucida (GO:0007339)|fusion of sperm to egg plasma membrane (GO:0007342)|regulation of acrosome reaction (GO:0060046)	extracellular space (GO:0005615)|nucleus (GO:0005634)	calcium channel regulator activity (GO:0005246)			endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					TATCACAATACTTTGAAAAAA	0.348																																							uc003ozw.2		NA																	0					0						c.(238-240)AAG>AAT		acidic epididymal glycoprotein-like 1 isoform 1							97.0	102.0	100.0					6																	49815968		2203	4300	6503	SO:0001583	missense	167				fusion of sperm to egg plasma membrane	extracellular space		g.chr6:49815968C>A	D38451	CCDS4931.1, CCDS4932.1	6p21.2-p21.1	2008-02-05	2003-09-03	2003-09-05	ENSG00000124812	ENSG00000124812			304	protein-coding gene	gene with protein product		601193	"""acidic epididymal glycoprotein-like 1"""	AEGL1		8838800	Standard	NM_001131		Approved	CRISP-1, ARP, HUMARP, HSCRISP1D, HSCRISP1G	uc003ozw.2	P54107	OTTHUMG00000014827	ENST00000335847.4:c.240G>T	6.37:g.49815968C>A	ENSP00000338276:p.Lys80Asn					CRISP1_uc003ozx.2_Missense_Mutation_p.K80N	p.K80N	NM_001131	NP_001122	P54107	CRIS1_HUMAN			4	319	-	Lung NSC(77;0.0358)		80					B5BU98|O00698|Q13248|Q14082|Q96SF6	Missense_Mutation	SNP	ENST00000335847.4	37	c.240G>T	CCDS4931.1	.	.	.	.	.	.	.	.	.	.	C	0.141	-1.102473	0.01828	.	.	ENSG00000124812	ENST00000507853;ENST00000335847;ENST00000355791;ENST00000329411;ENST00000505118;ENST00000536021	T;T;T;T;T;T	0.08634	3.07;3.07;3.07;3.07;3.07;3.07	4.76	-5.14	0.02875	CAP domain (3);	1.802650	0.02458	N	0.086233	T	0.00845	0.0028	N	0.05467	-0.045	0.09310	N	1	B;B	0.17268	0.015;0.021	B;B	0.18871	0.014;0.023	T	0.43228	-0.9404	9	.	.	.	.	0.5016	0.00581	0.2052:0.2871:0.2067:0.3009	.	80;80	P54107-2;P54107	.;CRIS1_HUMAN	N	80	ENSP00000425020:K80N;ENSP00000338276:K80N;ENSP00000348044:K80N;ENSP00000331317:K80N;ENSP00000427589:K80N;ENSP00000441798:K80N	.	K	-	3	2	CRISP1	49923927	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.966000	0.00670	-1.453000	0.01928	-2.057000	0.00402	AAG		0.348	CRISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040875.2	NM_001131		21	70	1	0	4.87955e-14	0.005443	7.35147e-14	21	70				
PKHD1	5314	broad.mit.edu	37	6	51875134	51875134	+	Silent	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:51875134T>A	ENST00000371117.3	-	35	5999	c.5724A>T	c.(5722-5724)atA>atT	p.I1908I	PKHD1_ENST00000340994.4_Silent_p.I1908I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1908					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AGCGTTTCCGTATCTCAGTAA	0.378																																							uc003pah.1		NA																	0				lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(5722-5724)ATA>ATT		fibrocystin isoform 1							135.0	120.0	125.0					6																	51875134		2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51875134T>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.5724A>T	6.37:g.51875134T>A						PKHD1_uc003pai.2_Silent_p.I1908I	p.I1908I	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			35	6000	-	Lung NSC(77;0.0605)		1908			Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.5724A>T	CCDS4935.1																																																																																				0.378	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		12	28	0	0	0	0.001855	0	12	28				
DST	667	broad.mit.edu	37	6	56510775	56510775	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:56510775C>A	ENST00000361203.3	-	11	1041	c.1034G>T	c.(1033-1035)gGa>gTa	p.G345V	DST_ENST00000312431.6_Missense_Mutation_p.G345V|DST_ENST00000370754.5_Missense_Mutation_p.G523V|DST_ENST00000370788.2_Missense_Mutation_p.G345V|DST_ENST00000244364.6_5'Flank|DST_ENST00000421834.2_Missense_Mutation_p.G345V|DST_ENST00000370769.4_Missense_Mutation_p.G345V			Q03001	DYST_HUMAN	dystonin	345					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTTGATGCGTCCAAATTCTAT	0.358																																							uc003pdf.2		NA																	0				ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(1567-1569)GGA>GTA		dystonin isoform 2							65.0	59.0	61.0					6																	56510775		1815	4082	5897	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56510775C>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.1034G>T	6.37:g.56510775C>A	ENSP00000354508:p.Gly345Val					DST_uc003pcz.3_Missense_Mutation_p.G345V|DST_uc011dxj.1_Missense_Mutation_p.G374V|DST_uc011dxk.1_Missense_Mutation_p.G385V|DST_uc011dxl.1_Missense_Mutation_p.G374V|DST_uc003pde.2_Missense_Mutation_p.G461V	p.G523V	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		14	1596	-	Lung NSC(77;0.103)		345					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.1568G>T		.	.	.	.	.	.	.	.	.	.	C	24.9	4.579882	0.86645	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000421834;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000520645;ENST00000449297	D;D;D;D;D;D;D;D	0.92911	-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13	5.46	5.46	0.80206	.	0.000000	0.50627	D	0.000112	D	0.96266	0.8782	.	.	.	0.37064	D	0.898204	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;1.0;0.999	D	0.96106	0.9073	8	0.87932	D	0	.	19.4909	0.95049	0.0:1.0:0.0:0.0	.	374;345;345;523;461;345	B4DGY0;Q5TBT1;E7ERU2;E9PEB9;Q03001-13;Q03001	.;.;.;.;.;DYST_HUMAN	V	523;345;345;345;345;345;385;523	ENSP00000359790:G523V;ENSP00000359805:G345V;ENSP00000400883:G345V;ENSP00000307959:G345V;ENSP00000359824:G345V;ENSP00000354508:G345V;ENSP00000431030:G385V;ENSP00000393082:G523V	ENSP00000307959:G345V	G	-	2	0	DST	56618734	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.847000	0.97988	0.591000	0.81541	GGA		0.358	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		3	8	1	0	0.004672	0.004672	0.00493414	3	8				
EYS	346007	broad.mit.edu	37	6	66205301	66205301	+	Start_Codon_SNP	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:66205301C>G	ENST00000370621.3	-	4	529	c.3G>C	c.(1-3)atG>atC	p.M1I	EYS_ENST00000370618.3_Start_Codon_SNP_p.M1I|EYS_ENST00000342421.5_Start_Codon_SNP_p.M1I|EYS_ENST00000503581.1_Start_Codon_SNP_p.M1I|EYS_ENST00000393380.2_Start_Codon_SNP_p.M1I|EYS_ENST00000370616.2_Start_Codon_SNP_p.M1I			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	1					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ATTTGTCAGTCATTTTCGGGT	0.368																																							uc011dxu.1		NA																	0				lung(4)|ovary(1)|skin(1)	6						c.(1-3)ATG>ATC		eyes shut homolog isoform 1							54.0	53.0	53.0					6																	66205301		2203	4300	6503	SO:0001582	initiator_codon_variant	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66205301C>G		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.3G>C	6.37:g.66205301C>G	ENSP00000359655:p.Met1Ile					EYS_uc003peq.2_Missense_Mutation_p.M1I|EYS_uc003per.1_Missense_Mutation_p.M1I|EYS_uc010kaj.1_Intron	p.M1I	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN			4	541	-			1					A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37	c.3G>C		.	.	.	.	.	.	.	.	.	.	C	15.46	2.841202	0.51057	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.89875	-1.73;-1.71;-1.71;-2.58;-2.53;-2.53	4.48	4.48	0.54585	.	.	.	.	.	D	0.91895	0.7434	.	.	.	0.22701	N	0.998832	D;D;D	0.71674	0.99;0.998;0.997	P;D;D	0.68943	0.889;0.961;0.915	D	0.85738	0.1335	8	0.87932	D	0	.	14.2655	0.66116	0.0:1.0:0.0:0.0	.	1;1;1	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	I	1	ENSP00000424243:M1I;ENSP00000359655:M1I;ENSP00000359650:M1I;ENSP00000377042:M1I;ENSP00000341818:M1I;ENSP00000359652:M1I	ENSP00000341818:M1I	M	-	3	0	EYS	66262022	1.000000	0.71417	0.905000	0.35620	0.184000	0.23303	2.638000	0.46562	2.180000	0.69256	0.591000	0.81541	ATG		0.368	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050	Missense_Mutation	6	19	0	0	0	0.001984	0	6	19				
BAI3	577	broad.mit.edu	37	6	69640461	69640461	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:69640461G>A	ENST00000370598.1	+	4	1589	c.768G>A	c.(766-768)atG>atA	p.M256I		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	256					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AATTTGGAATGATGGGAGATC	0.363																																							uc003pev.3		NA																	0				lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50						c.(766-768)ATG>ATA		brain-specific angiogenesis inhibitor 3							80.0	78.0	79.0					6																	69640461		2203	4300	6503	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69640461G>A	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.768G>A	6.37:g.69640461G>A	ENSP00000359630:p.Met256Ile					BAI3_uc010kak.2_Missense_Mutation_p.M256I	p.M256I	NM_001704	NP_001695	O60242	BAI3_HUMAN			4	1216	+		all_lung(197;0.212)	256			Extracellular (Potential).		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.768G>A	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.050029	0.36181	.	.	ENSG00000135298	ENST00000370598	T	0.19250	2.16	4.93	4.93	0.64822	.	0.046659	0.85682	D	0.000000	T	0.12902	0.0313	N	0.22421	0.69	0.80722	D	1	P	0.35872	0.525	B	0.42214	0.38	T	0.08472	-1.0720	10	0.51188	T	0.08	.	18.5065	0.90900	0.0:0.0:1.0:0.0	.	256	O60242	BAI3_HUMAN	I	256	ENSP00000359630:M256I	ENSP00000359630:M256I	M	+	3	0	BAI3	69697182	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.361000	0.97122	2.441000	0.82636	0.585000	0.79938	ATG		0.363	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			9	16	0	0	0	0.004482	0	9	16				
COL19A1	1310	broad.mit.edu	37	6	70851915	70851915	+	Splice_Site	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:70851915G>T	ENST00000322773.4	+	22	1621	c.1519G>T	c.(1519-1521)Ggt>Tgt	p.G507C	COL19A1_ENST00000393344.1_Splice_Site_p.G129C	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	507	Collagen-like 4.|Triple-helical region 3 (COL3).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						ACGTGTTTAGGGTGAACCTGG	0.388																																							uc003pfc.1		NA																	0				ovary(2)|breast(2)	4						c.(1519-1521)GGT>TGT		alpha 1 type XIX collagen precursor							56.0	55.0	55.0					6																	70851915		2203	4299	6502	SO:0001630	splice_region_variant	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70851915G>T		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.1519-1G>T	6.37:g.70851915G>T						COL19A1_uc010kam.1_Missense_Mutation_p.G403C	p.G507C	NM_001858	NP_001849	Q14993	COJA1_HUMAN			22	1636	+			507			Triple-helical region 3 (COL3).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.1519G>T	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.974775	0.53720	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	D;D	0.99369	-5.78;-5.78	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.99771	0.9906	H	0.99143	4.445	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97000	0.9728	9	.	.	.	.	17.6549	0.88175	0.0:0.0:1.0:0.0	.	507	Q14993	COJA1_HUMAN	C	507;129	ENSP00000316030:G507C;ENSP00000377013:G129C	.	G	+	1	0	COL19A1	70908636	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	5.899000	0.69846	2.666000	0.90696	0.655000	0.94253	GGT		0.388	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1		Missense_Mutation	10	17	1	0	5.16669e-11	0.000978	7.3031e-11	10	17				
FAM135A	57579	broad.mit.edu	37	6	71246009	71246009	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:71246009A>T	ENST00000418814.2	+	19	4626	c.4012A>T	c.(4012-4014)Aca>Tca	p.T1338S	FAM135A_ENST00000361499.3_Missense_Mutation_p.T1142S|FAM135A_ENST00000457062.2_Missense_Mutation_p.T1125S|FAM135A_ENST00000505868.1_Missense_Mutation_p.T1338S|FAM135A_ENST00000505769.1_Missense_Mutation_p.T918S|FAM135A_ENST00000370479.3_Missense_Mutation_p.T1125S	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1338										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TTCAGTGCTTACAAGGCCAAG	0.343																																							uc003pfj.2		NA																	0				central_nervous_system(1)	1						c.(4012-4014)ACA>TCA		hypothetical protein LOC57579 isoform c							136.0	138.0	137.0					6																	71246009		2202	4299	6501	SO:0001583	missense	57579							g.chr6:71246009A>T	AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"""KIAA1411"""	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.4012A>T	6.37:g.71246009A>T	ENSP00000410768:p.Thr1338Ser					FAM135A_uc003pfi.2_Missense_Mutation_p.T1142S|FAM135A_uc003pfh.2_Missense_Mutation_p.T1125S|FAM135A_uc003pfl.2_Missense_Mutation_p.T1005S|FAM135A_uc003pfn.2_Missense_Mutation_p.T544S|FAM135A_uc003pfo.1_Missense_Mutation_p.T709S|FAM135A_uc010kan.1_Missense_Mutation_p.T117S	p.T1338S	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN			17	4145	+			1338					A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Missense_Mutation	SNP	ENST00000418814.2	37	c.4012A>T	CCDS55028.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.422350	0.83559	.	.	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000505769;ENST00000457062;ENST00000361499;ENST00000505868	T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98	5.51	5.51	0.81932	Domain of unknown function DUF676, lipase-like (1);	0.049121	0.85682	D	0.000000	T	0.35941	0.0949	L	0.31065	0.9	0.45554	D	0.998507	B;P;P;B;P	0.50617	0.082;0.708;0.937;0.34;0.923	B;B;P;B;P	0.59948	0.065;0.227;0.866;0.421;0.79	T	0.30765	-0.9967	10	0.51188	T	0.08	.	10.8503	0.46767	0.8592:0.0:0.0:0.1408	.	918;1338;1338;1142;1125	D6RCC7;Q9P2D6-4;Q9P2D6;Q9P2D6-2;Q9P2D6-3	.;.;F135A_HUMAN;.;.	S	1338;1125;918;1125;1142;1338	ENSP00000410768:T1338S;ENSP00000359510:T1125S;ENSP00000423785:T918S;ENSP00000409201:T1125S;ENSP00000354913:T1142S;ENSP00000423307:T1338S	ENSP00000354913:T1142S	T	+	1	0	FAM135A	71302730	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.115000	0.71566	2.081000	0.62600	0.477000	0.44152	ACA		0.343	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819		5	55	0	0	0	0.001168	0	5	55				
SLC17A5	26503	broad.mit.edu	37	6	74331599	74331599	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:74331599G>T	ENST00000355773.5	-	7	1174	c.906C>A	c.(904-906)aaC>aaA	p.N302K	SLC17A5_ENST00000393019.3_3'UTR	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	302					amino acid transport (GO:0006865)|anion transport (GO:0006820)|ion transport (GO:0006811)|proton transport (GO:0015992)|sialic acid transport (GO:0015739)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	sialic acid transmembrane transporter activity (GO:0015136)|sugar:proton symporter activity (GO:0005351)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AAAAAGTCCAGTTGTAAGAAA	0.373																																							uc003phn.3		NA																	0				skin(5)|central_nervous_system(1)	6						c.(904-906)AAC>AAA		sialin							64.0	63.0	63.0					6																	74331599		2203	4300	6503	SO:0001583	missense	26503				anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity	g.chr6:74331599G>T	AJ387747	CCDS4981.1	6q13	2013-07-18	2013-07-18		ENSG00000119899	ENSG00000119899		"""Solute carriers"""	10933	protein-coding gene	gene with protein product		604322	"""sialic acid storage disease"", ""solute carrier family 17 (anion/sugar transporter), member 5"""	SIASD		10581036, 8198127	Standard	NM_012434		Approved	AST, SD, ISSD, NSD, SIALIN, SLD	uc003phn.4	Q9NRA2	OTTHUMG00000015039	ENST00000355773.5:c.906C>A	6.37:g.74331599G>T	ENSP00000348019:p.Asn302Lys					SLC17A5_uc010kax.2_Intron|SLC17A5_uc010kay.2_RNA|SLC17A5_uc011dyo.1_Missense_Mutation_p.N171K	p.N302K	NM_012434	NP_036566	Q9NRA2	S17A5_HUMAN			7	1034	-			302					Q5SZ76|Q8NBR5|Q9UGH0	Missense_Mutation	SNP	ENST00000355773.5	37	c.906C>A	CCDS4981.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.679920	0.68042	.	.	ENSG00000119899	ENST00000355773	T	0.58797	0.31	5.91	5.05	0.67936	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.043330	0.85682	D	0.000000	T	0.76751	0.4031	M	0.93241	3.395	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.988;0.997	T	0.83125	-0.0116	10	0.62326	D	0.03	.	12.8106	0.57637	0.135:0.0:0.865:0.0	.	364;302	E1P537;Q9NRA2	.;S17A5_HUMAN	K	302	ENSP00000348019:N302K	ENSP00000348019:N302K	N	-	3	2	SLC17A5	74388320	1.000000	0.71417	1.000000	0.80357	0.673000	0.39480	0.895000	0.28363	1.517000	0.48917	0.555000	0.69702	AAC		0.373	SLC17A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041228.1			9	33	1	0	6.40141e-05	0.000978	7.28859e-05	9	33				
ELOVL4	6785	broad.mit.edu	37	6	80634726	80634726	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:80634726C>A	ENST00000369816.4	-	3	612	c.312G>T	c.(310-312)gcG>gcT	p.A104A		NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN	ELOVL fatty acid elongase 4	104					cellular lipid metabolic process (GO:0044255)|detection of visible light (GO:0009584)|fatty acid biosynthetic process (GO:0006633)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)	G-protein coupled photoreceptor activity (GO:0008020)|transferase activity (GO:0016740)	p.A104A(1)		central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	AGCTATATCCCGCATTATATG	0.279																																							uc003pja.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(310-312)GCG>GCT		elongation of very long chain fatty acids-like	Alpha-Linolenic Acid(DB00132)						71.0	74.0	73.0					6																	80634726		2202	4296	6498	SO:0001819	synonymous_variant	6785				fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups	g.chr6:80634726C>A	AF277094	CCDS4992.1	6q14	2013-01-08	2011-05-25		ENSG00000118402	ENSG00000118402			14415	protein-coding gene	gene with protein product	"""cancer/testis antigen 118"""	605512	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4"""	STGD2, STGD3		11138005	Standard	NM_022726		Approved	CT118	uc003pja.4	Q9GZR5	OTTHUMG00000015087	ENST00000369816.4:c.312G>T	6.37:g.80634726C>A						ELOVL4_uc011dyt.1_Intron	p.A104A	NM_022726	NP_073563	Q9GZR5	ELOV4_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0168)	3	631	-		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)	104					B2R6B5|Q5TCS2|Q86YJ1|Q9H139	Silent	SNP	ENST00000369816.4	37	c.312G>T	CCDS4992.1																																																																																				0.279	ELOVL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041315.1			21	37	1	0	7.92952e-12	0.003954	1.14812e-11	21	37				
HTR1E	3354	broad.mit.edu	37	6	87725103	87725103	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:87725103G>A	ENST00000305344.5	+	2	754	c.51G>A	c.(49-51)aaG>aaA	p.K17K		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	17					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	TAAGACCCAAGACCATCACTG	0.478																																							uc003pli.2		NA																	0				ovary(2)|skin(1)	3						c.(49-51)AAG>AAA		5-hydroxytryptamine (serotonin) receptor 1E	Eletriptan(DB00216)						135.0	112.0	120.0					6																	87725103		2203	4300	6503	SO:0001819	synonymous_variant	3354				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	g.chr6:87725103G>A		CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5291	protein-coding gene	gene with protein product		182132	"""5-hydroxytryptamine (serotonin) receptor 1E"""			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.51G>A	6.37:g.87725103G>A							p.K17K	NM_000865	NP_000856	P28566	5HT1E_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.055)	2	754	+		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)	17			Extracellular (By similarity).		E1P503|Q9P1Y1	Silent	SNP	ENST00000305344.5	37	c.51G>A	CCDS5006.1																																																																																				0.478	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865		12	35	0	0	0	0.001855	0	12	35				
GPR63	81491	broad.mit.edu	37	6	97247545	97247545	+	Silent	SNP	C	C	A	rs368804009		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:97247545C>A	ENST00000229955.3	-	2	408	c.63G>T	c.(61-63)gtG>gtT	p.V21V	GPR63_ENST00000417980.1_Silent_p.V21V	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	21			V -> M (in dbSNP:rs35358396).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		TGTTTTCATACACGACAAATG	0.468																																							uc010kcl.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(61-63)GTG>GTT		G protein-coupled receptor 63							133.0	120.0	124.0					6																	97247545		2203	4300	6503	SO:0001819	synonymous_variant	81491					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr6:97247545C>A	AF317654	CCDS5036.1	6q16.1-q16.3	2012-08-21			ENSG00000112218	ENSG00000112218		"""GPCR / Class A : Orphans"""	13302	protein-coding gene	gene with protein product		606915					Standard	NM_030784		Approved	PSP24(beta), PSP24B	uc003pou.3	Q9BZJ6	OTTHUMG00000015245	ENST00000229955.3:c.63G>T	6.37:g.97247545C>A						GPR63_uc003pou.2_Silent_p.V21V	p.V21V	NM_001143957	NP_001137429	Q9BZJ6	GPR63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0912)	3	541	-		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)	21			Extracellular (Potential).		Q9UJH3	Silent	SNP	ENST00000229955.3	37	c.63G>T	CCDS5036.1																																																																																				0.468	GPR63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041566.2			11	81	1	0	7.03913e-09	0.001368	9.3457e-09	11	81				
PRDM1	639	broad.mit.edu	37	6	106553510	106553510	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:106553510C>G	ENST00000369096.4	+	5	1709	c.1475C>G	c.(1474-1476)cCc>cGc	p.P492R	PRDM1_ENST00000369091.2_Missense_Mutation_p.P456R|PRDM1_ENST00000369089.3_Missense_Mutation_p.P358R	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	492					cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		GTCCCGGCGCCCCACAGTGCC	0.682			"""D, N, Mis, F, S"""		DLBCL																																		uc003prd.2		NA		Rec	yes		6	6q21	639	D|N|Mis|F|S	"""PR domain containing 1, with ZNF domain"""			L			DLBCL		0				haematopoietic_and_lymphoid_tissue(54)|ovary(1)|skin(1)	56						c.(1474-1476)CCC>CGC		PR domain containing 1, with ZNF domain isoform							29.0	37.0	34.0					6																	106553510		2203	4298	6501	SO:0001583	missense	639				negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:106553510C>G		CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657		"""Zinc fingers, C2H2-type"""	9346	protein-coding gene	gene with protein product		603423		BLIMP1		1851123	Standard	NM_001198		Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369096.4:c.1475C>G	6.37:g.106553510C>G	ENSP00000358092:p.Pro492Arg					PRDM1_uc003pre.2_Missense_Mutation_p.P358R	p.P492R	NM_001198	NP_001189	O75626	PRDM1_HUMAN		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)	5	1709	+	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)	492					B2REA6|E1P5E0|Q86WM7	Missense_Mutation	SNP	ENST00000369096.4	37	c.1475C>G	CCDS5054.2	.	.	.	.	.	.	.	.	.	.	C	16.71	3.197469	0.58126	.	.	ENSG00000057657	ENST00000369091;ENST00000369096;ENST00000456278;ENST00000369089	T;T;T	0.09163	3.05;3.01;3.03	5.74	3.91	0.45181	.	0.141285	0.64402	D	0.000003	T	0.07548	0.0190	M	0.62723	1.935	0.44268	D	0.997123	P;B	0.43938	0.822;0.011	P;B	0.44647	0.456;0.008	T	0.03969	-1.0988	10	0.66056	D	0.02	-17.644	7.184	0.25789	0.1284:0.6798:0.1239:0.0678	.	358;492	Q86WM7;O75626	.;PRDM1_HUMAN	R	456;492;455;358	ENSP00000358087:P456R;ENSP00000358092:P492R;ENSP00000358085:P358R	ENSP00000358085:P358R	P	+	2	0	PRDM1	106660203	0.991000	0.36638	0.991000	0.47740	0.893000	0.52053	2.597000	0.46214	1.435000	0.47434	0.655000	0.94253	CCC		0.682	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041661.3			16	34	0	0	0	0.004007	0	16	34				
WASF1	8936	broad.mit.edu	37	6	110422792	110422792	+	Splice_Site	SNP	T	T	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:110422792T>G	ENST00000392589.1	-	10	2357	c.1521A>C	c.(1519-1521)aaA>aaC	p.K507N	WASF1_ENST00000392588.1_Splice_Site_p.K507N|WASF1_ENST00000392587.2_Splice_Site_p.K507N|WASF1_ENST00000359451.2_Splice_Site_p.K507N|WASF1_ENST00000392586.1_Splice_Site_p.K507N	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	507	WH2. {ECO:0000255|PROSITE- ProRule:PRU00406}.				actin filament polymerization (GO:0030041)|cellular component movement (GO:0006928)|lamellipodium morphogenesis (GO:0072673)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|Rac protein signal transduction (GO:0016601)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|lamellipodium (GO:0030027)|mitochondrial outer membrane (GO:0005741)|SCAR complex (GO:0031209)|synapse (GO:0045202)	protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		GAAAATTACCTTTTCGTATTG	0.383																																							uc003ptv.1		NA																	0					0						c.(1519-1521)AAA>AAC		Wiskott-Aldrich syndrome protein family member							97.0	97.0	97.0					6																	110422792		2203	4300	6503	SO:0001630	splice_region_variant	8936				actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding	g.chr6:110422792T>G	D87459	CCDS5080.1	6q21	2010-08-20			ENSG00000112290	ENSG00000112290		"""A-kinase anchor proteins"""	12732	protein-coding gene	gene with protein product		605035				9843499, 9889097	Standard	XM_005267204		Approved	WAVE1, SCAR1, KIAA0269, WAVE	uc003pty.1	Q92558	OTTHUMG00000015357	ENST00000392589.1:c.1522+1A>C	6.37:g.110422792T>G						WASF1_uc003ptw.1_Missense_Mutation_p.K507N|WASF1_uc003ptx.1_Missense_Mutation_p.K507N|WASF1_uc003pty.1_Missense_Mutation_p.K507N	p.K507N	NM_003931	NP_003922	Q92558	WASF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)	10	2358	-		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)	507			WH2.		E1P5F2|Q5SZK7	Missense_Mutation	SNP	ENST00000392589.1	37	c.1521A>C	CCDS5080.1	.	.	.	.	.	.	.	.	.	.	T	19.66	3.869742	0.72065	.	.	ENSG00000112290	ENST00000392586;ENST00000392587;ENST00000392589;ENST00000392588;ENST00000359451	T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79	5.86	5.86	0.93980	Actin-binding WH2 (3);	0.000000	0.85682	D	0.000000	T	0.39226	0.1070	N	0.14661	0.345	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.35549	-0.9784	10	0.17832	T	0.49	.	16.2403	0.82402	0.0:0.0:0.0:1.0	.	507	Q92558	WASF1_HUMAN	N	507	ENSP00000376365:K507N;ENSP00000376366:K507N;ENSP00000376368:K507N;ENSP00000376367:K507N;ENSP00000352425:K507N	ENSP00000352425:K507N	K	-	3	2	WASF1	110529485	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.785000	0.68998	2.237000	0.73441	0.533000	0.62120	AAA		0.383	WASF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041784.3	NM_003931	Missense_Mutation	12	73	0	0	0	0.003163	0	12	73				
DDO	8528	broad.mit.edu	37	6	110734560	110734560	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:110734560C>A	ENST00000368924.3	-	2	205	c.190G>T	c.(190-192)Gac>Tac	p.D64Y	DDO_ENST00000368923.3_Missense_Mutation_p.D64Y	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	36					aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|D-amino acid catabolic process (GO:0019478)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insemination (GO:0007320)|oxidation-reduction process (GO:0055114)	peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-aspartate oxidase activity (GO:0008445)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		GTAAACTTGTCTGAAATGATG	0.517																																							uc003puc.2		NA																	0				ovary(2)|breast(1)	3						c.(190-192)GAC>TAC		D-aspartate oxidase isoform a							156.0	138.0	144.0					6																	110734560		2203	4300	6503	SO:0001583	missense	8528				aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity	g.chr6:110734560C>A	D89858	CCDS5082.1, CCDS5083.1	6q22.1	2008-02-05			ENSG00000203797	ENSG00000203797	1.4.3.1		2727	protein-coding gene	gene with protein product		124450				9163533	Standard	NM_003649		Approved		uc003puc.3	Q99489	OTTHUMG00000015360	ENST00000368924.3:c.190G>T	6.37:g.110734560C>A	ENSP00000357920:p.Asp64Tyr					C6orf186_uc003pub.2_5'Flank|DDO_uc003pud.2_Missense_Mutation_p.D64Y	p.D64Y	NM_003649	NP_003640	Q99489	OXDD_HUMAN		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)	2	194	-		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)	36			FAD (By similarity).		A8KAG4|Q5JXM4|Q5JXM5|Q5JXM6|Q8N552	Missense_Mutation	SNP	ENST00000368924.3	37	c.190G>T	CCDS5082.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.381286	0.82792	.	.	ENSG00000203797	ENST00000368924;ENST00000368923;ENST00000368925	T;T;T	0.42900	0.96;0.96;0.96	5.32	5.32	0.75619	.	0.105878	0.64402	D	0.000008	T	0.67552	0.2905	M	0.90542	3.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.989	T	0.75204	-0.3400	10	0.72032	D	0.01	-16.1493	18.6022	0.91253	0.0:1.0:0.0:0.0	.	64;64	Q99489-4;Q99489-3	.;.	Y	64;64;36	ENSP00000357920:D64Y;ENSP00000357919:D64Y;ENSP00000357921:D36Y	ENSP00000357919:D64Y	D	-	1	0	DDO	110841253	1.000000	0.71417	0.711000	0.30485	0.018000	0.09664	5.335000	0.65929	2.475000	0.83589	0.462000	0.41574	GAC		0.517	DDO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041796.1			32	125	1	0	2.32173e-10	0.004878	3.22656e-10	32	125				
RFX6	222546	broad.mit.edu	37	6	117237403	117237403	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:117237403G>T	ENST00000332958.2	+	9	914	c.898G>T	c.(898-900)Gac>Tac	p.D300Y	RFX6_ENST00000471966.1_3'UTR	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	300					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)	p.D300N(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						AGGAATGCCTGACCATCTCCT	0.338																																							uc003pxm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(898-900)GAC>TAC		regulatory factor X, 6							155.0	152.0	153.0					6																	117237403		2203	4300	6503	SO:0001583	missense	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117237403G>T	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.898G>T	6.37:g.117237403G>T	ENSP00000332208:p.Asp300Tyr						p.D300Y	NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN			9	961	+			300					Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	37	c.898G>T	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.882105	0.72294	.	.	ENSG00000185002	ENST00000332958	T	0.58060	0.36	5.62	5.62	0.85841	.	0.151322	0.64402	D	0.000018	T	0.60418	0.2267	L	0.57536	1.79	0.58432	D	0.999996	D	0.69078	0.997	P	0.57679	0.825	T	0.63256	-0.6678	10	0.72032	D	0.01	-17.8115	19.6354	0.95731	0.0:0.0:1.0:0.0	.	300	Q8HWS3	RFX6_HUMAN	Y	300	ENSP00000332208:D300Y	ENSP00000332208:D300Y	D	+	1	0	RFX6	117344096	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	7.639000	0.83342	2.641000	0.89580	0.591000	0.81541	GAC		0.338	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		36	85	1	0	3.54561e-26	0.009718	6.22469e-26	36	85				
MAN1A1	4121	broad.mit.edu	37	6	119669822	119669822	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:119669822C>A	ENST00000368468.3	-	2	850	c.409G>T	c.(409-411)Gag>Tag	p.E137*	MAN1A1_ENST00000368466.2_Nonsense_Mutation_p.E137*	NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	137					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|mannosidase activity (GO:0015923)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		TGCAGGGTCTCCTTGGCTTCC	0.657																																					Ovarian(136;8 1825 12608 33541 47587)	Ovarian(136;8 1825 12608 33541 47587)	uc003pym.1		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(409-411)GAG>TAG		mannosidase, alpha, class 1A, member 1							63.0	66.0	65.0					6																	119669822		2203	4300	6503	SO:0001587	stop_gained	4121				post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr6:119669822C>A	AK025599	CCDS5122.1	6q22	2008-08-29			ENSG00000111885	ENSG00000111885	3.2.1.113		6821	protein-coding gene	gene with protein product		604344				8223597	Standard	NM_005907		Approved		uc003pym.2	P33908	OTTHUMG00000015472	ENST00000368468.3:c.409G>T	6.37:g.119669822C>A	ENSP00000357453:p.Glu137*					MAN1A1_uc010kei.1_Nonsense_Mutation_p.E137*	p.E137*	NM_005907	NP_005898	P33908	MA1A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)	2	851	-		all_epithelial(87;0.173)	137			Lumenal (Potential).		E7EU32|Q6P052|Q9NU44|Q9UJI3	Nonsense_Mutation	SNP	ENST00000368468.3	37	c.409G>T	CCDS5122.1	.	.	.	.	.	.	.	.	.	.	C	43	10.422358	0.99402	.	.	ENSG00000111885	ENST00000368468;ENST00000368466	.	.	.	4.87	4.87	0.63330	.	0.156049	0.53938	D	0.000042	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.1199	17.613	0.88059	0.0:1.0:0.0:0.0	.	.	.	.	X	137	.	.	E	-	1	0	MAN1A1	119711521	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.890000	0.75633	2.251000	0.74343	0.455000	0.32223	GAG		0.657	MAN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042015.1	NM_005907		9	39	1	0	9.70103e-10	0.008291	1.33322e-09	9	39				
THEMIS	387357	broad.mit.edu	37	6	128134522	128134522	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:128134522C>G	ENST00000368248.2	-	4	1412	c.1264G>C	c.(1264-1266)Gag>Cag	p.E422Q	THEMIS_ENST00000368250.1_Missense_Mutation_p.E343Q|THEMIS_ENST00000537166.1_Missense_Mutation_p.E387Q|THEMIS_ENST00000543064.1_Missense_Mutation_p.E422Q	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	422	CABIT 2.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						AGCGCAGCCTCATAGGACTTT	0.438																																							uc003qbi.2		NA																	0				ovary(2)|skin(2)	4						c.(1264-1266)GAG>CAG		thymocyte selection pathway associated isoform							85.0	90.0	88.0					6																	128134522		2203	4300	6503	SO:0001583	missense	387357				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		g.chr6:128134522C>G	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.1264G>C	6.37:g.128134522C>G	ENSP00000357231:p.Glu422Gln					THEMIS_uc010kfa.2_Missense_Mutation_p.E325Q|THEMIS_uc011ebt.1_Missense_Mutation_p.E422Q|THEMIS_uc010kfb.2_Missense_Mutation_p.E387Q	p.E422Q	NM_001010923	NP_001010923	Q8N1K5	THMS1_HUMAN			5	1583	-			422			CABIT 2.		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	ENST00000368248.2	37	c.1264G>C	CCDS34534.1	.	.	.	.	.	.	.	.	.	.	C	8.470	0.857389	0.17106	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166	T;T;T;T	0.17054	2.3;2.3;2.3;2.3	5.69	2.91	0.33838	.	0.233852	0.41605	N	0.000844	T	0.19725	0.0474	M	0.70842	2.15	0.25525	N	0.987338	D;B	0.76494	0.999;0.126	D;B	0.72338	0.977;0.111	T	0.06954	-1.0798	10	0.56958	D	0.05	-7.265	5.8962	0.18941	0.0:0.5917:0.1385:0.2698	.	422;422	F5H1J9;Q8N1K5	.;THMS1_HUMAN	Q	343;422;422;387	ENSP00000357233:E343Q;ENSP00000439594:E422Q;ENSP00000357231:E422Q;ENSP00000439863:E387Q	ENSP00000357231:E422Q	E	-	1	0	THEMIS	128176215	0.913000	0.31002	0.110000	0.21437	0.029000	0.11900	1.545000	0.36169	0.323000	0.23307	0.563000	0.77884	GAG		0.438	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923		14	35	0	0	0	0.003163	0	14	35				
THEMIS	387357	broad.mit.edu	37	6	128134779	128134779	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:128134779G>T	ENST00000368248.2	-	4	1155	c.1007C>A	c.(1006-1008)aCt>aAt	p.T336N	THEMIS_ENST00000368250.1_Missense_Mutation_p.T257N|THEMIS_ENST00000537166.1_Missense_Mutation_p.T301N|THEMIS_ENST00000543064.1_Missense_Mutation_p.T336N	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	336	CABIT 2.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TTTATAGCTAGTGGGGATCAA	0.468																																							uc003qbi.2		NA																	0				ovary(2)|skin(2)	4						c.(1006-1008)ACT>AAT		thymocyte selection pathway associated isoform							87.0	91.0	89.0					6																	128134779		2203	4300	6503	SO:0001583	missense	387357				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		g.chr6:128134779G>T	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.1007C>A	6.37:g.128134779G>T	ENSP00000357231:p.Thr336Asn					THEMIS_uc010kfa.2_Missense_Mutation_p.T239N|THEMIS_uc011ebt.1_Missense_Mutation_p.T336N|THEMIS_uc010kfb.2_Missense_Mutation_p.T301N	p.T336N	NM_001010923	NP_001010923	Q8N1K5	THMS1_HUMAN			5	1326	-			336			CABIT 2.		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	ENST00000368248.2	37	c.1007C>A	CCDS34534.1	.	.	.	.	.	.	.	.	.	.	G	6.935	0.542308	0.13250	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166;ENST00000434358	T;T;T;T;T	0.13901	2.55;2.55;2.55;2.55;2.55	5.46	0.297	0.15762	.	0.883160	0.10158	N	0.708627	T	0.02267	0.0070	L	0.54323	1.7	0.09310	N	1	P;P	0.43094	0.799;0.642	B;B	0.32022	0.111;0.139	T	0.41016	-0.9532	10	0.16420	T	0.52	-0.0611	1.0205	0.01516	0.2827:0.1129:0.3736:0.2308	.	336;336	F5H1J9;Q8N1K5	.;THMS1_HUMAN	N	257;336;336;301;104	ENSP00000357233:T257N;ENSP00000439594:T336N;ENSP00000357231:T336N;ENSP00000439863:T301N;ENSP00000387740:T104N	ENSP00000357231:T336N	T	-	2	0	THEMIS	128176472	0.003000	0.15002	0.887000	0.34795	0.978000	0.69477	0.243000	0.18106	-0.256000	0.09473	0.462000	0.41574	ACT		0.468	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923		11	41	1	0	0.000151284	0.001855	0.000170553	11	41				
LAMA2	3908	broad.mit.edu	37	6	129573242	129573242	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:129573242G>T	ENST00000421865.2	+	14	1947	c.1898G>T	c.(1897-1899)aGc>aTc	p.S633I		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	633	Laminin IV type A 1. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AATGACTTGAGCATCAGCACA	0.358																																							uc003qbn.2		NA																	0				ovary(8)|breast(1)|skin(1)	10						c.(1897-1899)AGC>ATC		laminin alpha 2 subunit isoform a precursor							74.0	67.0	69.0					6																	129573242		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129573242G>T	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.1898G>T	6.37:g.129573242G>T	ENSP00000400365:p.Ser633Ile					LAMA2_uc003qbo.2_Missense_Mutation_p.S633I	p.S633I	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	14	2003	+			633			Laminin IV type A 1.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.1898G>T	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.449763	0.26074	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.34859	1.34	5.67	3.87	0.44632	Laminin B type IV (2);Laminin B, subgroup (1);	0.269957	0.34507	N	0.003910	T	0.12092	0.0294	L	0.35542	1.07	0.20764	N	0.999857	B;B	0.17268	0.021;0.021	B;B	0.09377	0.004;0.004	T	0.12293	-1.0553	10	0.45353	T	0.12	.	10.3389	0.43866	0.265:0.0:0.735:0.0	.	633;633	A6NF00;P24043	.;LAMA2_HUMAN	I	633	ENSP00000400365:S633I	ENSP00000346769:S633I	S	+	2	0	LAMA2	129614935	1.000000	0.71417	0.999000	0.59377	0.875000	0.50365	0.758000	0.26447	1.537000	0.49254	0.585000	0.79938	AGC		0.358	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			5	24	1	0	3.59834e-05	0.001168	4.13823e-05	5	24				
LAMA2	3908	broad.mit.edu	37	6	129618855	129618855	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:129618855C>A	ENST00000421865.2	+	21	2931	c.2882C>A	c.(2881-2883)gCa>gAa	p.A961E		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	961	Laminin EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CTACAATCAGCAAGGGGCTGT	0.453																																							uc003qbn.2		NA																	0				ovary(8)|breast(1)|skin(1)	10						c.(2881-2883)GCA>GAA		laminin alpha 2 subunit isoform a precursor							99.0	88.0	92.0					6																	129618855		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129618855C>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.2882C>A	6.37:g.129618855C>A	ENSP00000400365:p.Ala961Glu					LAMA2_uc003qbo.2_Missense_Mutation_p.A961E	p.A961E	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	21	2987	+			961			Laminin EGF-like 9.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.2882C>A	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	9.218	1.032620	0.19590	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.54675	0.56	5.59	-4.2	0.03823	EGF-like, laminin (4);	0.824035	0.10948	N	0.616427	T	0.16085	0.0387	N	0.03115	-0.41	0.09310	N	1	B;B	0.32467	0.372;0.213	B;B	0.30105	0.111;0.082	T	0.01956	-1.1240	10	0.42905	T	0.14	.	26.1228	0.99996	0.0:0.228:0.772:0.0	.	961;961	A6NF00;P24043	.;LAMA2_HUMAN	E	961	ENSP00000400365:A961E	ENSP00000346769:A961E	A	+	2	0	LAMA2	129660548	0.004000	0.15560	0.004000	0.12327	0.350000	0.29205	1.253000	0.32886	-1.433000	0.01977	-0.181000	0.13052	GCA		0.453	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			8	49	1	0	1.58986e-06	0.008291	1.94739e-06	8	49				
MOXD1	26002	broad.mit.edu	37	6	132695876	132695876	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:132695876G>A	ENST00000367963.3	-	2	423	c.305C>T	c.(304-306)gCt>gTt	p.A102V	MOXD1_ENST00000336749.3_Missense_Mutation_p.A34V	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	102	DOMON. {ECO:0000255|PROSITE- ProRule:PRU00246}.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		ATCTTGCTGAGCATCTTTTTT	0.323																																							uc003qdf.2		NA																	0				ovary(1)	1						c.(304-306)GCT>GTT		monooxygenase, DBH-like 1 isoform 2							176.0	166.0	169.0					6																	132695876		2203	4299	6502	SO:0001583	missense	26002				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	g.chr6:132695876G>A	AY007239	CCDS5152.2	6q23.2	2010-09-24			ENSG00000079931	ENSG00000079931			21063	protein-coding gene	gene with protein product		609000				9751809	Standard	XM_006715456		Approved	DKFZP564G202, MOX, dJ248E1.1	uc003qdf.3	Q6UVY6	OTTHUMG00000055853	ENST00000367963.3:c.305C>T	6.37:g.132695876G>A	ENSP00000356940:p.Ala102Val					MOXD1_uc003qde.2_Missense_Mutation_p.A34V	p.A102V	NM_015529	NP_056344	Q6UVY6	MOXD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)	2	404	-	Breast(56;0.0495)		102			Lumenal (Potential).|DOMON.		Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	Missense_Mutation	SNP	ENST00000367963.3	37	c.305C>T	CCDS5152.2	.	.	.	.	.	.	.	.	.	.	G	8.894	0.954748	0.18431	.	.	ENSG00000079931	ENST00000367963;ENST00000336749	T;T	0.77358	-1.09;-1.09	5.62	-2.4	0.06583	DOMON domain (3);	1.602660	0.03578	N	0.229695	T	0.43656	0.1257	L	0.31420	0.93	0.09310	N	1	B;B	0.22983	0.04;0.078	B;B	0.23275	0.045;0.036	T	0.30707	-0.9969	10	0.35671	T	0.21	-29.2759	5.9251	0.19108	0.18:0.0:0.3951:0.4248	.	102;34	Q6UVY6;Q6UVY6-2	MOXD1_HUMAN;.	V	102;34	ENSP00000356940:A102V;ENSP00000336998:A34V	ENSP00000336998:A34V	A	-	2	0	MOXD1	132737569	0.001000	0.12720	0.000000	0.03702	0.543000	0.35085	0.736000	0.26130	-0.469000	0.06911	-0.793000	0.03317	GCT		0.323	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000125837.1	NM_015529		11	34	0	0	0	0.008291	0	11	34				
TCF21	6943	broad.mit.edu	37	6	134210578	134210578	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:134210578G>T	ENST00000367882.4	+	1	303	c.43G>T	c.(43-45)Gtg>Ttg	p.V15L	RP3-323P13.2_ENST00000607033.1_RNA|RP3-323P13.2_ENST00000606544.1_RNA|TCF21_ENST00000237316.3_Missense_Mutation_p.V15L|RP3-323P13.2_ENST00000607641.1_RNA|RP3-323P13.2_ENST00000607573.1_RNA	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	15					branching involved in ureteric bud morphogenesis (GO:0001658)|branchiomeric skeletal muscle development (GO:0014707)|bronchiole development (GO:0060435)|diaphragm development (GO:0060539)|embryonic digestive tract morphogenesis (GO:0048557)|epithelial cell differentiation (GO:0030855)|gland development (GO:0048732)|glomerulus development (GO:0032835)|kidney development (GO:0001822)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lung vasculature development (GO:0060426)|metanephric glomerular capillary formation (GO:0072277)|metanephric mesenchymal cell differentiation (GO:0072162)|morphogenesis of a branching structure (GO:0001763)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|reproductive structure development (GO:0048608)|respiratory system development (GO:0060541)|Sertoli cell differentiation (GO:0060008)|sex determination (GO:0007530)|spleen development (GO:0048536)|ureteric bud development (GO:0001657)|vasculature development (GO:0001944)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		CCTTCAAGAGGTGGAGATGTT	0.532																																							uc003qei.3		NA																	0					0						c.(43-45)GTG>TTG		transcription factor 21							99.0	103.0	102.0					6																	134210578		2203	4300	6503	SO:0001583	missense	6943				branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:134210578G>T	AF047419	CCDS5167.1	6q23.2	2014-09-17			ENSG00000118526	ENSG00000118526		"""Basic helix-loop-helix proteins"""	11632	protein-coding gene	gene with protein product		603306				9507058	Standard	NM_198392		Approved	POD1, bHLHa23	uc003qei.4	O43680	OTTHUMG00000015608	ENST00000367882.4:c.43G>T	6.37:g.134210578G>T	ENSP00000356857:p.Val15Leu					uc003qeg.1_5'Flank|TCF21_uc003qej.2_Missense_Mutation_p.V15L	p.V15L	NM_003206	NP_003197	O43680	TCF21_HUMAN		GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)	1	319	+	Colorectal(23;0.221)|Breast(56;0.247)		15					E1P581|O43545|Q6ICV0|Q9BZ14	Missense_Mutation	SNP	ENST00000367882.4	37	c.43G>T	CCDS5167.1	.	.	.	.	.	.	.	.	.	.	G	10.06	1.245992	0.22796	.	.	ENSG00000118526	ENST00000367882;ENST00000237316	D;D	0.96104	-3.91;-3.91	4.43	4.43	0.53597	.	0.276262	0.28566	N	0.014881	D	0.85111	0.5622	N	0.25647	0.755	0.36629	D	0.876162	B	0.23854	0.092	B	0.14023	0.01	T	0.81731	-0.0799	10	0.09084	T	0.74	-23.2843	17.0357	0.86474	0.0:0.0:1.0:0.0	.	15	O43680	TCF21_HUMAN	L	15	ENSP00000356857:V15L;ENSP00000237316:V15L	ENSP00000237316:V15L	V	+	1	0	TCF21	134252271	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	3.284000	0.51708	2.004000	0.58718	0.313000	0.20887	GTG		0.532	TCF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042292.1	NM_198392		32	81	1	0	3.21399e-22	0.004878	5.4682e-22	32	81				
GPR126	57211	broad.mit.edu	37	6	142732545	142732545	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:142732545G>A	ENST00000230173.6	+	18	3014	c.2538G>A	c.(2536-2538)ctG>ctA	p.L846L	GPR126_ENST00000367608.2_Silent_p.L818L|GPR126_ENST00000367609.3_Silent_p.L846L|GPR126_ENST00000296932.8_Silent_p.L818L	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	846	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		TTGGAGTTCTGATGGTAAGGG	0.403																																							uc010khc.2		NA																	0				ovary(1)	1						c.(2536-2538)CTG>CTA		G protein-coupled receptor 126 alpha 1							172.0	167.0	168.0					6																	142732545		1929	4138	6067	SO:0001819	synonymous_variant	57211				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:142732545G>A	AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"""-"", ""GPCR / Class B : Orphans"""	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.2538G>A	6.37:g.142732545G>A						GPR126_uc010khd.2_Silent_p.L818L|GPR126_uc010khe.2_Silent_p.L846L|GPR126_uc010khf.2_Silent_p.L818L	p.L846L	NM_020455	NP_065188	Q86SQ4	GP126_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)	18	2949	+	Breast(32;0.176)		846			GPS.|Extracellular (Potential).		Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Silent	SNP	ENST00000230173.6	37	c.2538G>A	CCDS47490.1																																																																																				0.403	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2			17	106	0	0	0	0.007413	0	17	106				
LATS1	9113	broad.mit.edu	37	6	150001244	150001244	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:150001244C>A	ENST00000543571.1	-	5	2907	c.2360G>T	c.(2359-2361)gGg>gTg	p.G787V	LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Missense_Mutation_p.G787V	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		CATATCACCCCCAGGAATGTA	0.388																																							uc003qmu.1		NA																	0				lung(5)|central_nervous_system(1)	6						c.(2359-2361)GGG>GTG		LATS homolog 1							117.0	117.0	117.0					6																	150001244		2203	4300	6503	SO:0001583	missense	9113				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr6:150001244C>A	AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.2360G>T	6.37:g.150001244C>A	ENSP00000437550:p.Gly787Val					LATS1_uc010kif.1_Missense_Mutation_p.G682V|LATS1_uc003qmv.1_Missense_Mutation_p.G787V	p.G787V	NM_004690	NP_004681	O95835	LATS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)	5	2908	-		Ovarian(120;0.0164)	787			Protein kinase.			Missense_Mutation	SNP	ENST00000543571.1	37	c.2360G>T	CCDS34551.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.264342	0.80358	.	.	ENSG00000131023	ENST00000543571;ENST00000253339	T;T	0.11821	2.74;2.74	5.5	5.5	0.81552	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000021	T	0.37571	0.1008	M	0.85542	2.76	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.22277	-1.0221	9	.	.	.	.	19.7653	0.96337	0.0:1.0:0.0:0.0	.	787	O95835	LATS1_HUMAN	V	787	ENSP00000437550:G787V;ENSP00000253339:G787V	.	G	-	2	0	LATS1	150042937	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.730000	0.93505	0.563000	0.77884	GGG		0.388	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690		21	77	1	0	1.50039e-11	0.001882	2.15148e-11	21	77				
NUP43	348995	broad.mit.edu	37	6	150057682	150057682	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:150057682C>G	ENST00000340413.2	-	6	791	c.715G>C	c.(715-717)Gat>Cat	p.D239H	NUP43_ENST00000460354.2_Missense_Mutation_p.D239H|NUP43_ENST00000367403.3_3'UTR|NUP43_ENST00000367404.4_Intron	NM_198887.1	NP_942590.1	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	239					carbohydrate metabolic process (GO:0005975)|chromosome segregation (GO:0007059)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		AACATTCCATCTTGGCCACCA	0.448																																							uc003qmz.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(715-717)GAT>CAT		nucleoporin 43kDa							163.0	129.0	141.0					6																	150057682		2203	4300	6503	SO:0001583	missense	348995				carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding	g.chr6:150057682C>G	AF514997	CCDS5218.1	6q25.1	2013-01-10			ENSG00000120253	ENSG00000120253		"""WD repeat domain containing"""	21182	protein-coding gene	gene with protein product		608141				12196509	Standard	XM_005266961		Approved	bA350J20.1, FLJ13287	uc003qmz.3	Q8NFH3	OTTHUMG00000015795	ENST00000340413.2:c.715G>C	6.37:g.150057682C>G	ENSP00000342262:p.Asp239His					NUP43_uc003qmx.3_RNA|NUP43_uc011eee.1_RNA|NUP43_uc011eef.1_Intron	p.D239H	NM_198887	NP_942590	Q8NFH3	NUP43_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)	6	772	-		Ovarian(120;0.0164)	239			WD 5.		B4E2F0|Q9H8S0	Missense_Mutation	SNP	ENST00000340413.2	37	c.715G>C	CCDS5218.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.937180	0.92458	.	.	ENSG00000120253	ENST00000340413;ENST00000460354	D;D	0.89415	-2.51;-2.51	5.71	5.71	0.89125	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.94456	0.8216	M	0.83384	2.64	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	D	0.94582	0.7780	10	0.87932	D	0	-25.2469	19.4403	0.94817	0.0:1.0:0.0:0.0	.	239	Q8NFH3	NUP43_HUMAN	H	239	ENSP00000342262:D239H;ENSP00000432401:D239H	ENSP00000342262:D239H	D	-	1	0	NUP43	150099375	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.450000	0.80656	2.688000	0.91661	0.603000	0.83216	GAT		0.448	NUP43-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396947.1	NM_198887		11	36	0	0	0	0.001368	0	11	36				
AKAP12	9590	broad.mit.edu	37	6	151672116	151672116	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:151672116C>A	ENST00000253332.1	+	3	2779	c.2590C>A	c.(2590-2592)Caa>Aaa	p.Q864K	AKAP12_ENST00000359755.5_Missense_Mutation_p.Q759K|AKAP12_ENST00000354675.6_Missense_Mutation_p.Q766K|AKAP12_ENST00000402676.2_Missense_Mutation_p.Q864K			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	864					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GGAGGCACAGCAAGCCCAAAA	0.577																																					Melanoma(141;1616 1805 10049 24534 51979)	Melanoma(141;1616 1805 10049 24534 51979)	uc011eep.1		NA																	0				large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8						c.(2590-2592)CAA>AAA		A kinase (PRKA) anchor protein 12 isoform 1							84.0	94.0	90.0					6																	151672116		2203	4300	6503	SO:0001583	missense	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151672116C>A	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.2590C>A	6.37:g.151672116C>A	ENSP00000253332:p.Gln864Lys					AKAP12_uc003qoe.2_Missense_Mutation_p.Q864K|AKAP12_uc003qof.2_Missense_Mutation_p.Q766K|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.Q759K	p.Q864K	NM_005100	NP_005091	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	2830	+		Ovarian(120;0.125)	864					O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	c.2590C>A	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.611854	0.46631	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.06294	3.32;3.32;3.33;3.33	4.98	0.963	0.19649	.	0.797944	0.10641	N	0.650981	T	0.01489	0.0048	M	0.64997	1.995	0.09310	N	1	B;B;B	0.28850	0.225;0.225;0.144	B;B;B	0.20955	0.032;0.032;0.014	T	0.48937	-0.8990	10	0.05525	T	0.97	.	6.7629	0.23550	0.1174:0.4348:0.3795:0.0683	.	759;766;864	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	K	864;864;766;759	ENSP00000384537:Q864K;ENSP00000253332:Q864K;ENSP00000346702:Q766K;ENSP00000352794:Q759K	ENSP00000253332:Q864K	Q	+	1	0	AKAP12	151713809	0.024000	0.19004	0.116000	0.21606	0.567000	0.35839	0.078000	0.14761	0.111000	0.17947	0.561000	0.74099	CAA		0.577	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			12	64	1	0	0.00136819	0.001368	0.0014818	12	64				
CLDN20	49861	broad.mit.edu	37	6	155597019	155597019	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:155597019T>A	ENST00000367165.3	+	2	546	c.166T>A	c.(166-168)Tgg>Agg	p.W56R	TFB1M_ENST00000367166.4_Intron	NM_001001346.3	NP_001001346.1	P56880	CLD20_HUMAN	claudin 20	56					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|lung(2)	3				OV - Ovarian serous cystadenocarcinoma(155;7.82e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0114)		GGACTGTACGTGGTACAGCAC	0.567																																							uc003qql.1		NA																	0					0						c.(166-168)TGG>AGG		claudin 20							151.0	122.0	132.0					6																	155597019		2203	4300	6503	SO:0001583	missense	49861				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr6:155597019T>A	BC020838	CCDS5249.1	6q25	2008-08-01			ENSG00000171217	ENSG00000171217		"""Claudins"""	2042	protein-coding gene	gene with protein product						16836752	Standard	NM_001001346		Approved		uc003qql.2	P56880	OTTHUMG00000015882	ENST00000367165.3:c.166T>A	6.37:g.155597019T>A	ENSP00000356133:p.Trp56Arg					TFB1M_uc003qqj.3_Intron|TFB1M_uc003qqk.2_Intron	p.W56R	NM_001001346	NP_001001346	P56880	CLD20_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;7.82e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0114)	2	546	+			56			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000367165.3	37	c.166T>A	CCDS5249.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.171799	0.78452	.	.	ENSG00000171217	ENST00000367165	D	0.88354	-2.37	5.51	5.51	0.81932	Claudin, conserved site (1);	0.062561	0.64402	D	0.000002	D	0.88916	0.6567	L	0.35854	1.095	0.58432	D	0.999995	D	0.76494	0.999	D	0.72338	0.977	D	0.88231	0.2903	10	0.32370	T	0.25	.	15.657	0.77144	0.0:0.0:0.0:1.0	.	56	P56880	CLD20_HUMAN	R	56	ENSP00000356133:W56R	ENSP00000356133:W56R	W	+	1	0	CLDN20	155638711	1.000000	0.71417	0.998000	0.56505	0.757000	0.42996	8.040000	0.89188	2.097000	0.63578	0.533000	0.62120	TGG		0.567	CLDN20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042818.1	NM_001001346		27	51	0	0	0	0.003271	0	27	51				
ZDHHC14	79683	broad.mit.edu	37	6	158053870	158053871	+	Nonsense_Mutation	DNP	AC	AC	TT			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	AC	AC	-	-	AC	AC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:158053870_158053871AC>TT	ENST00000359775.5	+	5	1597_1598	c.708_709AC>TT	c.(706-711)tcACag>tcTTag	p.Q237*	ZDHHC14_ENST00000414563.2_Nonsense_Mutation_p.Q237*|ZDHHC14_ENST00000341375.8_3'UTR			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	237					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		CCACAGGTTCACAGCAAACAGG	0.391																																							uc003qqt.2		NA																	0				ovary(1)|skin(1)	2						c.(706-711)TCACAG>TCTTAG		zinc finger, DHHC-type containing 14 isoform 1																																				SO:0001587	stop_gained	79683					integral to membrane	acyltransferase activity|zinc ion binding	g.chr6:158053870_158053871AC>TT	AF542388	CCDS5252.1, CCDS47510.1	6q25.3	2008-05-02			ENSG00000175048	ENSG00000175048		"""Zinc fingers, DHHC-type"""	20341	protein-coding gene	gene with protein product							Standard	NM_024630		Approved	FLJ20984, NEW1CP	uc003qqt.3	Q8IZN3	OTTHUMG00000015896	Exception_encountered	6.37:g.158053870_158053871delinsTT	ENSP00000352821:p.Gln237*					ZDHHC14_uc003qqs.2_Nonsense_Mutation_p.Q237*|ZDHHC14_uc003qqu.1_RNA	p.Q237*	NM_024630	NP_078906	Q8IZN3	ZDH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)	5	1205_1206	+		Breast(66;0.00586)|Ovarian(120;0.123)	237					A6NDB7|Q5JS07|Q5JS08|Q6PHS4|Q8IZN2|Q9H7F1	Nonsense_Mutation	DNP	ENST00000359775.5	37	c.708_709AC>TT	CCDS5252.1																																																																																				0.391	ZDHHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042841.2	NM_153746		76	228	0	0	0	0.004672	0	76	228				
IGF2R	3482	broad.mit.edu	37	6	160430102	160430102	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:160430102G>C	ENST00000356956.1	+	3	498	c.350G>C	c.(349-351)tGt>tCt	p.C117S	AIRN_ENST00000601203.1_RNA|AIRN_ENST00000609176.1_RNA	NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	117					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	ACAGTGAGCTGTGACCAGCAA	0.448																																							uc003qta.2		NA																	0				ovary(3)	3						c.(349-351)TGT>TCT		insulin-like growth factor 2 receptor precursor							108.0	101.0	103.0					6																	160430102		2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160430102G>C	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.350G>C	6.37:g.160430102G>C	ENSP00000349437:p.Cys117Ser						p.C117S	NM_000876	NP_000867	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	3	498	+		Breast(66;0.000777)|Ovarian(120;0.0305)	117			1.|Lumenal (Potential).		Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.350G>C	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.374875	0.82573	.	.	ENSG00000197081	ENST00000356956	T	0.38722	1.12	5.49	5.49	0.81192	Mannose-6-phosphate receptor, binding (1);	0.000000	0.85682	D	0.000000	T	0.60521	0.2275	M	0.76170	2.325	0.58432	D	0.999993	D	0.89917	1.0	D	0.80764	0.994	T	0.62348	-0.6873	10	0.62326	D	0.03	-25.7086	18.5211	0.90952	0.0:0.0:1.0:0.0	.	117	P11717	MPRI_HUMAN	S	117	ENSP00000349437:C117S	ENSP00000349437:C117S	C	+	2	0	IGF2R	160350092	1.000000	0.71417	0.015000	0.15790	0.072000	0.16883	6.272000	0.72575	2.722000	0.93159	0.655000	0.94253	TGT		0.448	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		31	42	0	0	0	0.002445	0	31	42				
PARK2	5071	broad.mit.edu	37	6	161969912	161969912	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:161969912C>A	ENST00000366898.1	-	9	1159	c.1057G>T	c.(1057-1059)Gaa>Taa	p.E353*	PARK2_ENST00000366897.1_Nonsense_Mutation_p.E325*|PARK2_ENST00000366896.1_Nonsense_Mutation_p.E204*|PARK2_ENST00000366892.1_Nonsense_Mutation_p.E353*|PARK2_ENST00000338468.3_Nonsense_Mutation_p.E162*|PARK2_ENST00000366894.1_Nonsense_Mutation_p.E162*	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	353					adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		TTGCCCCCTTCGCAGGTGACT	0.622																																							uc003qtx.3		NA																	0				upper_aerodigestive_tract(1)	1						c.(1057-1059)GAA>TAA		parkin isoform 1							77.0	81.0	80.0					6																	161969912		2203	4300	6503	SO:0001587	stop_gained	5071				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:161969912C>A		CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"""Parkinson disease"""	8607	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase"""	602544	"""Parkinson disease (autosomal recessive, juvenile) 2, parkin"", ""parkinson protein 2, E3 ubiquitin protein ligase (parkin)"""			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.1057G>T	6.37:g.161969912C>A	ENSP00000355865:p.Glu353*					PARK2_uc003qtv.3_Intron|PARK2_uc010kkd.2_Nonsense_Mutation_p.E162*|PARK2_uc003qtw.3_Nonsense_Mutation_p.E162*|PARK2_uc003qty.3_Nonsense_Mutation_p.E325*|PARK2_uc003qtz.3_Nonsense_Mutation_p.E204*|PARK2_uc010kke.1_Nonsense_Mutation_p.E372*|PARK2_uc011egf.1_Nonsense_Mutation_p.E27*	p.E353*	NM_004562	NP_004553	O60260	PRKN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)	9	1191	-		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)	353			IBR-type.		A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Nonsense_Mutation	SNP	ENST00000366898.1	37	c.1057G>T	CCDS5281.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.722059	0.68959	.	.	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366896;ENST00000366894;ENST00000338468;ENST00000392134;ENST00000366892	.	.	.	5.72	5.72	0.89469	.	0.123965	0.53938	D	0.000049	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	18.0673	0.89395	0.0:1.0:0.0:0.0	.	.	.	.	X	353;325;204;162;162;162;353	.	ENSP00000343589:E162X	E	-	1	0	PARK2	161889902	0.982000	0.34865	0.027000	0.17364	0.005000	0.04900	2.689000	0.46993	2.689000	0.91719	0.650000	0.86243	GAA		0.622	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1			45	107	1	0	2.65591e-33	0.00361	4.7755e-33	45	107				
FGFR1OP	11116	broad.mit.edu	37	6	167416710	167416710	+	Silent	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:167416710G>C	ENST00000366847.4	+	3	417	c.186G>C	c.(184-186)ctG>ctC	p.L62L	FGFR1OP_ENST00000349556.4_Silent_p.L62L|FGFR1OP_ENST00000476078.1_3'UTR|RP11-517H2.6_ENST00000609590.1_RNA	NM_007045.2	NP_008976.1	O95684	FR1OP_HUMAN	FGFR1 oncogene partner	62					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|mitotic cell cycle (GO:0000278)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein tyrosine kinase activity (GO:0061099)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|protein tyrosine kinase inhibitor activity (GO:0030292)			large_intestine(2)|ovary(1)|stomach(1)	4		Breast(66;1.48e-05)|Ovarian(120;0.0607)		OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231)		ATGAGAGCCTGAAAAAGTTTT	0.284			T	FGFR1	"""MPD, NHL"""																																		uc003qvj.2		NA		Dom	yes		6	6q27	11116	T	FGFR1 oncogene partner (FOP)			L	FGFR1		MPD|NHL		0				ovary(1)	1						c.(184-186)CTG>CTC		FGFR1 oncogene partner isoform a							67.0	73.0	71.0					6																	167416710		2202	4289	6491	SO:0001819	synonymous_variant	11116				G2/M transition of mitotic cell cycle|microtubule anchoring|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation	centrosome|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity|protein kinase binding|protein tyrosine kinase inhibitor activity	g.chr6:167416710G>C	Y18046	CCDS5296.1, CCDS5297.1, CCDS75550.1	6q27	2008-02-05			ENSG00000213066	ENSG00000213066			17012	protein-coding gene	gene with protein product		605392				9949182, 10373756	Standard	NM_007045		Approved	FOP	uc003qvj.3	O95684	OTTHUMG00000016011	ENST00000366847.4:c.186G>C	6.37:g.167416710G>C						CCR6_uc003qvl.2_5'UTR|FGFR1OP_uc011egp.1_Silent_p.L62L|FGFR1OP_uc003qvk.2_Silent_p.L62L	p.L62L	NM_007045	NP_008976	O95684	FR1OP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231)	3	271	+		Breast(66;1.48e-05)|Ovarian(120;0.0607)	62					A8K1D1|B2R705|Q49AI0|Q5R3F6|Q96EW1	Silent	SNP	ENST00000366847.4	37	c.186G>C	CCDS5296.1																																																																																				0.284	FGFR1OP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043099.2	NM_007045		4	19	0	0	0	0.009096	0	4	19				
UNC93A	54346	broad.mit.edu	37	6	167721356	167721356	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:167721356C>A	ENST00000230256.3	+	7	1241	c.1066C>A	c.(1066-1068)Ctg>Atg	p.L356M	UNC93A_ENST00000366829.2_Missense_Mutation_p.L314M	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	356						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		ATTCTCTGGCCTGTGGGGCGT	0.632																																							uc003qvq.2		NA																	0					0						c.(1066-1068)CTG>ATG		unc-93 homolog A isoform 1							120.0	88.0	99.0					6																	167721356		2203	4300	6503	SO:0001583	missense	54346					integral to membrane|plasma membrane		g.chr6:167721356C>A	AJ508812	CCDS5300.1, CCDS47515.1	6q27	2014-05-16	2001-11-28		ENSG00000112494	ENSG00000112494			12570	protein-coding gene	gene with protein product		607995	"""unc93 (C.elegans) homolog A"""			12381271	Standard	NM_001143947		Approved	dJ366N23.2, dJ366N23.1	uc003qvq.3	Q86WB7	OTTHUMG00000016021	ENST00000230256.3:c.1066C>A	6.37:g.167721356C>A	ENSP00000230256:p.Leu356Met					UNC93A_uc003qvr.2_Missense_Mutation_p.L314M	p.L356M	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	7	1241	+		Breast(66;7.62e-05)|Ovarian(120;0.105)	356			Helical; (Potential).		B3KRP5|Q4QQJ4|Q5JZD6	Missense_Mutation	SNP	ENST00000230256.3	37	c.1066C>A	CCDS5300.1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.970326	0.34754	.	.	ENSG00000112494	ENST00000230256;ENST00000366829	T;D	0.84442	1.17;-1.85	4.56	4.56	0.56223	Major facilitator superfamily domain, general substrate transporter (1);	0.072136	0.56097	D	0.000025	D	0.82440	0.5037	M	0.78801	2.425	0.58432	D	0.999998	P;P	0.44260	0.638;0.83	B;P	0.45681	0.23;0.49	D	0.84171	0.0434	10	0.48119	T	0.1	-20.4559	11.2058	0.48769	0.1836:0.8164:0.0:0.0	.	314;356	Q4QQJ4;Q86WB7	.;UN93A_HUMAN	M	356;314	ENSP00000230256:L356M;ENSP00000355794:L314M	ENSP00000230256:L356M	L	+	1	2	UNC93A	167641346	1.000000	0.71417	0.847000	0.33407	0.020000	0.10135	2.185000	0.42584	2.081000	0.62600	0.563000	0.77884	CTG		0.632	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043125.2	NM_018974		7	48	1	0	2.7689e-08	0.001984	3.62443e-08	7	48				
TBP	6908	broad.mit.edu	37	6	170871116	170871116	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:170871116G>A	ENST00000392092.2	+	3	571	c.292G>A	c.(292-294)Gca>Aca	p.A98T	TBP_ENST00000540980.1_Missense_Mutation_p.A78T|TBP_ENST00000230354.6_Missense_Mutation_p.A98T	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	98					cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		acaggcagtggcagctgcagc	0.622																																							uc003qxt.2		NA																	0				ovary(1)	1						c.(292-294)GCA>ACA		TATA box binding protein							36.0	40.0	39.0					6																	170871116		2201	4295	6496	SO:0001583	missense	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871116G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.292G>A	6.37:g.170871116G>A	ENSP00000375942:p.Ala98Thr					TBP_uc003qxu.2_Missense_Mutation_p.A98T|TBP_uc011ehf.1_Missense_Mutation_p.A78T|TBP_uc011ehg.1_Missense_Mutation_p.A98T	p.A98T	NM_003194	NP_003185	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	524	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	98					B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Missense_Mutation	SNP	ENST00000392092.2	37	c.292G>A	CCDS5315.1	.	.	.	.	.	.	.	.	.	.	G	1.337	-0.595179	0.03771	.	.	ENSG00000112592	ENST00000421512;ENST00000392092;ENST00000540980;ENST00000230354;ENST00000392091;ENST00000423353	T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.92	0.571	-0.916	0.10489	.	.	.	.	.	T	0.10465	0.0256	N	0.19112	0.55	0.09310	N	1	B	0.18741	0.03	B	0.06405	0.002	T	0.31806	-0.9930	8	0.13108	T	0.6	-0.8617	.	.	.	.	98	P20226	TBP_HUMAN	T	98;98;78;98;75;98	ENSP00000400008:A98T;ENSP00000375942:A98T;ENSP00000442132:A78T;ENSP00000230354:A98T;ENSP00000416482:A98T	ENSP00000230354:A98T	A	+	1	0	TBP	170713041	.	.	0.003000	0.11579	0.033000	0.12548	.	.	-0.432000	0.07297	0.205000	0.17691	GCA		0.622	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		15	32	0	0	0	0.004007	0	15	32				
SDK1	221935	broad.mit.edu	37	7	4281481	4281481	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:4281481G>T	ENST00000404826.2	+	43	6326	c.6187G>T	c.(6187-6189)Gcc>Tcc	p.A2063S	SDK1_ENST00000389531.3_Missense_Mutation_p.A2043S|SDK1_ENST00000466611.1_3'UTR	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	2063					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGGATTTGCTGCCCTGGAGCT	0.587																																							uc003smx.2		NA																	0				large_intestine(3)|ovary(2)|skin(1)	6						c.(6187-6189)GCC>TCC		sidekick 1 precursor							93.0	77.0	83.0					7																	4281481		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4281481G>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.6187G>T	7.37:g.4281481G>T	ENSP00000385899:p.Ala2063Ser					SDK1_uc010kso.2_Missense_Mutation_p.A1319S|SDK1_uc003smy.2_Missense_Mutation_p.A550S|SDK1_uc003smz.2_Missense_Mutation_p.A123S	p.A2063S	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	43	6326	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	2063			Extracellular (Potential).|Cytoplasmic (Potential).		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.6187G>T	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.031576	0.54790	.	.	ENSG00000146555	ENST00000404826;ENST00000446104;ENST00000389531	T;T	0.66815	-0.2;-0.23	5.62	4.74	0.60224	.	0.000000	0.64402	D	0.000001	T	0.79476	0.4452	M	0.66378	2.025	0.49051	D	0.999746	D;D;D;D	0.89917	0.999;1.0;0.974;1.0	D;D;P;D	0.85130	0.976;0.997;0.829;0.996	T	0.81411	-0.0945	10	0.72032	D	0.01	.	13.278	0.60198	0.0738:0.0:0.9262:0.0	.	2043;123;550;2063	F8W6X9;Q7Z5N4-2;F2Z3E9;Q7Z5N4	.;.;.;SDK1_HUMAN	S	2063;311;2043	ENSP00000385899:A2063S;ENSP00000374182:A2043S	ENSP00000374182:A2043S	A	+	1	0	SDK1	4248007	1.000000	0.71417	0.407000	0.26434	0.992000	0.81027	5.274000	0.65569	1.364000	0.46038	0.650000	0.86243	GCC		0.587	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		8	27	1	0	1.76689e-08	0.006214	2.32305e-08	8	27				
RADIL	55698	broad.mit.edu	37	7	4841357	4841357	+	Silent	SNP	G	G	A	rs369296363	byFrequency	TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:4841357G>A	ENST00000399583.3	-	12	2956	c.2769C>T	c.(2767-2769)ggC>ggT	p.G923G	RADIL_ENST00000538469.1_Silent_p.G683G|RADIL_ENST00000536091.1_3'UTR	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	923	Pro-rich.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CACAGGGGCCGCCGGACTCTG	0.711													G|||	2	0.000399361	0.0015	0.0	5008	,	,		14081	0.0		0.0	False		,,,				2504	0.0						uc003snj.1		NA																	0				lung(2)|central_nervous_system(2)|pancreas(2)|breast(1)	7						c.(2767-2769)GGC>GGT		Rap GTPase interactor		G		2,3724		0,2,1861	8.0	10.0	10.0		2769	-3.9	0.0	7		10	0,8120		0,0,4060	no	coding-synonymous	RADIL	NM_018059.4		0,2,5921	AA,AG,GG		0.0,0.0537,0.0169		923/1076	4841357	2,11844	1863	4060	5923	SO:0001819	synonymous_variant	55698				cell adhesion|multicellular organismal development|signal transduction		protein binding	g.chr7:4841357G>A	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.2769C>T	7.37:g.4841357G>A						RADIL_uc003sng.1_RNA|RADIL_uc003sni.1_Silent_p.G428G|RADIL_uc011jwc.1_Silent_p.G683G|RADIL_uc011jwd.1_RNA|RADIL_uc003snh.1_Silent_p.G219G	p.G923G	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)	12	2942	-		Ovarian(82;0.0175)	923			Pro-rich.		A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Silent	SNP	ENST00000399583.3	37	c.2769C>T	CCDS43544.1																																																																																				0.711	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		3	4	0	0	0	0.004672	0	3	4				
PAPOLB	56903	broad.mit.edu	37	7	4899793	4899793	+	Missense_Mutation	SNP	C	C	A	rs201222213	byFrequency	TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:4899793C>A	ENST00000404991.1	-	1	1832	c.1646G>T	c.(1645-1647)aGc>aTc	p.S549I	RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	549					mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		CTGAGAACTGCTAATCAATGG	0.453																																							uc003snk.2		NA																	0				ovary(1)	1						c.(1648-1650)AGC>ATC		poly(A) polymerase beta (testis specific)							113.0	105.0	107.0					7																	4899793		1972	4183	6155	SO:0001583	missense	56903				mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr7:4899793C>A	AF218840		7p22.1	2008-02-08			ENSG00000218823	ENSG00000218823	2.7.7.19		15970	protein-coding gene	gene with protein product		607436				11150526	Standard	NM_020144		Approved	PAPT	uc003snk.3	Q9NRJ5	OTTHUMG00000151759	ENST00000404991.1:c.1646G>T	7.37:g.4899793C>A	ENSP00000384700:p.Ser549Ile					RADIL_uc003sng.1_Intron|RADIL_uc011jwd.1_Intron|RADIL_uc003snj.1_Intron	p.S550I	NM_020144	NP_064529	Q9NRJ5	PAPOB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)	1	1833	-		Ovarian(82;0.0175)	549					Q75LH1|Q8NE14	Missense_Mutation	SNP	ENST00000404991.1	37	c.1649G>T		.	.	.	.	.	.	.	.	.	.	C	5.668	0.307808	0.10733	.	.	ENSG00000218823	ENST00000404991	.	.	.	4.25	2.34	0.29019	.	.	.	.	.	T	0.23572	0.0570	N	0.08118	0	0.19575	N	0.999969	B	0.14438	0.01	B	0.10450	0.005	T	0.19582	-1.0301	8	0.40728	T	0.16	.	10.5823	0.45263	0.0:0.6213:0.3787:0.0	.	550	A4D1Z6	.	I	549	.	ENSP00000384700:S549I	S	-	2	0	PAPOLB	4866319	0.942000	0.31987	0.689000	0.30133	0.528000	0.34623	0.579000	0.23788	0.673000	0.31224	0.591000	0.81541	AGC		0.453	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000323797.1	NM_020144		16	77	1	0	2.4624e-09	0.008871	3.32569e-09	16	77				
USP42	84132	broad.mit.edu	37	7	6189538	6189538	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:6189538A>T	ENST00000306177.5	+	13	1869	c.1711A>T	c.(1711-1713)Acg>Tcg	p.T571S		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	571					cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		GAACGCATCTACGATGTCAGT	0.478																																							uc011jwo.1		NA																	0				skin(2)|ovary(1)|pancreas(1)|breast(1)	5						c.(1711-1713)ACG>TCG		ubiquitin specific peptidase 42							90.0	87.0	88.0					7																	6189538		1906	4128	6034	SO:0001583	missense	84132				cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr7:6189538A>T	AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"""Ubiquitin-specific peptidases"""	20068	protein-coding gene	gene with protein product			"""ubiquitin specific protease 42"""			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.1711A>T	7.37:g.6189538A>T	ENSP00000301962:p.Thr571Ser					USP42_uc010kth.1_Missense_Mutation_p.T504S|USP42_uc011jwp.1_Missense_Mutation_p.T571S|USP42_uc011jwq.1_Missense_Mutation_p.T378S|USP42_uc011jwr.1_Missense_Mutation_p.T416S	p.T571S	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)	13	1834	+		Ovarian(82;0.0423)	571					A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Missense_Mutation	SNP	ENST00000306177.5	37	c.1711A>T	CCDS47535.1	.	.	.	.	.	.	.	.	.	.	A	14.01	2.406344	0.42715	.	.	ENSG00000106346	ENST00000306177;ENST00000426246	T;T	0.16457	2.34;2.76	5.79	-6.05	0.02172	.	0.529195	0.19772	N	0.106402	T	0.09992	0.0245	L	0.48362	1.52	0.09310	N	1	B;B;B;B	0.19073	0.02;0.033;0.02;0.0	B;B;B;B	0.15870	0.01;0.014;0.006;0.001	T	0.33137	-0.9880	10	0.16420	T	0.52	.	7.4618	0.27300	0.3405:0.3988:0.2607:0.0	.	534;571;571;571	A4D2N7;Q9H9J4-2;Q9H9J4;A4D2N6	.;.;UBP42_HUMAN;.	S	571;417	ENSP00000301962:T571S;ENSP00000408217:T417S	ENSP00000301962:T571S	T	+	1	0	USP42	6156064	0.000000	0.05858	0.000000	0.03702	0.673000	0.39480	0.112000	0.15479	-1.418000	0.02014	0.482000	0.46254	ACG		0.478	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324262.3	XM_166526		6	31	0	0	0	0.001168	0	6	31				
DGKB	1607	broad.mit.edu	37	7	14378244	14378244	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:14378244C>A	ENST00000403951.2	-	23	2440	c.2021G>T	c.(2020-2022)tGg>tTg	p.W674L	DGKB_ENST00000399322.3_Missense_Mutation_p.W674L|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000402815.1_Missense_Mutation_p.W673L|DGKB_ENST00000258767.5_Missense_Mutation_p.W674L|DGKB_ENST00000407950.1_Missense_Mutation_p.W666L|DGKB_ENST00000406247.3_Missense_Mutation_p.W674L|DGKB_ENST00000444700.2_Missense_Mutation_p.W655L			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	674					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						AGACTCTCCCCAAAGATTGGA	0.413																																							uc003ssz.2		NA																	0				lung(5)|ovary(4)|breast(2)|skin(1)	12						c.(2020-2022)TGG>TTG		diacylglycerol kinase, beta isoform 1	Phosphatidylserine(DB00144)						145.0	132.0	136.0					7																	14378244		1847	4096	5943	SO:0001583	missense	1607				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	g.chr7:14378244C>A	AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.2021G>T	7.37:g.14378244C>A	ENSP00000385780:p.Trp674Leu					DGKB_uc011jxt.1_Missense_Mutation_p.W655L|DGKB_uc003sta.2_Missense_Mutation_p.W674L|DGKB_uc011jxu.1_Missense_Mutation_p.W673L	p.W674L	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN			22	2208	-			674					A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	ENST00000403951.2	37	c.2021G>T	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	C	30	5.052273	0.93793	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	T;T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78;0.78	5.5	5.5	0.81552	Diacylglycerol kinase, accessory domain (2);	0.000000	0.85682	D	0.000000	T	0.78935	0.4362	H	0.94385	3.53	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	D	0.84911	0.0848	10	0.87932	D	0	.	19.3986	0.94619	0.0:1.0:0.0:0.0	.	673;655;674;674	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	L	674;674;674;673;666;655;674	ENSP00000385780:W674L;ENSP00000382260:W674L;ENSP00000258767:W674L;ENSP00000384909:W673L;ENSP00000385031:W666L;ENSP00000388451:W655L;ENSP00000386066:W674L	ENSP00000258767:W674L	W	-	2	0	DGKB	14344769	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.570000	0.86706	0.650000	0.86243	TGG		0.413	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		14	38	1	0	1.52009e-12	0.003163	2.25137e-12	14	38				
AGMO	392636	broad.mit.edu	37	7	15599801	15599801	+	Silent	SNP	C	C	T	rs533177176		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:15599801C>T	ENST00000342526.3	-	2	391	c.222G>A	c.(220-222)acG>acA	p.T74T		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	74					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)	p.T74T(1)		breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						CTGAGATTGACGTTAAAGCAT	0.453													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16154	0.0		0.0	False		,,,				2504	0.0						uc003stb.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(220-222)ACG>ACA		transmembrane protein 195							130.0	118.0	122.0					7																	15599801		2203	4300	6503	SO:0001819	synonymous_variant	392636				ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	g.chr7:15599801C>T		CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"""Fatty acid hydroxylase domain containing"""	33784	protein-coding gene	gene with protein product		613738	"""transmembrane protein 195"""	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.222G>A	7.37:g.15599801C>T							p.T74T	NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN			2	392	-			74					A4D114|A6NCH5	Silent	SNP	ENST00000342526.3	37	c.222G>A	CCDS34604.1																																																																																				0.453	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2	NM_001004320		15	61	0	0	0	0.004007	0	15	61				
HDAC9	9734	broad.mit.edu	37	7	18801852	18801852	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:18801852G>T	ENST00000432645.2	+	14	2107	c.2107G>T	c.(2107-2109)Ggc>Tgc	p.G703C	HDAC9_ENST00000406451.4_Missense_Mutation_p.G703C|HDAC9_ENST00000441542.2_Missense_Mutation_p.G706C|HDAC9_ENST00000401921.1_Missense_Mutation_p.G662C	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	703	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	ACTGTTGTATGGCACCAACCC	0.502																																							uc003suh.2		NA																	0				lung(2)|central_nervous_system(2)|kidney(1)	5						c.(2107-2109)GGC>TGC		histone deacetylase 9 isoform 1	Valproic Acid(DB00313)						70.0	70.0	70.0					7																	18801852		1951	4152	6103	SO:0001583	missense	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18801852G>T	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.2107G>T	7.37:g.18801852G>T	ENSP00000410337:p.Gly703Cys					HDAC9_uc003sue.2_Missense_Mutation_p.G703C|HDAC9_uc011jyd.1_Missense_Mutation_p.G703C|HDAC9_uc003sui.2_Missense_Mutation_p.G706C|HDAC9_uc003suj.2_Missense_Mutation_p.G662C|HDAC9_uc003sua.1_Missense_Mutation_p.G681C	p.G703C	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN			14	2148	+	all_lung(11;0.187)		703			Histone deacetylase.		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	c.2107G>T	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.109763	0.77096	.	.	ENSG00000048052	ENST00000406451;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000341009	T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46	5.56	5.56	0.83823	Histone deacetylase domain (2);	0.000000	0.64402	D	0.000003	D	0.86264	0.5891	H	0.95151	3.63	0.80722	D	1	D;D;D;D;D;D	0.89917	0.99;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.79784	0.993;0.984;0.984;0.991;0.984;0.984	D	0.89354	0.3663	10	0.87932	D	0	-14.5631	13.1596	0.59537	0.0732:0.0:0.9268:0.0	.	703;662;706;703;703;681	Q9UKV0-4;Q9UKV0-6;Q9UKV0-7;Q9UKV0;Q9UKV0-5;Q8N879	.;.;.;HDAC9_HUMAN;.;.	C	703;662;703;706;615	ENSP00000384657:G703C;ENSP00000383912:G662C;ENSP00000410337:G703C;ENSP00000408617:G706C	ENSP00000339165:G615C	G	+	1	0	HDAC9	18768377	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.632000	0.74281	2.776000	0.95493	0.655000	0.94253	GGC		0.502	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			8	24	1	0	3.09899e-07	0.004482	3.88222e-07	8	24				
ABCB5	340273	broad.mit.edu	37	7	20698288	20698288	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:20698288G>C	ENST00000404938.2	+	14	2348	c.1696G>C	c.(1696-1698)Gca>Cca	p.A566P	ABCB5_ENST00000443026.2_Missense_Mutation_p.A121P|ABCB5_ENST00000258738.6_Missense_Mutation_p.A121P|ABCB5_ENST00000406935.1_Missense_Mutation_p.A121P	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	566	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TGTTCAAGCTGCACTGGAGAA	0.408																																							uc003suw.3		NA																	0				skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						c.(361-363)GCA>CCA		ATP-binding cassette, sub-family B, member 5							91.0	80.0	84.0					7																	20698288		2203	4300	6503	SO:0001583	missense	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20698288G>C	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.1696G>C	7.37:g.20698288G>C	ENSP00000384881:p.Ala566Pro					ABCB5_uc010kuh.2_Missense_Mutation_p.A566P|ABCB5_uc003suv.3_Missense_Mutation_p.A121P|ABCB5_uc011jyi.1_Missense_Mutation_p.A121P	p.A121P	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN			5	907	+			121			ABC transporter 1.|Extracellular (Potential).		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	c.361G>C	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	G	19.35	3.810220	0.70797	.	.	ENSG00000004846	ENST00000404938;ENST00000443026;ENST00000406935;ENST00000258738	D;D;D;D	0.91521	-1.73;-2.86;-2.86;-1.73	5.58	3.66	0.41972	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.56097	D	0.000022	D	0.95360	0.8494	M	0.89904	3.07	0.52501	D	0.999959	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;1.0	D	0.95341	0.8438	10	0.87932	D	0	.	9.9244	0.41483	0.0726:0.0:0.79:0.1374	.	121;566;121;121	B5MD19;A7BKA4;Q2M3G0;Q2M3G0-2	.;.;ABCB5_HUMAN;.	P	566;121;121;121	ENSP00000384881:A566P;ENSP00000406730:A121P;ENSP00000383899:A121P;ENSP00000258738:A121P	ENSP00000258738:A121P	A	+	1	0	ABCB5	20664813	1.000000	0.71417	1.000000	0.80357	0.531000	0.34715	6.541000	0.73865	1.500000	0.48636	0.650000	0.86243	GCA		0.408	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		10	27	0	0	0	0.001855	0	10	27				
SNX10	29887	broad.mit.edu	37	7	26400640	26400640	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:26400640G>T	ENST00000338523.4	+	3	257	c.70G>T	c.(70-72)Gac>Tac	p.D24Y	SNX10_ENST00000446848.2_Missense_Mutation_p.D50Y|SNX10_ENST00000409367.1_5'UTR|SNX10_ENST00000396376.1_Missense_Mutation_p.D24Y	NM_001199835.1|NM_013322.2	NP_001186764.1|NP_037454.2	Q9Y5X0	SNX10_HUMAN	sorting nexin 10	24	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.|Required for the interaction with ATP6V1D.				cilium assembly (GO:0042384)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|osteoclast differentiation (GO:0030316)|protein localization to centrosome (GO:0071539)|protein localization to cilium (GO:0061512)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extrinsic component of endosome membrane (GO:0031313)|nucleus (GO:0005634)	1-phosphatidylinositol binding (GO:0005545)|ATPase binding (GO:0051117)			endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	6						TCAGAAGGAGGACTTCTGGCA	0.353																																							uc003sxx.2		NA																	0					0						c.(70-72)GAC>TAC		sorting nexin 10							158.0	148.0	151.0					7																	26400640		2203	4300	6503	SO:0001583	missense	29887				cell communication|endosome organization|protein transport	extrinsic to endosome membrane	1-phosphatidylinositol binding	g.chr7:26400640G>T	AF121860	CCDS5399.1, CCDS56470.1	7p15.2	2008-05-22			ENSG00000086300	ENSG00000086300		"""Sorting nexins"""	14974	protein-coding gene	gene with protein product		614780				17012226	Standard	NM_013322		Approved		uc010kuu.3	Q9Y5X0	OTTHUMG00000023650	ENST00000338523.4:c.70G>T	7.37:g.26400640G>T	ENSP00000343709:p.Asp24Tyr					SNX10_uc011jzg.1_Missense_Mutation_p.D47Y|SNX10_uc010kuu.2_Missense_Mutation_p.D24Y|SNX10_uc010kuv.2_Missense_Mutation_p.D20Y	p.D24Y	NM_013322	NP_037454	Q9Y5X0	SNX10_HUMAN			3	285	+			24			PX.		E9PFH5|Q8IYT5	Missense_Mutation	SNP	ENST00000338523.4	37	c.70G>T	CCDS5399.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.451133	0.84209	.	.	ENSG00000086300	ENST00000416246;ENST00000338523;ENST00000412416;ENST00000446848;ENST00000396376	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	4.93	4.93	0.64822	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	T	0.70343	0.3213	M	0.86953	2.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.75926	-0.3145	10	0.59425	D	0.04	.	18.5263	0.90974	0.0:0.0:1.0:0.0	.	50;24	B4DJM0;Q9Y5X0	.;SNX10_HUMAN	Y	50;24;50;50;24	ENSP00000408164:D50Y;ENSP00000343709:D24Y;ENSP00000395474:D50Y;ENSP00000379661:D24Y	ENSP00000343709:D24Y	D	+	1	0	SNX10	26367165	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.829000	0.92055	2.455000	0.83008	0.650000	0.86243	GAC		0.353	SNX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214120.1			23	57	1	0	2.41591e-17	0.004656	3.89638e-17	23	57				
HOXA13	3209	broad.mit.edu	37	7	27237955	27237955	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:27237955C>A	ENST00000222753.4	-	2	1057	c.1029G>T	c.(1027-1029)acG>acT	p.T343T	HOTTIP_ENST00000605136.1_RNA|HOTTIP_ENST00000472494.1_RNA|HOTTIP_ENST00000521028.2_RNA|HOXA13_ENST00000518136.3_5'Flank|HOTTIP_ENST00000421733.1_RNA	NM_000522.4	NP_000513.2	P31271	HXA13_HUMAN	homeobox A13	343					artery morphogenesis (GO:0048844)|branching involved in prostate gland morphogenesis (GO:0060442)|embryonic forelimb morphogenesis (GO:0035115)|endothelial cell fate specification (GO:0060847)|endothelial cell morphogenesis (GO:0001886)|inner ear development (GO:0048839)|male genitalia development (GO:0030539)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of BMP signaling pathway (GO:0030510)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|ventricular septum development (GO:0003281)	intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	6						TGAATTTATTCGTGGCGTATT	0.498			T	NUP98	AML						OREG0003748	type=REGULATORY REGION|Gene=HOXA13|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																											uc003szb.1		NA		Dom	yes		7	7p15-p14.2	3209	T	homeo box A13			L	NUP98		AML		0				breast(1)	1						c.(1027-1029)ACG>ACT		homeobox A13							207.0	208.0	208.0					7																	27237955		2203	4300	6503	SO:0001819	synonymous_variant	3209				skeletal system development	nucleus	sequence-specific DNA binding	g.chr7:27237955C>A		CCDS5412.1	7p15.2	2011-06-20	2005-12-22		ENSG00000106031	ENSG00000106031		"""Homeoboxes / ANTP class : HOXL subclass"""	5102	protein-coding gene	gene with protein product		142959	"""homeo box A13"""	HOX1J, HOX1		1973146, 1358459	Standard	NM_000522		Approved		uc003szb.1	P31271	OTTHUMG00000023438	ENST00000222753.4:c.1029G>T	7.37:g.27237955C>A			OREG0003748	type=REGULATORY REGION|Gene=HOXA13|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	792	uc003szc.1_5'Flank	p.T343T	NM_000522	NP_000513	P31271	HXA13_HUMAN			2	1058	-			343			Homeobox.		A4D188|O43371	Silent	SNP	ENST00000222753.4	37	c.1029G>T	CCDS5412.1																																																																																				0.498	HOXA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358752.3			42	108	1	0	2.52991e-16	0.00361	4.0192e-16	42	108				
CREB5	9586	broad.mit.edu	37	7	28610146	28610146	+	Missense_Mutation	SNP	G	G	T	rs114450022		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:28610146G>T	ENST00000357727.2	+	5	845	c.455G>T	c.(454-456)cGc>cTc	p.R152L	CREB5_ENST00000396299.2_Missense_Mutation_p.R119L|CREB5_ENST00000396300.2_Missense_Mutation_p.R145L|CREB5_ENST00000409603.1_Missense_Mutation_p.R119L	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	152					adipose tissue development (GO:0060612)|fat cell differentiation (GO:0045444)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						TCCACCAACCGCCAGATCGGG	0.587																																							uc003szq.2		NA																	0				skin(2)	2						c.(454-456)CGC>CTC		cAMP responsive element binding protein 5							90.0	79.0	82.0					7																	28610146		2203	4300	6503	SO:0001583	missense	9586				positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:28610146G>T	L05515	CCDS5417.1, CCDS5418.1, CCDS43562.1, CCDS43563.1	7p15	2013-01-10			ENSG00000146592	ENSG00000146592		"""basic leucine zipper proteins"""	16844	protein-coding gene	gene with protein product	"""cAMP response element binding protein CRE-Bpa"""					8378084, 8440710	Standard	XM_005249906		Approved	H_GS165L15.1, CRE-BPA	uc003szr.3	Q02930	OTTHUMG00000097081	ENST00000357727.2:c.455G>T	7.37:g.28610146G>T	ENSP00000350359:p.Arg152Leu					CREB5_uc003szo.2_Missense_Mutation_p.R119L|CREB5_uc003szr.2_Missense_Mutation_p.R145L	p.R152L	NM_182898	NP_878901	Q02930	CREB5_HUMAN			5	845	+			152					A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9	Missense_Mutation	SNP	ENST00000357727.2	37	c.455G>T	CCDS5417.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047666	0.75846	.	.	ENSG00000146592	ENST00000396299;ENST00000357727;ENST00000396300;ENST00000409603	T;T;T;T	0.67523	-0.27;-0.27;-0.25;-0.27	5.45	5.45	0.79879	.	0.048891	0.85682	D	0.000000	T	0.82171	0.4979	M	0.76574	2.34	0.80722	D	1	D	0.63880	0.993	D	0.71184	0.972	D	0.83716	0.0190	10	0.72032	D	0.01	-22.7185	19.2936	0.94112	0.0:0.0:1.0:0.0	.	152	Q02930	CREB5_HUMAN	L	119;152;145;119	ENSP00000379593:R119L;ENSP00000350359:R152L;ENSP00000379594:R145L;ENSP00000387197:R119L	ENSP00000350359:R152L	R	+	2	0	CREB5	28576671	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.110000	0.94302	2.583000	0.87209	0.650000	0.86243	CGC		0.587	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214204.4	NM_004904		11	52	1	0	7.03913e-09	0.001368	9.3457e-09	11	52				
AVL9	23080	broad.mit.edu	37	7	32598191	32598191	+	Silent	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:32598191A>T	ENST00000318709.4	+	9	851	c.630A>T	c.(628-630)ccA>ccT	p.P210P	AVL9_ENST00000409301.1_Silent_p.P210P|AVL9_ENST00000404479.1_Silent_p.P210P	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	210					cell migration (GO:0016477)	integral component of membrane (GO:0016021)|recycling endosome (GO:0055037)				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						ATATTTCTCCAGTGAATAAAT	0.348																																							uc003tcv.1		NA																	0					0						c.(628-630)CCA>CCT		AVL9 homolog (S. cerevisiase)							108.0	107.0	107.0					7																	32598191		2203	4300	6503	SO:0001819	synonymous_variant	23080					integral to membrane		g.chr7:32598191A>T	D87682	CCDS34613.1	7p14.3	2013-05-01	2008-10-03	2008-10-03	ENSG00000105778	ENSG00000105778			28994	protein-coding gene	gene with protein product		612927	"""KIAA0241"""	KIAA0241		17229886, 22595670	Standard	XM_005249668		Approved		uc003tcv.1	Q8NBF6	OTTHUMG00000152929	ENST00000318709.4:c.630A>T	7.37:g.32598191A>T						AVL9_uc011kai.1_Silent_p.P210P|AVL9_uc010kwj.1_Silent_p.P51P	p.P210P	NM_015060	NP_055875	Q8NBF6	AVL9_HUMAN			9	776	+			210					Q92573	Silent	SNP	ENST00000318709.4	37	c.630A>T	CCDS34613.1																																																																																				0.348	AVL9-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328643.1	NM_015060		9	32	0	0	0	0.008291	0	9	32				
RP9	6100	broad.mit.edu	37	7	33136953	33136953	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:33136953C>A	ENST00000297157.3	-	4	352	c.335G>T	c.(334-336)gGt>gTt	p.G112V		NM_203288.1	NP_976033.1	Q8TA86	RP9_HUMAN	retinitis pigmentosa 9 (autosomal dominant)	112	PIM1-binding. {ECO:0000250}.				cognition (GO:0050890)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|signal recognition particle receptor complex (GO:0005785)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|urinary_tract(1)	7			GBM - Glioblastoma multiforme(11;0.0403)			CGTTCGGTGACCATAGCGTTT	0.373																																							uc003tdm.2		NA																	0					0						c.(334-336)GGT>GTT		retinitis pigmentosa 9							98.0	92.0	94.0					7																	33136953		2203	4300	6503	SO:0001583	missense	6100				RNA splicing	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr7:33136953C>A	AX016710	CCDS5440.1	7p14.3	2014-01-28			ENSG00000164610	ENSG00000164610			10288	protein-coding gene	gene with protein product	"""Pim-1 kinase associated protein"""	607331				8513323	Standard	NM_203288		Approved	PAP-1	uc003tdm.3	Q8TA86	OTTHUMG00000152988	ENST00000297157.3:c.335G>T	7.37:g.33136953C>A	ENSP00000297157:p.Gly112Val						p.G112V	NM_203288	NP_976033	Q8TA86	RP9_HUMAN	GBM - Glioblastoma multiforme(11;0.0403)		4	353	-			112			PIM1-binding (By similarity).|CCHC-type.			Missense_Mutation	SNP	ENST00000297157.3	37	c.335G>T	CCDS5440.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.194560	0.78902	.	.	ENSG00000164610	ENST00000297157;ENST00000448915	D;D	0.96522	-4.04;-4.04	3.77	3.77	0.43336	Zinc finger, CCHC-type (1);	0.000000	0.85682	D	0.000000	D	0.97864	0.9298	M	0.78344	2.41	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98914	1.0781	10	0.87932	D	0	-48.6905	16.449	0.83973	0.0:1.0:0.0:0.0	.	112	Q8TA86	RP9_HUMAN	V	112;78	ENSP00000297157:G112V;ENSP00000411577:G78V	ENSP00000297157:G112V	G	-	2	0	RP9	33103478	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	7.032000	0.76498	2.028000	0.59812	0.400000	0.26472	GGT		0.373	RP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328914.1	NM_203288		17	36	1	0	3.41278e-10	0.00499	4.72955e-10	17	36				
POU6F2	11281	broad.mit.edu	37	7	39379522	39379522	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:39379522C>A	ENST00000403058.1	+	6	947	c.793C>A	c.(793-795)Cca>Aca	p.P265T	POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000559001.1_Missense_Mutation_p.P257T|POU6F2_ENST00000518318.2_Missense_Mutation_p.P265T	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	265	Gln-rich.|Pro-rich.				central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						ccaaccatctccaacccagca	0.617																																							uc003thb.1		NA																	0				central_nervous_system(1)	1						c.(793-795)CCA>ACA		POU class 6 homeobox 2 isoform 1							121.0	134.0	129.0					7																	39379522		2203	4300	6503	SO:0001583	missense	11281				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:39379522C>A	U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"""Homeoboxes / POU class"""	21694	protein-coding gene	gene with protein product	"""Retina-derived POU-domain factor-1"""	609062	"""POU domain, class 6, transcription factor 2"""			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.793C>A	7.37:g.39379522C>A	ENSP00000384004:p.Pro265Thr					POU6F2_uc010kxo.2_Missense_Mutation_p.P257T	p.P265T	NM_007252	NP_009183	P78424	PO6F2_HUMAN			5	835	+			265			Pro-rich.|Gln-rich.		A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Missense_Mutation	SNP	ENST00000403058.1	37	c.793C>A	CCDS34620.2	.	.	.	.	.	.	.	.	.	.	C	9.355	1.066489	0.20067	.	.	ENSG00000106536	ENST00000403058;ENST00000518318	T;D	0.84730	1.04;-1.89	4.66	4.66	0.58398	.	43.522100	0.00520	U	0.000183	T	0.79695	0.4490	N	0.14661	0.345	0.27684	N	0.946342	P;B	0.40180	0.705;0.099	B;B	0.44044	0.439;0.025	T	0.69491	-0.5131	10	0.17832	T	0.49	.	9.5924	0.39554	0.0:0.8346:0.0:0.1654	.	265;265	P78424-2;P78424	.;PO6F2_HUMAN	T	265	ENSP00000384004:P265T;ENSP00000430514:P265T	ENSP00000384004:P265T	P	+	1	0	POU6F2	39346047	0.994000	0.37717	0.992000	0.48379	0.970000	0.65996	2.660000	0.46749	2.129000	0.65627	0.557000	0.71058	CCA		0.617	POU6F2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320146.3	NM_007252		17	40	1	0	1.99824e-07	0.00499	2.51812e-07	17	40				
INHBA	3624	broad.mit.edu	37	7	41729792	41729792	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:41729792T>A	ENST00000242208.4	-	3	983	c.737A>T	c.(736-738)cAg>cTg	p.Q246L	AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.Q246L|INHBA_ENST00000464515.1_5'UTR	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	246					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CTCCTGGCACTGCTCACAGGC	0.597										TSP Lung(11;0.080)																													uc003thq.2		NA																	0				lung(5)|ovary(1)	6						c.(736-738)CAG>CTG		inhibin beta A precursor							43.0	43.0	43.0					7																	41729792		2203	4300	6503	SO:0001583	missense	3624				cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	g.chr7:41729792T>A		CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"""Endogenous ligands"""	6066	protein-coding gene	gene with protein product		147290	"""inhibin, beta A (activin A, activin AB alpha polypeptide)"""			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.737A>T	7.37:g.41729792T>A	ENSP00000242208:p.Gln246Leu	TSP Lung(11;0.080)				INHBA_uc003thr.2_Missense_Mutation_p.Q246L	p.Q246L	NM_002192	NP_002183	P08476	INHBA_HUMAN			2	972	-			246					Q14599	Missense_Mutation	SNP	ENST00000242208.4	37	c.737A>T	CCDS5464.1	.	.	.	.	.	.	.	.	.	.	.	13.92	2.380861	0.42207	.	.	ENSG00000122641	ENST00000242208;ENST00000442711	T;T	0.65178	-0.14;-0.14	6.06	6.06	0.98353	Transforming growth factor-beta, N-terminal (1);	0.469634	0.26143	N	0.026090	T	0.38983	0.1061	N	0.04203	-0.255	0.39184	D	0.962833	B	0.02656	0.0	B	0.06405	0.002	T	0.37526	-0.9702	10	0.23891	T	0.37	-27.1125	12.2759	0.54735	0.1339:0.0:0.0:0.8661	.	246	P08476	INHBA_HUMAN	L	246	ENSP00000242208:Q246L;ENSP00000397197:Q246L	ENSP00000242208:Q246L	Q	-	2	0	INHBA	41696317	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.912000	0.48782	2.324000	0.78689	0.533000	0.62120	CAG		0.597	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250793.1			8	27	0	0	0	0.008291	0	8	27				
GLI3	2737	broad.mit.edu	37	7	42005524	42005524	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:42005524G>C	ENST00000395925.3	-	15	3231	c.3147C>G	c.(3145-3147)taC>taG	p.Y1049*	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1049					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CGGGCCGCGTGTAATTCTGAA	0.667									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																														uc011kbh.1		NA																	0				lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						c.(3145-3147)TAC>TAG		GLI-Kruppel family member GLI3							43.0	48.0	46.0					7																	42005524		2203	4300	6503	SO:0001587	stop_gained	2737	Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42005524G>C		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3147C>G	7.37:g.42005524G>C	ENSP00000379258:p.Tyr1049*					GLI3_uc011kbg.1_Nonsense_Mutation_p.Y990*	p.Y1049*	NM_000168	NP_000159	P10071	GLI3_HUMAN			15	3238	-			1049					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Nonsense_Mutation	SNP	ENST00000395925.3	37	c.3147C>G	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	G	38	7.137778	0.98088	.	.	ENSG00000106571	ENST00000395925	.	.	.	5.34	2.24	0.28232	.	0.291064	0.39834	N	0.001252	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.0366	0.36291	0.3982:0.0:0.6018:0.0	.	.	.	.	X	1049	.	ENSP00000379258:Y1049X	Y	-	3	2	GLI3	41972049	0.997000	0.39634	0.911000	0.35937	0.575000	0.36095	0.462000	0.21956	0.144000	0.18951	0.462000	0.41574	TAC		0.667	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		6	33	0	0	0	0.001984	0	6	33				
HECW1	23072	broad.mit.edu	37	7	43477686	43477686	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:43477686C>A	ENST00000395891.2	+	9	1491	c.886C>A	c.(886-888)Cgc>Agc	p.R296S	HECW1_ENST00000453890.1_Missense_Mutation_p.R296S|HECW1_ENST00000471043.1_3'UTR	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	296	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CATCATCAAGCGCTTCTTGGG	0.493																																							uc003tid.1		NA																	0				ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.(886-888)CGC>AGC		NEDD4-like ubiquitin-protein ligase 1							93.0	98.0	96.0					7																	43477686		2035	4225	6260	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43477686C>A	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.886C>A	7.37:g.43477686C>A	ENSP00000379228:p.Arg296Ser					HECW1_uc011kbi.1_Missense_Mutation_p.R296S|HECW1_uc003tie.1_Missense_Mutation_p.R328S	p.R296S	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			9	1491	+			296			C2.		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.886C>A	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	C	36	5.774828	0.96922	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.68479	-0.33;-0.33	6.17	6.17	0.99709	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.047531	0.85682	D	0.000000	D	0.83271	0.5218	M	0.75447	2.3	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.997;0.999	T	0.83111	-0.0123	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	296;328;296	B4DH42;B3KR18;Q76N89	.;.;HECW1_HUMAN	S	296;296;295	ENSP00000379228:R296S;ENSP00000407774:R296S	ENSP00000265522:R295S	R	+	1	0	HECW1	43444211	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.050000	0.71063	2.941000	0.99782	0.655000	0.94253	CGC		0.493	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		11	38	1	0	5.50884e-06	0.001368	6.54807e-06	11	38				
HECW1	23072	broad.mit.edu	37	7	43484345	43484345	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:43484345G>T	ENST00000395891.2	+	11	2179	c.1574G>T	c.(1573-1575)cGg>cTg	p.R525L	HECW1_ENST00000453890.1_Missense_Mutation_p.R525L	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	525					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CTGCAGCTGCGGGCCTCGGTG	0.657																																							uc003tid.1		NA																	0				ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.(1573-1575)CGG>CTG		NEDD4-like ubiquitin-protein ligase 1							25.0	34.0	31.0					7																	43484345		2131	4231	6362	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43484345G>T	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1574G>T	7.37:g.43484345G>T	ENSP00000379228:p.Arg525Leu					HECW1_uc011kbi.1_Missense_Mutation_p.R525L	p.R525L	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			11	2179	+			525					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.1574G>T	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	G	8.771	0.926042	0.18056	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.35605	1.38;1.3	5.32	4.43	0.53597	.	7.416330	0.00166	N	0.000001	T	0.45696	0.1355	L	0.58101	1.795	0.19575	N	0.999964	B;B	0.28082	0.2;0.2	B;B	0.28465	0.09;0.09	T	0.51733	-0.8668	10	0.44086	T	0.13	.	15.9953	0.80234	0.0:0.135:0.865:0.0	.	525;525	B4DH42;Q76N89	.;HECW1_HUMAN	L	525	ENSP00000379228:R525L;ENSP00000407774:R525L	ENSP00000265522:R525L	R	+	2	0	HECW1	43450870	0.488000	0.25996	0.717000	0.30585	0.181000	0.23173	2.952000	0.49097	1.220000	0.43490	0.655000	0.94253	CGG		0.657	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		4	8	1	0	0.00024832	0.009096	0.000277424	4	8				
MRPS24	64951	broad.mit.edu	37	7	43906464	43906464	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:43906464C>A	ENST00000317534.5	-	4	399	c.338G>T	c.(337-339)cGg>cTg	p.R113L	URGCP-MRPS24_ENST00000603700.1_3'UTR|MRPS24_ENST00000467084.1_5'UTR	NM_032014.2	NP_114403.1	Q96EL2	RT24_HUMAN	mitochondrial ribosomal protein S24	113					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrial small ribosomal subunit (GO:0005763)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5						CTGGTTACCCCGGCGCTTTAA	0.547																																							uc003tit.1		NA																	0					0						c.(337-339)CGG>CTG		mitochondrial ribosomal protein S24 precursor							68.0	63.0	65.0					7																	43906464		2203	4300	6503	SO:0001583	missense	64951				translation	mitochondrial large ribosomal subunit|mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr7:43906464C>A	AB061207	CCDS5473.1	7p14	2012-09-13			ENSG00000062582	ENSG00000062582		"""Mitochondrial ribosomal proteins / small subunits"""	14510	protein-coding gene	gene with protein product		611986				8127713, 11279123	Standard	NM_032014		Approved	MRP-S24, HSPC335	uc003tit.1	Q96EL2	OTTHUMG00000023175	ENST00000317534.5:c.338G>T	7.37:g.43906464C>A	ENSP00000318158:p.Arg113Leu						p.R113L	NM_032014	NP_114403	Q96EL2	RT24_HUMAN			4	389	-			113					A4D1U9|P82668|Q96Q23|Q9P047	Missense_Mutation	SNP	ENST00000317534.5	37	c.338G>T	CCDS5473.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.514616	0.64634	.	.	ENSG00000062582	ENST00000317534	T	0.50548	0.74	5.0	4.12	0.48240	.	0.000000	0.85682	D	0.000000	T	0.59280	0.2182	M	0.83603	2.65	0.80722	D	1	P	0.44044	0.825	P	0.48873	0.593	T	0.64193	-0.6465	10	0.62326	D	0.03	.	11.1372	0.48381	0.0:0.9091:0.0:0.0909	.	113	Q96EL2	RT24_HUMAN	L	113	ENSP00000318158:R113L	ENSP00000318158:R113L	R	-	2	0	MRPS24	43872989	1.000000	0.71417	0.997000	0.53966	0.342000	0.28953	5.411000	0.66386	1.110000	0.41699	-0.136000	0.14681	CGG		0.547	MRPS24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250949.1	NM_032014		7	59	1	0	0.00307968	0.00308	0.00328514	7	59				
URGCP	55665	broad.mit.edu	37	7	43917515	43917515	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:43917515C>G	ENST00000453200.1	-	6	2040	c.1547G>C	c.(1546-1548)tGg>tCg	p.W516S	URGCP_ENST00000443736.1_Missense_Mutation_p.W473S|URGCP_ENST00000447717.3_Missense_Mutation_p.W473S|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000402306.3_Missense_Mutation_p.W507S|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000336086.6_Missense_Mutation_p.W473S|URGCP_ENST00000223341.7_Missense_Mutation_p.W473S			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	516				W -> R (in Ref. 3; CAE45880). {ECO:0000305}.	cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTCCACGGCCCACTGGAGCTG	0.627																																							uc003tiw.2		NA																	0				ovary(2)|liver(1)|skin(1)	4						c.(1546-1548)TGG>TCG		up-regulated gene 4 isoform 3							62.0	65.0	64.0					7																	43917515		1978	4161	6139	SO:0001583	missense	55665				cell cycle	centrosome|nucleus	GTP binding	g.chr7:43917515C>G		CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"""up-regulated gene 4"""	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.1547G>C	7.37:g.43917515C>G	ENSP00000396918:p.Trp516Ser					URGCP_uc003tiu.2_Missense_Mutation_p.W473S|URGCP_uc003tiv.2_Missense_Mutation_p.W441S|URGCP_uc003tix.2_Missense_Mutation_p.W507S|URGCP_uc003tiy.2_Missense_Mutation_p.W473S|URGCP_uc003tiz.2_Missense_Mutation_p.W473S|URGCP_uc011kbj.1_Missense_Mutation_p.W473S	p.W516S	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN			6	1604	-			516	W -> R (in Ref. 3; CAE45880).				E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Missense_Mutation	SNP	ENST00000453200.1	37	c.1547G>C	CCDS47578.1	.	.	.	.	.	.	.	.	.	.	C	8.668	0.902043	0.17760	.	.	ENSG00000106608	ENST00000223341;ENST00000336086;ENST00000402306;ENST00000443736;ENST00000453200;ENST00000447717	T;T;T;T;T;T	0.08634	3.07;3.07;3.07;3.07;3.07;3.07	5.79	5.79	0.91817	.	0.462711	0.22055	N	0.065254	T	0.10508	0.0257	L	0.54323	1.7	0.52501	D	0.999952	B;B	0.13145	0.007;0.007	B;B	0.09377	0.004;0.004	T	0.16512	-1.0400	10	0.09843	T	0.71	-13.2566	17.5201	0.87784	0.0:1.0:0.0:0.0	.	507;516	Q8TCY9-2;Q8TCY9	.;URGCP_HUMAN	S	473;473;507;473;516;473	ENSP00000223341:W473S;ENSP00000336872:W473S;ENSP00000384955:W507S;ENSP00000392136:W473S;ENSP00000396918:W516S;ENSP00000402803:W473S	ENSP00000223341:W473S	W	-	2	0	URGCP	43884040	0.011000	0.17503	1.000000	0.80357	0.822000	0.46500	1.224000	0.32539	2.735000	0.93741	0.655000	0.94253	TGG		0.627	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664		15	38	0	0	0	0.00499	0	15	38				
MYO1G	64005	broad.mit.edu	37	7	45007525	45007525	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:45007525C>G	ENST00000258787.7	-	13	1743	c.1607G>C	c.(1606-1608)aGa>aCa	p.R536T		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	536	Myosin motor.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						GAGGAAATCTCTGTTCTTGTC	0.622																																							uc003tmh.2		NA																	0				breast(2)|ovary(1)|pancreas(1)	4						c.(1606-1608)AGA>ACA		myosin IG							67.0	61.0	63.0					7																	45007525		2203	4300	6503	SO:0001583	missense	64005					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr7:45007525C>G	AF380932	CCDS34629.1	7p13-p11.2	2011-09-27			ENSG00000136286	ENSG00000136286		"""Myosins / Myosin superfamily : Class I"""	13880	protein-coding gene	gene with protein product	"""minor histocompatibility antigen HA-2"""	600642					Standard	NM_033054		Approved	HA-2	uc003tmh.2	B0I1T2	OTTHUMG00000155821	ENST00000258787.7:c.1607G>C	7.37:g.45007525C>G	ENSP00000258787:p.Arg536Thr					MYO1G_uc003tmf.2_5'UTR|MYO1G_uc003tmg.2_Missense_Mutation_p.R298T|MYO1G_uc010kym.2_Missense_Mutation_p.R421T|MYO1G_uc003tmi.1_Missense_Mutation_p.R448T	p.R536T	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN			13	1751	-			536			Myosin head-like.		Q8TEI9|Q8TES2|Q96BE2|Q96RI5|Q96RI6	Missense_Mutation	SNP	ENST00000258787.7	37	c.1607G>C	CCDS34629.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.340928	0.60963	.	.	ENSG00000136286	ENST00000258787	D	0.87650	-2.28	5.36	4.26	0.50523	Myosin head, motor domain (2);	0.000000	0.42682	D	0.000667	T	0.79992	0.4542	L	0.45422	1.42	0.39952	D	0.974555	B;B	0.13145	0.007;0.005	B;B	0.18871	0.012;0.023	T	0.77270	-0.2650	10	0.87932	D	0	.	4.8388	0.13478	0.0:0.7281:0.0:0.2719	.	536;536	B0I1T2-4;B0I1T2	.;MYO1G_HUMAN	T	536	ENSP00000258787:R536T	ENSP00000258787:R536T	R	-	2	0	MYO1G	44974050	1.000000	0.71417	0.660000	0.29694	0.960000	0.62799	3.975000	0.56859	2.669000	0.90835	0.561000	0.74099	AGA		0.622	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341832.2			10	24	0	0	0	0.001368	0	10	24				
SEPT14	346288	broad.mit.edu	37	7	55874857	55874857	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:55874857G>T	ENST00000388975.3	-	8	1028	c.912C>A	c.(910-912)caC>caA	p.H304Q		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	304	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AACATTCATAGTGCTGAGTGT	0.378																																							uc003tqz.2		NA																	0					0						c.(910-912)CAC>CAA		septin 14							116.0	108.0	111.0					7																	55874857		2203	4298	6501	SO:0001583	missense	346288				cell cycle|cell division	septin complex	GTP binding|protein binding	g.chr7:55874857G>T	AK126048	CCDS5519.2	7p11.2	2013-01-21			ENSG00000154997	ENSG00000154997		"""Septins"""	33280	protein-coding gene	gene with protein product		612140					Standard	NM_207366		Approved	FLJ44060	uc003tqz.2	Q6ZU15	OTTHUMG00000129341	ENST00000388975.3:c.912C>A	7.37:g.55874857G>T	ENSP00000373627:p.His304Gln						p.H304Q	NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		8	1029	-	Breast(14;0.214)		304					A6NCC2|B4DXD6	Missense_Mutation	SNP	ENST00000388975.3	37	c.912C>A	CCDS5519.2	.	.	.	.	.	.	.	.	.	.	G	15.41	2.824353	0.50739	.	.	ENSG00000154997	ENST00000388975	D	0.82344	-1.6	3.24	3.24	0.37175	.	0.000000	0.64402	D	0.000001	D	0.91670	0.7367	H	0.94503	3.545	0.37171	D	0.903053	D	0.89917	1.0	D	0.97110	1.0	D	0.92434	0.5956	10	0.72032	D	0.01	.	6.4783	0.22049	0.1303:0.0:0.8696:0.0	.	304	Q6ZU15	SEP14_HUMAN	Q	304	ENSP00000373627:H304Q	ENSP00000373627:H304Q	H	-	3	2	SEPT14	55842351	0.998000	0.40836	0.999000	0.59377	0.830000	0.47004	0.385000	0.20685	2.116000	0.64780	0.557000	0.71058	CAC		0.378	SEPT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251489.2	NM_207366		10	38	1	0	1.08611e-07	0.000978	1.38156e-07	10	38				
WBSCR17	64409	broad.mit.edu	37	7	70880961	70880961	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:70880961C>A	ENST00000333538.5	+	4	1310	c.676C>A	c.(676-678)Ctg>Atg	p.L226M	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	226	Catalytic subdomain A.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.L226M(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GAGGGAAGGCCTGATCCGCGC	0.567																																							uc003tvy.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7						c.(676-678)CTG>ATG		UDP-GalNAc:polypeptide							92.0	79.0	83.0					7																	70880961		2203	4300	6503	SO:0001583	missense	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:70880961C>A	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.676C>A	7.37:g.70880961C>A	ENSP00000329654:p.Leu226Met					WBSCR17_uc003tvz.2_Translation_Start_Site	p.L226M	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN			4	676	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	226			Catalytic subdomain A.|Lumenal (Potential).		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	c.676C>A	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.348596	0.82132	.	.	ENSG00000185274	ENST00000333538	T	0.61392	0.11	5.04	4.15	0.48705	Glycosyl transferase, family 2 (1);	0.074126	0.56097	D	0.000030	T	0.81955	0.4932	H	0.94925	3.6	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.87120	0.2190	10	0.87932	D	0	.	14.5693	0.68202	0.0:0.8531:0.1469:0.0	.	226	Q6IS24	GLTL3_HUMAN	M	226	ENSP00000329654:L226M	ENSP00000329654:L226M	L	+	1	2	WBSCR17	70518897	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.600000	0.61083	1.113000	0.41760	0.462000	0.41574	CTG		0.567	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		22	44	1	0	2.44723e-14	0.004656	3.72852e-14	22	44				
Unknown	0	broad.mit.edu	37	7	72617495	72617495	+	IGR	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:72617495G>T								AC006995.8 (93061 upstream) : NCF1B (17178 downstream)																							AAAAGGCCCCGTGATACAAGG	0.512																																							uc003txo.3		NA																	0					0						c.(1483-1485)GTG>TTG		SubName: Full=cDNA FLJ61347, highly similar to General transcription factor II-I;																																				SO:0001628	intergenic_variant	2970							g.chr7:72617495G>T																													7.37:g.72617495G>T						FKBP6_uc003twz.2_Intron|GTF2IP1_uc011keq.1_Missense_Mutation_p.V495L	p.V495L	NR_003580						21	2364	+									Missense_Mutation	SNP		37	c.1483G>T																																																																																				0	0.512									29	85	1	0	3.03874e-20	0.003271	5.04309e-20	29	85				
TBL2	26608	broad.mit.edu	37	7	72988399	72988399	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:72988399C>A	ENST00000305632.5	-	3	556	c.315G>T	c.(313-315)ctG>ctT	p.L105L	TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000432538.1_Silent_p.L69L|TBL2_ENST00000452475.1_Silent_p.L105L	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	105							poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				CACAGGTAGCCAGGTATTTGC	0.572																																							uc003tyh.2		NA																	0					0						c.(313-315)CTG>CTT		transducin (beta)-like 2							163.0	127.0	139.0					7																	72988399		2203	4300	6503	SO:0001819	synonymous_variant	26608							g.chr7:72988399C>A	AF056183	CCDS5551.1	7q11.23	2013-01-10			ENSG00000106638	ENSG00000106638		"""WD repeat domain containing"""	11586	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 13"""	605842				9860302, 10575226	Standard	XM_006715923		Approved	WS-betaTRP, WBSCR13, DKFZP43N024	uc003tyh.3	Q9Y4P3	OTTHUMG00000023427	ENST00000305632.5:c.315G>T	7.37:g.72988399C>A						TBL2_uc011kex.1_Silent_p.L69L|TBL2_uc010lbg.2_Silent_p.L10L|TBL2_uc003tyi.2_5'UTR|TBL2_uc011key.1_Intron|TBL2_uc010lbh.2_Silent_p.L10L	p.L105L	NM_012453	NP_036585	Q9Y4P3	TBL2_HUMAN			3	449	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	105			WD 1.		Q9UQE2	Silent	SNP	ENST00000305632.5	37	c.315G>T	CCDS5551.1																																																																																				0.572	TBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252233.3	NM_012453		10	44	1	0	4.3838e-07	0.001855	5.45499e-07	10	44				
LAT2	7462	broad.mit.edu	37	7	73634097	73634097	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:73634097C>A	ENST00000460943.1	+	5	1047	c.158C>A	c.(157-159)aCg>aAg	p.T53K	LAT2_ENST00000275635.7_Missense_Mutation_p.T53K|LAT2_ENST00000344995.5_Missense_Mutation_p.T53K|LAT2_ENST00000398475.1_Missense_Mutation_p.T53K	NM_032464.2	NP_115853.2	Q9UHI5	LAT2_HUMAN	linker for activation of T cells family, member 2	0					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|metal ion homeostasis (GO:0055065)|neutral amino acid transport (GO:0015804)|organic cation transport (GO:0015695)|response to toxic substance (GO:0009636)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|organic cation transmembrane transporter activity (GO:0015101)|peptide antigen binding (GO:0042605)|toxin transporter activity (GO:0019534)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6					L-Alanine(DB00160)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	CAGAGCTTTACGGGGTCCCGG	0.607																																							uc003uag.2		NA																	0					0						c.(157-159)ACG>AAG		linker for activation of T cells family member							136.0	142.0	140.0					7																	73634097		1985	4148	6133	SO:0001583	missense	7462				B cell activation|B cell receptor signaling pathway|calcium-mediated signaling|mast cell degranulation	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding	g.chr7:73634097C>A	AF257135	CCDS5566.2	7q11.23	2011-11-01	2005-04-26	2005-04-26	ENSG00000086730	ENSG00000086730			12749	protein-coding gene	gene with protein product	"""linker for activation of B cells"", ""non-T cell activation linker"", ""linker for activation of T cells, transmembrane adaptor 2"""	605719	"""Williams-Beuren syndrome chromosome region 5"""	WBSCR15, WBSCR5		8812460, 12514734	Standard	NM_032464		Approved	WSCR5, HSPC046, LAB, NTAL	uc003uai.3	Q9GZY6	OTTHUMG00000130151	ENST00000460943.1:c.158C>A	7.37:g.73634097C>A	ENSP00000420494:p.Thr53Lys					RFC2_uc011kfa.1_Intron|LAT2_uc003uah.2_Missense_Mutation_p.T53K|LAT2_uc003uai.2_Missense_Mutation_p.T53K|LAT2_uc010lbo.2_RNA	p.T53K	NM_032464	NP_115853	Q9GZY6	NTAL_HUMAN			5	708	+			53			Cytoplasmic (Potential).		B2R8Q4|B4DKT4|B4DTV6|D3DS46|F2Z2J4|Q86U05|Q9UKQ6|Q9UKQ7|Q9UKQ8|Q9Y445	Missense_Mutation	SNP	ENST00000460943.1	37	c.158C>A	CCDS5566.2	.	.	.	.	.	.	.	.	.	.	C	11.91	1.779377	0.31502	.	.	ENSG00000086730	ENST00000465116;ENST00000344995;ENST00000460943;ENST00000475494;ENST00000398475;ENST00000361082;ENST00000275635;ENST00000470709	T;T;T;T;T;T;T;T	0.04917	3.53;3.53;3.53;3.53;3.53;3.53;3.53;3.53	3.64	1.78	0.24846	.	0.432066	0.19332	N	0.116864	T	0.03263	0.0095	N	0.14661	0.345	0.09310	N	1	B	0.32396	0.369	B	0.31337	0.128	T	0.41233	-0.9520	10	0.37606	T	0.19	-5.9767	4.2915	0.10881	0.2248:0.6561:0.0:0.119	.	53	Q9GZY6	NTAL_HUMAN	K	53;53;53;53;53;53;53;43	ENSP00000420549:T53K;ENSP00000344881:T53K;ENSP00000420494:T53K;ENSP00000417533:T53K;ENSP00000381492:T53K;ENSP00000354374:T53K;ENSP00000275635:T53K;ENSP00000419150:T43K	ENSP00000275635:T53K	T	+	2	0	LAT2	73272033	0.020000	0.18652	0.001000	0.08648	0.001000	0.01503	0.012000	0.13287	0.496000	0.27904	0.561000	0.74099	ACG		0.607	LAT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277062.1			51	152	1	0	5.5144e-22	0.00361	9.37134e-22	51	152				
POR	5447	broad.mit.edu	37	7	75608896	75608896	+	Splice_Site	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:75608896T>A	ENST00000461988.1	+	4	470	c.365T>A	c.(364-366)cTg>cAg	p.L122Q	POR_ENST00000475509.1_3'UTR|POR_ENST00000419840.1_5'UTR|POR_ENST00000439269.1_5'Flank|POR_ENST00000394893.1_Splice_Site_p.L122Q|POR_ENST00000450476.1_5'Flank|POR_ENST00000545601.1_5'Flank	NM_000941.2	NP_000932.3	P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase	119	Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}.				carnitine metabolic process (GO:0009437)|cellular organofluorine metabolic process (GO:0090346)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to peptide hormone stimulus (GO:0071375)|demethylation (GO:0070988)|fatty acid oxidation (GO:0019395)|flavonoid metabolic process (GO:0009812)|internal peptidyl-lysine acetylation (GO:0018393)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of lipase activity (GO:0060192)|nitrate catabolic process (GO:0043602)|nitric oxide catabolic process (GO:0046210)|oxidation-reduction process (GO:0055114)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|response to drug (GO:0042493)|response to nutrient (GO:0007584)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|hydrolase activity (GO:0016787)|iron ion binding (GO:0005506)|iron-cytochrome-c reductase activity (GO:0047726)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric oxide dioxygenase activity (GO:0008941)			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Ethylmorphine(DB01466)|Flavin adenine dinucleotide(DB03147)|Lipoic Acid(DB00166)|Mitomycin(DB00305)|Nilutamide(DB00665)|Nitrofurantoin(DB00698)	GAGTATGACCTGGTAAGCTGC	0.667																																							uc003udy.2		NA																	0				central_nervous_system(1)	1						c.(364-366)CTG>CAG		cytochrome P450 reductase	Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)						53.0	60.0	58.0					7																	75608896		2162	4257	6419	SO:0001630	splice_region_variant	5447				cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity	g.chr7:75608896T>A	AF258341	CCDS5579.1	7q11.2	2006-12-05			ENSG00000127948	ENSG00000127948			9208	protein-coding gene	gene with protein product		124015				2516426	Standard	NM_000941		Approved	CYPOR, FLJ26468	uc003udy.3	P16435	OTTHUMG00000130413	ENST00000461988.1:c.366+1T>A	7.37:g.75608896T>A						POR_uc011kgb.1_RNA|POR_uc011kgc.1_5'Flank|POR_uc011kgd.1_5'Flank|POR_uc011kge.1_5'Flank	p.L122Q	NM_000941	NP_000932	P16435	NCPR_HUMAN			4	447	+			119			Flavodoxin-like.		Q16455|Q197M5|Q8N181|Q9H3M8|Q9UDT3	Missense_Mutation	SNP	ENST00000461988.1	37	c.365T>A	CCDS5579.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.250885	0.80135	.	.	ENSG00000127948	ENST00000453773;ENST00000439963;ENST00000461988;ENST00000394893;ENST00000412521;ENST00000414186;ENST00000432753;ENST00000426184	T;T;T;T;T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64	4.06	4.06	0.47325	.	0.119079	0.56097	D	0.000032	T	0.75752	0.3892	L	0.41124	1.26	0.80722	D	1	D	0.76494	0.999	D	0.66351	0.943	T	0.78362	-0.2233	10	0.72032	D	0.01	-24.5173	12.6319	0.56663	0.0:0.0:0.0:1.0	.	128	Q59ED7	.	Q	122;122;122;122;122;122;122;75	ENSP00000395813:L122Q;ENSP00000390540:L122Q;ENSP00000419970:L122Q;ENSP00000378355:L122Q;ENSP00000409238:L122Q;ENSP00000399327:L122Q;ENSP00000389409:L122Q;ENSP00000400964:L75Q	ENSP00000378355:L122Q	L	+	2	0	POR	75446832	1.000000	0.71417	1.000000	0.80357	0.572000	0.35998	7.447000	0.80620	1.834000	0.53371	0.533000	0.62120	CTG		0.667	POR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252796.7	NM_000941	Missense_Mutation	19	50	0	0	0	0.00278	0	19	50				
MAGI2	9863	broad.mit.edu	37	7	77762304	77762304	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:77762304C>A	ENST00000354212.4	-	18	3358	c.3105G>T	c.(3103-3105)caG>caT	p.Q1035H	MAGI2_ENST00000522391.1_Missense_Mutation_p.Q1035H|MAGI2_ENST00000419488.1_Missense_Mutation_p.Q1021H	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1035	Pro-rich.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GGGGACTCTGCTGTGCCAGGG	0.627																																							uc003ugx.2		NA																	0				ovary(5)|lung(4)|breast(1)|skin(1)	11						c.(3103-3105)CAG>CAT		membrane associated guanylate kinase, WW and PDZ							124.0	142.0	136.0					7																	77762304		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77762304C>A	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.3105G>T	7.37:g.77762304C>A	ENSP00000346151:p.Gln1035His					MAGI2_uc003ugy.2_Missense_Mutation_p.Q1021H|MAGI2_uc010ldx.1_Missense_Mutation_p.Q628H	p.Q1035H	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN			18	3359	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	1035			Pro-rich.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.3105G>T	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.873600	0.72180	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.12672	2.75;2.75;2.66	5.43	3.25	0.37280	.	0.000000	0.35096	U	0.003458	T	0.21022	0.0506	L	0.29908	0.895	0.80722	D	1	D;D;D	0.71674	0.996;0.998;0.996	P;D;P	0.67548	0.896;0.952;0.896	T	0.00939	-1.1507	10	0.87932	D	0	.	8.5044	0.33179	0.0:0.6969:0.0:0.3031	.	1035;1021;1035	E7EWI0;Q86UL8-2;Q86UL8	.;.;MAGI2_HUMAN	H	1021;1035;1035;1035	ENSP00000405766:Q1021H;ENSP00000346151:Q1035H;ENSP00000428389:Q1035H	ENSP00000346151:Q1035H	Q	-	3	2	MAGI2	77600240	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.459000	0.35234	0.408000	0.25621	0.655000	0.94253	CAG		0.627	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		74	160	1	0	2.34191e-24	0.00361	4.04462e-24	74	160				
ABCB1	5243	broad.mit.edu	37	7	87160718	87160718	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:87160718C>T	ENST00000265724.3	-	22	2994	c.2577G>A	c.(2575-2577)ctG>ctA	p.L859L	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Silent_p.L795L	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	859	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	CTAAGAGTAACAGTGTTAGTT	0.383																																							uc003uiz.1		NA																	0				ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(2575-2577)CTG>CTA		ATP-binding cassette, subfamily B, member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						144.0	138.0	140.0					7																	87160718		2203	4300	6503	SO:0001819	synonymous_variant	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87160718C>T	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.2577G>A	7.37:g.87160718C>T						ABCB1_uc011khc.1_Silent_p.L795L	p.L859L	NM_000927	NP_000918	P08183	MDR1_HUMAN			22	2995	-	Esophageal squamous(14;0.00164)		859			ABC transmembrane type-1 2.|Helical; (Potential).		A8K294|B5AK60|Q12755|Q14812	Silent	SNP	ENST00000265724.3	37	c.2577G>A	CCDS5608.1																																																																																				0.383	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		23	73	0	0	0	0.002299	0	23	73				
RUNDC3B	154661	broad.mit.edu	37	7	87407136	87407136	+	Missense_Mutation	SNP	G	G	C	rs556184125	byFrequency	TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:87407136G>C	ENST00000338056.3	+	9	1283	c.872G>C	c.(871-873)cGa>cCa	p.R291P	RUNDC3B_ENST00000394654.3_Missense_Mutation_p.R274P|RUNDC3B_ENST00000493037.1_Missense_Mutation_p.R274P	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	291										breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					GAACTCTTACGACTTCGAGAG	0.368																																							uc003ujb.2		NA																	0				skin(1)	1						c.(871-873)CGA>CCA		RUN domain containing 3B isoform a							59.0	59.0	59.0					7																	87407136		2203	4300	6503	SO:0001583	missense	154661							g.chr7:87407136G>C		CCDS5609.1, CCDS47635.1, CCDS47636.1	7q21.12	2009-01-14			ENSG00000105784	ENSG00000105784			30286	protein-coding gene	gene with protein product						12645870	Standard	NM_138290		Approved	RPIP9, RPIB9	uc003ujb.3	Q96NL0	OTTHUMG00000131035	ENST00000338056.3:c.872G>C	7.37:g.87407136G>C	ENSP00000337732:p.Arg291Pro					RUNDC3B_uc011khd.1_Missense_Mutation_p.R274P|RUNDC3B_uc011khe.1_Missense_Mutation_p.R274P|RUNDC3B_uc003ujc.2_Missense_Mutation_p.R274P|RUNDC3B_uc003ujd.2_Missense_Mutation_p.R196P	p.R291P	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN			9	1283	+	Esophageal squamous(14;0.00164)		291					B4DFD0|E9PBR4|Q8IWW5|Q8NB55|Q8TBG7	Missense_Mutation	SNP	ENST00000338056.3	37	c.872G>C	CCDS5609.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.244848	0.79912	.	.	ENSG00000105784	ENST00000338056;ENST00000493037;ENST00000394654	T;T;T	0.60548	0.18;0.18;0.18	5.23	4.35	0.52113	.	0.058188	0.64402	D	0.000001	T	0.72510	0.3469	M	0.64404	1.975	0.80722	D	1	D;D;D;D;D	0.89917	0.975;0.986;1.0;0.998;0.991	P;P;D;D;D	0.87578	0.6;0.6;0.998;0.991;0.923	T	0.75587	-0.3266	10	0.87932	D	0	-4.6646	13.8013	0.63202	0.0741:0.0:0.9259:0.0	.	274;274;196;274;291	E9PBR4;B4DFD0;Q96NL0-2;Q96NL0-4;Q96NL0	.;.;.;.;RUN3B_HUMAN	P	291;274;274	ENSP00000337732:R291P;ENSP00000420394:R274P;ENSP00000378149:R274P	ENSP00000337732:R291P	R	+	2	0	RUNDC3B	87245072	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	5.965000	0.70387	1.201000	0.43203	0.561000	0.74099	CGA		0.368	RUNDC3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253679.1	NM_138290		10	17	0	0	0	0.00245	0	10	17				
ZNF804B	219578	broad.mit.edu	37	7	88847495	88847495	+	Silent	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:88847495A>T	ENST00000333190.4	+	2	744	c.135A>T	c.(133-135)gcA>gcT	p.A45A		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	45							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AGTCCACAGCAAAGGCCCTGG	0.348										HNSCC(36;0.09)																													uc011khi.1		NA																	0				ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(133-135)GCA>GCT		zinc finger protein 804B							79.0	77.0	78.0					7																	88847495		2203	4300	6503	SO:0001819	synonymous_variant	219578					intracellular	zinc ion binding	g.chr7:88847495A>T	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.135A>T	7.37:g.88847495A>T		HNSCC(36;0.09)					p.A45A	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		2	673	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		45					B2RTV2|Q7Z714|Q96MN7	Silent	SNP	ENST00000333190.4	37	c.135A>T	CCDS5613.1																																																																																				0.348	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		13	31	0	0	0	0.00245	0	13	31				
ZNF804B	219578	broad.mit.edu	37	7	88963101	88963101	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:88963101G>C	ENST00000333190.4	+	4	1414	c.805G>C	c.(805-807)Gca>Cca	p.A269P		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	269							metal ion binding (GO:0046872)	p.A269S(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CTGCAGGTTTGCAAATAAAGA	0.358										HNSCC(36;0.09)																													uc011khi.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(805-807)GCA>CCA		zinc finger protein 804B							72.0	67.0	68.0					7																	88963101		2202	4300	6502	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88963101G>C	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.805G>C	7.37:g.88963101G>C	ENSP00000329638:p.Ala269Pro	HNSCC(36;0.09)					p.A269P	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	1343	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		269					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.805G>C	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	G	11.05	1.524970	0.27299	.	.	ENSG00000182348	ENST00000333190	T	0.05996	3.36	5.04	4.09	0.47781	.	0.243501	0.29293	N	0.012580	T	0.12944	0.0314	L	0.57536	1.79	0.32991	D	0.524981	D	0.76494	0.999	D	0.63597	0.916	T	0.11842	-1.0571	10	0.25751	T	0.34	-18.4188	3.2072	0.06670	0.0887:0.1265:0.4597:0.3251	.	269	A4D1E1	Z804B_HUMAN	P	269	ENSP00000329638:A269P	ENSP00000329638:A269P	A	+	1	0	ZNF804B	88801037	0.574000	0.26684	0.994000	0.49952	0.837000	0.47467	0.444000	0.21661	2.630000	0.89119	0.655000	0.94253	GCA		0.358	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		16	17	0	0	0	0.00499	0	16	17				
CCDC132	55610	broad.mit.edu	37	7	92887685	92887685	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:92887685G>C	ENST00000305866.5	+	8	685	c.557G>C	c.(556-558)cGg>cCg	p.R186P	CCDC132_ENST00000535481.1_Intron|CCDC132_ENST00000317751.6_5'UTR|CCDC132_ENST00000544910.1_Missense_Mutation_p.R156P|CCDC132_ENST00000251739.5_Missense_Mutation_p.R186P|CCDC132_ENST00000541136.1_5'UTR	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	186						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			ACAGATGTACGGTTAAGTGAA	0.299																																							uc003umo.2		NA																	0					0						c.(556-558)CGG>CCG		coiled-coil domain containing 132 isoform a							115.0	120.0	119.0					7																	92887685		2203	4300	6503	SO:0001583	missense	55610							g.chr7:92887685G>C	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.557G>C	7.37:g.92887685G>C	ENSP00000307666:p.Arg186Pro					CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Missense_Mutation_p.R156P|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Intron|CCDC132_uc003umn.2_Missense_Mutation_p.R186P	p.R186P	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		8	685	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		186					B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	ENST00000305866.5	37	c.557G>C	CCDS43617.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.262653	0.80358	.	.	ENSG00000004766	ENST00000251739;ENST00000305866;ENST00000544910;ENST00000458530	.	.	.	5.5	4.61	0.57282	Vacuolar protein sorting-associated protein 54 (1);	0.000000	0.85682	D	0.000000	T	0.78194	0.4245	M	0.69823	2.125	0.80722	D	1	D;D;D	0.89917	0.998;0.999;1.0	D;D;D	0.87578	0.947;0.998;0.988	T	0.80948	-0.1154	9	0.62326	D	0.03	8.6968	16.0506	0.80760	0.0:0.0:0.8647:0.1353	.	156;186;186	F5H5U7;Q96JG6;Q96JG6-2	.;CC132_HUMAN;.	P	186;186;156;185	.	ENSP00000251739:R186P	R	+	2	0	CCDC132	92725621	1.000000	0.71417	0.992000	0.48379	0.942000	0.58702	9.869000	0.99810	1.449000	0.47699	0.585000	0.79938	CGG		0.299	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		22	66	0	0	0	0.005443	0	22	66				
SLC25A13	10165	broad.mit.edu	37	7	95775939	95775939	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:95775939C>G	ENST00000265631.5	-	14	1517	c.1381G>C	c.(1381-1383)Gaa>Caa	p.E461Q	SLC25A13_ENST00000416240.2_Missense_Mutation_p.E462Q|SLC25A13_ENST00000542654.1_Missense_Mutation_p.E353Q			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	461					aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	GTGGTGATTTCTCCTGCCACT	0.413																																							uc003uof.3		NA																	0				central_nervous_system(3)|skin(1)	4						c.(1381-1383)GAA>CAA		solute carrier family 25, member 13 isoform 2	L-Aspartic Acid(DB00128)						126.0	144.0	138.0					7																	95775939		2203	4300	6503	SO:0001583	missense	10165				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity	g.chr7:95775939C>G	AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"""Solute carriers"", ""EF-hand domain containing"""	10983	protein-coding gene	gene with protein product	"""mitochondrial aspartate glutamate carrier 2"""	603859	"""solute carrier family 25, member 13 (citrin)"""	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.1381G>C	7.37:g.95775939C>G	ENSP00000265631:p.Glu461Gln					SLC25A13_uc003uog.3_Missense_Mutation_p.E462Q|SLC25A13_uc011kik.1_Missense_Mutation_p.E353Q	p.E461Q	NM_014251	NP_055066	Q9UJS0	CMC2_HUMAN	STAD - Stomach adenocarcinoma(171;0.194)		14	1572	-	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		461			Solcar 2.		O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Missense_Mutation	SNP	ENST00000265631.5	37	c.1381G>C	CCDS5645.1	.	.	.	.	.	.	.	.	.	.	C	30	5.053458	0.93793	.	.	ENSG00000004864	ENST00000265631;ENST00000416240;ENST00000542654	T;T;T	0.79141	-1.24;-1.24;-1.24	4.63	4.63	0.57726	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.86581	0.5967	M	0.64630	1.985	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.987;0.997;0.997	D	0.87100	0.2178	10	0.54805	T	0.06	-20.7571	18.0706	0.89405	0.0:1.0:0.0:0.0	.	353;462;461	F5GX33;Q546F9;Q9UJS0	.;.;CMC2_HUMAN	Q	461;462;353	ENSP00000265631:E461Q;ENSP00000400101:E462Q;ENSP00000440484:E353Q	ENSP00000265631:E461Q	E	-	1	0	SLC25A13	95613875	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	7.651000	0.83577	2.575000	0.86900	0.655000	0.94253	GAA		0.413	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059395.2	NM_014251		64	129	0	0	0	0.00361	0	64	129				
TAC1	6863	broad.mit.edu	37	7	97365653	97365653	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:97365653C>G	ENST00000319273.5	+	6	629	c.332C>G	c.(331-333)gCt>gGt	p.A111G	TAC1_ENST00000350485.4_Intron|TAC1_ENST00000346867.4_Missense_Mutation_p.A96G	NM_003182.2	NP_003173.1	P20366	TKN1_HUMAN	tachykinin, precursor 1	111					associative learning (GO:0008306)|cell-cell signaling (GO:0007267)|detection of abiotic stimulus (GO:0009582)|inflammatory response (GO:0006954)|insemination (GO:0007320)|long-term memory (GO:0007616)|negative regulation of heart rate (GO:0010459)|neuropeptide signaling pathway (GO:0007218)|positive regulation of action potential (GO:0045760)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of corticosterone secretion (GO:2000854)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of ossification (GO:0045778)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of saliva secretion (GO:0046878)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of blood pressure (GO:0008217)|response to hormone (GO:0009725)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)|tachykinin receptor signaling pathway (GO:0007217)	axon (GO:0030424)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				large_intestine(4)|lung(6)|urinary_tract(1)	11	all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384)					GGCAAAAGAGCTTTAAATTCT	0.269																																							uc003uop.3		NA																	0					0						c.(331-333)GCT>GGT		tachykinin 1 isoform beta precursor	Bacitracin(DB00626)						68.0	77.0	74.0					7																	97365653		2199	4275	6474	SO:0001583	missense	6863				detection of abiotic stimulus|elevation of cytosolic calcium ion concentration|insemination|neuropeptide signaling pathway|synaptic transmission|tachykinin receptor signaling pathway	extracellular space		g.chr7:97365653C>G	M68907	CCDS5649.1, CCDS5650.1, CCDS5651.1	7q21-q22	2013-02-26	2008-01-17		ENSG00000006128	ENSG00000006128		"""Endogenous ligands"""	11517	protein-coding gene	gene with protein product	"""substance K"", ""substance P"", ""neurokinin 1"", ""neurokinin 2"", ""neuromedin L"", ""neurokinin alpha"", ""neuropeptide K"", ""neuropeptide gamma"", ""preprotachykinin"""	162320	"""tachykinin, precursor 1 (substance K, substance P, neurokinin 1, neurokinin 2, neuromedin L, neurokinin alpha, neuropeptide K, neuropeptide gamma)"""	TAC2, NKNA		1708336	Standard	NM_003182		Approved	NPK	uc003uop.4	P20366	OTTHUMG00000154069	ENST00000319273.5:c.332C>G	7.37:g.97365653C>G	ENSP00000321106:p.Ala111Gly					TAC1_uc003uoq.3_Intron|TAC1_uc003uor.3_Missense_Mutation_p.A96G|TAC1_uc003uos.3_Intron	p.A111G	NM_003182	NP_003173	P20366	TKN1_HUMAN			6	578	+	all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384)		111					O60600|O60601|Q00072|Q53GH4|Q549V0|Q549V1|Q549V2|Q6FHM1	Missense_Mutation	SNP	ENST00000319273.5	37	c.332C>G	CCDS5649.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.135462	0.56828	.	.	ENSG00000006128	ENST00000319273;ENST00000346867	.	.	.	5.74	5.74	0.90152	.	0.194562	0.53938	D	0.000054	T	0.43678	0.1258	N	0.08118	0	0.39352	D	0.965771	B;B	0.26147	0.143;0.122	B;B	0.30572	0.099;0.117	T	0.47262	-0.9131	9	0.66056	D	0.02	-10.7083	17.7968	0.88575	0.0:1.0:0.0:0.0	.	96;111	P20366-3;P20366	.;TKN1_HUMAN	G	111;96	.	ENSP00000321106:A111G	A	+	2	0	TAC1	97203589	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.217000	0.65252	2.880000	0.98712	0.650000	0.86243	GCT		0.269	TAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333696.1	NM_003182		21	49	0	0	0	0.002299	0	21	49				
OCM2	4951	broad.mit.edu	37	7	97617759	97617759	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:97617759G>A	ENST00000257627.4	-	2	254	c.163C>T	c.(163-165)Cag>Tag	p.Q55*	OCM2_ENST00000473987.2_5'UTR	NM_006188.3	NP_006179.2	P0CE71	OCM2_HUMAN	oncomodulin 2	55	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			lung(4)	4						TACCCGCTCTGGTCGTTGTCT	0.542																																							uc003upc.2		NA																	0					0						c.(163-165)CAG>TAG		oncomodulin-like							165.0	135.0	145.0					7																	97617759		2203	4300	6503	SO:0001587	stop_gained	4951						calcium ion binding	g.chr7:97617759G>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.163C>T	7.37:g.97617759G>A	ENSP00000257627:p.Gln55*						p.Q55*	NM_006188	NP_006179	P0CE71	OCM2_HUMAN			2	163	-			55			EF-hand 1.|1 (Potential).		P32930|Q6ISI5|Q75MW0	Nonsense_Mutation	SNP	ENST00000257627.4	37	c.163C>T	CCDS5653.1	.	.	.	.	.	.	.	.	.	.	g	23.5	4.423188	0.83559	.	.	ENSG00000135175	ENST00000257627	.	.	.	3.98	3.98	0.46160	.	0.422341	0.26268	N	0.025358	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.1616	10.9655	0.47410	0.0:0.1906:0.8094:0.0	.	.	.	.	X	55	.	ENSP00000257627:Q55X	Q	-	1	0	OCM2	97455695	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	1.803000	0.38863	2.074000	0.62210	0.472000	0.43445	CAG		0.542	OCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334188.1	NM_006188		27	49	0	0	0	0.009535	0	27	49				
OCM2	4951	broad.mit.edu	37	7	97619394	97619394	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:97619394C>A	ENST00000257627.4	-	1	114	c.23G>T	c.(22-24)aGt>aTt	p.S8I	OCM2_ENST00000473987.2_5'UTR	NM_006188.3	NP_006179.2	P0CE71	OCM2_HUMAN	oncomodulin 2	8							calcium ion binding (GO:0005509)	p.S8I(1)		lung(4)	4						GTCATCAGCACTGAGCACGTC	0.552																																							uc003upc.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(22-24)AGT>ATT		oncomodulin-like							112.0	96.0	102.0					7																	97619394		2203	4300	6503	SO:0001583	missense	4951						calcium ion binding	g.chr7:97619394C>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.23G>T	7.37:g.97619394C>A	ENSP00000257627:p.Ser8Ile						p.S8I	NM_006188	NP_006179	P0CE71	OCM2_HUMAN			1	23	-			8					P32930|Q6ISI5|Q75MW0	Missense_Mutation	SNP	ENST00000257627.4	37	c.23G>T	CCDS5653.1	.	.	.	.	.	.	.	.	.	.	c	15.12	2.738187	0.49045	.	.	ENSG00000135175	ENST00000257627	T	0.73789	-0.78	3.49	3.49	0.39957	.	0.170750	0.53938	D	0.000060	T	0.78855	0.4349	M	0.88105	2.93	0.28656	N	0.906401	D	0.55605	0.972	P	0.44422	0.449	T	0.78526	-0.2170	10	0.72032	D	0.01	2.585	12.7019	0.57038	0.0:1.0:0.0:0.0	.	8	P0CE71	OCM2_HUMAN	I	8	ENSP00000257627:S8I	ENSP00000257627:S8I	S	-	2	0	OCM2	97457330	0.993000	0.37304	0.739000	0.30968	0.708000	0.40852	2.082000	0.41605	1.813000	0.52934	0.465000	0.42564	AGT		0.552	OCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334188.1	NM_006188		18	43	1	0	1.85244e-09	0.00333	2.5179e-09	18	43				
TRRAP	8295	broad.mit.edu	37	7	98564667	98564667	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:98564667C>T	ENST00000359863.4	+	49	7368	c.7159C>T	c.(7159-7161)Cct>Tct	p.P2387S	TRRAP_ENST00000446306.3_Missense_Mutation_p.P2369S|TRRAP_ENST00000355540.3_Missense_Mutation_p.P2369S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2387	Interaction with TP53.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CATACAGACACCTACACTCCG	0.358																																							uc003upp.2		NA																	0				ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37						c.(7159-7161)CCT>TCT		transformation/transcription domain-associated							80.0	80.0	80.0					7																	98564667		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98564667C>T	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.7159C>T	7.37:g.98564667C>T	ENSP00000352925:p.Pro2387Ser					TRRAP_uc011kis.1_Missense_Mutation_p.P2369S|TRRAP_uc003upr.2_Missense_Mutation_p.P2086S	p.P2387S	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		49	7368	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		2387			Interaction with TP53.		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.7159C>T	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	34	5.373455	0.95923	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.68903	-0.36;-0.36	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.82527	0.5056	M	0.79475	2.455	0.80722	D	1	D;D;D	0.63880	0.993;0.989;0.969	D;P;P	0.66602	0.945;0.814;0.711	D	0.83619	0.0138	10	0.72032	D	0.01	.	19.9983	0.97395	0.0:1.0:0.0:0.0	.	2369;2108;2387	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	S	2387;2369;2368	ENSP00000352925:P2387S;ENSP00000347733:P2369S	ENSP00000347733:P2369S	P	+	1	0	TRRAP	98402603	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.818000	0.86416	2.724000	0.93272	0.561000	0.74099	CCT		0.358	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		11	39	0	0	0	0.001855	0	11	39				
TRRAP	8295	broad.mit.edu	37	7	98591355	98591355	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:98591355G>A	ENST00000359863.4	+	65	10209	c.10000G>A	c.(10000-10002)Gaa>Aaa	p.E3334K	TRRAP_ENST00000446306.3_Missense_Mutation_p.E3323K|TRRAP_ENST00000355540.3_Missense_Mutation_p.E3305K	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3334					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AAATTGGCATGAAGAGGTATT	0.522																																							uc003upp.2		NA																	0				ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37						c.(10000-10002)GAA>AAA		transformation/transcription domain-associated							199.0	176.0	184.0					7																	98591355		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98591355G>A	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.10000G>A	7.37:g.98591355G>A	ENSP00000352925:p.Glu3334Lys					TRRAP_uc011kis.1_Missense_Mutation_p.E3305K|TRRAP_uc003upr.2_Missense_Mutation_p.E3040K	p.E3334K	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		65	10209	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		3334					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.10000G>A	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.230457|5.230457	0.95207|0.95207	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.03663|.	3.85;3.85|.	5.42|5.42	4.53|4.53	0.55603|0.55603	.|.	0.051894|.	0.85682|.	N|.	0.000000|.	T|T	0.79805|0.79805	0.4509|0.4509	M|M	0.89095|0.89095	3.005|3.005	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.999;0.999;0.998|.	D|D	0.83456|0.83456	0.0051|0.0051	10|5	0.87932|.	D|.	0|.	.|.	14.3824|14.3824	0.66921|0.66921	0.0715:0.0:0.9285:0.0|0.0715:0.0:0.9285:0.0	.|.	3305;3062;3334|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	K|I	3334;3305;3322|3062	ENSP00000352925:E3334K;ENSP00000347733:E3305K|.	ENSP00000347733:E3305K|.	E|M	+|+	1|3	0|0	TRRAP|TRRAP	98429291|98429291	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.995000|0.995000	0.86356|0.86356	9.762000|9.762000	0.98944|0.98944	1.409000|1.409000	0.46915|0.46915	0.655000|0.655000	0.94253|0.94253	GAA|ATG		0.522	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		11	26	0	0	0	0.001855	0	11	26				
SMURF1	57154	broad.mit.edu	37	7	98633176	98633176	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:98633176G>C	ENST00000361125.1	-	17	2370	c.2051C>G	c.(2050-2052)tCc>tGc	p.S684C	AC004893.11_ENST00000468960.2_RNA|AC004893.11_ENST00000360902.1_RNA|SMURF1_ENST00000361368.2_Missense_Mutation_p.S658C	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	684	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of ossification (GO:0030279)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein export from nucleus (GO:0006611)|protein localization to cell surface (GO:0034394)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activin binding (GO:0048185)|I-SMAD binding (GO:0070411)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			GACTCGCGTGGACCCAGTCAC	0.597																																							uc003upu.1		NA																	0				skin(2)|ovary(1)|lung(1)	4						c.(2050-2052)TCC>TGC		Smad ubiquitination regulatory factor 1 isoform							113.0	98.0	103.0					7																	98633176		2203	4300	6503	SO:0001583	missense	57154				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity	g.chr7:98633176G>C	AB046845	CCDS34689.1, CCDS34690.1	7q21.1-q31.1	2004-07-29			ENSG00000198742	ENSG00000198742			16807	protein-coding gene	gene with protein product		605568				10458166	Standard	NM_020429		Approved	KIAA1625	uc003upu.2	Q9HCE7	OTTHUMG00000150272	ENST00000361125.1:c.2051C>G	7.37:g.98633176G>C	ENSP00000354621:p.Ser684Cys					SMURF1_uc003upv.1_Missense_Mutation_p.S658C|SMURF1_uc003upt.2_Missense_Mutation_p.S658C|TRRAP_uc003ups.2_RNA	p.S684C	NM_020429	NP_065162	Q9HCE7	SMUF1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)		17	2371	-	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		684			HECT.		A4D279|B7ZMB6|B9EGV3|O75853|Q547Q3|Q9UJT8	Missense_Mutation	SNP	ENST00000361125.1	37	c.2051C>G	CCDS34690.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.133399	0.77662	.	.	ENSG00000198742	ENST00000361368;ENST00000361125	T;T	0.59772	0.24;0.24	5.37	5.37	0.77165	HECT (4);	0.000000	0.85682	D	0.000000	T	0.74458	0.3719	L	0.59967	1.855	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.998	T	0.76509	-0.2933	10	0.87932	D	0	.	19.1035	0.93283	0.0:0.0:1.0:0.0	.	658;684;658	Q9HCE7-2;Q9HCE7;B9EGV3	.;SMUF1_HUMAN;.	C	658;684	ENSP00000355326:S658C;ENSP00000354621:S684C	ENSP00000354621:S684C	S	-	2	0	SMURF1	98471112	1.000000	0.71417	0.601000	0.28877	0.337000	0.28794	9.828000	0.99408	2.535000	0.85469	0.655000	0.94253	TCC		0.597	SMURF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000335001.2	NM_020429		22	36	0	0	0	0.004656	0	22	36				
CPSF4	10898	broad.mit.edu	37	7	99047933	99047933	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:99047933C>T	ENST00000292476.5	+	4	352	c.342C>T	c.(340-342)caC>caT	p.H114H	CPSF4_ENST00000436336.2_Silent_p.H114H|ATP5J2_ENST00000466753.1_Intron|CPSF4_ENST00000441580.1_Silent_p.H61H|ATP5J2-PTCD1_ENST00000437572.1_Intron|ATP5J2-PTCD1_ENST00000413834.1_Intron|PTCD1_ENST00000555673.1_Intron|CPSF4_ENST00000451876.1_Intron|CPSF4_ENST00000471455.1_3'UTR			O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4, 30kDa	114					modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA processing (GO:0006397)|viral life cycle (GO:0019058)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CCTTCCTGCACATCGACCCCG	0.617																																							uc003uqj.2		NA																	0				central_nervous_system(1)	1						c.(340-342)CAC>CAT		cleavage and polyadenylation specific factor 4,							86.0	70.0	75.0					7																	99047933		2203	4300	6503	SO:0001819	synonymous_variant	10898				modification by virus of host mRNA processing|mRNA processing|viral infectious cycle	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|zinc ion binding	g.chr7:99047933C>T		CCDS5664.1, CCDS47652.1	7q22	2007-10-18	2002-08-29		ENSG00000160917	ENSG00000160917			2327	protein-coding gene	gene with protein product		603052	"""cleavage and polyadenylation specific factor 4, 30kD subunit"""			9651582, 9224719	Standard	NM_006693		Approved	NAR, CPSF30	uc003uqj.3	O95639	OTTHUMG00000154599	ENST00000292476.5:c.342C>T	7.37:g.99047933C>T						PTCD1_uc011kiw.1_Intron|CPSF4_uc003uqi.2_Silent_p.H114H|CPSF4_uc003uqk.2_Silent_p.H114H|CPSF4_uc011kix.1_Silent_p.H61H	p.H114H	NM_006693	NP_006684	O95639	CPSF4_HUMAN			4	485	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		114			C3H1-type 3.		D6W5S8|Q6FGE6|Q86TF8|Q9BTW6	Silent	SNP	ENST00000292476.5	37	c.342C>T	CCDS5664.1																																																																																				0.617	CPSF4-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336254.1			15	34	0	0	0	0.007413	0	15	34				
MCM7	4176	broad.mit.edu	37	7	99695832	99695832	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:99695832C>T	ENST00000303887.5	-	7	1447	c.802G>A	c.(802-804)Gga>Aga	p.G268R	MCM7_ENST00000354230.3_Missense_Mutation_p.G92R|MCM7_ENST00000343023.6_Missense_Mutation_p.G268R	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	268					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACGTGGTCTCCAGGCTGGGCA	0.527																																							uc003usw.1		NA																	0					0						c.(802-804)GGA>AGA		minichromosome maintenance complex component 7	Atorvastatin(DB01076)						130.0	104.0	113.0					7																	99695832		2203	4300	6503	SO:0001583	missense	4176				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding	g.chr7:99695832C>T		CCDS5683.1, CCDS5684.1	7q21.3-q22.1	2014-06-12	2007-04-04		ENSG00000166508	ENSG00000166508			6950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 104"""	600592	"""minichromosome maintenance deficient (S. cerevisiae) 7"", ""MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)"""	MCM2		7842741	Standard	NM_005916		Approved	CDC47, PPP1R104	uc003usw.1	P33993	OTTHUMG00000154671	ENST00000303887.5:c.802G>A	7.37:g.99695832C>T	ENSP00000307288:p.Gly268Arg					MCM7_uc003usv.1_Missense_Mutation_p.G92R|MCM7_uc003usx.1_Missense_Mutation_p.G92R	p.G268R	NM_005916	NP_005907	P33993	MCM7_HUMAN			7	1312	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		268					A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Missense_Mutation	SNP	ENST00000303887.5	37	c.802G>A	CCDS5683.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.020109	0.75275	.	.	ENSG00000166508	ENST00000343023;ENST00000303887;ENST00000542483;ENST00000362082;ENST00000354230;ENST00000425308	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	4.45	4.45	0.53987	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	D	0.87321	0.6148	H	0.96861	3.895	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91445	0.5177	10	0.87932	D	0	-8.329	14.6446	0.68751	0.0:1.0:0.0:0.0	.	268	P33993	MCM7_HUMAN	R	268;268;205;161;92;161	ENSP00000344006:G268R;ENSP00000307288:G268R;ENSP00000346171:G92R;ENSP00000411295:G161R	ENSP00000307288:G268R	G	-	1	0	MCM7	99533768	1.000000	0.71417	1.000000	0.80357	0.376000	0.30014	7.049000	0.76613	2.319000	0.78375	0.313000	0.20887	GGA		0.527	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336534.3			9	30	0	0	0	0.006214	0	9	30				
NAT16	375607	broad.mit.edu	37	7	100817860	100817860	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:100817860G>T	ENST00000300303.2	-	2	467	c.229C>A	c.(229-231)Ctg>Atg	p.L77M	NAT16_ENST00000443096.1_Missense_Mutation_p.L77M|NAT16_ENST00000455377.1_Missense_Mutation_p.L77M	NM_198571.2	NP_940973.2	Q8N8M0	NAT16_HUMAN	N-acetyltransferase 16 (GCN5-related, putative)	77	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.						N-acetyltransferase activity (GO:0008080)										AGGTAGTCCAGGCCGCCGTAG	0.687																																							uc003uxy.1		NA																	0				ovary(1)	1						c.(229-231)CTG>ATG		hypothetical protein LOC375607							46.0	40.0	42.0					7																	100817860		2203	4300	6503	SO:0001583	missense	375607						N-acetyltransferase activity	g.chr7:100817860G>T	AK096556	CCDS5713.1	7q22.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000167011	ENSG00000167011			22030	protein-coding gene	gene with protein product		615783	"""chromosome 7 open reading frame 52"""	C7orf52			Standard	NM_198571		Approved	FLJ39237	uc003uxy.2	Q8N8M0	OTTHUMG00000157110	ENST00000300303.2:c.229C>A	7.37:g.100817860G>T	ENSP00000300303:p.Leu77Met					C7orf52_uc003uxz.1_Missense_Mutation_p.L77M|C7orf52_uc003uya.1_Missense_Mutation_p.L77M|C7orf52_uc003uyb.1_Missense_Mutation_p.L77M	p.L77M	NM_198571	NP_940973	Q8N8M0	CG052_HUMAN			2	468	-	Lung NSC(181;0.168)|all_lung(186;0.215)		77			N-acetyltransferase.		B3KRS2|Q8NDR1	Missense_Mutation	SNP	ENST00000300303.2	37	c.229C>A	CCDS5713.1	.	.	.	.	.	.	.	.	.	.	G	11.64	1.698457	0.30142	.	.	ENSG00000167011	ENST00000300303;ENST00000455377;ENST00000444446;ENST00000443096	T;T;T;T	0.51071	0.9;0.9;0.9;0.72	3.72	0.637	0.17735	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (1);	0.112686	0.35615	U	0.003086	T	0.47002	0.1422	L	0.31926	0.97	0.28885	N	0.894169	D;D	0.69078	0.989;0.997	P;P	0.61003	0.882;0.882	T	0.42515	-0.9447	10	0.41790	T	0.15	.	7.8674	0.29545	0.0:0.331:0.4985:0.1705	.	77;77	B3KRS2;Q8N8M0	.;CG052_HUMAN	M	77	ENSP00000300303:L77M;ENSP00000395125:L77M;ENSP00000391769:L77M;ENSP00000394435:L77M	ENSP00000300303:L77M	L	-	1	2	C7orf52	100604580	1.000000	0.71417	0.003000	0.11579	0.587000	0.36485	1.842000	0.39250	-0.072000	0.12864	0.407000	0.27541	CTG		0.687	NAT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347465.1	NM_198571		16	41	1	0	5.3912e-06	0.006122	6.42881e-06	16	41				
RELN	5649	broad.mit.edu	37	7	103131117	103131117	+	Silent	SNP	A	A	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:103131117A>G	ENST00000428762.1	-	59	9762	c.9603T>C	c.(9601-9603)tcT>tcC	p.S3201S	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Silent_p.S3201S|RELN_ENST00000343529.5_Silent_p.S3201S	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3201					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CAACCTACCTAGAGGAGACAT	0.468																																					NSCLC(146;835 1944 15585 22231 52158)	NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	0				ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(9601-9603)TCT>TCC		reelin isoform a							160.0	147.0	151.0					7																	103131117		2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103131117A>G		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.9603T>C	7.37:g.103131117A>G						RELN_uc010liz.2_Silent_p.S3201S	p.S3201S	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	59	9763	-			3201					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.9603T>C	CCDS47680.1																																																																																				0.468	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		35	71	0	0	0	0.00874	0	35	71				
RELN	5649	broad.mit.edu	37	7	103243856	103243856	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:103243856C>G	ENST00000428762.1	-	24	3387	c.3228G>C	c.(3226-3228)caG>caC	p.Q1076H	RELN_ENST00000424685.2_Missense_Mutation_p.Q1076H|RELN_ENST00000343529.5_Missense_Mutation_p.Q1076H	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1076					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCCAGCCATTCTGGTTCTCAA	0.493																																					NSCLC(146;835 1944 15585 22231 52158)	NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	0				ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(3226-3228)CAG>CAC		reelin isoform a							107.0	104.0	105.0					7																	103243856		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103243856C>G		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.3228G>C	7.37:g.103243856C>G	ENSP00000392423:p.Gln1076His					RELN_uc010liz.2_Missense_Mutation_p.Q1076H	p.Q1076H	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	24	3388	-			1076					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.3228G>C	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.290185	0.59976	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.24151	1.87;2.02;1.87	5.45	4.57	0.56435	.	0.262657	0.38548	N	0.001649	T	0.22975	0.0555	L	0.47716	1.5	0.25583	N	0.986772	P;P	0.45396	0.857;0.681	B;B	0.43123	0.409;0.174	T	0.12967	-1.0527	10	0.42905	T	0.14	.	6.7939	0.23715	0.0:0.703:0.0:0.297	.	1076;1076	P78509-2;P78509	.;RELN_HUMAN	H	1076	ENSP00000392423:Q1076H;ENSP00000345694:Q1076H;ENSP00000388446:Q1076H	ENSP00000345694:Q1076H	Q	-	3	2	RELN	103031092	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	0.592000	0.23984	1.299000	0.44798	0.655000	0.94253	CAG		0.493	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		36	82	0	0	0	0.004878	0	36	82				
GPR22	2845	broad.mit.edu	37	7	107114493	107114493	+	5'UTR	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:107114493C>A	ENST00000304402.4	+	0	1331				COG5_ENST00000297135.3_Intron|COG5_ENST00000393603.2_Intron|COG5_ENST00000347053.3_Intron|COG5_ENST00000475638.2_Intron	NM_005295.2	NP_005286.2	Q99680	GPR22_HUMAN	G protein-coupled receptor 22						G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						AAAAAACCAACTGCTCCAAAA	0.318																																							uc003vef.2		NA																	0				ovary(2)	2						c.(-14--10)AACTG>AAATG		G protein-coupled receptor 22							44.0	40.0	41.0					7																	107114493		2202	4299	6501	SO:0001623	5_prime_UTR_variant	2845					integral to plasma membrane	G-protein coupled receptor activity	g.chr7:107114493C>A	U66581	CCDS5744.1	7q22-q31.1	2012-08-21			ENSG00000172209	ENSG00000172209		"""GPCR / Class A : Orphans"""	4477	protein-coding gene	gene with protein product		601910				9073069	Standard	NM_005295		Approved		uc003vef.3	Q99680	OTTHUMG00000154902	ENST00000304402.4:c.-13C>A	7.37:g.107114493C>A						COG5_uc003vec.2_Intron|COG5_uc003ved.2_Intron|COG5_uc003vee.2_Intron		NM_005295	NP_005286	Q99680	GPR22_HUMAN			3	1334	+								O14554	Translation_Start_Site	SNP	ENST00000304402.4	37	c.-12C>A	CCDS5744.1																																																																																				0.318	GPR22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337598.1			8	19	1	0	0.00307968	0.00308	0.00328514	8	19				
GPR22	2845	broad.mit.edu	37	7	107115596	107115596	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:107115596C>A	ENST00000304402.4	+	3	2434	c.1091C>A	c.(1090-1092)cCt>cAt	p.P364H	COG5_ENST00000297135.3_Intron|COG5_ENST00000393603.2_Intron|COG5_ENST00000347053.3_Intron|COG5_ENST00000475638.2_Intron	NM_005295.2	NP_005286.2	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	364					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						ATATTTCACCCTCTATTATAT	0.318																																							uc003vef.2		NA																	0				ovary(2)	2						c.(1090-1092)CCT>CAT		G protein-coupled receptor 22							71.0	77.0	75.0					7																	107115596		2203	4300	6503	SO:0001583	missense	2845					integral to plasma membrane	G-protein coupled receptor activity	g.chr7:107115596C>A	U66581	CCDS5744.1	7q22-q31.1	2012-08-21			ENSG00000172209	ENSG00000172209		"""GPCR / Class A : Orphans"""	4477	protein-coding gene	gene with protein product		601910				9073069	Standard	NM_005295		Approved		uc003vef.3	Q99680	OTTHUMG00000154902	ENST00000304402.4:c.1091C>A	7.37:g.107115596C>A	ENSP00000302676:p.Pro364His					COG5_uc003vec.2_Intron|COG5_uc003ved.2_Intron|COG5_uc003vee.2_Intron	p.P364H	NM_005295	NP_005286	Q99680	GPR22_HUMAN			3	2437	+			364			Helical; Name=7; (Potential).		O14554	Missense_Mutation	SNP	ENST00000304402.4	37	c.1091C>A	CCDS5744.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.533536	0.64972	.	.	ENSG00000172209	ENST00000304402	D	0.98807	-5.15	5.55	5.55	0.83447	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99039	0.9671	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99894	1.1141	10	0.87932	D	0	-10.1121	19.4973	0.95079	0.0:1.0:0.0:0.0	.	364	Q99680	GPR22_HUMAN	H	364	ENSP00000302676:P364H	ENSP00000302676:P364H	P	+	2	0	GPR22	106902832	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.616000	0.88540	0.585000	0.79938	CCT		0.318	GPR22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337598.1			13	39	1	0	0.000308642	0.003163	0.000341227	13	39				
EIF3IP1	442720	broad.mit.edu	37	7	109599700	109599700	+	IGR	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:109599700T>A								AC073071.1 (362477 upstream) : AC003088.1 (472595 downstream)																							CTCCTTAATATTCACCAACAC	0.488																																							uc003vfp.1		NA																	0					0						c.(397-399)AAT>ATT		Homo sapiens eukaryotic translation initiation factor 3, subunit I pseudogene 1 (EIF3IP1), non-coding RNA.																																				SO:0001628	intergenic_variant	442720							g.chr7:109599700T>A																													7.37:g.109599700T>A							p.N133I	NR_003024						1	571	-									Missense_Mutation	SNP		37	c.398A>T																																																																																				0	0.488									7	41	0	0	0	0.004482	0	7	41				
TMEM168	64418	broad.mit.edu	37	7	112423920	112423920	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:112423920T>A	ENST00000312814.6	-	2	1521	c.961A>T	c.(961-963)Acc>Tcc	p.T321S	TMEM168_ENST00000454074.1_Missense_Mutation_p.T321S	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	321						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						TTTAATTTGGTATGGAATCCC	0.348																																							uc003vgn.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(961-963)ACC>TCC		transmembrane protein 168							98.0	111.0	107.0					7																	112423920		2203	4300	6503	SO:0001583	missense	64418					integral to membrane|transport vesicle		g.chr7:112423920T>A		CCDS5757.1	7q31.32	2006-08-08			ENSG00000146802	ENSG00000146802			25826	protein-coding gene	gene with protein product						12477932	Standard	XM_005250527		Approved	DKFZp564C012,FLJ13576	uc003vgn.3	Q9H0V1	OTTHUMG00000155188	ENST00000312814.6:c.961A>T	7.37:g.112423920T>A	ENSP00000323068:p.Thr321Ser					TMEM168_uc010lju.2_Missense_Mutation_p.T321S|TMEM168_uc011kmr.1_Intron	p.T321S	NM_022484	NP_071929	Q9H0V1	TM168_HUMAN			2	1353	-			321					A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Missense_Mutation	SNP	ENST00000312814.6	37	c.961A>T	CCDS5757.1	.	.	.	.	.	.	.	.	.	.	T	10.74	1.434954	0.25813	.	.	ENSG00000146802	ENST00000312814;ENST00000454074	.	.	.	6.07	4.92	0.64577	.	0.133568	0.64402	D	0.000002	T	0.40791	0.1131	N	0.24115	0.695	0.80722	D	1	B	0.20052	0.041	B	0.23574	0.047	T	0.18808	-1.0325	9	0.07325	T	0.83	-11.0644	12.8635	0.57926	0.1221:0.0:0.0:0.8779	.	321	Q9H0V1	TM168_HUMAN	S	321	.	ENSP00000323068:T321S	T	-	1	0	TMEM168	112211156	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.067000	0.57527	1.102000	0.41551	0.533000	0.62120	ACC		0.348	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338696.4	NM_022484		33	81	0	0	0	0.003755	0	33	81				
GPR85	54329	broad.mit.edu	37	7	112723809	112723809	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:112723809G>T	ENST00000297146.3	-	3	1571	c.968C>A	c.(967-969)gCt>gAt	p.A323D	GPR85_ENST00000487573.1_5'Flank|GPR85_ENST00000501255.2_Missense_Mutation_p.A323D|GPR85_ENST00000449591.1_Missense_Mutation_p.A323D|GPR85_ENST00000424100.1_Missense_Mutation_p.A323D	NM_001146266.1	NP_001139738.1	P60893	GPR85_HUMAN	G protein-coupled receptor 85	323					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						CCAGACAGCAGCTGTTAGAAA	0.483																																							uc010ljv.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(967-969)GCT>GAT		G protein-coupled receptor 85							53.0	56.0	55.0					7																	112723809		2203	4300	6503	SO:0001583	missense	54329					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr7:112723809G>T	AF250237	CCDS5758.1	7q31	2012-08-21			ENSG00000164604	ENSG00000164604		"""GPCR / Class A : Orphans"""	4536	protein-coding gene	gene with protein product		605188				10978537, 10833454	Standard	NM_018970		Approved	SREB2	uc003vgp.1	P60893	OTTHUMG00000156933	ENST00000297146.3:c.968C>A	7.37:g.112723809G>T	ENSP00000297146:p.Ala323Asp					GPR85_uc003vgp.1_Missense_Mutation_p.A323D|GPR85_uc003vgq.2_Missense_Mutation_p.A323D|GPR85_uc010ljw.1_Missense_Mutation_p.A323D	p.A323D	NM_001146266	NP_001139738	P60893	GPR85_HUMAN			2	1485	-			323			Helical; Name=7; (Potential).		Q9JHI6|Q9NPD1	Missense_Mutation	SNP	ENST00000297146.3	37	c.968C>A	CCDS5758.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.189822	0.57909	.	.	ENSG00000164604	ENST00000501255;ENST00000297146;ENST00000424100;ENST00000449591	T;T;T;T	0.38887	1.11;1.11;1.11;1.11	4.91	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.55768	0.1941	L	0.43152	1.355	0.80722	D	1	D	0.59767	0.986	P	0.61477	0.889	T	0.58317	-0.7657	10	0.87932	D	0	.	18.6417	0.91398	0.0:0.0:1.0:0.0	.	323	P60893	GPR85_HUMAN	D	323	ENSP00000445808:A323D;ENSP00000297146:A323D;ENSP00000396763:A323D;ENSP00000401178:A323D	ENSP00000297146:A323D	A	-	2	0	GPR85	112511045	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.807000	0.86032	2.718000	0.92993	0.585000	0.79938	GCT		0.483	GPR85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346650.2			19	28	1	0	1.00905e-13	0.008871	1.51408e-13	19	28				
CAPZA2	830	broad.mit.edu	37	7	116552135	116552136	+	Missense_Mutation	DNP	GA	GA	TT			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	GA	GA	-	-	GA	GA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:116552135_116552136GA>TT	ENST00000361183.3	+	8	737_738	c.598_599GA>TT	c.(598-600)GAa>TTa	p.E200L	Y_RNA_ENST00000516306.1_RNA|CAPZA2_ENST00000458284.2_Nonstop_Mutation_p.*173F	NM_006136.2	NP_006127.1	P47755	CAZA2_HUMAN	capping protein (actin filament) muscle Z-line, alpha 2	200					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)	actin cytoskeleton (GO:0015629)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|WASH complex (GO:0071203)				endometrium(2)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	13	all_cancers(3;8.53e-08)|all_epithelial(6;7.79e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)		GBM - Glioblastoma multiforme(2;5.01e-06)|STAD - Stomach adenocarcinoma(10;0.000512)|all cancers(2;0.00326)			TCATTATTATGAAGATGGTAAT	0.312																																							uc003vil.2		NA																	0					0						c.(598-600)GAA>TTA		capping protein (actin filament) muscle Z-line,																																				SO:0001583	missense	830				actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	cytosol|extracellular region|F-actin capping protein complex	actin binding	g.chr7:116552135_116552136GA>TT		CCDS5768.1	7q31.2-q31.3	2008-07-18			ENSG00000198898	ENSG00000198898			1490	protein-coding gene	gene with protein product	"""F-actin capping protein alpha-2 subunit"""	601571					Standard	NM_006136		Approved	CAPZ, CAPPA2	uc003vil.3	P47755	OTTHUMG00000023185	Exception_encountered	7.37:g.116552135_116552136delinsTT	ENSP00000354947:p.Glu200Leu					CAPZA2_uc011knk.1_RNA	p.E200L	NM_006136	NP_006127	P47755	CAZA2_HUMAN	GBM - Glioblastoma multiforme(2;5.01e-06)|STAD - Stomach adenocarcinoma(10;0.000512)|all cancers(2;0.00326)		8	701_702	+	all_cancers(3;8.53e-08)|all_epithelial(6;7.79e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)		200					B4DG50	Missense_Mutation	DNP	ENST00000361183.3	37	c.598_599GA>TT	CCDS5768.1																																																																																				0.312	CAPZA2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059506.4	NM_006136		25	58	0	0	0	0.004672	0	25	58				
CFTR	1080	broad.mit.edu	37	7	117170968	117170968	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:117170968G>T	ENST00000003084.6	+	4	421	c.289G>T	c.(289-291)Gta>Tta	p.V97L	CFTR_ENST00000454343.1_Missense_Mutation_p.V97L	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	97	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	CACCAAAGCAGTACAGCCTCT	0.388									Cystic Fibrosis																														uc003vjd.2		NA																	0				central_nervous_system(2)|skin(2)|ovary(1)	5	GRCh37	CD992496	CFTR	D		c.(289-291)GTA>TTA		cystic fibrosis transmembrane conductance	Bumetanide(DB00887)|Glibenclamide(DB01016)						83.0	76.0	78.0					7																	117170968		2203	4300	6503	SO:0001583	missense	1080	Cystic_Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	g.chr7:117170968G>T	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.289G>T	7.37:g.117170968G>T	ENSP00000003084:p.Val97Leu					CFTR_uc011knq.1_5'UTR	p.V97L	NM_000492	NP_000483	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		4	421	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		97			Helical; Name=1; (Potential).|ABC transmembrane type-1 1.		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	c.289G>T	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.610495	0.87258	.	.	ENSG00000001626	ENST00000446805;ENST00000003084;ENST00000454343;ENST00000426809	D;D;D;D	0.99680	-6.38;-2.48;-2.48;-2.77	5.73	5.73	0.89815	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.99013	0.9663	L	0.39020	1.185	0.80722	D	1	B	0.29136	0.234	B	0.37943	0.261	D	0.98218	1.0476	10	0.42905	T	0.14	-21.8658	20.263	0.98456	0.0:0.0:1.0:0.0	.	97	P13569	CFTR_HUMAN	L	16;97;97;97	ENSP00000417012:V16L;ENSP00000003084:V97L;ENSP00000403677:V97L;ENSP00000389119:V97L	ENSP00000003084:V97L	V	+	1	0	CFTR	116958204	1.000000	0.71417	0.971000	0.41717	0.945000	0.59286	9.420000	0.97426	2.868000	0.98415	0.555000	0.69702	GTA		0.388	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		10	22	1	0	0.000673444	0.008291	0.000735791	10	22				
CPED1	79974	broad.mit.edu	37	7	120655843	120655843	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:120655843C>A	ENST00000310396.5	+	3	841	c.374C>A	c.(373-375)aCg>aAg	p.T125K	CPED1_ENST00000340646.5_Missense_Mutation_p.T125K|CPED1_ENST00000450913.2_Missense_Mutation_p.T125K|CPED1_ENST00000495036.1_3'UTR	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	125						endoplasmic reticulum (GO:0005783)											CATGGCTATACGGTTGTCATC	0.498																																							uc003vjq.3		NA																	0				ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9						c.(373-375)ACG>AAG		hypothetical protein LOC79974 isoform 1							86.0	68.0	74.0					7																	120655843		2203	4300	6503	SO:0001583	missense	79974					endoplasmic reticulum		g.chr7:120655843C>A		CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.374C>A	7.37:g.120655843C>A	ENSP00000309772:p.Thr125Lys					C7orf58_uc003vjr.1_Missense_Mutation_p.T125K|C7orf58_uc003vjs.3_Missense_Mutation_p.T125K	p.T125K	NM_024913	NP_079189	A4D0V7	CG058_HUMAN			3	821	+	all_neural(327;0.117)		125					A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	SNP	ENST00000310396.5	37	c.374C>A	CCDS34739.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.614144	0.28712	.	.	ENSG00000106034	ENST00000310396;ENST00000428526;ENST00000450913;ENST00000340646	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.84	3.0	0.34707	.	0.628552	0.15590	N	0.254434	T	0.26810	0.0656	L	0.47716	1.5	0.09310	N	1	B;P	0.37352	0.325;0.591	B;B	0.32724	0.151;0.138	T	0.09907	-1.0653	10	0.14252	T	0.57	.	3.884	0.09090	0.1655:0.5753:0.1718:0.0874	.	125;125	A4D0V7-2;A4D0V7	.;CG058_HUMAN	K	125	ENSP00000309772:T125K;ENSP00000398082:T125K;ENSP00000406122:T125K;ENSP00000345235:T125K	ENSP00000309772:T125K	T	+	2	0	C7orf58	120443079	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	0.045000	0.14013	0.762000	0.33152	0.591000	0.81541	ACG		0.498	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913		10	24	1	0	0.000978159	0.000978	0.00106403	10	24				
PTPRZ1	5803	broad.mit.edu	37	7	121652129	121652129	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:121652129C>A	ENST00000393386.2	+	12	3440	c.3029C>A	c.(3028-3030)aCa>aAa	p.T1010K	PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1010					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TTACCTGACACAGATGGGCTG	0.428																																							uc003vjy.2		NA																	0				ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						c.(3028-3030)ACA>AAA		protein tyrosine phosphatase, receptor-type,							117.0	116.0	116.0					7																	121652129		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121652129C>A	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.3029C>A	7.37:g.121652129C>A	ENSP00000377047:p.Thr1010Lys					PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron	p.T1010K	NM_002851	NP_002842	P23471	PTPRZ_HUMAN			12	3424	+			1010			Extracellular (Potential).		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.3029C>A	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.338303	0.41398	.	.	ENSG00000106278	ENST00000393386	T	0.47177	0.85	5.47	5.47	0.80525	.	0.401850	0.25813	N	0.028126	T	0.45478	0.1344	L	0.56769	1.78	0.80722	D	1	P	0.46706	0.883	B	0.40375	0.327	T	0.52495	-0.8568	10	0.87932	D	0	.	12.6435	0.56721	0.0:0.9242:0.0:0.0758	.	1010	P23471	PTPRZ_HUMAN	K	1010	ENSP00000377047:T1010K	ENSP00000377047:T1010K	T	+	2	0	PTPRZ1	121439365	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	4.054000	0.57434	2.562000	0.86427	0.650000	0.86243	ACA		0.428	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		14	67	1	0	9.31168e-06	0.001855	1.10067e-05	14	67				
IQUB	154865	broad.mit.edu	37	7	123092812	123092812	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:123092812C>A	ENST00000466202.1	-	13	2937	c.2361G>T	c.(2359-2361)caG>caT	p.Q787H	IQUB_ENST00000324698.6_Missense_Mutation_p.Q787H	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	787					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						GAGGAGGCCTCTGGGATTCTA	0.408																																							uc003vkn.2		NA																	0				ovary(3)|large_intestine(1)	4						c.(2359-2361)CAG>CAT		IQ motif and ubiquitin domain containing							123.0	117.0	119.0					7																	123092812		2203	4300	6503	SO:0001583	missense	154865							g.chr7:123092812C>A	AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.2361G>T	7.37:g.123092812C>A	ENSP00000417769:p.Gln787His					IQUB_uc011kny.1_Missense_Mutation_p.Q120H|IQUB_uc003vko.2_Missense_Mutation_p.Q787H|IQUB_uc010lkt.2_RNA	p.Q787H	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN			13	2938	-			787					A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Missense_Mutation	SNP	ENST00000466202.1	37	c.2361G>T	CCDS5787.1	.	.	.	.	.	.	.	.	.	.	C	9.398	1.077360	0.20227	.	.	ENSG00000164675	ENST00000466202;ENST00000324698	T;T	0.24723	1.84;1.84	5.66	-5.13	0.02884	.	1.279830	0.05316	N	0.525709	T	0.11153	0.0272	N	0.13043	0.29	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.19289	-1.0310	10	0.27785	T	0.31	.	1.4548	0.02383	0.1931:0.1647:0.1962:0.4459	.	787	Q8NA54	IQUB_HUMAN	H	787	ENSP00000417769:Q787H;ENSP00000324882:Q787H	ENSP00000324882:Q787H	Q	-	3	2	IQUB	122880048	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.268000	0.08607	-1.396000	0.02071	-0.496000	0.04628	CAG		0.408	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827		14	24	1	0	3.27435e-08	0.00245	4.26728e-08	14	24				
CPA4	51200	broad.mit.edu	37	7	129938612	129938612	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:129938612G>A	ENST00000222482.4	+	2	123	c.95G>A	c.(94-96)aGa>aAa	p.R32K	CPA4_ENST00000493259.1_Intron|CPA4_ENST00000445470.2_Missense_Mutation_p.R32K	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	32					histone acetylation (GO:0016573)	extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					ATTAATGTCAGAAATGGAGAC	0.408																																							uc003vpr.2		NA																	0				ovary(1)	1						c.(94-96)AGA>AAA		carboxypeptidase A4 preproprotein							142.0	139.0	140.0					7																	129938612		2203	4300	6503	SO:0001583	missense	51200				histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr7:129938612G>A	AF095719	CCDS5818.1, CCDS55163.1	7q32	2008-07-18			ENSG00000128510	ENSG00000128510			15740	protein-coding gene	gene with protein product	"""carboxypeptidase A3"""	607635				10383164, 10860668	Standard	NM_016352		Approved	CPA3	uc003vpr.3	Q9UI42	OTTHUMG00000157825	ENST00000222482.4:c.95G>A	7.37:g.129938612G>A	ENSP00000222482:p.Arg32Lys					CPA4_uc011kpd.1_Missense_Mutation_p.R32K|CPA4_uc011kpe.1_Intron	p.R32K	NM_016352	NP_057436	Q9UI42	CBPA4_HUMAN			2	142	+	Melanoma(18;0.0435)		32					B7Z576|Q86UY9	Missense_Mutation	SNP	ENST00000222482.4	37	c.95G>A	CCDS5818.1	.	.	.	.	.	.	.	.	.	.	G	7.818	0.717139	0.15372	.	.	ENSG00000128510	ENST00000445470;ENST00000222482;ENST00000492072;ENST00000473956	T;T;T;T	0.12879	2.64;2.64;2.64;2.64	5.74	4.85	0.62838	Proteinase inhibitor, propeptide (1);Proteinase inhibitor, carboxypeptidase propeptide (2);	0.179711	0.51477	D	0.000093	T	0.07279	0.0184	N	0.17800	0.525	0.33855	D	0.633117	B;B	0.09022	0.002;0.001	B;B	0.14023	0.01;0.004	T	0.14448	-1.0472	10	0.02654	T	1	.	10.0041	0.41946	0.0901:0.0:0.9099:0.0	.	32;32	B7Z576;Q9UI42	.;CBPA4_HUMAN	K	32	ENSP00000412947:R32K;ENSP00000222482:R32K;ENSP00000417255:R32K;ENSP00000418392:R32K	ENSP00000222482:R32K	R	+	2	0	CPA4	129725848	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.425000	0.34859	2.873000	0.98535	0.563000	0.77884	AGA		0.408	CPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349725.1	NM_016352		11	30	0	0	0	0.00245	0	11	30				
LRGUK	136332	broad.mit.edu	37	7	133868525	133868525	+	Silent	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:133868525A>T	ENST00000285928.2	+	11	1323	c.1254A>T	c.(1252-1254)atA>atT	p.I418I		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	418	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						CCATGCTGATACTAGCTGGTC	0.488																																							uc003vrm.1		NA																	0				lung(2)|skin(2)|kidney(1)	5						c.(1252-1254)ATA>ATT		leucine-rich repeats and guanylate kinase domain							234.0	198.0	210.0					7																	133868525		2203	4300	6503	SO:0001819	synonymous_variant	136332						ATP binding|kinase activity	g.chr7:133868525A>T	AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.1254A>T	7.37:g.133868525A>T							p.I418I	NM_144648	NP_653249	Q96M69	LRGUK_HUMAN			11	1270	+			418			Guanylate kinase-like.		Q2M3I1	Silent	SNP	ENST00000285928.2	37	c.1254A>T	CCDS5830.1																																																																																				0.488	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1	NM_144648		45	113	0	0	0	0.00361	0	45	113				
CHRM2	1129	broad.mit.edu	37	7	136700111	136700111	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:136700111G>T	ENST00000445907.2	+	3	1027	c.499G>T	c.(499-501)Ggg>Tgg	p.G167W	CHRM2_ENST00000402486.3_Missense_Mutation_p.G167W|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.G167W|hsa-mir-490_ENST00000586239.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.G167W|CHRM2_ENST00000453373.1_Missense_Mutation_p.G167W|hsa-mir-490_ENST00000597642.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.G167W|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000439694.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	167					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GTTCATTGTAGGGGTGAGAAC	0.498																																							uc003vtf.1		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(499-501)GGG>TGG		cholinergic receptor, muscarinic 2	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)						107.0	103.0	104.0					7																	136700111		2203	4299	6502	SO:0001583	missense	1129				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	g.chr7:136700111G>T		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.499G>T	7.37:g.136700111G>T	ENSP00000399745:p.Gly167Trp					CHRM2_uc003vtg.1_Missense_Mutation_p.G167W|CHRM2_uc003vtj.1_Missense_Mutation_p.G167W|CHRM2_uc003vtk.1_Missense_Mutation_p.G167W|CHRM2_uc003vtl.1_Missense_Mutation_p.G167W|CHRM2_uc003vtm.1_Missense_Mutation_p.G167W|CHRM2_uc003vti.1_Missense_Mutation_p.G167W|CHRM2_uc003vto.1_Missense_Mutation_p.G167W|CHRM2_uc003vtn.1_Missense_Mutation_p.G167W|uc003vtp.1_Intron	p.G167W	NM_001006630	NP_001006631	P08172	ACM2_HUMAN			4	1122	+			167			Extracellular (By similarity).		Q4VBK6|Q9P1X9	Missense_Mutation	SNP	ENST00000445907.2	37	c.499G>T	CCDS5843.1	.	.	.	.	.	.	.	.	.	.	G	19.24	3.788678	0.70337	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66;-0.66	5.57	5.57	0.84162	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.88829	0.6543	M	0.93939	3.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90767	0.4669	10	0.59425	D	0.04	-18.3083	19.5581	0.95361	0.0:0.0:1.0:0.0	.	167	P08172	ACM2_HUMAN	W	167	ENSP00000399745:G167W;ENSP00000415386:G167W;ENSP00000319984:G167W;ENSP00000380733:G167W;ENSP00000384937:G167W;ENSP00000384401:G167W	ENSP00000319984:G167W	G	+	1	0	CHRM2	136350651	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	9.807000	0.99171	2.614000	0.88457	0.655000	0.94253	GGG		0.498	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			43	97	1	0	3.68337e-26	0.00361	6.45893e-26	43	97				
CHRM2	1129	broad.mit.edu	37	7	136700860	136700860	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:136700860C>A	ENST00000445907.2	+	3	1776	c.1248C>A	c.(1246-1248)tgC>tgA	p.C416*	CHRM2_ENST00000402486.3_Nonsense_Mutation_p.C416*|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000401861.1_Nonsense_Mutation_p.C416*|hsa-mir-490_ENST00000586239.1_RNA|CHRM2_ENST00000320658.5_Nonsense_Mutation_p.C416*|CHRM2_ENST00000453373.1_Nonsense_Mutation_p.C416*|hsa-mir-490_ENST00000597642.1_RNA|CHRM2_ENST00000397608.3_Nonsense_Mutation_p.C416*|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000439694.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	416					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GTGCACCTTGCATCCCCAACA	0.458																																							uc003vtf.1		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(1246-1248)TGC>TGA		cholinergic receptor, muscarinic 2	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)						266.0	216.0	233.0					7																	136700860		2203	4300	6503	SO:0001587	stop_gained	1129				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	g.chr7:136700860C>A		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.1248C>A	7.37:g.136700860C>A	ENSP00000399745:p.Cys416*					CHRM2_uc003vtg.1_Nonsense_Mutation_p.C416*|CHRM2_uc003vtj.1_Nonsense_Mutation_p.C416*|CHRM2_uc003vtk.1_Nonsense_Mutation_p.C416*|CHRM2_uc003vtl.1_Nonsense_Mutation_p.C416*|CHRM2_uc003vtm.1_Nonsense_Mutation_p.C416*|CHRM2_uc003vti.1_Nonsense_Mutation_p.C416*|CHRM2_uc003vto.1_Nonsense_Mutation_p.C416*|CHRM2_uc003vtn.1_Nonsense_Mutation_p.C416*|uc003vtp.1_Intron	p.C416*	NM_001006630	NP_001006631	P08172	ACM2_HUMAN			4	1871	+			416			Extracellular (By similarity).		Q4VBK6|Q9P1X9	Nonsense_Mutation	SNP	ENST00000445907.2	37	c.1248C>A	CCDS5843.1	.	.	.	.	.	.	.	.	.	.	C	34	5.349804	0.95830	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	.	.	.	5.91	2.56	0.30785	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.6772	11.6761	0.51430	0.0:0.7188:0.0:0.2812	.	.	.	.	X	416	.	ENSP00000319984:C416X	C	+	3	2	CHRM2	136351400	0.998000	0.40836	1.000000	0.80357	0.982000	0.71751	0.689000	0.25437	0.765000	0.33221	0.655000	0.94253	TGC		0.458	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			55	109	1	0	2.36135e-34	0.00361	4.2665e-34	55	109				
DGKI	9162	broad.mit.edu	37	7	137150701	137150701	+	Silent	SNP	C	C	T	rs369035094		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:137150701C>T	ENST00000288490.5	-	27	2589	c.2589G>A	c.(2587-2589)gcG>gcA	p.A863A	DGKI_ENST00000453654.2_Silent_p.A573A|DGKI_ENST00000446122.1_Silent_p.A845A|DGKI_ENST00000424189.2_Silent_p.A876A	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	863					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						GAGGTGTCCCCGCCGGCTGTG	0.532																																							uc003vtt.2		NA																	0				ovary(1)|kidney(1)|skin(1)	3						c.(2587-2589)GCG>GCA		diacylglycerol kinase, iota		C		0,4406		0,0,2203	66.0	66.0	66.0		2589	-10.6	0.2	7		66	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DGKI	NM_004717.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		863/1066	137150701	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137150701C>T	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.2589G>A	7.37:g.137150701C>T						DGKI_uc003vtu.2_Silent_p.A573A	p.A863A	NM_004717	NP_004708	O75912	DGKI_HUMAN			27	2590	-			863					A4D1Q9|Q9NZ49	Silent	SNP	ENST00000288490.5	37	c.2589G>A	CCDS5845.1																																																																																				0.532	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		13	45	0	0	0	0.00245	0	13	45				
TRIM24	8805	broad.mit.edu	37	7	138264263	138264263	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:138264263G>C	ENST00000343526.4	+	15	2786	c.2571G>C	c.(2569-2571)ttG>ttC	p.L857F	TRIM24_ENST00000415680.2_Missense_Mutation_p.L823F			O15164	TIF1A_HUMAN	tripartite motif containing 24	857					calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						TGCCCACATTGACAAATTTTC	0.388																																					Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)	Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)	uc003vuc.2		NA																	0				central_nervous_system(3)|ovary(2)|stomach(1)|breast(1)|skin(1)	8						c.(2569-2571)TTG>TTC		transcriptional intermediary factor 1 alpha							70.0	72.0	72.0					7																	138264263		2203	4300	6503	SO:0001583	missense	8805				cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:138264263G>C	AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	11812	protein-coding gene	gene with protein product		603406	"""transcriptional intermediary factor 1"", ""tripartite motif-containing 24"""	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.2571G>C	7.37:g.138264263G>C	ENSP00000340507:p.Leu857Phe					TRIM24_uc003vub.2_Missense_Mutation_p.L823F	p.L857F	NM_015905	NP_056989	O15164	TIF1A_HUMAN			15	2786	+			857			PHD-type.		A4D1R7|A4D1R8|O95854	Missense_Mutation	SNP	ENST00000343526.4	37	c.2571G>C	CCDS5847.1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.149830	0.57151	.	.	ENSG00000122779	ENST00000343526;ENST00000536822;ENST00000415680	D;T	0.85629	-2.01;0.46	5.77	3.86	0.44501	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.064031	0.64402	D	0.000020	D	0.93135	0.7814	M	0.92367	3.3	0.42041	D	0.991076	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.93903	0.7190	10	0.87932	D	0	-11.1665	10.5555	0.45114	0.0711:0.2265:0.7024:0.0	.	857;823	O15164;O15164-2	TIF1A_HUMAN;.	F	857;768;823	ENSP00000340507:L857F;ENSP00000390829:L823F	ENSP00000340507:L857F	L	+	3	2	TRIM24	137914803	0.981000	0.34729	0.867000	0.34043	0.993000	0.82548	0.350000	0.20079	1.458000	0.47871	0.650000	0.86243	TTG		0.388	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341814.1	NM_015905		17	37	0	0	0	0.001882	0	17	37				
SVOPL	136306	broad.mit.edu	37	7	138305866	138305866	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:138305866C>A	ENST00000419765.3	-	13	1311	c.1278G>T	c.(1276-1278)acG>acT	p.T426T	SVOPL_ENST00000288513.5_Silent_p.T274T|SVOPL_ENST00000463557.1_Intron|SVOPL_ENST00000421622.1_Silent_p.T306T|SVOPL_ENST00000436657.1_Silent_p.T274T	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like	426						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						AAGCGCGCATCGTGGTGGGGT	0.602																																							uc011kqh.1		NA																	0					0						c.(1276-1278)ACG>ACT		SVOP-like isoform 1							60.0	47.0	51.0					7																	138305866		2203	4300	6503	SO:0001819	synonymous_variant	136306					integral to membrane	transmembrane transporter activity	g.chr7:138305866C>A	BC036796	CCDS5848.1, CCDS47721.1	7q34	2011-07-12	2007-04-04		ENSG00000157703	ENSG00000157703			27034	protein-coding gene	gene with protein product		611700	"""SV2 related protein homolog (rat)-like"""				Standard	NM_001139456		Approved	MGC46715	uc011kqh.2	Q8N434	OTTHUMG00000155870	ENST00000419765.3:c.1278G>T	7.37:g.138305866C>A						SVOPL_uc003vue.2_Silent_p.T274T	p.T426T	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN			13	1278	-			426						Silent	SNP	ENST00000419765.3	37	c.1278G>T	CCDS47721.1																																																																																				0.602	SVOPL-005	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342092.4	NM_174959		8	40	1	0	2.80697e-09	0.000978	3.77735e-09	8	40				
ZC3HAV1L	92092	broad.mit.edu	37	7	138713461	138713461	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:138713461C>T	ENST00000275766.1	-	3	758	c.747G>A	c.(745-747)atG>atA	p.M249I		NM_080660.3	NP_542391.2	Q96H79	ZCCHL_HUMAN	zinc finger CCCH-type, antiviral 1-like	249										NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1)	10						TATTTTCAAGCATCTTGTGCA	0.398																																							uc003vum.1		NA																	0					0						c.(745-747)ATG>ATA		zinc finger CCCH-type, antiviral 1-like							103.0	101.0	102.0					7																	138713461		2203	4300	6503	SO:0001583	missense	92092							g.chr7:138713461C>T	BC008842	CCDS5850.1	7q34	2006-07-03	2006-07-03	2006-07-03	ENSG00000146858	ENSG00000146858			22423	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 39"""	C7orf39			Standard	NM_080660		Approved	MGC14289	uc003vum.1	Q96H79	OTTHUMG00000157229	ENST00000275766.1:c.747G>A	7.37:g.138713461C>T	ENSP00000275766:p.Met249Ile						p.M249I	NM_080660	NP_542391	Q96H79	ZCCHL_HUMAN			3	759	-			249					Q8WUD9	Missense_Mutation	SNP	ENST00000275766.1	37	c.747G>A	CCDS5850.1	.	.	.	.	.	.	.	.	.	.	C	11.79	1.743383	0.30865	.	.	ENSG00000146858	ENST00000275766	T	0.29655	1.56	5.62	4.69	0.59074	.	0.354699	0.25222	N	0.032222	T	0.22003	0.0530	L	0.27053	0.805	0.27341	N	0.956498	B	0.24426	0.103	B	0.25140	0.058	T	0.08330	-1.0727	10	0.37606	T	0.19	.	11.4508	0.50151	0.0:0.7719:0.2281:0.0	.	249	Q96H79	ZCCHL_HUMAN	I	249	ENSP00000275766:M249I	ENSP00000275766:M249I	M	-	3	0	ZC3HAV1L	138364001	0.166000	0.22962	0.976000	0.42696	0.874000	0.50279	1.093000	0.30939	2.816000	0.96949	0.650000	0.86243	ATG		0.398	ZC3HAV1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348090.1	NM_080660		17	86	0	0	0	0.001882	0	17	86				
TBXAS1	6916	broad.mit.edu	37	7	139655362	139655362	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:139655362G>A	ENST00000336425.5	+	11	1033	c.644G>A	c.(643-645)cGt>cAt	p.R215H	TBXAS1_ENST00000458722.1_Missense_Mutation_p.R261H|TBXAS1_ENST00000263552.6_Missense_Mutation_p.R216H|TBXAS1_ENST00000414508.2_Missense_Mutation_p.R216H|TBXAS1_ENST00000416849.2_Missense_Mutation_p.R262H|TBXAS1_ENST00000436047.2_Missense_Mutation_p.R216H|TBXAS1_ENST00000448866.1_Missense_Mutation_p.R215H|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000411653.1_Missense_Mutation_p.R215H|TBXAS1_ENST00000425687.1_Missense_Mutation_p.R148H			P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	215					arachidonic acid metabolic process (GO:0019369)|cellular chloride ion homeostasis (GO:0030644)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|positive regulation of vasoconstriction (GO:0045907)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|thromboxane-A synthase activity (GO:0004796)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)				Ridogrel(DB01207)|Sulfasalazine(DB00795)	CACTGCAAGCGTTTCTTCGAA	0.577																																							uc011kqv.1		NA																	0				ovary(2)|breast(1)	3						c.(784-786)CGT>CAT		thromboxane A synthase 1, platelet isoform							74.0	80.0	78.0					7																	139655362		2203	4300	6503	SO:0001583	missense	6916				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity	g.chr7:139655362G>A	L36085	CCDS5855.1, CCDS5856.1, CCDS55174.1, CCDS55175.1	7q34-q35	2014-09-17	2008-07-31		ENSG00000059377	ENSG00000059377	5.3.99.5	"""Cytochrome P450s"""	11609	protein-coding gene	gene with protein product	"""cytochrome P450, family 5, subfamily A, polypeptide 1"""	274180	"""thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)"""			1714723, 8964509	Standard	NM_001061		Approved	CYP5, CYP5A1, THAS, TXS, TXAS, TS	uc011kqv.2	P24557	OTTHUMG00000157302	ENST00000336425.5:c.644G>A	7.37:g.139655362G>A	ENSP00000338087:p.Arg215His					TBXAS1_uc003vvh.2_Missense_Mutation_p.R216H|TBXAS1_uc010lne.2_Missense_Mutation_p.R148H|TBXAS1_uc011kqu.1_Missense_Mutation_p.R167H|TBXAS1_uc003vvi.2_Missense_Mutation_p.R216H|TBXAS1_uc003vvj.2_Missense_Mutation_p.R216H|TBXAS1_uc011kqw.1_Missense_Mutation_p.R196H	p.R262H	NM_001130966	NP_001124438	P24557	THAS_HUMAN			8	949	+	Melanoma(164;0.0142)		215			Cytoplasmic (Potential).		B4DJG6|E7EMU9|E7EP08|E7ESB5|O14987|Q16843|Q16844|Q8IUN1|Q96CN2|Q9GZW4|Q9HD77|Q9HD78|Q9HD79|Q9HD80|Q9HD81|Q9HD82|Q9HD83|Q9HD84	Missense_Mutation	SNP	ENST00000336425.5	37	c.785G>A		.	.	.	.	.	.	.	.	.	.	G	15.55	2.865374	0.51588	.	.	ENSG00000059377	ENST00000425687;ENST00000263552;ENST00000336425;ENST00000416849;ENST00000436047;ENST00000414508;ENST00000448866;ENST00000458722;ENST00000411653	T;T;T;T;T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29	5.91	5.91	0.95273	.	0.317652	0.35436	N	0.003201	T	0.80014	0.4546	M	0.80616	2.505	0.44194	D	0.997014	D;D;P;D;D;P;P	0.67145	0.984;0.993;0.825;0.996;0.995;0.825;0.825	P;D;B;P;P;B;B	0.63192	0.9;0.912;0.309;0.835;0.89;0.309;0.233	T	0.81959	-0.0694	10	0.72032	D	0.01	.	12.1224	0.53900	0.0:0.1363:0.7377:0.126	.	196;262;167;148;216;216;215	B4DVP1;E7EP08;B4E0M5;E7ESB5;E7EMU9;Q53F23;P24557	.;.;.;.;.;.;THAS_HUMAN	H	148;216;215;262;216;216;215;261;215	ENSP00000388736:R148H;ENSP00000263552:R216H;ENSP00000338087:R215H;ENSP00000389414:R262H;ENSP00000392361:R216H;ENSP00000392702:R216H;ENSP00000402536:R215H;ENSP00000411274:R261H;ENSP00000411326:R215H	ENSP00000263552:R216H	R	+	2	0	TBXAS1	139301831	0.025000	0.19082	0.864000	0.33941	0.706000	0.40770	1.886000	0.39688	2.793000	0.96121	0.655000	0.94253	CGT		0.577	TBXAS1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000348373.1			12	49	0	0	0	0.003163	0	12	49				
DENND2A	27147	broad.mit.edu	37	7	140221738	140221738	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:140221738C>T	ENST00000275884.6	-	17	3245	c.2828G>A	c.(2827-2829)cGc>cAc	p.R943H	DENND2A_ENST00000496613.1_Missense_Mutation_p.R943H|DENND2A_ENST00000537639.1_Missense_Mutation_p.R943H			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	943	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CAGGAAGTGGCGGAGGCTCTT	0.602																																							uc010lnj.2		NA																	0				ovary(3)|breast(1)	4						c.(2827-2829)CGC>CAC		DENN/MADD domain containing 2A							33.0	38.0	36.0					7																	140221738		2018	4214	6232	SO:0001583	missense	27147							g.chr7:140221738C>T	AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.2828G>A	7.37:g.140221738C>T	ENSP00000275884:p.Arg943His					DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.R943H|DENND2A_uc003vvw.2_Missense_Mutation_p.R943H	p.R943H	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN			16	2973	-	Melanoma(164;0.00956)		943			dDENN.		C9JUI3|Q1RMD5|Q86XY0	Missense_Mutation	SNP	ENST00000275884.6	37	c.2828G>A	CCDS43659.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.777233	0.90195	.	.	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613	T;T;T	0.49139	0.79;0.79;0.79	4.63	4.63	0.57726	dDENN (3);	0.070287	0.56097	D	0.000035	T	0.72953	0.3525	M	0.86343	2.81	0.52099	D	0.999943	D	0.89917	1.0	D	0.79108	0.992	T	0.78038	-0.2360	10	0.54805	T	0.06	-19.5541	17.6977	0.88286	0.0:1.0:0.0:0.0	.	943	Q9ULE3	DEN2A_HUMAN	H	943	ENSP00000275884:R943H;ENSP00000442245:R943H;ENSP00000419654:R943H	ENSP00000275884:R943H	R	-	2	0	DENND2A	139868207	0.998000	0.40836	1.000000	0.80357	0.968000	0.65278	4.387000	0.59626	2.398000	0.81561	0.557000	0.71058	CGC		0.602	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689		6	33	0	0	0	0.001984	0	6	33				
DENND2A	27147	broad.mit.edu	37	7	140285455	140285455	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:140285455C>A	ENST00000275884.6	-	4	1596	c.1179G>T	c.(1177-1179)ctG>ctT	p.L393L	DENND2A_ENST00000492720.1_Silent_p.L393L|DENND2A_ENST00000496613.1_Silent_p.L393L|DENND2A_ENST00000537639.1_Silent_p.L393L			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	393					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					ACTTCTTTCCCAGGCAGCGAC	0.522																																							uc010lnj.2		NA																	0				ovary(3)|breast(1)	4						c.(1177-1179)CTG>CTT		DENN/MADD domain containing 2A							180.0	178.0	179.0					7																	140285455		1978	4172	6150	SO:0001819	synonymous_variant	27147							g.chr7:140285455C>A	AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.1179G>T	7.37:g.140285455C>A						DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Silent_p.L393L|DENND2A_uc003vvw.2_Silent_p.L393L|DENND2A_uc003vvx.2_Silent_p.L393L	p.L393L	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN			3	1324	-	Melanoma(164;0.00956)		393					C9JUI3|Q1RMD5|Q86XY0	Silent	SNP	ENST00000275884.6	37	c.1179G>T	CCDS43659.1																																																																																				0.522	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689		35	103	1	0	9.73076e-26	0.006999	1.69632e-25	35	103				
OR9A4	130075	broad.mit.edu	37	7	141619410	141619410	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:141619410C>A	ENST00000548136.1	+	1	794	c.735C>A	c.(733-735)ttC>ttA	p.F245L	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	245						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					CCTCCCACTTCACCTGTGTTG	0.502																																							uc003vwu.1		NA																	0				skin(1)	1						c.(733-735)TTC>TTA		olfactory receptor, family 9, subfamily A,							87.0	90.0	89.0					7																	141619410		2203	4300	6503	SO:0001583	missense	130075				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:141619410C>A		CCDS43661.1	7q34	2012-10-03			ENSG00000258083	ENSG00000258083		"""GPCR / Class A : Olfactory receptors"""	15095	protein-coding gene	gene with protein product							Standard	NM_001001656		Approved		uc003vwu.1	Q8NGU2	OTTHUMG00000158370	ENST00000548136.1:c.735C>A	7.37:g.141619410C>A	ENSP00000448789:p.Phe245Leu						p.F245L	NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN			1	735	+	Melanoma(164;0.0171)		245			Helical; Name=6; (Potential).		B9EGV6|Q6IFI4	Missense_Mutation	SNP	ENST00000548136.1	37	c.735C>A	CCDS43661.1	.	.	.	.	.	.	.	.	.	.	C	1.082	-0.666630	0.03428	.	.	ENSG00000258083	ENST00000548136	T	0.26810	1.71	3.8	2.91	0.33838	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.08626	0.0214	N	0.01168	-0.975	0.25228	N	0.989859	B	0.06786	0.001	B	0.09377	0.004	T	0.24870	-1.0148	9	0.35671	T	0.21	-27.9084	6.2558	0.20874	0.0:0.7707:0.0:0.2292	.	245	Q8NGU2	OR9A4_HUMAN	L	245	ENSP00000448789:F245L	ENSP00000386148:F245L	F	+	3	2	OR9A4	141265879	0.006000	0.16342	0.999000	0.59377	0.799000	0.45148	-0.089000	0.11180	0.940000	0.37473	-0.150000	0.13652	TTC		0.502	OR9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350806.3	NM_001001656		14	41	1	0	0.000308642	0.003163	0.000341227	14	41				
MGAM	8972	broad.mit.edu	37	7	141719069	141719069	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:141719069C>T	ENST00000549489.2	+	4	493	c.398C>T	c.(397-399)tCc>tTc	p.S133F	MGAM_ENST00000475668.2_Missense_Mutation_p.S133F	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	133	P-type 1. {ECO:0000255|PROSITE- ProRule:PRU00779}.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGCTACTATTCCAAGAATCAT	0.512																																							uc003vwy.2		NA																	0				ovary(2)	2						c.(397-399)TCC>TTC		maltase-glucoamylase	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						92.0	96.0	95.0					7																	141719069		2016	4182	6198	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141719069C>T	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.398C>T	7.37:g.141719069C>T	ENSP00000447378:p.Ser133Phe						p.S133F	NM_004668	NP_004659	O43451	MGA_HUMAN			4	452	+	Melanoma(164;0.0272)		133			P-type 1.|Lumenal (Potential).		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.398C>T	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.322453	0.81580	.	.	ENSG00000257335	ENST00000465654;ENST00000549489;ENST00000497673;ENST00000475668;ENST00000548812	T;D;T	0.85861	-0.82;-2.04;0.57	4.74	4.74	0.60224	Glycoside hydrolase-type carbohydrate-binding (1);P-type trefoil (3);	0.000000	0.45361	D	0.000362	D	0.82783	0.5112	M	0.71036	2.16	0.39746	D	0.971819	P	0.39624	0.681	B	0.31946	0.138	D	0.86615	0.1875	10	0.66056	D	0.02	.	15.5884	0.76506	0.0:1.0:0.0:0.0	.	133	O43451	MGA_HUMAN	F	133;133;133;133;10	ENSP00000419372:S133F;ENSP00000447378:S133F;ENSP00000417103:S133F	ENSP00000316431:S10F	S	+	2	0	MGAM	141365538	0.997000	0.39634	1.000000	0.80357	0.763000	0.43281	6.843000	0.75384	2.623000	0.88846	0.514000	0.50259	TCC		0.512	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			22	44	0	0	0	0.00278	0	22	44				
EPHB6	2051	broad.mit.edu	37	7	142561857	142561857	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:142561857C>A	ENST00000392957.2	+	7	1086	c.299C>A	c.(298-300)gCc>gAc	p.A100D	EPHB6_ENST00000442129.1_Missense_Mutation_p.A100D|EPHB6_ENST00000411471.2_Intron	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	100	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CGGCGCGGGGCCCAGAGGGCG	0.647																																							uc011kst.1		NA																	0				lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19						c.(298-300)GCC>GAC		ephrin receptor EphB6 precursor							88.0	100.0	96.0					7																	142561857		2203	4300	6503	SO:0001583	missense	2051					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142561857C>A	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.299C>A	7.37:g.142561857C>A	ENSP00000376684:p.Ala100Asp					EPHB6_uc011ksu.1_Missense_Mutation_p.A100D|EPHB6_uc003wbs.2_5'UTR|EPHB6_uc003wbt.2_5'UTR|EPHB6_uc003wbu.2_5'UTR	p.A100D	NM_004445	NP_004436	O15197	EPHB6_HUMAN			7	1086	+	Melanoma(164;0.059)		100			Extracellular (Potential).		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	ENST00000392957.2	37	c.299C>A	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	C	14.37	2.515278	0.44763	.	.	ENSG00000106123	ENST00000392957;ENST00000442129	T;T	0.05513	3.43;3.43	5.6	5.6	0.85130	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.44902	D	0.000408	T	0.29321	0.0730	M	0.88181	2.935	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.03077	-1.1075	10	0.87932	D	0	.	11.9948	0.53196	0.0:0.9213:0.0:0.0787	.	100	O15197	EPHB6_HUMAN	D	100	ENSP00000376684:A100D;ENSP00000410789:A100D	ENSP00000376684:A100D	A	+	2	0	EPHB6	142271979	0.024000	0.19004	0.293000	0.24932	0.022000	0.10575	0.360000	0.20250	2.640000	0.89533	0.655000	0.94253	GCC		0.647	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			58	163	1	0	1.05635e-38	0.00361	1.92972e-38	58	163				
TRPV6	55503	broad.mit.edu	37	7	142574532	142574532	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:142574532G>A	ENST00000359396.3	-	5	791	c.546C>T	c.(544-546)ctC>ctT	p.L182L	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	182					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CATGCTCAATGAGCAGCCGCA	0.597																																							uc003wbx.1		NA																	0				ovary(2)	2						c.(544-546)CTC>CTT		transient receptor potential cation channel,							102.0	88.0	93.0					7																	142574532		2203	4300	6503	SO:0001819	synonymous_variant	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142574532G>A	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.546C>T	7.37:g.142574532G>A						TRPV6_uc003wbw.1_5'Flank|TRPV6_uc010lou.1_Silent_p.L53L	p.L182L	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN			5	762	-	Melanoma(164;0.059)		182			ANK 4.|Cytoplasmic (Potential).		A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Silent	SNP	ENST00000359396.3	37	c.546C>T	CCDS5874.1																																																																																				0.597	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274		44	56	0	0	0	0.00361	0	44	56				
OR9A2	135924	broad.mit.edu	37	7	142724168	142724168	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:142724168C>A	ENST00000350513.2	-	1	114	c.52G>T	c.(52-54)Ggg>Tgg	p.G18W		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	18						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					CCTTGGGACCCAGGGAAGCCT	0.413																																							uc003wcc.1		NA																	0				skin(1)	1						c.(52-54)GGG>TGG		olfactory receptor, family 9, subfamily A,							76.0	74.0	75.0					7																	142724168		2203	4300	6503	SO:0001583	missense	135924				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:142724168C>A		CCDS34767.1	7q34	2014-07-10			ENSG00000179468	ENSG00000179468		"""GPCR / Class A : Olfactory receptors"""	15093	protein-coding gene	gene with protein product							Standard	NM_001001658		Approved		uc003wcc.1	Q8NGT5	OTTHUMG00000158386	ENST00000350513.2:c.52G>T	7.37:g.142724168C>A	ENSP00000316518:p.Gly18Trp						p.G18W	NM_001001658	NP_001001658	Q8NGT5	OR9A2_HUMAN			1	52	-	Melanoma(164;0.059)		18			Extracellular (Potential).		B9EH51|Q6IF71|Q8NGD9	Missense_Mutation	SNP	ENST00000350513.2	37	c.52G>T	CCDS34767.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.239036	0.22711	.	.	ENSG00000179468	ENST00000350513	T	0.00441	7.41	4.31	2.49	0.30216	.	0.508110	0.14456	U	0.318500	T	0.01287	0.0042	M	0.88640	2.97	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.34800	-0.9814	10	0.87932	D	0	-10.2718	8.5685	0.33554	0.0:0.8065:0.0:0.1935	.	18	Q8NGT5	OR9A2_HUMAN	W	18	ENSP00000316518:G18W	ENSP00000316518:G18W	G	-	1	0	OR9A2	142434290	0.000000	0.05858	0.108000	0.21378	0.168000	0.22595	0.184000	0.16939	0.563000	0.29222	0.555000	0.69702	GGG		0.413	OR9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350862.1			18	29	1	0	8.04996e-18	0.001882	1.30823e-17	18	29				
FAM115C	285966	broad.mit.edu	37	7	143417194	143417194	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:143417194C>A	ENST00000441159.2	+	3	1108	c.1042C>A	c.(1042-1044)Cag>Aag	p.Q348K	FAM115C_ENST00000425618.2_Missense_Mutation_p.Q67K|FAM115C_ENST00000409703.3_Missense_Mutation_p.Q184K|FAM115C_ENST00000411497.2_Missense_Mutation_p.Q67K|FAM115C_ENST00000444908.2_Missense_Mutation_p.Q348K|FAM115C_ENST00000411935.1_Missense_Mutation_p.Q184K|FAM115C_ENST00000357344.4_Missense_Mutation_p.Q348K			A6NFQ2	F115C_HUMAN	family with sequence similarity 115, member C	348					hematopoietic progenitor cell differentiation (GO:0002244)					endometrium(2)|large_intestine(4)|lung(2)|prostate(1)	9						TAAGCAGCTGCAGGAGTTTGT	0.632																																							uc003wdf.2		NA																	0					0						c.(1042-1044)CAG>AAG		hypothetical protein LOC285966 isoform A							42.0	44.0	44.0					7																	143417194		2142	4284	6426	SO:0001583	missense	285966							g.chr7:143417194C>A	AY167570	CCDS34769.1, CCDS47735.1, CCDS47735.2	7q35	2010-08-03	2008-06-12	2008-06-12	ENSG00000170379	ENSG00000170379			26878	protein-coding gene	gene with protein product			"""family with sequence similarity 139, member A"""	FAM139A			Standard	NM_173678		Approved	FLJ40722	uc003wdf.3	A6NFQ2	OTTHUMG00000153232	ENST00000441159.2:c.1042C>A	7.37:g.143417194C>A	ENSP00000404265:p.Gln348Lys					FAM115C_uc003wdg.2_Missense_Mutation_p.Q67K|FAM115C_uc011ktk.1_Missense_Mutation_p.Q348K|FAM115C_uc003wdh.2_Missense_Mutation_p.Q348K|FAM115C_uc011ktm.1_Missense_Mutation_p.Q348K|uc011ktn.1_Intron|uc011kto.1_Intron|uc011ktp.1_Intron|LOC154761_uc011ktq.1_Intron|LOC154761_uc011ktr.1_Intron|LOC154761_uc011kts.1_Intron|FAM115C_uc011ktt.1_Missense_Mutation_p.Q184K|FAM115C_uc003wdi.1_Missense_Mutation_p.Q67K	p.Q348K	NM_001130025	NP_001123497	A6NFQ2	F115C_HUMAN			3	1125	+			348					B4DK02|Q14D25|Q17RQ4|Q8IWQ0|Q8NF84	Missense_Mutation	SNP	ENST00000441159.2	37	c.1042C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	14.47|14.47	2.544886|2.544886	0.45280|0.45280	.|.	.|.	ENSG00000170379|ENSG00000170379	ENST00000518791|ENST00000444908;ENST00000411497;ENST00000357344;ENST00000441159;ENST00000411935;ENST00000409703;ENST00000425618	.|T;T;T;T;T;T;T	.|0.20881	.|2.04;2.04;2.04;2.04;2.04;2.04;2.04	3.43|3.43	2.51|2.51	0.30379|0.30379	.|.	.|0.292176	.|0.39759	.|N	.|0.001274	T|T	0.22282|0.22282	0.0537|0.0537	M|M	0.76002|0.76002	2.32|2.32	0.39204|0.39204	D|D	0.963198|0.963198	.|P;B;B;B	.|0.40660	.|0.726;0.129;0.126;0.203	.|B;B;B;B	.|0.37650	.|0.255;0.027;0.033;0.06	T|T	0.10590|0.10590	-1.0623|-1.0623	5|10	.|0.22109	.|T	.|0.4	-6.4764|-6.4764	10.8545|10.8545	0.46792|0.46792	0.0:0.8052:0.1948:0.0|0.0:0.8052:0.1948:0.0	.|.	.|184;348;67;348	.|A6NFQ2-3;A6NFQ2;Q8N1I1;A6NFQ2-2	.|.;F115C_HUMAN;.;.	E|K	162|348;67;348;348;184;184;67	.|ENSP00000412724:Q348K;ENSP00000390603:Q67K;ENSP00000349902:Q348K;ENSP00000404265:Q348K;ENSP00000389100:Q184K;ENSP00000386405:Q184K;ENSP00000441099:Q67K	.|ENSP00000349902:Q348K	A|Q	+|+	2|1	0|0	FAM115C|FAM115C	143048127|143048127	1.000000|1.000000	0.71417|0.71417	0.618000|0.618000	0.29105|0.29105	0.836000|0.836000	0.47400|0.47400	7.458000|7.458000	0.80787|0.80787	0.697000|0.697000	0.31718|0.31718	0.411000|0.411000	0.27672|0.27672	GCA|CAG		0.632	FAM115C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000330287.1	NM_173678		20	82	1	0	1.55795e-14	0.001882	2.38095e-14	20	82				
OR6B1	135946	broad.mit.edu	37	7	143701462	143701462	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:143701462G>T	ENST00000408922.2	+	1	441	c.373G>T	c.(373-375)Gcc>Tcc	p.A125S		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	125						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(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					CCGGTATGTGGCCATCTGTCG	0.537																																							uc003wdt.1		NA																	0				ovary(1)	1						c.(373-375)GCC>TCC		olfactory receptor, family 6, subfamily B,							98.0	101.0	100.0					7																	143701462		2165	4288	6453	SO:0001583	missense	135946				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143701462G>T		CCDS43667.1	7q33-q35	2012-08-09			ENSG00000221813	ENSG00000221813		"""GPCR / Class A : Olfactory receptors"""	8354	protein-coding gene	gene with protein product							Standard	NM_001005281		Approved	OR7-3	uc003wdt.1	O95007	OTTHUMG00000157765	ENST00000408922.2:c.373G>T	7.37:g.143701462G>T	ENSP00000386151:p.Ala125Ser						p.A125S	NM_001005281	NP_001005281	O95007	OR6B1_HUMAN			1	373	+	Melanoma(164;0.0783)		125			Cytoplasmic (Potential).		A4D2G2|B9EH47|Q6IFP6|Q96R38	Missense_Mutation	SNP	ENST00000408922.2	37	c.373G>T	CCDS43667.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.534636	0.85812	.	.	ENSG00000221813	ENST00000408922	T	0.01209	5.17	5.14	5.14	0.70334	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36665	U	0.002473	T	0.12860	0.0312	H	0.97758	4.07	0.50039	D	0.99984	D	0.56035	0.974	D	0.66979	0.948	T	0.01630	-1.1308	10	0.87932	D	0	.	16.1397	0.81513	0.0:0.0:1.0:0.0	.	125	O95007	OR6B1_HUMAN	S	125	ENSP00000386151:A125S	ENSP00000386151:A125S	A	+	1	0	OR6B1	143332395	1.000000	0.71417	1.000000	0.80357	0.615000	0.37417	5.456000	0.66665	2.671000	0.90904	0.563000	0.77884	GCC		0.537	OR6B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349566.1			20	72	1	0	1.01871e-10	0.008871	1.42505e-10	20	72				
OR2A2	442361	broad.mit.edu	37	7	143807247	143807247	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:143807247C>T	ENST00000408979.2	+	1	641	c.572C>T	c.(571-573)aCc>aTc	p.T191I		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	191						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					TGTGCTGACACCTGGGTTAAC	0.512																																							uc011ktz.1		NA																	0				skin(2)	2						c.(571-573)ACC>ATC		olfactory receptor, family 2, subfamily A,							133.0	135.0	134.0					7																	143807247		1982	4182	6164	SO:0001583	missense	442361				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143807247C>T		CCDS43671.1	7q35	2013-09-20		2004-03-10	ENSG00000221989	ENSG00000221989		"""GPCR / Class A : Olfactory receptors"""	8230	protein-coding gene	gene with protein product				OR2A2P, OR2A17P			Standard	NM_001005480		Approved	OST008	uc011ktz.2	Q6IF42	OTTHUMG00000158001	ENST00000408979.2:c.572C>T	7.37:g.143807247C>T	ENSP00000386209:p.Thr191Ile						p.T191I	NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN			1	572	+	Melanoma(164;0.0783)		191			Extracellular (Potential).		B2RN85|Q8NGT6	Missense_Mutation	SNP	ENST00000408979.2	37	c.572C>T	CCDS43671.1	.	.	.	.	.	.	.	.	.	.	C	9.950	1.219945	0.22373	.	.	ENSG00000221989	ENST00000408979	T	0.00245	8.45	3.47	3.47	0.39725	GPCR, rhodopsin-like superfamily (1);	0.231784	0.21831	N	0.068470	T	0.00271	0.0008	L	0.33792	1.035	0.22127	N	0.999341	P	0.40000	0.698	P	0.50934	0.654	T	0.57745	-0.7758	10	0.54805	T	0.06	-12.3859	12.7847	0.57498	0.0:1.0:0.0:0.0	.	191	Q6IF42	OR2A2_HUMAN	I	191	ENSP00000386209:T191I	ENSP00000386209:T191I	T	+	2	0	OR2A2	143438180	0.031000	0.19500	0.079000	0.20413	0.273000	0.26683	1.243000	0.32767	1.938000	0.56188	0.511000	0.50034	ACC		0.512	OR2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349978.1			54	115	0	0	0	0.00361	0	54	115				
NOBOX	135935	broad.mit.edu	37	7	144098216	144098216	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:144098216T>C	ENST00000467773.1	-	4	766	c.767A>G	c.(766-768)cAa>cGa	p.Q256R	NOBOX_ENST00000223140.5_Missense_Mutation_p.Q171R|NOBOX_ENST00000483238.1_Missense_Mutation_p.Q256R	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	256					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GTCTCTGTTTTGGTTGCTCTG	0.577																																							uc011kue.1		NA																	0				ovary(1)	1						c.(766-768)CAA>CGA		NOBOX oogenesis homeobox							55.0	54.0	55.0					7																	144098216		1872	4095	5967	SO:0001583	missense	135935				cell differentiation|oogenesis	nucleus	sequence-specific DNA binding	g.chr7:144098216T>C			7q35	2011-06-20			ENSG00000106410	ENSG00000106410		"""Homeoboxes / PRD class"""	22448	protein-coding gene	gene with protein product	"""newborn ovary homeobox-encoding gene"""	610934				11804785, 16597639	Standard	NM_001080413		Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.767A>G	7.37:g.144098216T>C	ENSP00000419457:p.Gln256Arg						p.Q256R	NM_001080413	NP_001073882	O60393	NOBOX_HUMAN			4	767	-	Melanoma(164;0.14)		256					A6NCD3|A8MZN5	Missense_Mutation	SNP	ENST00000467773.1	37	c.767A>G		.	.	.	.	.	.	.	.	.	.	T	6.754	0.507950	0.12883	.	.	ENSG00000106410	ENST00000483238;ENST00000467773;ENST00000223140;ENST00000555556	D;D;D	0.93659	-3.0;-3.26;-3.0	5.13	2.75	0.32379	.	0.714158	0.12673	N	0.448618	D	0.84629	0.5514	L	0.29908	0.895	0.09310	N	1	B	0.31485	0.325	B	0.19391	0.025	T	0.70992	-0.4721	10	0.18710	T	0.47	-1.8309	5.304	0.15793	0.0:0.0966:0.2072:0.6963	.	256	O60393	NOBOX_HUMAN	R	256;256;171;45	ENSP00000419565:Q256R;ENSP00000419457:Q256R;ENSP00000223140:Q171R	ENSP00000223140:Q171R	Q	-	2	0	NOBOX	143729149	0.021000	0.18746	0.028000	0.17463	0.144000	0.21451	0.298000	0.19120	0.413000	0.25759	0.454000	0.30748	CAA		0.577	NOBOX-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000350095.1	XM_001134420		10	17	0	0	0	0.006214	0	10	17				
CNTNAP2	26047	broad.mit.edu	37	7	147259301	147259301	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:147259301G>C	ENST00000361727.3	+	12	2365	c.1849G>C	c.(1849-1851)Gat>Cat	p.D617H		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	617	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GATAGATCCTGATGGCAGCGG	0.403										HNSCC(39;0.1)																													uc003weu.1		NA																	0				ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(1849-1851)GAT>CAT		cell recognition molecule Caspr2 precursor							111.0	108.0	109.0					7																	147259301		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147259301G>C	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1849G>C	7.37:g.147259301G>C	ENSP00000354778:p.Asp617His	HNSCC(39;0.1)					p.D617H	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		12	2365	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	617			Extracellular (Potential).|Fibrinogen C-terminal.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.1849G>C	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	31	5.061560	0.93846	.	.	ENSG00000174469	ENST00000361727	T	0.19938	2.11	5.93	5.93	0.95920	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (2);	0.000000	0.64402	D	0.000002	T	0.59891	0.2227	M	0.93808	3.46	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68492	-0.5394	10	0.62326	D	0.03	.	18.9092	0.92475	0.0:0.0:1.0:0.0	.	617	Q9UHC6	CNTP2_HUMAN	H	617	ENSP00000354778:D617H	ENSP00000354778:D617H	D	+	1	0	CNTNAP2	146890234	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.662000	0.98603	2.797000	0.96272	0.655000	0.94253	GAT		0.403	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			17	47	0	0	0	0.008871	0	17	47				
ZNF786	136051	broad.mit.edu	37	7	148768605	148768605	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:148768605C>A	ENST00000491431.1	-	4	1323	c.1259G>T	c.(1258-1260)gGt>gTt	p.G420V	ZNF786_ENST00000451334.3_Missense_Mutation_p.G383V|ZNF786_ENST00000316286.9_Missense_Mutation_p.G334V	NM_152411.3	NP_689624.2	Q8N393	ZN786_HUMAN	zinc finger protein 786	420					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(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TCTCTCCCCACCGTGCGCGTG	0.622																																							uc003wfh.2		NA																	0				breast(3)|skin(1)	4						c.(1258-1260)GGT>GTT		zinc finger protein 786							36.0	39.0	38.0					7																	148768605		2152	4265	6417	SO:0001583	missense	136051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148768605C>A	AK095701, AL834510	CCDS47738.1	7q36.1	2013-01-08			ENSG00000197362	ENSG00000197362		"""Zinc fingers, C2H2-type"", ""-"""	21806	protein-coding gene	gene with protein product							Standard	NM_152411		Approved	DKFZp762I137	uc003wfh.2	Q8N393	OTTHUMG00000158975	ENST00000491431.1:c.1259G>T	7.37:g.148768605C>A	ENSP00000417470:p.Gly420Val					ZNF786_uc011kuk.1_Missense_Mutation_p.G383V|ZNF786_uc003wfi.2_Missense_Mutation_p.G334V	p.G420V	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		4	1396	-	Melanoma(164;0.15)		420					A1A568|B4DMI1	Missense_Mutation	SNP	ENST00000491431.1	37	c.1259G>T	CCDS47738.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.225345	0.39300	.	.	ENSG00000197362	ENST00000316286;ENST00000538412;ENST00000491431;ENST00000451334	T;T;T	0.07114	3.22;3.22;3.22	4.22	2.42	0.29668	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.911918	0.09066	N	0.853504	T	0.07143	0.0181	L	0.31578	0.945	0.09310	N	0.999999	P	0.43231	0.801	B	0.40636	0.335	T	0.34254	-0.9836	10	0.87932	D	0	0.4721	4.2188	0.10547	0.0:0.5975:0.192:0.2105	.	420	Q8N393	ZN786_HUMAN	V	334;334;420;383	ENSP00000313516:G334V;ENSP00000417470:G420V;ENSP00000404984:G383V	ENSP00000313516:G334V	G	-	2	0	ZNF786	148399538	0.036000	0.19791	0.000000	0.03702	0.003000	0.03518	3.210000	0.51129	0.455000	0.26910	-0.136000	0.14681	GGT		0.622	ZNF786-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352751.1	NM_152411		11	24	1	0	9.31168e-06	0.001855	1.10067e-05	11	24				
KRBA1	84626	broad.mit.edu	37	7	149427646	149427646	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:149427646G>T	ENST00000485033.2	+	13	1951	c.1951G>T	c.(1951-1953)Ggc>Tgc	p.G651C	KRBA1_ENST00000255992.10_Missense_Mutation_p.G711C|KRBA1_ENST00000319551.8_Missense_Mutation_p.G651C|KRBA1_ENST00000479560.1_3'UTR			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	712	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTACTGCAGCGGCCTCGGTGC	0.662																																							uc003wfz.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2134-2136)GGC>TGC		KRAB A domain containing 1																																				SO:0001583	missense	84626							g.chr7:149427646G>T	AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619		"""-"""	22228	protein-coding gene	gene with protein product			"""KRAB A domain containing 1"""				Standard	NM_001290187		Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000485033.2:c.1951G>T	7.37:g.149427646G>T	ENSP00000420112:p.Gly651Cys					KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_RNA|KRBA1_uc003wgb.2_Missense_Mutation_p.G319C	p.G712C	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		16	2533	+	Melanoma(164;0.165)|Ovarian(565;0.177)		712			Pro-rich.		A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Missense_Mutation	SNP	ENST00000485033.2	37	c.2134G>T		.	.	.	.	.	.	.	.	.	.	G	13.54	2.268286	0.40095	.	.	ENSG00000133619	ENST00000255992;ENST00000319551;ENST00000485033	T;T;T	0.34667	1.43;1.35;1.35	4.5	-1.96	0.07525	.	1.642850	0.03152	N	0.168045	T	0.47248	0.1435	.	.	.	0.09310	N	1	D;D	0.67145	0.996;0.993	P;P	0.55055	0.767;0.767	T	0.48948	-0.8989	9	0.56958	D	0.05	2.8033	8.8304	0.35080	0.6176:0.0:0.3824:0.0	.	651;712	E7ENE9;A5PL33	.;KRBA1_HUMAN	C	711;651;651	ENSP00000255992:G711C;ENSP00000317165:G651C;ENSP00000420112:G651C	ENSP00000255992:G711C	G	+	1	0	KRBA1	149058579	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.347000	0.02632	-0.659000	0.05359	-1.008000	0.02478	GGC		0.662	KRBA1-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000349841.3	NM_032534		7	12	1	0	1.12685e-05	0.004482	1.32356e-05	7	12				
SSPO	23145	broad.mit.edu	37	7	149477097	149477097	+	RNA	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:149477097G>T	ENST00000378016.2	+	0	1274							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TACTGCGCAGGGGCCATGGCA	0.637																																							uc010lpk.2		NA																	0					0						c.(1273-1275)GGG>GTG		SCO-spondin precursor							33.0	34.0	34.0					7																	149477097		2023	4177	6200			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149477097G>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149477097G>T						SSPO_uc010lpl.1_Intron	p.G425V	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		11	1274	+	Melanoma(164;0.165)|Ovarian(565;0.177)		425					Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37	c.1274G>T																																																																																					0.637	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				3	9	1	0	0.004672	0.004672	0.00493414	3	9				
GIMAP1	170575	broad.mit.edu	37	7	150417431	150417431	+	Missense_Mutation	SNP	C	C	A	rs370175882		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:150417431C>A	ENST00000307194.5	+	3	479	c.339C>A	c.(337-339)caC>caA	p.H113Q		NM_130759.3	NP_570115.1	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	113	AIG1-type G.				B cell differentiation (GO:0030183)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCGGACCCCACGCGCTGCTCC	0.622																																							uc003whq.2		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(337-339)CAC>CAA		GTPase, IMAP family member 1							44.0	42.0	43.0					7																	150417431		2203	4300	6503	SO:0001583	missense	170575					endoplasmic reticulum membrane|integral to membrane	GTP binding	g.chr7:150417431C>A	AJ306287	CCDS5906.1	7q36.1	2014-04-04			ENSG00000213203	ENSG00000213203		"""GTPases, IMAP"""	23237	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 2"""	608084				15474311, 18701445	Standard	NM_130759		Approved	HIMAP1, IMAP38, IMAP1, IAN2		Q8WWP7	OTTHUMG00000157489	ENST00000307194.5:c.339C>A	7.37:g.150417431C>A	ENSP00000302833:p.His113Gln					GIMAP1_uc003whp.2_Missense_Mutation_p.H121Q	p.H113Q	NM_130759	NP_570115	Q8WWP7	GIMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	426	+			113			Cytoplasmic (Potential).		B2RCI3|Q8NAZ0	Missense_Mutation	SNP	ENST00000307194.5	37	c.339C>A	CCDS5906.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.993526	0.54041	.	.	ENSG00000213203	ENST00000307194	T	0.61980	0.06	4.72	-3.28	0.05033	AIG1 (1);	0.000000	0.64402	U	0.000001	T	0.76321	0.3971	M	0.91249	3.19	0.22903	N	0.998583	D	0.89917	1.0	D	0.91635	0.999	T	0.66905	-0.5805	10	0.87932	D	0	.	5.6693	0.17713	0.133:0.3634:0.0:0.5036	.	113	Q8WWP7	GIMA1_HUMAN	Q	113	ENSP00000302833:H113Q	ENSP00000302833:H113Q	H	+	3	2	GIMAP1	150048364	0.019000	0.18553	0.137000	0.22149	0.815000	0.46073	-1.238000	0.02919	-0.608000	0.05731	0.655000	0.94253	CAC		0.622	GIMAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348951.2	NM_130759		12	32	1	0	3.07112e-06	0.000978	3.69777e-06	12	32				
NOS3	4846	broad.mit.edu	37	7	150707685	150707685	+	Splice_Site	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:150707685G>T	ENST00000297494.3	+	22	3043	c.2686G>T	c.(2686-2688)Gat>Tat	p.D896Y	NOS3_ENST00000477227.1_3'UTR|NOS3_ENST00000461406.1_Splice_Site_p.D690Y|ATG9B_ENST00000494791.1_5'Flank	NM_000603.4	NP_000594.2	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCCCGCCAGGATCCCCGACG	0.647																																							uc003wif.2		NA																	0				central_nervous_system(5)|large_intestine(2)|skin(1)	8						c.(2686-2688)GAT>TAT		nitric oxide synthase 3 isoform 1	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)						25.0	24.0	24.0					7																	150707685		2199	4292	6491	SO:0001630	splice_region_variant	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150707685G>T		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000297494.3:c.2686-1G>T	7.37:g.150707685G>T						NOS3_uc011kuy.1_Missense_Mutation_p.D690Y	p.D896Y	NM_000603	NP_000594	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	22	2982	+	all_neural(206;0.219)		896			FAD-binding FR-type.		Q495E5	Missense_Mutation	SNP	ENST00000297494.3	37	c.2686G>T	CCDS5912.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.8|27.8	4.861071|4.861071	0.91433|0.91433	.|.	.|.	ENSG00000164867|ENSG00000164867	ENST00000297494;ENST00000461406|ENST00000475017	T;T|.	0.37752|.	1.18;1.18|.	5.06|5.06	5.06|5.06	0.68205|0.68205	Riboflavin synthase-like beta-barrel (1);FAD-binding, type 1 (1);NADPH-cytochrome p450 reductase, FAD-binding, alpha-helical domain-3 (1);Ferredoxin reductase-type FAD-binding domain (1);|.	0.000000|.	0.64402|.	D|.	0.000004|.	T|T	0.71762|0.71762	0.3378|0.3378	M|M	0.65320|0.65320	2|2	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.997|.	D;D|.	0.75484|.	0.986;0.979|.	T|T	0.70306|0.70306	-0.4908|-0.4908	10|5	0.72032|.	D|.	0.01|.	-18.7653|-18.7653	15.9582|15.9582	0.79902|0.79902	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	690;896|.	E7ESA7;P29474|.	.;NOS3_HUMAN|.	Y|S	896;690|189	ENSP00000297494:D896Y;ENSP00000417143:D690Y|.	ENSP00000297494:D896Y|.	D|R	+|+	1|3	0|2	NOS3|NOS3	150338618|150338618	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.829000|0.829000	0.46940|0.46940	9.123000|9.123000	0.94387|0.94387	2.630000|2.630000	0.89119|0.89119	0.491000|0.491000	0.48974|0.48974	GAT|AGG		0.647	NOS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350750.2	NM_000603	Missense_Mutation	6	11	1	0	0.00198382	0.001984	0.00213454	6	11				
KMT2C	58508	broad.mit.edu	37	7	151860040	151860040	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:151860040C>A	ENST00000262189.6	-	43	10840	c.10622G>T	c.(10621-10623)gGg>gTg	p.G3541V	KMT2C_ENST00000355193.2_Missense_Mutation_p.G3541V	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3541					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GAAGCTGGTCCCAGAAAGATT	0.498																																						Colon(68;14 1149 1884 27689 34759)	uc003wla.2		NA								N							medulloblastoma		0				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(10621-10623)GGG>GTG		myeloid/lymphoid or mixed-lineage leukemia 3							68.0	72.0	70.0					7																	151860040		2203	4300	6503	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151860040C>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.10622G>T	7.37:g.151860040C>A	ENSP00000262189:p.Gly3541Val					MLL3_uc003wkz.2_Missense_Mutation_p.G2602V|MLL3_uc003wky.2_Missense_Mutation_p.G1050V	p.G3541V	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	43	10841	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	3541					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.10622G>T	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.89|15.89	2.965318|2.965318	0.53507|0.53507	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000424877|ENST00000360104	D;D;D|.	0.91577|.	-2.01;-2.01;-2.87|.	5.38|5.38	4.49|4.49	0.54785|0.54785	.|.	0.000000|.	0.47093|.	D|.	0.000243|.	T|T	0.70465|0.70465	0.3227|0.3227	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	D;D;D|.	0.69078|.	0.985;0.997;0.986|.	P;P;P|.	0.60949|.	0.817;0.881;0.812|.	T|T	0.69617|0.69617	-0.5097|-0.5097	10|5	0.87932|.	D|.	0|.	.|.	14.4717|14.4717	0.67521|0.67521	0.0:0.9282:0.0:0.0718|0.0:0.9282:0.0:0.0718	.|.	3541;2602;3541|.	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3|.	MLL3_HUMAN;.;.|.	V|C	3541;3541;127|1046	ENSP00000262189:G3541V;ENSP00000347325:G3541V;ENSP00000410411:G127V|.	ENSP00000262189:G3541V|.	G|W	-|-	2|3	0|0	MLL3|MLL3	151490973|151490973	0.758000|0.758000	0.28405|0.28405	0.678000|0.678000	0.29963|0.29963	0.907000|0.907000	0.53573|0.53573	4.430000|4.430000	0.59907|0.59907	2.524000|2.524000	0.85096|0.85096	0.561000|0.561000	0.74099|0.74099	GGG|TGG		0.498	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			19	37	1	0	1.96292e-10	0.010504	2.73046e-10	19	37				
XRCC2	7516	broad.mit.edu	37	7	152345743	152345743	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:152345743C>G	ENST00000359321.1	-	3	912	c.827G>C	c.(826-828)gGg>gCg	p.G276A	XRCC2_ENST00000495707.1_5'UTR	NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 2	276					centrosome organization (GO:0051297)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of neurogenesis (GO:0050769)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|strand invasion (GO:0042148)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		AAATTCAACCCCACTTTCTCC	0.318								Homologous recombination																															uc003wld.2		NA																	0				breast(1)|liver(1)	2						c.(826-828)GGG>GCG	Homologous_recombination	X-ray repair cross complementing protein 2							28.0	32.0	31.0					7																	152345743		2198	4300	6498	SO:0001583	missense	7516				meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr7:152345743C>G	Y08837	CCDS5933.1	7q36	2006-05-04			ENSG00000196584	ENSG00000196584			12829	protein-coding gene	gene with protein product	"""RAD51-like"""	600375				7607692, 10422536	Standard	NM_005431		Approved		uc003wld.3	O43543	OTTHUMG00000151470	ENST00000359321.1:c.827G>C	7.37:g.152345743C>G	ENSP00000352271:p.Gly276Ala						p.G276A	NM_005431	NP_005422	O43543	XRCC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)	3	913	-		all_hematologic(28;0.0592)|Prostate(32;0.081)	276					B2R925	Missense_Mutation	SNP	ENST00000359321.1	37	c.827G>C	CCDS5933.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.657230	0.67586	.	.	ENSG00000196584	ENST00000359321	D	0.92348	-3.02	5.36	5.36	0.76844	.	0.107337	0.64402	D	0.000006	D	0.95768	0.8623	M	0.71581	2.175	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.96101	0.9069	10	0.87932	D	0	-20.7428	18.1139	0.89545	0.0:1.0:0.0:0.0	.	276	O43543	XRCC2_HUMAN	A	276	ENSP00000352271:G276A	ENSP00000352271:G276A	G	-	2	0	XRCC2	151976676	1.000000	0.71417	0.996000	0.52242	0.876000	0.50452	4.521000	0.60532	2.515000	0.84797	0.460000	0.39030	GGG		0.318	XRCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322783.1	NM_005431		5	23	0	0	0	0.000602	0	5	23				
HTR5A	3361	broad.mit.edu	37	7	154863225	154863225	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:154863225G>T	ENST00000287907.2	+	1	1192	c.616G>T	c.(616-618)Gta>Tta	p.V206L	HTR5A-AS1_ENST00000395731.2_5'UTR|HTR5A-AS1_ENST00000493904.1_5'UTR|HTR5A-AS1_ENST00000543018.1_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	206					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	GTTCTCCACCGTAGGCGCCTT	0.607																																							uc003wlu.1		NA																	0				ovary(2)|large_intestine(1)	3						c.(616-618)GTA>TTA		5-hydroxytryptamine receptor 5A							80.0	70.0	73.0					7																	154863225		2203	4300	6503	SO:0001583	missense	3361					integral to plasma membrane	serotonin receptor activity	g.chr7:154863225G>T		CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5300	protein-coding gene	gene with protein product		601305	"""5-hydroxytryptamine (serotonin) receptor 5A"""			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.616G>T	7.37:g.154863225G>T	ENSP00000287907:p.Val206Leu					uc011kvt.1_5'UTR|uc003wlt.2_5'UTR	p.V206L	NM_024012	NP_076917	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	1	680	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	206			Helical; Name=5; (By similarity).		Q2M2D2	Missense_Mutation	SNP	ENST00000287907.2	37	c.616G>T	CCDS5936.1	.	.	.	.	.	.	.	.	.	.	G	8.998	0.979321	0.18812	.	.	ENSG00000157219	ENST00000287907	T	0.71341	-0.56	4.77	3.87	0.44632	GPCR, rhodopsin-like superfamily (1);	0.111399	0.64402	N	0.000012	T	0.51958	0.1705	N	0.26092	0.79	0.38106	D	0.937419	P	0.42010	0.768	B	0.42593	0.392	T	0.56902	-0.7902	10	0.02654	T	1	.	7.9167	0.29822	0.0:0.1307:0.5484:0.3209	.	206	P47898	5HT5A_HUMAN	L	206	ENSP00000287907:V206L	ENSP00000287907:V206L	V	+	1	0	HTR5A	154494158	1.000000	0.71417	0.998000	0.56505	0.865000	0.49528	4.247000	0.58750	1.215000	0.43411	0.655000	0.94253	GTA		0.607	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		11	30	1	0	9.04627e-18	0.001855	1.46694e-17	11	30				
ESYT2	57488	broad.mit.edu	37	7	158534284	158534284	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:158534284T>A	ENST00000251527.5	-	17	2244	c.2179A>T	c.(2179-2181)Agc>Tgc	p.S727C	ESYT2_ENST00000435514.2_Missense_Mutation_p.S162C	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	755					endocytosis (GO:0006897)|lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						GAGGCGATGCTGGGGGTCGGC	0.647																																							uc003wob.1		NA																	0				central_nervous_system(2)|kidney(1)	3						c.(2179-2181)AGC>TGC		family with sequence similarity 62 (C2 domain							47.0	46.0	47.0					7																	158534284		2203	4300	6503	SO:0001583	missense	57488					integral to membrane|plasma membrane		g.chr7:158534284T>A	AB033054	CCDS34791.1	7q36.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000117868	ENSG00000117868		"""Synaptotagmins"""	22211	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member B"""	FAM62B		17672888	Standard	NM_020728		Approved	KIAA1228, CHR2SYT	uc003wob.1	A0FGR8	OTTHUMG00000151436	ENST00000251527.5:c.2179A>T	7.37:g.158534284T>A	ENSP00000251527:p.Ser727Cys					ESYT2_uc003woc.1_Missense_Mutation_p.S551C|ESYT2_uc003wny.1_RNA|ESYT2_uc003wnz.1_Missense_Mutation_p.S166C|ESYT2_uc003woa.1_Missense_Mutation_p.S304C	p.S727C	NM_020728	NP_065779	A0FGR8	ESYT2_HUMAN			17	2245	-			755					A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2	Missense_Mutation	SNP	ENST00000251527.5	37	c.2179A>T	CCDS34791.1	.	.	.	.	.	.	.	.	.	.	T	19.48	3.835741	0.71373	.	.	ENSG00000117868	ENST00000251527;ENST00000421679;ENST00000275418;ENST00000435514;ENST00000377650	T;T;T	0.23754	1.89;1.91;2.28	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.50034	0.1592	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.94	T	0.54077	-0.8347	10	0.87932	D	0	-19.645	14.3765	0.66881	0.0:0.0:0.0:1.0	.	727;755	A0FGR8-2;A0FGR8	.;ESYT2_HUMAN	C	727;776;718;162;162	ENSP00000251527:S727C;ENSP00000275418:S718C;ENSP00000411488:S162C	ENSP00000251527:S727C	S	-	1	0	ESYT2	158227045	1.000000	0.71417	0.948000	0.38648	0.188000	0.23474	7.632000	0.83247	2.055000	0.61198	0.533000	0.62120	AGC		0.647	ESYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322647.1	NM_020728		20	33	0	0	0	0.00278	0	20	33				
DLGAP2	9228	broad.mit.edu	37	8	1496869	1496869	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:1496869C>A	ENST00000421627.2	+	2	144	c.10C>A	c.(10-12)Ctt>Att	p.L4I		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	83					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CATGAAGGGCCTTTCCGGAAG	0.677																																							uc003wpl.2		NA																	0					0						c.(10-12)CTT>ATT		discs large-associated protein 2							9.0	10.0	10.0					8																	1496869		1739	3523	5262	SO:0001583	missense	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1496869C>A	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.10C>A	8.37:g.1496869C>A	ENSP00000400258:p.Leu4Ile					DLGAP2_uc003wpm.2_Missense_Mutation_p.L4I	p.L4I	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	2	107	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	83					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	37	c.10C>A	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.029310	0.35797	.	.	ENSG00000198010	ENST00000356067;ENST00000421627	T	0.17370	2.28	4.83	0.928	0.19443	.	0.070276	0.53938	D	0.000052	T	0.36826	0.0981	M	0.78049	2.395	0.23546	N	0.997447	D;D	0.76494	0.999;0.999	D;D	0.83275	0.995;0.996	T	0.11616	-1.0580	10	0.87932	D	0	-5.8948	7.9209	0.29846	0.0:0.274:0.0:0.726	.	83;83	Q9P1A6-2;Q9P1A6	.;DLGP2_HUMAN	I	49;4	ENSP00000400258:L4I	ENSP00000348366:L49I	L	+	1	0	DLGAP2	1484276	0.796000	0.28864	0.000000	0.03702	0.115000	0.19883	0.823000	0.27366	-0.094000	0.12374	0.462000	0.41574	CTT		0.677	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		5	12	1	0	5.18039e-06	0.00308	6.18734e-06	5	12				
DLGAP2	9228	broad.mit.edu	37	8	1497625	1497625	+	Missense_Mutation	SNP	G	G	A	rs371264718		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:1497625G>A	ENST00000421627.2	+	2	900	c.766G>A	c.(766-768)Ggg>Agg	p.G256R		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	335					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GAGCCCCTTCGGGGACCTGTC	0.672																																							uc003wpl.2		NA																	0					0						c.(766-768)GGG>AGG		discs large-associated protein 2		G	ARG/GLY	1,4199		0,1,2099	52.0	60.0	57.0		766	5.3	0.9	8		57	0,8464		0,0,4232	no	missense	DLGAP2	NM_004745.3	125	0,1,6331	AA,AG,GG		0.0,0.0238,0.0079	probably-damaging	256/976	1497625	1,12663	2100	4232	6332	SO:0001583	missense	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1497625G>A	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.766G>A	8.37:g.1497625G>A	ENSP00000400258:p.Gly256Arg					DLGAP2_uc003wpm.2_Missense_Mutation_p.G256R	p.G256R	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	2	863	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	335					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	37	c.766G>A	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.800045	0.50208	2.38E-4	0.0	ENSG00000198010	ENST00000356067;ENST00000421627	T	0.41400	1.0	5.3	5.3	0.74995	.	0.340941	0.33553	N	0.004782	T	0.60011	0.2236	L	0.56124	1.755	0.47037	D	0.99929	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.52208	-0.8606	10	0.20519	T	0.43	-18.3299	18.9482	0.92630	0.0:0.0:1.0:0.0	.	335;335	Q9P1A6-2;Q9P1A6	.;DLGP2_HUMAN	R	301;256	ENSP00000400258:G256R	ENSP00000348366:G301R	G	+	1	0	DLGAP2	1485032	1.000000	0.71417	0.941000	0.38009	0.723000	0.41478	7.074000	0.76791	2.463000	0.83235	0.655000	0.94253	GGG		0.672	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		13	62	0	0	0	0.007413	0	13	62				
CSMD1	64478	broad.mit.edu	37	8	2944787	2944787	+	Missense_Mutation	SNP	G	G	T	rs371234385		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:2944787G>T	ENST00000520002.1	-	50	7864	c.7309C>A	c.(7309-7311)Cac>Aac	p.H2437N	CSMD1_ENST00000602723.1_Missense_Mutation_p.H2437N|CSMD1_ENST00000542608.1_Missense_Mutation_p.H2436N|CSMD1_ENST00000400186.3_Missense_Mutation_p.H2437N|CSMD1_ENST00000537824.1_Missense_Mutation_p.H2436N|CSMD1_ENST00000602557.1_Missense_Mutation_p.H2437N			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2437	Sushi 14. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTCAGGGGGTGGGTCAAACTG	0.488																																							uc011kwk.1		NA																	0				breast(20)|large_intestine(5)	25						c.(7309-7311)CAC>AAC		CUB and Sushi multiple domains 1 precursor							79.0	78.0	78.0					8																	2944787		1939	4146	6085	SO:0001583	missense	64478					integral to membrane		g.chr8:2944787G>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.7309C>A	8.37:g.2944787G>T	ENSP00000430733:p.His2437Asn					CSMD1_uc011kwj.1_Missense_Mutation_p.H1766N|CSMD1_uc010lrg.2_Missense_Mutation_p.H505N	p.H2437N	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	49	7699	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2437			Sushi 14.|Extracellular (Potential).		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.7309C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.377|0.377	-0.930568|-0.930568	0.02359|0.02359	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608|ENST00000335551	T;T;T;T|.	0.23147|.	1.92;1.92;1.92;1.92|.	5.57|5.57	3.58|3.58	0.41010|0.41010	Complement control module (2);Sushi/SCR/CCP (2);|.	0.574235|.	0.17598|.	N|.	0.168501|.	T|T	0.24160|0.24160	0.0585|0.0585	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	B;B;B|.	0.22909|.	0.0;0.0;0.077|.	B;B;B|.	0.25614|.	0.001;0.002;0.062|.	T|T	0.21930|0.21930	-1.0231|-1.0231	10|5	0.33141|.	T|.	0.24|.	.|.	2.5416|2.5416	0.04727|0.04727	0.1786:0.1427:0.5321:0.1467|0.1786:0.1427:0.5321:0.1467	.|.	2437;2437;2436|.	E5RIG2;Q96PZ7;F5H2I8|.	.;CSMD1_HUMAN;.|.	N|Q	2437;2437;2298;2436;2436|1853	ENSP00000383047:H2437N;ENSP00000430733:H2437N;ENSP00000441462:H2436N;ENSP00000446243:H2436N|.	ENSP00000320445:H2298N|.	H|P	-|-	1|2	0|0	CSMD1|CSMD1	2932194|2932194	0.006000|0.006000	0.16342|0.16342	0.003000|0.003000	0.11579|0.11579	0.005000|0.005000	0.04900|0.04900	1.077000|1.077000	0.30741|0.30741	0.519000|0.519000	0.28406|0.28406	0.462000|0.462000	0.41574|0.41574	CAC|CCA		0.488	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		19	61	1	0	1.87028e-06	0.001882	2.28898e-06	19	61				
SPAG11B	10407	broad.mit.edu	37	8	7308656	7308656	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:7308656T>A	ENST00000297498.2	-	3	446	c.280A>T	c.(280-282)Aga>Tga	p.R94*	SPAG11B_ENST00000398462.2_Intron|SPAG11B_ENST00000458665.1_Intron|SPAG11B_ENST00000528168.1_Nonsense_Mutation_p.R41*|SPAG11B_ENST00000359758.5_Intron|SPAG11B_ENST00000361111.2_Intron	NM_016512.3	NP_057596.1	Q08648	SG11B_HUMAN	sperm associated antigen 11B	94					spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				large_intestine(2)|lung(3)|urinary_tract(1)	6				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		CTGGCCCATCTAGGCCCTAAA	0.443																																							uc003wrk.2		NA																	0					0						c.(280-282)AGA>TGA		sperm associated antigen 11B isoform A							72.0	84.0	80.0					8																	7308656		2080	4191	6271	SO:0001587	stop_gained	10407				spermatogenesis	extracellular region		g.chr8:7308656T>A	AF168616	CCDS5964.1, CCDS5965.1, CCDS5966.1, CCDS5967.1, CCDS47774.1	8p23.1	2014-02-21	2007-03-15	2007-03-15	ENSG00000164871	ENSG00000164871			14534	protein-coding gene	gene with protein product	"""epididymal protein 2B"""	606560				8167223, 1693137	Standard	NM_058200		Approved	HE2, EP2, EP2C, EP2D, EDDM2B	uc003wrl.3	Q08648	OTTHUMG00000129219	ENST00000297498.2:c.280A>T	8.37:g.7308656T>A	ENSP00000297498:p.Arg94*					SPAG11B_uc003wrg.1_Intron|SPAG11B_uc003wrh.1_Intron|SPAG11B_uc003wri.2_Nonsense_Mutation_p.R41*|SPAG11B_uc003wrj.2_Intron|SPAG11B_uc003wrl.2_Intron	p.R94*	NM_016512	NP_057596	Q08648	SG11B_HUMAN		COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)	3	447	-			94					E9PFH0|Q546A0|Q6ZYB2|Q9H4P8|Q9H4P9|Q9H4Q0|Q9H4Q1|Q9H4Q2|Q9NRT3|Q9NRV4|Q9NRV5|Q9NRV6|Q9NRV7|Q9NRV8	Nonsense_Mutation	SNP	ENST00000297498.2	37	c.280A>T	CCDS5966.1	.	.	.	.	.	.	.	.	.	.	T	12.57	1.978165	0.34942	.	.	ENSG00000164871	ENST00000297498;ENST00000528168	.	.	.	1.82	-3.63	0.04529	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	0.1559	0.00098	0.2635:0.2236:0.2609:0.2521	.	.	.	.	X	94;41	.	ENSP00000297498:R94X	R	-	1	2	SPAG11B	7296066	0.004000	0.15560	0.000000	0.03702	0.004000	0.04260	-0.053000	0.11846	-3.619000	0.00131	-0.680000	0.03767	AGA		0.443	SPAG11B-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251390.2	NM_058202, NM_058200, NM_058201, NM_016512, NM_058203, NM_058206, NM_058207		8	60	0	0	0	0.008291	0	8	60				
SGK223	157285	broad.mit.edu	37	8	8234233	8234233	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:8234233C>T	ENST00000520004.1	-	3	1950	c.1686G>A	c.(1684-1686)ggG>ggA	p.G562G	SGK223_ENST00000330777.4_Silent_p.G562G			Q86YV5	SG223_HUMAN		564							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										ACACTGGGGGCCCTCCAGCAG	0.652																																					GBM(34;731 755 10259 33573 33867)	GBM(34;731 755 10259 33573 33867)	uc003wsh.3		NA																	0					0						c.(1684-1686)GGG>GGA		pragmin							27.0	31.0	30.0					8																	8234233		2022	4151	6173	SO:0001819	synonymous_variant	157285						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8234233C>T																												ENST00000520004.1:c.1686G>A	8.37:g.8234233C>T							p.G562G	NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN			2	1686	-			562					Q8N3N5	Silent	SNP	ENST00000520004.1	37	c.1686G>A	CCDS43706.1																																																																																				0.652	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			11	25	0	0	0	0.001368	0	11	25				
RP1L1	94137	broad.mit.edu	37	8	10466404	10466404	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:10466404C>A	ENST00000382483.3	-	4	5427	c.5204G>T	c.(5203-5205)aGc>aTc	p.S1735I		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1815					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		AGGCCCCTGGCTCAGCCCCGG	0.657																																							uc003wtc.2		NA																	0				ovary(4)|breast(3)|central_nervous_system(1)	8						c.(5203-5205)AGC>ATC		retinitis pigmentosa 1-like 1							80.0	88.0	85.0					8																	10466404		1960	4156	6116	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10466404C>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.5204G>T	8.37:g.10466404C>A	ENSP00000371923:p.Ser1735Ile						p.S1735I	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	5433	-			1735					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.5204G>T	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.898171	0.33535	.	.	ENSG00000183638	ENST00000382483	T	0.04809	3.55	4.51	-1.17	0.09648	.	1.732920	0.03983	U	0.293672	T	0.02767	0.0083	N	0.08118	0	0.09310	N	1	B	0.20671	0.047	B	0.19946	0.027	T	0.43048	-0.9415	10	0.46703	T	0.11	-0.5171	2.2518	0.04045	0.1309:0.5016:0.1278:0.2397	.	1735	A6NKC6	.	I	1735	ENSP00000371923:S1735I	ENSP00000371923:S1735I	S	-	2	0	RP1L1	10503814	0.000000	0.05858	0.001000	0.08648	0.064000	0.16182	-0.962000	0.03841	-0.284000	0.09102	0.313000	0.20887	AGC		0.657	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			34	101	1	0	5.71845e-15	0.005524	8.82089e-15	34	101				
RP1L1	94137	broad.mit.edu	37	8	10469309	10469310	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:10469309_10469310CC>AA	ENST00000382483.3	-	4	2521_2522	c.2298_2299GG>TT	c.(2296-2301)gcGGgg>gcTTgg	p.G767W		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	767					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GTCCTGGACCCCGCGTCCCCTG	0.658																																							uc003wtc.2		NA																	0				ovary(4)|breast(3)|central_nervous_system(1)	8						c.(2296-2301)GCGGGG>GCTTGG		retinitis pigmentosa 1-like 1																																				SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10469309_10469310CC>AA	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.2298_2299delinsAA	8.37:g.10469309_10469310delinsAA	ENSP00000371923:p.Gly767Trp						p.G767W	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	2527_2528	-			767					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	DNP	ENST00000382483.3	37	c.2298_2299GG>TT	CCDS43708.1																																																																																				0.658	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			24	48	0	0	0	0.004672	0	24	48				
C8orf74	203076	broad.mit.edu	37	8	10555264	10555264	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:10555264C>A	ENST00000304519.5	+	3	426	c.397C>A	c.(397-399)Cag>Aag	p.Q133K	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	133										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		GGGCCAGGACCAGCAGGTCGA	0.617																																							uc003wtd.1		NA																	0					0						c.(397-399)CAG>AAG		hypothetical protein LOC203076							162.0	168.0	166.0					8																	10555264		2133	4227	6360	SO:0001583	missense	203076							g.chr8:10555264C>A	BC038534	CCDS47800.1	8p23.1	2012-04-17			ENSG00000171060	ENSG00000171060			32296	protein-coding gene	gene with protein product							Standard	NM_001040032		Approved		uc003wtd.1	Q6P047	OTTHUMG00000163807	ENST00000304519.5:c.397C>A	8.37:g.10555264C>A	ENSP00000307129:p.Gln133Lys					C8orf74_uc003wte.1_RNA	p.Q133K	NM_001040032	NP_001035121	Q6P047	CH074_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	3	426	+			133					A2RUD6	Missense_Mutation	SNP	ENST00000304519.5	37	c.397C>A	CCDS47800.1	.	.	.	.	.	.	.	.	.	.	C	5.003	0.186230	0.09495	.	.	ENSG00000171060	ENST00000304519	T	0.33654	1.4	5.2	5.2	0.72013	.	0.662632	0.14330	N	0.326446	T	0.40619	0.1124	M	0.69823	2.125	0.09310	N	1	P	0.34587	0.458	B	0.35039	0.194	T	0.32587	-0.9901	10	0.33141	T	0.24	.	14.3025	0.66362	0.0:1.0:0.0:0.0	.	133	Q6P047	CH074_HUMAN	K	133	ENSP00000307129:Q133K	ENSP00000307129:Q133K	Q	+	1	0	C8orf74	10592674	0.014000	0.17966	0.202000	0.23494	0.035000	0.12851	1.942000	0.40243	2.458000	0.83093	0.556000	0.70494	CAG		0.617	C8orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375675.1	NM_001040032		61	180	1	0	1.17954e-47	0.00361	2.18156e-47	61	180				
SOX7	83595	broad.mit.edu	37	8	10583411	10583411	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:10583411T>C	ENST00000304501.1	-	2	1082	c.1004A>G	c.(1003-1005)tAt>tGt	p.Y335C	SOX7_ENST00000553390.1_Missense_Mutation_p.Y387C|SOX7_ENST00000554914.1_Missense_Mutation_p.Y387C	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	335	Sox C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00849}.				endoderm formation (GO:0001706)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|regulation of canonical Wnt signaling pathway (GO:0060828)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		AGTGTTCAAATACTGGTCGAA	0.617																																							uc003wtf.2		NA																	0				breast(1)	1						c.(1003-1005)TAT>TGT		SRY-box 7							95.0	86.0	89.0					8																	10583411		2203	4300	6503	SO:0001583	missense	83595				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding	g.chr8:10583411T>C	AJ409320	CCDS5977.1	8p22	2013-01-25			ENSG00000171056	ENSG00000171056		"""SRY (sex determining region Y)-boxes"""	18196	protein-coding gene	gene with protein product		612202				11691915	Standard	NM_031439		Approved		uc003wtf.3	Q9BT81	OTTHUMG00000090585	ENST00000304501.1:c.1004A>G	8.37:g.10583411T>C	ENSP00000301921:p.Tyr335Cys					SOX7_uc011kwz.1_Missense_Mutation_p.Y387C	p.Y335C	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN		COAD - Colon adenocarcinoma(149;0.0732)	2	1083	-			335			Sox C-terminal.		B4DKV0|Q53YD0	Missense_Mutation	SNP	ENST00000304501.1	37	c.1004A>G	CCDS5977.1	.	.	.	.	.	.	.	.	.	.	T	19.40	3.820376	0.71028	.	.	ENSG00000171056;ENSG00000171056;ENSG00000258724	ENST00000304501;ENST00000553390;ENST00000554914	D;D;D	0.90900	-2.75;-2.75;-2.75	4.64	4.64	0.57946	.	0.000000	0.85682	U	0.000000	D	0.95449	0.8522	M	0.86651	2.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.95797	0.8829	10	0.59425	D	0.04	.	13.3977	0.60863	0.0:0.0:0.0:1.0	.	387;335	B4DKV0;Q9BT81	.;SOX7_HUMAN	C	335;387;387	ENSP00000301921:Y335C;ENSP00000452017:Y387C;ENSP00000451145:Y387C	ENSP00000346908:Y387C	Y	-	2	0	SOX7;CTD-2135J3.4	10620821	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.809000	0.86057	1.932000	0.55993	0.459000	0.35465	TAT		0.617	SOX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207131.1			10	30	0	0	0	0.001855	0	10	30				
DOK2	9046	broad.mit.edu	37	8	21768283	21768283	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:21768283C>A	ENST00000276420.4	-	4	777	c.519G>T	c.(517-519)cgG>cgT	p.R173R	DOK2_ENST00000544659.1_Silent_p.R19R	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN	docking protein 2, 56kDa	173	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|leukocyte migration (GO:0050900)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)	receptor signaling protein activity (GO:0005057)	p.R173R(2)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		TCTCCCCAGCCCGGAGGGTAT	0.642																																							uc003wzy.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(517-519)CGG>CGT		docking protein 2							31.0	35.0	33.0					8																	21768283		2203	4300	6503	SO:0001819	synonymous_variant	9046				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding	g.chr8:21768283C>A	AF034970	CCDS6016.1	8p21.3	2008-08-07	2002-08-29		ENSG00000147443	ENSG00000147443			2991	protein-coding gene	gene with protein product		604997	"""docking protein 2, 56kD"""			9478921, 14645010	Standard	NM_003974		Approved	p56dok-2, Dok-2	uc003wzy.1	O60496	OTTHUMG00000131075	ENST00000276420.4:c.519G>T	8.37:g.21768283C>A						DOK2_uc003wzx.1_Silent_p.R173R|DOK2_uc003wzz.1_Silent_p.R19R|DOK2_uc010lth.1_Silent_p.R19R	p.R173R	NM_003974	NP_003965	O60496	DOK2_HUMAN		Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)	4	612	-			173			IRS-type PTB.		Q8N5A4	Silent	SNP	ENST00000276420.4	37	c.519G>T	CCDS6016.1																																																																																				0.642	DOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253735.3	NM_003974		8	17	1	0	0.000274275	0.004482	0.000304364	8	17				
BMP1	649	broad.mit.edu	37	8	22035416	22035417	+	Missense_Mutation	DNP	GG	GG	CT			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:22035416_22035417GG>CT	ENST00000306385.5	+	6	1452_1453	c.782_783GG>CT	c.(781-783)gGG>gCT	p.G261A	BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000306349.8_Missense_Mutation_p.G261A|BMP1_ENST00000397814.3_Missense_Mutation_p.G261A|BMP1_ENST00000397816.3_Missense_Mutation_p.G261A	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	261	Metalloprotease.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GAGTCCCTGGGGGAGACCTATG	0.609																																							uc003xbg.2		NA																	0				ovary(2)|breast(1)	3						c.(781-783)GGG>GCT		bone morphogenetic protein 1 isoform 3																																				SO:0001583	missense	649				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	g.chr8:22035416_22035417GG>CT		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	Exception_encountered	8.37:g.22035416_22035417delinsCT	ENSP00000305714:p.Gly261Ala					BMP1_uc011kzb.1_RNA|BMP1_uc003xba.2_Missense_Mutation_p.G261A|BMP1_uc003xbb.2_Missense_Mutation_p.G261A|BMP1_uc003xbe.2_RNA|BMP1_uc003xbc.2_Missense_Mutation_p.G10A|BMP1_uc003xbd.2_RNA|BMP1_uc003xbf.2_Missense_Mutation_p.G10A|BMP1_uc011kzc.1_Missense_Mutation_p.G10A|BMP1_uc003xbh.2_RNA|BMP1_uc003xbi.2_RNA	p.G261A	NM_006129	NP_006120	P13497	BMP1_HUMAN		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)	6	1026_1027	+			261			Metalloprotease.		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	DNP	ENST00000306385.5	37	c.782_783GG>CT	CCDS6026.1																																																																																				0.609	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		30	133	0	0	0	0.004672	0	30	133				
PIWIL2	55124	broad.mit.edu	37	8	22138988	22138988	+	Missense_Mutation	SNP	G	G	T	rs553040846		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:22138988G>T	ENST00000454009.2	+	4	894	c.385G>T	c.(385-387)Ggg>Tgg	p.G129W	PIWIL2_ENST00000356766.6_Missense_Mutation_p.G129W|PIWIL2_ENST00000521356.1_Missense_Mutation_p.G129W	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	129					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		GTTGGCGGCTGGGGACAGCAA	0.488																																							uc003xbn.2		NA																	0				skin(1)	1						c.(385-387)GGG>TGG		piwi-like 2							97.0	102.0	100.0					8																	22138988		2203	4300	6503	SO:0001583	missense	55124				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding	g.chr8:22138988G>T	AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"""Argonaute/PIWI family"""	17644	protein-coding gene	gene with protein product	"""Hiwi-like"", ""cancer/testis antigen 80"""	610312	"""piwi-like 2 (Drosophila)"""			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.385G>T	8.37:g.22138988G>T	ENSP00000406956:p.Gly129Trp					PIWIL2_uc011kzf.1_Missense_Mutation_p.G129W|PIWIL2_uc010ltv.2_Missense_Mutation_p.G129W	p.G129W	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN		Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)	4	533	+			129					A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	ENST00000454009.2	37	c.385G>T	CCDS6029.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.267374	0.40095	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.05199	3.49;3.48;3.49	5.55	4.68	0.58851	.	0.269956	0.31531	N	0.007485	T	0.06005	0.0156	L	0.29908	0.895	0.38995	D	0.959235	B;B	0.15719	0.014;0.014	B;B	0.06405	0.002;0.002	T	0.24584	-1.0156	10	0.49607	T	0.09	.	11.5605	0.50774	0.0843:0.0:0.9157:0.0	.	129;129	E7ECA4;Q8TC59	.;PIWL2_HUMAN	W	129	ENSP00000349208:G129W;ENSP00000428267:G129W;ENSP00000406956:G129W	ENSP00000349208:G129W	G	+	1	0	PIWIL2	22194933	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	3.597000	0.54031	1.352000	0.45808	0.561000	0.74099	GGG		0.488	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1			11	40	1	0	3.07112e-06	0.000978	3.69777e-06	11	40				
FBXO16	157574	broad.mit.edu	37	8	28321313	28321313	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:28321313T>C	ENST00000380254.2	-	4	306	c.158A>G	c.(157-159)cAa>cGa	p.Q53R	FBXO16_ENST00000518734.1_Missense_Mutation_p.Q41R|FBXO16_ENST00000346498.2_Missense_Mutation_p.Q41R|FBXO16_ENST00000517436.1_5'UTR	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN	F-box protein 16	53										large_intestine(2)|ovary(1)	3		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		TCTTCTTCTTTGAGAGTCTGT	0.438																																							uc003xgu.2		NA																	0				ovary(1)	1						c.(157-159)CAA>CGA		F-box only protein 16							42.0	43.0	43.0					8																	28321313		2203	4300	6503	SO:0001583	missense	157574							g.chr8:28321313T>C	AF453435	CCDS6068.1, CCDS59099.1	8p21.1	2008-02-05	2004-06-15		ENSG00000214050	ENSG00000214050		"""F-boxes /  ""other"""""	13618	protein-coding gene	gene with protein product		608519	"""F-box only protein 16"""			12243353	Standard	NM_172366		Approved	FBX16	uc003xgu.4	Q8IX29	OTTHUMG00000102147	ENST00000380254.2:c.158A>G	8.37:g.28321313T>C	ENSP00000369604:p.Gln53Arg					ZNF395_uc003xgt.2_5'UTR|FBXO16_uc003xgv.2_Missense_Mutation_p.Q40R|FBXO16_uc003xgw.2_Missense_Mutation_p.Q40R	p.Q53R	NM_172366	NP_758954	Q8IX29	FBX16_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)	4	256	-		Ovarian(32;2.06e-05)	53					Q3T1B2|Q3T1B3|Q3T1B4	Missense_Mutation	SNP	ENST00000380254.2	37	c.158A>G	CCDS6068.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.324797	0.81580	.	.	ENSG00000214050	ENST00000380254;ENST00000346498;ENST00000518734;ENST00000517673	T;T;T;T	0.52754	2.09;2.09;2.12;0.65	5.78	5.78	0.91487	.	0.000000	0.64402	U	0.000001	T	0.66396	0.2785	M	0.77820	2.39	0.80722	D	1	D;D;D	0.65815	0.995;0.995;0.995	P;P;P	0.58928	0.848;0.848;0.848	T	0.71217	-0.4658	10	0.87932	D	0	-29.2373	15.5859	0.76482	0.0:0.0:0.0:1.0	.	41;41;53	Q3T1B3;Q3T1B2;Q8IX29	.;.;FBX16_HUMAN	R	53;41;41;53	ENSP00000369604:Q53R;ENSP00000341416:Q41R;ENSP00000429687:Q41R;ENSP00000429390:Q53R	ENSP00000341416:Q41R	Q	-	2	0	FBXO16	28377232	1.000000	0.71417	0.987000	0.45799	0.950000	0.60333	7.687000	0.84139	2.333000	0.79357	0.482000	0.46254	CAA		0.438	FBXO16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219988.2	NM_172366		12	23	0	0	0	0.004007	0	12	23				
GSR	2936	broad.mit.edu	37	8	30567405	30567405	+	Silent	SNP	T	T	A	rs200328808		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:30567405T>A	ENST00000221130.5	-	3	438	c.348A>T	c.(346-348)acA>acT	p.T116T	GSR_ENST00000541648.1_Silent_p.T116T|GSR_ENST00000546342.1_Silent_p.T116T|GSR_ENST00000537535.1_Silent_p.T116T|GSR_ENST00000414019.1_Silent_p.T73T	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	P00390	GSHR_HUMAN	glutathione reductase	116					cell redox homeostasis (GO:0045454)|glutathione metabolic process (GO:0006749)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|glutathione-disulfide reductase activity (GO:0004362)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Flavin adenine dinucleotide(DB03147)|Glutathione(DB00143)	AGTGGACAGCTGTGTTCCACA	0.383																																							uc003xih.1		NA																	0				ovary(2)|pancreas(2)|central_nervous_system(1)	5						c.(346-348)ACA>ACT		glutathione reductase precursor	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)						72.0	63.0	67.0					8																	30567405		2203	4300	6503	SO:0001819	synonymous_variant	2936				cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity	g.chr8:30567405T>A		CCDS34877.1, CCDS56530.1, CCDS56531.1, CCDS56532.1	8p21.1	2012-10-02			ENSG00000104687	ENSG00000104687	1.8.1.7		4623	protein-coding gene	gene with protein product		138300					Standard	NM_000637		Approved		uc003xih.2	P00390	OTTHUMG00000163946	ENST00000221130.5:c.348A>T	8.37:g.30567405T>A							p.T116T	NM_000637	NP_000628	P00390	GSHR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	3	439	-			116					C8KIL8|C8KIL9|C8KIM0|D3DSV3|Q7Z5C9|Q9NP63	Silent	SNP	ENST00000221130.5	37	c.348A>T	CCDS34877.1	.	.	.	.	.	.	.	.	.	.	T	10.79	1.448485	0.26074	.	.	ENSG00000104687	ENST00000520888	.	.	.	5.5	-6.23	0.02052	.	.	.	.	.	T	0.46927	0.1418	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48091	-0.9065	4	.	.	.	-14.9476	6.6377	0.22891	0.3222:0.4542:0.0:0.2236	.	.	.	.	C	72	.	.	S	-	1	0	GSR	30686947	0.431000	0.25546	0.899000	0.35326	0.988000	0.76386	-0.473000	0.06615	-1.267000	0.02443	0.482000	0.46254	AGC		0.383	GSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376519.1			6	17	0	0	0	0.001168	0	6	17				
TEX15	56154	broad.mit.edu	37	8	30705252	30705252	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:30705252C>T	ENST00000256246.2	-	1	1356	c.1282G>A	c.(1282-1284)Gaa>Aaa	p.E428K	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	428					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GGTTCATTTTCATTTTTCCTA	0.338																																							uc003xil.2		NA																	0				ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7						c.(1282-1284)GAA>AAA		testis expressed 15							136.0	136.0	136.0					8																	30705252		2203	4299	6502	SO:0001583	missense	56154							g.chr8:30705252C>T	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.1282G>A	8.37:g.30705252C>T	ENSP00000256246:p.Glu428Lys						p.E428K	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	1282	-			428						Missense_Mutation	SNP	ENST00000256246.2	37	c.1282G>A	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.602387	0.28534	.	.	ENSG00000133863	ENST00000256246	T	0.12672	2.66	5.61	4.72	0.59763	.	0.190417	0.36815	N	0.002385	T	0.17023	0.0409	L	0.32530	0.975	0.28534	N	0.912457	D	0.53312	0.959	P	0.51615	0.675	T	0.02893	-1.1097	10	0.87932	D	0	.	9.7488	0.40464	0.1588:0.6882:0.153:0.0	.	428	Q9BXT5	TEX15_HUMAN	K	428	ENSP00000256246:E428K	ENSP00000256246:E428K	E	-	1	0	TEX15	30824794	0.974000	0.33945	0.164000	0.22755	0.054000	0.15201	0.194000	0.17135	1.497000	0.48584	0.650000	0.86243	GAA		0.338	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			15	81	0	0	0	0.003163	0	15	81				
NRG1	3084	broad.mit.edu	37	8	32617782	32617782	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:32617782G>A	ENST00000405005.3	+	11	1126	c.1126G>A	c.(1126-1128)Gta>Ata	p.V376I	NRG1_ENST00000521670.1_Missense_Mutation_p.V376I|NRG1_ENST00000338921.4_Missense_Mutation_p.V384I|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000287842.3_Missense_Mutation_p.V373I|NRG1_ENST00000523079.1_Missense_Mutation_p.V373I|NRG1_ENST00000539990.1_Missense_Mutation_p.V219I|NRG1_ENST00000356819.4_Missense_Mutation_p.V381I|NRG1_ENST00000519301.1_Missense_Mutation_p.V326I|NRG1_ENST00000287845.5_Missense_Mutation_p.V347I			Q02297	NRG1_HUMAN	neuregulin 1	376					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.V381I(1)|p.V376I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GATGTCATCCGTAGAAAACAG	0.527																																							uc003xiv.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1126-1128)GTA>ATA		neuregulin 1 isoform HRG-alpha							122.0	124.0	124.0					8																	32617782		2203	4300	6503	SO:0001583	missense	3084				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr8:32617782G>A	L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.1126G>A	8.37:g.32617782G>A	ENSP00000384620:p.Val376Ile					NRG1_uc011lbf.1_Missense_Mutation_p.V373I|NRG1_uc010lvo.2_Missense_Mutation_p.V373I|NRG1_uc003xiu.2_Missense_Mutation_p.V381I|NRG1_uc003xiw.2_Missense_Mutation_p.V373I|NRG1_uc003xit.2_Missense_Mutation_p.V376I|NRG1_uc010lvr.2_Missense_Mutation_p.V118I|NRG1_uc010lvs.2_Missense_Mutation_p.V118I|NRG1_uc010lvp.2_Missense_Mutation_p.V330I|NRG1_uc010lvq.2_Missense_Mutation_p.V313I|NRG1_uc011lbg.1_Missense_Mutation_p.V222I|NRG1_uc011lbh.1_Missense_Mutation_p.V219I|NRG1_uc003xja.2_Missense_Mutation_p.V187I	p.V376I	NM_013964	NP_039258	Q02297	NRG1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)	11	1643	+		Breast(100;0.203)	376			Cytoplasmic (Potential).		A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	ENST00000405005.3	37	c.1126G>A	CCDS6085.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.608322	0.46527	.	.	ENSG00000157168	ENST00000518104;ENST00000519301;ENST00000523534;ENST00000523079;ENST00000338921;ENST00000356819;ENST00000287840;ENST00000287845;ENST00000287842;ENST00000405005;ENST00000521670;ENST00000539990	T;T;T;T;T;T;T;T;T;T;T;T	0.60548	0.18;0.18;0.18;0.18;0.18;0.18;0.18;0.18;0.18;0.18;0.18;0.18	5.92	4.87	0.63330	Neuregulin 1-related, C-terminal (1);	0.197871	0.42821	D	0.000645	T	0.46795	0.1411	L	0.33485	1.01	0.42253	D	0.991984	B;B;B;B;B;B;B;B;B;B;B	0.28880	0.008;0.046;0.032;0.011;0.025;0.057;0.226;0.011;0.014;0.02;0.083	B;B;B;B;B;B;B;B;B;B;B	0.24394	0.016;0.053;0.032;0.013;0.021;0.047;0.03;0.013;0.032;0.013;0.047	T	0.49485	-0.8935	10	0.56958	D	0.05	-3.3318	14.8065	0.69959	0.1202:0.0:0.8798:0.0	.	219;222;373;347;381;372;384;373;376;381;376	B7Z1E3;B7Z1D7;E9PHH4;F8W9E3;Q7RTW4;B0FYA9;Q02297-2;Q02297-7;Q02297;Q02297-6;Q02297-3	.;.;.;.;.;.;.;.;NRG1_HUMAN;.;.	I	343;326;449;373;384;381;376;347;373;376;376;219	ENSP00000430053:V343I;ENSP00000429582:V326I;ENSP00000429067:V449I;ENSP00000430120:V373I;ENSP00000343395:V384I;ENSP00000349275:V381I;ENSP00000287840:V376I;ENSP00000287845:V347I;ENSP00000287842:V373I;ENSP00000384620:V376I;ENSP00000428828:V376I;ENSP00000439276:V219I	ENSP00000287840:V376I	V	+	1	0	NRG1	32737324	1.000000	0.71417	0.951000	0.38953	0.542000	0.35054	5.882000	0.69714	2.804000	0.96469	0.655000	0.94253	GTA		0.527	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1			35	98	0	0	0	0.002522	0	35	98				
RNF122	79845	broad.mit.edu	37	8	33416289	33416289	+	Splice_Site	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:33416289C>A	ENST00000256257.1	-	2	427	c.26G>T	c.(25-27)gGg>gTg	p.G9V		NM_024787.2	NP_079063.2	Q9H9V4	RN122_HUMAN	ring finger protein 122	9						endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116)		ACAGAAACACCCTGCAAAGGG	0.488																																							uc003xjo.1		NA																	0					0						c.(25-27)GGG>GTG		ring finger protein 122							70.0	72.0	71.0					8																	33416289		2203	4300	6503	SO:0001630	splice_region_variant	79845					endoplasmic reticulum|Golgi apparatus|integral to membrane	zinc ion binding	g.chr8:33416289C>A	AK022588	CCDS6091.1	8p12	2013-01-09			ENSG00000133874	ENSG00000133874		"""RING-type (C3HC4) zinc fingers"""	21147	protein-coding gene	gene with protein product							Standard	NM_024787		Approved	FLJ12526	uc003xjo.1	Q9H9V4	OTTHUMG00000163960	ENST00000256257.1:c.26-1G>T	8.37:g.33416289C>A							p.G9V	NM_024787	NP_079063	Q9H9V4	RN122_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116)	2	428	-			9					Q52LK3	Missense_Mutation	SNP	ENST00000256257.1	37	c.26G>T	CCDS6091.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.069928	0.76301	.	.	ENSG00000133874	ENST00000256257	T	0.32753	1.44	5.08	5.08	0.68730	.	0.057273	0.64402	D	0.000001	T	0.49915	0.1585	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.67103	0.949	T	0.50783	-0.8787	10	0.87932	D	0	.	14.0911	0.64990	0.0:0.849:0.151:0.0	.	9	Q9H9V4	RN122_HUMAN	V	9	ENSP00000256257:G9V	ENSP00000256257:G9V	G	-	2	0	RNF122	33535831	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.524000	0.67105	2.507000	0.84556	0.655000	0.94253	GGG		0.488	RNF122-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376562.1	NM_024787	Missense_Mutation	7	23	1	0	5.18039e-06	0.00308	6.18734e-06	7	23				
KCNU1	157855	broad.mit.edu	37	8	36793066	36793066	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:36793066G>A	ENST00000399881.3	+	27	3115	c.3078G>A	c.(3076-3078)aaG>aaA	p.K1026K		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	1026					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ATGAGTTCAAGCTGCTGCCTT	0.448																																							uc010lvw.2		NA																	0				ovary(1)	1						c.(3076-3078)AAG>AAA		potassium channel, subfamily U, member 1							126.0	122.0	123.0					8																	36793066		1932	4154	6086	SO:0001819	synonymous_variant	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36793066G>A	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.3078G>A	8.37:g.36793066G>A							p.K1026K	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	27	3165	+			1026			Cytoplasmic (Potential).			Silent	SNP	ENST00000399881.3	37	c.3078G>A	CCDS55220.1																																																																																				0.448	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		40	73	0	0	0	0.00361	0	40	73				
GPR124	25960	broad.mit.edu	37	8	37687411	37687411	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:37687411C>T	ENST00000412232.2	+	6	610	c.597C>T	c.(595-597)cgC>cgT	p.R199R	GPR124_ENST00000315215.7_Silent_p.R199R	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	199	LRRCT.				central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GCCACCTGCGCTGGCTGCTGC	0.667																																							uc003xkj.2		NA																	0				large_intestine(2)|ovary(2)|skin(1)	5						c.(595-597)CGC>CGT		G protein-coupled receptor 124 precursor							44.0	44.0	44.0					8																	37687411		2202	4298	6500	SO:0001819	synonymous_variant	25960				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr8:37687411C>T	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.597C>T	8.37:g.37687411C>T						GPR124_uc010lvy.2_Silent_p.R199R	p.R199R	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		6	960	+			199			Extracellular (Potential).|LRRCT.		A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Silent	SNP	ENST00000412232.2	37	c.597C>T	CCDS6097.2																																																																																				0.667	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			20	54	0	0	0	0.00333	0	20	54				
ANK1	286	broad.mit.edu	37	8	41530083	41530083	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:41530083C>A	ENST00000347528.4	-	38	4968	c.4885G>T	c.(4885-4887)Gat>Tat	p.D1629Y	ANK1_ENST00000396942.1_Missense_Mutation_p.D1629Y|ANK1_ENST00000352337.4_Missense_Mutation_p.D1629Y|ANK1_ENST00000289734.7_Missense_Mutation_p.D1629Y|ANK1_ENST00000396945.1_Missense_Mutation_p.D1629Y|ANK1_ENST00000379758.2_Missense_Mutation_p.D1629Y|ANK1_ENST00000265709.8_Missense_Mutation_p.D1670Y	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1629	55 kDa regulatory domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TTTGTGGCATCTGAATCCACT	0.567																																							uc003xok.2		NA																	0				ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9						c.(4885-4887)GAT>TAT		ankyrin 1 isoform 1							198.0	186.0	190.0					8																	41530083		2203	4300	6503	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41530083C>A	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.4885G>T	8.37:g.41530083C>A	ENSP00000339620:p.Asp1629Tyr					NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Intron|ANK1_uc003xoi.2_Missense_Mutation_p.D1629Y|ANK1_uc003xoj.2_Missense_Mutation_p.D1629Y|ANK1_uc003xol.2_Intron|ANK1_uc003xom.2_Missense_Mutation_p.D1670Y	p.D1629Y	NM_020476	NP_065209	P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		38	4969	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	1629			55 kDa regulatory domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.4885G>T	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.153265	0.78114	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709	T;T;T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7;0.7;0.7	5.24	5.24	0.73138	.	0.222920	0.36972	N	0.002301	T	0.61776	0.2374	L	0.46157	1.445	0.58432	D	0.999995	D;D;D;D	0.67145	0.996;0.984;0.991;0.996	D;P;P;D	0.64776	0.929;0.804;0.904;0.929	T	0.60885	-0.7174	10	0.49607	T	0.09	.	18.2711	0.90069	0.0:1.0:0.0:0.0	.	1670;1629;1629;1629	P16157-21;P16157;P16157-5;P16157-3	.;ANK1_HUMAN;.;.	Y	1629;1629;1629;1629;1629;1629;1670	ENSP00000339620:D1629Y;ENSP00000289734:D1629Y;ENSP00000369082:D1629Y;ENSP00000380149:D1629Y;ENSP00000380147:D1629Y;ENSP00000309131:D1629Y;ENSP00000265709:D1670Y	ENSP00000265709:D1670Y	D	-	1	0	ANK1	41649240	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.725000	0.68507	2.635000	0.89317	0.552000	0.68991	GAT		0.567	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		49	129	1	0	1.00776e-21	0.00361	1.70288e-21	49	129				
ANK1	286	broad.mit.edu	37	8	41580669	41580669	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:41580669C>A	ENST00000347528.4	-	9	966	c.883G>T	c.(883-885)Ggg>Tgg	p.G295W	ANK1_ENST00000396942.1_Missense_Mutation_p.G295W|ANK1_ENST00000352337.4_Missense_Mutation_p.G295W|ANK1_ENST00000289734.7_Missense_Mutation_p.G295W|ANK1_ENST00000396945.1_Missense_Mutation_p.G295W|ANK1_ENST00000379758.2_Missense_Mutation_p.G295W|ANK1_ENST00000265709.8_Missense_Mutation_p.G328W	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	295	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.G295W(1)|p.G328W(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			ATTGGTGCCCCGTGGTCCAGC	0.502																																							uc003xok.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9						c.(883-885)GGG>TGG		ankyrin 1 isoform 1							148.0	127.0	134.0					8																	41580669		2203	4300	6503	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41580669C>A	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.883G>T	8.37:g.41580669C>A	ENSP00000339620:p.Gly295Trp					NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Missense_Mutation_p.G295W|ANK1_uc003xoj.2_Missense_Mutation_p.G295W|ANK1_uc003xol.2_Missense_Mutation_p.G295W|ANK1_uc003xom.2_Missense_Mutation_p.G328W	p.G295W	NM_020476	NP_065209	P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		9	967	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	295			ANK 8.|89 kDa domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.883G>T	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458956	0.84317	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	D;D;D;D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56	5.41	4.53	0.55603	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.93442	0.7908	H	0.95745	3.715	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;1.0;1.0	D	0.94988	0.8132	10	0.87932	D	0	.	14.1065	0.65093	0.0:0.9272:0.0:0.0728	.	328;295;295;295;295	P16157-21;P16157-4;P16157;P16157-5;P16157-3	.;.;ANK1_HUMAN;.;.	W	295;295;295;295;295;295;328;295	ENSP00000339620:G295W;ENSP00000289734:G295W;ENSP00000369082:G295W;ENSP00000380149:G295W;ENSP00000380147:G295W;ENSP00000309131:G295W;ENSP00000265709:G328W	ENSP00000265709:G328W	G	-	1	0	ANK1	41699826	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	6.070000	0.71220	1.287000	0.44583	0.655000	0.94253	GGG		0.502	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		23	70	1	0	1.16021e-09	0.007291	1.58715e-09	23	70				
IKBKB	3551	broad.mit.edu	37	8	42146232	42146232	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:42146232C>T	ENST00000520810.1	+	3	372	c.186C>T	c.(184-186)atC>atT	p.I62I	IKBKB_ENST00000519735.1_Silent_p.I62I|IKBKB_ENST00000379708.3_Intron|IKBKB_ENST00000416505.2_Intron|IKBKB_ENST00000520835.1_Silent_p.I60I|IKBKB_ENST00000522147.1_Intron	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	62	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	GCCTGGAGATCCAGATCATGA	0.602																																							uc003xow.1		NA																	0				breast(3)|ovary(2)|lung(1)|skin(1)	7						c.(184-186)ATC>ATT		inhibitor of nuclear factor kappa B kinase beta	Arsenic trioxide(DB01169)|Auranofin(DB00995)						44.0	38.0	40.0					8																	42146232		2203	4299	6502	SO:0001819	synonymous_variant	3551				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity	g.chr8:42146232C>T	AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.186C>T	8.37:g.42146232C>T						IKBKB_uc003xov.2_Silent_p.I62I|IKBKB_uc010lxh.1_Intron|IKBKB_uc011lco.1_Intron|IKBKB_uc010lxj.1_Intron|IKBKB_uc003xox.1_5'UTR|IKBKB_uc011lcp.1_RNA|IKBKB_uc011lcq.1_Silent_p.I60I|IKBKB_uc010lxi.1_RNA|IKBKB_uc011lcr.1_Intron	p.I62I	NM_001556	NP_001547	O14920	IKKB_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		3	363	+	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	62			Protein kinase.		B4DZ30|B4E0U4|O75327	Silent	SNP	ENST00000520810.1	37	c.186C>T	CCDS6128.1																																																																																				0.602	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1			6	11	0	0	0	0.001984	0	6	11				
PRKDC	5591	broad.mit.edu	37	8	48689479	48689479	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:48689479T>A	ENST00000314191.2	-	86	12161	c.12105A>T	c.(12103-12105)aaA>aaT	p.K4035N	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.K4004N	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	4036					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GGTACCAATTTTTTTCAGCAA	0.358								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.2		NA																	0				lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34						c.(12106-12108)AAA>AAT	NHEJ	protein kinase, DNA-activated, catalytic							136.0	122.0	126.0					8																	48689479		1819	4070	5889	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48689479T>A		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.12105A>T	8.37:g.48689479T>A	ENSP00000313420:p.Lys4035Asn					PRKDC_uc003xqj.2_Missense_Mutation_p.K4005N|PRKDC_uc011ldh.1_Intron	p.K4036N	NM_006904	NP_008835	P78527	PRKDC_HUMAN			86	12165	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	4036					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.12108A>T		.	.	.	.	.	.	.	.	.	.	T	13.22	2.172611	0.38413	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.80824	-1.42;-1.42	5.76	-2.05	0.07321	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.504100	0.22763	N	0.055925	T	0.64702	0.2622	L	0.40543	1.245	0.30725	N	0.747818	B;B	0.16396	0.009;0.017	B;B	0.17979	0.009;0.02	T	0.50915	-0.8771	10	0.20519	T	0.43	.	5.7237	0.18000	0.0:0.3435:0.265:0.3915	.	4004;4036	E7EUY0;P78527	.;PRKDC_HUMAN	N	4035;4004	ENSP00000313420:K4035N;ENSP00000345182:K4004N	ENSP00000313420:K4035N	K	-	3	2	PRKDC	48852032	0.999000	0.42202	0.992000	0.48379	0.994000	0.84299	0.412000	0.21131	-0.142000	0.11354	0.528000	0.53228	AAA		0.358	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		15	18	0	0	0	0.00499	0	15	18				
SNTG1	54212	broad.mit.edu	37	8	51617258	51617258	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:51617258C>T	ENST00000522124.1	+	16	1798	c.1137C>T	c.(1135-1137)gcC>gcT	p.A379A	SNTG1_ENST00000518864.1_Silent_p.A379A|SNTG1_ENST00000517473.1_Silent_p.A379A|SNTG1_ENST00000276467.5_Silent_p.A379A	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	379	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GTGACCTCGCCCAGTGGGAAA	0.552																																							uc010lxy.1		NA																	0				ovary(5)	5						c.(1135-1137)GCC>GCT		syntrophin, gamma 1							117.0	95.0	103.0					8																	51617258		2203	4300	6503	SO:0001819	synonymous_variant	54212				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	g.chr8:51617258C>T	AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.1137C>T	8.37:g.51617258C>T						SNTG1_uc003xqs.1_Silent_p.A379A|SNTG1_uc010lxz.1_Silent_p.A379A|SNTG1_uc011ldl.1_RNA	p.A379A	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN			17	1508	+		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)	379			PH.		Q2M3Q0|Q9NY98	Silent	SNP	ENST00000522124.1	37	c.1137C>T	CCDS6147.1																																																																																				0.552	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1			37	33	0	0	0	0.005524	0	37	33				
SNTG1	54212	broad.mit.edu	37	8	51705290	51705290	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:51705290C>A	ENST00000522124.1	+	19	2116	c.1455C>A	c.(1453-1455)gcC>gcA	p.A485A	SNTG1_ENST00000518864.1_Silent_p.A485A|SNTG1_ENST00000517473.1_Silent_p.A448A|SNTG1_ENST00000276467.5_Silent_p.A448A	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	485					cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TCTTTGCTGCCAAGGTAGCTT	0.398																																							uc010lxy.1		NA																	0				ovary(5)	5						c.(1453-1455)GCC>GCA		syntrophin, gamma 1							200.0	190.0	193.0					8																	51705290		2203	4300	6503	SO:0001819	synonymous_variant	54212				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	g.chr8:51705290C>A	AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.1455C>A	8.37:g.51705290C>A						SNTG1_uc003xqs.1_Silent_p.A485A|SNTG1_uc010lxz.1_Silent_p.A448A|SNTG1_uc011ldl.1_RNA	p.A485A	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN			20	1826	+		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)	485					Q2M3Q0|Q9NY98	Silent	SNP	ENST00000522124.1	37	c.1455C>A	CCDS6147.1																																																																																				0.398	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1			19	141	1	0	9.7654e-05	0.007413	0.000110595	19	141				
SNTG1	54212	broad.mit.edu	37	8	51705359	51705359	+	Silent	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:51705359T>A	ENST00000522124.1	+	19	2185	c.1524T>A	c.(1522-1524)gcT>gcA	p.A508A	SNTG1_ENST00000518864.1_Silent_p.A508A|SNTG1_ENST00000517473.1_Silent_p.A471A|SNTG1_ENST00000276467.5_Silent_p.A471A	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	508					cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				CCAGCTCTGCTACCACGAGCA	0.428																																							uc010lxy.1		NA																	0				ovary(5)	5						c.(1522-1524)GCT>GCA		syntrophin, gamma 1							155.0	142.0	147.0					8																	51705359		2203	4300	6503	SO:0001819	synonymous_variant	54212				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	g.chr8:51705359T>A	AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.1524T>A	8.37:g.51705359T>A						SNTG1_uc003xqs.1_Silent_p.A508A|SNTG1_uc010lxz.1_Silent_p.A471A|SNTG1_uc011ldl.1_RNA	p.A508A	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN			20	1895	+		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)	508					Q2M3Q0|Q9NY98	Silent	SNP	ENST00000522124.1	37	c.1524T>A	CCDS6147.1																																																																																				0.428	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1			66	69	0	0	0	0.00361	0	66	69				
PXDNL	137902	broad.mit.edu	37	8	52232491	52232491	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:52232491C>G	ENST00000356297.4	-	23	4452	c.4352G>C	c.(4351-4353)aGa>aCa	p.R1451T	RP11-401H2.1_ENST00000521294.1_RNA|PXDNL_ENST00000543296.1_3'UTR	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1451	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TCCTCGGTCTCTGCAAACTGG	0.512																																							uc003xqu.3		NA																	0				ovary(1)|pancreas(1)	2						c.(4351-4353)AGA>ACA		peroxidasin homolog-like precursor							56.0	56.0	56.0					8																	52232491		1893	4102	5995	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52232491C>G		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.4352G>C	8.37:g.52232491C>G	ENSP00000348645:p.Arg1451Thr					PXDNL_uc003xqt.3_RNA	p.R1451T	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			23	4453	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	1451			VWFC.		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.4352G>C	CCDS47855.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.003|0.003	-2.480200|-2.480200	0.00165|0.00165	.|.	.|.	ENSG00000147485|ENSG00000147485	ENST00000522933|ENST00000356297	.|T	.|0.64438	.|-0.1	4.37|4.37	0.963|0.963	0.19649|0.19649	.|von Willebrand factor, type C (1);	.|.	.|.	.|.	.|.	T|T	0.36193|0.36193	0.0958|0.0958	N|N	0.21448|0.21448	0.665|0.665	0.19300|0.19300	N|N	0.999973|0.999973	.|B	.|0.13594	.|0.008	.|B	.|0.08055	.|0.003	T|T	0.27536|0.27536	-1.0071|-1.0071	5|9	.|0.02654	.|T	.|1	.|.	3.3356|3.3356	0.07100|0.07100	0.182:0.5525:0.1566:0.1089|0.182:0.5525:0.1566:0.1089	.|.	.|1451	.|A1KZ92	.|PXDNL_HUMAN	Q|T	525|1451	.|ENSP00000348645:R1451T	.|ENSP00000348645:R1451T	E|R	-|-	1|2	0|0	PXDNL|PXDNL	52395044|52395044	0.293000|0.293000	0.24371|0.24371	0.691000|0.691000	0.30163|0.30163	0.006000|0.006000	0.05464|0.05464	-0.594000|-0.594000	0.05733|0.05733	0.276000|0.276000	0.22118|0.22118	-0.176000|-0.176000	0.13171|0.13171	GAG|AGA		0.512	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		15	28	0	0	0	0.006122	0	15	28				
PXDNL	137902	broad.mit.edu	37	8	52366326	52366326	+	Silent	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:52366326G>T	ENST00000356297.4	-	10	1102	c.1002C>A	c.(1000-1002)atC>atA	p.I334I	PXDNL_ENST00000543296.1_Silent_p.I334I	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	334	Ig-like C2-type 2.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CCTGAGGCTGGATTACAAAGC	0.448																																							uc003xqu.3		NA																	0				ovary(1)|pancreas(1)	2						c.(1000-1002)ATC>ATA		peroxidasin homolog-like precursor							98.0	98.0	98.0					8																	52366326		1932	4132	6064	SO:0001819	synonymous_variant	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52366326G>T		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.1002C>A	8.37:g.52366326G>T							p.I334I	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			10	1103	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	334			Ig-like C2-type 2.		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Silent	SNP	ENST00000356297.4	37	c.1002C>A	CCDS47855.1																																																																																				0.448	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		14	83	1	0	1.45105e-14	0.006122	2.22216e-14	14	83				
ST18	9705	broad.mit.edu	37	8	53062531	53062531	+	Missense_Mutation	SNP	C	C	T	rs144486751		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:53062531C>T	ENST00000276480.7	-	16	2496	c.1813G>A	c.(1813-1815)Gaa>Aaa	p.E605K	RP11-26M5.3_ENST00000520496.1_RNA	NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	605					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				ACTTCTATTTCGGCTCCCTGG	0.398																																							uc003xqz.2		NA																	0				ovary(4)|skin(1)	5						c.(1813-1815)GAA>AAA		suppression of tumorigenicity 18		C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	179.0	170.0	173.0		1813	5.5	1.0	8	dbSNP_134	173	0,8600		0,0,4300	no	missense	ST18	NM_014682.2	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	605/1048	53062531	1,13005	2203	4300	6503	SO:0001583	missense	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53062531C>T	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.1813G>A	8.37:g.53062531C>T	ENSP00000276480:p.Glu605Lys					ST18_uc011ldq.1_Missense_Mutation_p.E252K|ST18_uc011ldr.1_Missense_Mutation_p.E570K|ST18_uc011lds.1_Missense_Mutation_p.E510K|ST18_uc003xra.2_Missense_Mutation_p.E605K|ST18_uc003xrb.2_Missense_Mutation_p.E605K	p.E605K	NM_014682	NP_055497	O60284	ST18_HUMAN			11	1969	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	605					Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	c.1813G>A	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.463755	0.84425	2.27E-4	0.0	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.49720	0.77;0.77	5.53	5.53	0.82687	Myelin transcription factor 1 (1);	0.293786	0.38778	N	0.001576	T	0.67239	0.2872	M	0.69823	2.125	0.41127	D	0.985857	D;D	0.76494	0.999;0.967	P;P	0.61722	0.893;0.454	T	0.69745	-0.5062	10	0.62326	D	0.03	-17.1646	19.4629	0.94924	0.0:1.0:0.0:0.0	.	605;605	E5RHS3;O60284	.;ST18_HUMAN	K	605	ENSP00000276480:E605K;ENSP00000428521:E605K	ENSP00000276480:E605K	E	-	1	0	ST18	53225084	0.995000	0.38212	1.000000	0.80357	0.983000	0.72400	2.268000	0.43338	2.612000	0.88384	0.460000	0.39030	GAA		0.398	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			4	105	0	0	0	0.001984	0	4	105				
XKR4	114786	broad.mit.edu	37	8	56436132	56436132	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:56436132C>A	ENST00000327381.6	+	3	1399	c.1299C>A	c.(1297-1299)ttC>ttA	p.F433L	RP11-628E19.2_ENST00000522918.1_RNA	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	433						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			AGATTGTGTTCGACATGGTGG	0.443																																							uc003xsf.2		NA																	0				pancreas(2)	2						c.(1297-1299)TTC>TTA		XK, Kell blood group complex subunit-related							228.0	210.0	216.0					8																	56436132		2203	4300	6503	SO:0001583	missense	114786					integral to membrane		g.chr8:56436132C>A	AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 4"""				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.1299C>A	8.37:g.56436132C>A	ENSP00000328326:p.Phe433Leu						p.F433L	NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Epithelial(17;0.000117)|all cancers(17;0.000836)		3	1331	+			433			Helical; (Potential).		Q96PZ8	Missense_Mutation	SNP	ENST00000327381.6	37	c.1299C>A	CCDS34893.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.277516	0.59758	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	T	0.61392	0.11	5.69	3.5	0.40072	.	0.000000	0.85682	D	0.000000	T	0.60508	0.2274	L	0.41573	1.285	0.53005	D	0.99996	D	0.61080	0.989	P	0.61800	0.894	T	0.55147	-0.8186	10	0.35671	T	0.21	-9.4539	8.7814	0.34794	0.0:0.5856:0.0:0.4144	.	433	Q5GH76	XKR4_HUMAN	L	433	ENSP00000328326:F433L	ENSP00000328326:F433L	F	+	3	2	XKR4	56598686	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	0.518000	0.22847	0.507000	0.28148	0.655000	0.94253	TTC		0.443	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		142	121	1	0	3.03755e-85	0.00361	5.71752e-85	142	121				
IMPAD1	54928	broad.mit.edu	37	8	57876397	57876397	+	Silent	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:57876397G>C	ENST00000262644.4	-	5	1293	c.1035C>G	c.(1033-1035)gcC>gcG	p.A345A		NM_017813.4	NP_060283.3	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	345					chondrocyte development (GO:0002063)|chondroitin sulfate metabolic process (GO:0030204)|embryonic digit morphogenesis (GO:0042733)|endochondral ossification (GO:0001958)|inositol biosynthetic process (GO:0006021)|phosphatidylinositol phosphorylation (GO:0046854)|post-embryonic development (GO:0009791)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'(2'),5'-bisphosphate nucleotidase activity (GO:0008441)|3'-nucleotidase activity (GO:0008254)|inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				TTCTGACCAGGGCCTGGTGGT	0.473																																							uc003xte.3		NA																	0				ovary(1)	1						c.(1033-1035)GCC>GCG		inositol monophosphatase domain containing 1							117.0	111.0	113.0					8																	57876397		2203	4300	6503	SO:0001819	synonymous_variant	54928					Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding	g.chr8:57876397G>C		CCDS6169.1	8q12.1	2013-05-16			ENSG00000104331	ENSG00000104331			26019	protein-coding gene	gene with protein product		614010				21549340	Standard	NM_017813		Approved	FLJ20421, IMPA3, gPAPP	uc003xte.4	Q9NX62	OTTHUMG00000164415	ENST00000262644.4:c.1035C>G	8.37:g.57876397G>C							p.A345A	NM_017813	NP_060283	Q9NX62	IMPA3_HUMAN			5	1318	-		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)	345					Q6NVY7	Silent	SNP	ENST00000262644.4	37	c.1035C>G	CCDS6169.1																																																																																				0.473	IMPAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378665.1	NM_017813		44	108	0	0	0	0.00361	0	44	108				
IMPAD1	54928	broad.mit.edu	37	8	57878817	57878817	+	Silent	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:57878817C>G	ENST00000262644.4	-	4	999	c.741G>C	c.(739-741)ggG>ggC	p.G247G		NM_017813.4	NP_060283.3	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	247					chondrocyte development (GO:0002063)|chondroitin sulfate metabolic process (GO:0030204)|embryonic digit morphogenesis (GO:0042733)|endochondral ossification (GO:0001958)|inositol biosynthetic process (GO:0006021)|phosphatidylinositol phosphorylation (GO:0046854)|post-embryonic development (GO:0009791)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'(2'),5'-bisphosphate nucleotidase activity (GO:0008441)|3'-nucleotidase activity (GO:0008254)|inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				GTTTGACCATCCCTGAATGGG	0.493																																							uc003xte.3		NA																	0				ovary(1)	1						c.(739-741)GGG>GGC		inositol monophosphatase domain containing 1							172.0	132.0	145.0					8																	57878817		2203	4300	6503	SO:0001819	synonymous_variant	54928					Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding	g.chr8:57878817C>G		CCDS6169.1	8q12.1	2013-05-16			ENSG00000104331	ENSG00000104331			26019	protein-coding gene	gene with protein product		614010				21549340	Standard	NM_017813		Approved	FLJ20421, IMPA3, gPAPP	uc003xte.4	Q9NX62	OTTHUMG00000164415	ENST00000262644.4:c.741G>C	8.37:g.57878817C>G							p.G247G	NM_017813	NP_060283	Q9NX62	IMPA3_HUMAN			4	1024	-		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)	247					Q6NVY7	Silent	SNP	ENST00000262644.4	37	c.741G>C	CCDS6169.1																																																																																				0.493	IMPAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378665.1	NM_017813		20	70	0	0	0	0.001882	0	20	70				
PREX2	80243	broad.mit.edu	37	8	69011923	69011923	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:69011923G>T	ENST00000288368.4	+	23	2837	c.2560G>T	c.(2560-2562)Gaa>Taa	p.E854*	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	854					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GCAGATTCTTGAAGCCCTGGC	0.388																																							uc003xxv.1		NA																	0				skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						c.(2560-2562)GAA>TAA		DEP domain containing 2 isoform a							146.0	124.0	131.0					8																	69011923		2203	4300	6503	SO:0001587	stop_gained	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:69011923G>T	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.2560G>T	8.37:g.69011923G>T	ENSP00000288368:p.Glu854*					PREX2_uc003xxu.1_Nonsense_Mutation_p.E854*|PREX2_uc011lez.1_Nonsense_Mutation_p.E789*	p.E854*	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN			23	2587	+			854					B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Nonsense_Mutation	SNP	ENST00000288368.4	37	c.2560G>T	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	G	43	10.156025	0.99349	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	.	.	.	5.66	5.66	0.87406	.	0.057363	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	19.7461	0.96252	0.0:0.0:1.0:0.0	.	.	.	.	X	854	.	ENSP00000288368:E854X	E	+	1	0	PREX2	69174477	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	9.198000	0.94994	2.645000	0.89757	0.650000	0.86243	GAA		0.388	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		26	71	1	0	3.73988e-18	0.00632	6.09113e-18	26	71				
XKR9	389668	broad.mit.edu	37	8	71593456	71593456	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:71593456G>T	ENST00000408926.3	+	3	697	c.163G>T	c.(163-165)Gct>Tct	p.A55S	XKR9_ENST00000520030.1_Missense_Mutation_p.A55S|XKR9_ENST00000520273.1_Intron	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	55						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			AACACTTGTGGCTCAGTGTTT	0.373																																							uc003xyq.2		NA																	0				ovary(1)|skin(1)	2						c.(163-165)GCT>TCT		XK, Kell blood group complex subunit-related							259.0	257.0	258.0					8																	71593456		2203	4300	6503	SO:0001583	missense	389668					integral to membrane		g.chr8:71593456G>T	AY534247	CCDS34905.1	8q13.3	2006-01-12	2006-01-12			ENSG00000221947			20937	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 9"""				Standard	NM_001287258		Approved		uc003xyq.3	Q5GH70		ENST00000408926.3:c.163G>T	8.37:g.71593456G>T	ENSP00000386141:p.Ala55Ser					XKR9_uc010lze.2_Missense_Mutation_p.A55S|XKR9_uc010lzd.2_5'UTR	p.A55S	NM_001011720	NP_001011720	Q5GH70	XKR9_HUMAN	Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)		3	697	+	Breast(64;0.0716)		55			Helical; (Potential).		B2RNS9|B9EH74	Missense_Mutation	SNP	ENST00000408926.3	37	c.163G>T	CCDS34905.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.502298	0.44455	.	.	ENSG00000221947	ENST00000408926;ENST00000520030;ENST00000519350	T;T;T	0.62639	0.01;0.01;0.01	5.61	4.73	0.59995	.	0.352841	0.30134	N	0.010330	T	0.39809	0.1092	N	0.08118	0	0.09310	N	1	B	0.14805	0.011	B	0.16722	0.016	T	0.26018	-1.0115	10	0.41790	T	0.15	-1.7166	8.5604	0.33507	0.1748:0.0:0.8252:0.0	.	55	Q5GH70	XKR9_HUMAN	S	55	ENSP00000386141:A55S;ENSP00000431088:A55S;ENSP00000428904:A55S	ENSP00000386141:A55S	A	+	1	0	XKR9	71756010	0.628000	0.27138	0.681000	0.30009	0.962000	0.63368	2.484000	0.45242	1.362000	0.46000	0.585000	0.79938	GCT		0.373	XKR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378752.1	NM_001011720		37	236	1	0	2.24893e-16	0.009718	3.58047e-16	37	236				
TRPA1	8989	broad.mit.edu	37	8	72983985	72983985	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:72983985C>A	ENST00000262209.4	-	2	436	c.229G>T	c.(229-231)Gag>Tag	p.E77*		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	77					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TCCATTAGCTCAATTTGGCCT	0.343																																							uc003xza.2		NA																	0				ovary(4)|lung(1)|kidney(1)	6						c.(229-231)GAG>TAG		ankyrin-like protein 1	Menthol(DB00825)						143.0	130.0	135.0					8																	72983985		2203	4300	6503	SO:0001587	stop_gained	8989					integral to plasma membrane		g.chr8:72983985C>A	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.229G>T	8.37:g.72983985C>A	ENSP00000262209:p.Glu77*						p.E77*	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		2	404	-			77			Cytoplasmic (Potential).|ANK 1.		A6NIN6	Nonsense_Mutation	SNP	ENST00000262209.4	37	c.229G>T	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.660816	0.88154	.	.	ENSG00000104321	ENST00000262209	.	.	.	4.89	3.98	0.46160	.	0.533090	0.20989	N	0.082066	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-4.1656	14.4412	0.67318	0.0:0.8154:0.1846:0.0	.	.	.	.	X	77	.	ENSP00000262209:E77X	E	-	1	0	TRPA1	73146539	0.945000	0.32115	0.363000	0.25875	0.156000	0.22039	2.847000	0.48270	0.943000	0.37553	0.563000	0.77884	GAG		0.343	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		31	31	1	0	3.33393e-15	0.004878	5.16951e-15	31	31				
CRISPLD1	83690	broad.mit.edu	37	8	75898471	75898471	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:75898471G>A	ENST00000262207.4	+	2	717	c.249G>A	c.(247-249)atG>atA	p.M83I	CRISPLD1_ENST00000519798.1_Intron	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	83	SCP.				face morphogenesis (GO:0060325)	extracellular vesicular exosome (GO:0070062)		p.M83I(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			CCTCTAATATGGAGTATATGG	0.358																																							uc003yan.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(247-249)ATG>ATA		cysteine-rich secretory protein LCCL domain							94.0	98.0	97.0					8																	75898471		2203	4300	6503	SO:0001583	missense	83690					extracellular region		g.chr8:75898471G>A	AL834301	CCDS6219.1, CCDS69497.1, CCDS75754.1	8q21.13	2005-09-23	2005-02-16	2005-02-16	ENSG00000121005	ENSG00000121005			18206	protein-coding gene	gene with protein product			"""LCCL domain containing cysteine-rich secretory protein 1"""	LCRISP1			Standard	NM_031461		Approved	Cocoacrisp, DKFZp762F133	uc003yan.3	Q9H336	OTTHUMG00000164529	ENST00000262207.4:c.249G>A	8.37:g.75898471G>A	ENSP00000262207:p.Met83Ile						p.M83I	NM_031461	NP_113649	Q9H336	CRLD1_HUMAN	Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)		2	624	+	Breast(64;0.0799)		83					B2RA60|B7Z929	Missense_Mutation	SNP	ENST00000262207.4	37	c.249G>A	CCDS6219.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.716467	0.89205	.	.	ENSG00000121005	ENST00000262207;ENST00000520277	T;T	0.20200	2.09;2.09	5.37	5.37	0.77165	CAP domain (3);	0.000000	0.85682	D	0.000000	T	0.53449	0.1797	M	0.85859	2.78	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	T	0.58463	-0.7632	10	0.72032	D	0.01	.	19.3071	0.94167	0.0:0.0:1.0:0.0	.	83	Q9H336	CRLD1_HUMAN	I	83	ENSP00000262207:M83I;ENSP00000430504:M83I	ENSP00000262207:M83I	M	+	3	0	CRISPLD1	76061026	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.263000	0.95617	2.793000	0.96121	0.563000	0.77884	ATG		0.358	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379117.1	NM_031461		20	130	0	0	0	0.003954	0	20	130				
ZFHX4	79776	broad.mit.edu	37	8	77766314	77766314	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:77766314G>C	ENST00000521891.2	+	10	7605	c.7157G>C	c.(7156-7158)gGg>gCg	p.G2386A	ZFHX4_ENST00000455469.2_Missense_Mutation_p.G2341A|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G2341A|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G2360A	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2341	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCTGGCTCTGGGACCAGCACC	0.522										HNSCC(33;0.089)																													uc003yav.2		NA																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(7021-7023)GGG>GCG		zinc finger homeodomain 4							66.0	69.0	68.0					8																	77766314		1968	4145	6113	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77766314G>C		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7157G>C	8.37:g.77766314G>C	ENSP00000430497:p.Gly2386Ala	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.G2386A|ZFHX4_uc003yaw.1_Missense_Mutation_p.G2341A	p.G2341A	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	7409	+			2341					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.7022G>C	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	18.95	3.732287	0.69189	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.42513	0.97;1.02;0.98;0.98	4.8	4.8	0.61643	.	0.000000	0.45361	U	0.000378	T	0.58666	0.2138	M	0.62723	1.935	0.58432	D	0.999995	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.91635	0.996;0.999;0.998	T	0.53351	-0.8451	10	0.07325	T	0.83	.	18.0551	0.89362	0.0:0.0:1.0:0.0	.	2341;2341;2386	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	A	2386;2370;2341;2341;2360	ENSP00000430497:G2386A;ENSP00000399605:G2341A;ENSP00000050961:G2341A;ENSP00000430848:G2360A	ENSP00000050961:G2341A	G	+	2	0	ZFHX4	77928869	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.007000	0.76335	2.493000	0.84123	0.650000	0.86243	GGG		0.522	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		16	34	0	0	0	0.003163	0	16	34				
ATP6V0D2	245972	broad.mit.edu	37	8	87163695	87163695	+	Splice_Site	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:87163695G>A	ENST00000285393.3	+	7	959	c.817G>A	c.(817-819)Gta>Ata	p.V273I	CTD-3118D11.2_ENST00000524253.1_RNA|CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	273					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrogen ion transmembrane transporter activity (GO:0015078)			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						TGTTTTTAAGGTATACAAACC	0.294																																							uc003ydp.1		NA																	0					0						c.(817-819)GTA>ATA		ATPase, H+ transporting, lysosomal 38kDa, V0							78.0	76.0	77.0					8																	87163695		2203	4300	6503	SO:0001630	splice_region_variant	245972				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding	g.chr8:87163695G>A	AY079172	CCDS6241.1	8q21.3	2014-01-28	2006-01-20	2002-05-24	ENSG00000147614	ENSG00000147614		"""ATPases / V-type"""	18266	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 38kD, V0 subunit d isoform 2"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 2"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D2"""			12384298	Standard	NM_152565		Approved	FLJ38708, VMA6, ATP6D2	uc003ydp.1	Q8N8Y2	OTTHUMG00000163637	ENST00000285393.3:c.817-1G>A	8.37:g.87163695G>A							p.V273I	NM_152565	NP_689778	Q8N8Y2	VA0D2_HUMAN			7	886	+			273						Missense_Mutation	SNP	ENST00000285393.3	37	c.817G>A	CCDS6241.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.347938	0.41599	.	.	ENSG00000147614	ENST00000285393	T	0.29397	1.57	5.74	4.87	0.63330	.	0.266871	0.35013	N	0.003508	T	0.23727	0.0574	L	0.32530	0.975	0.51482	D	0.999928	B	0.06786	0.001	B	0.08055	0.003	T	0.04053	-1.0981	9	.	.	.	-21.6476	13.8283	0.63363	0.0731:0.0:0.9269:0.0	.	273	Q8N8Y2	VA0D2_HUMAN	I	273	ENSP00000285393:V273I	.	V	+	1	0	ATP6V0D2	87232811	1.000000	0.71417	0.980000	0.43619	0.240000	0.25518	8.648000	0.91062	1.448000	0.47680	-0.229000	0.12294	GTA		0.294	ATP6V0D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374651.1	NM_152565	Missense_Mutation	25	33	0	0	0	0.005443	0	25	33				
CNGB3	54714	broad.mit.edu	37	8	87666257	87666257	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:87666257T>G	ENST00000320005.5	-	7	933	c.886A>C	c.(886-888)Act>Cct	p.T296P		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	296					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TTTGTAGAAGTCCTGTAGTGT	0.289																																							uc003ydx.2		NA																	0				ovary(2)|pancreas(1)	3						c.(886-888)ACT>CCT		cyclic nucleotide gated channel beta 3							145.0	144.0	144.0					8																	87666257		2202	4299	6501	SO:0001583	missense	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87666257T>G	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.886A>C	8.37:g.87666257T>G	ENSP00000316605:p.Thr296Pro					CNGB3_uc010maj.2_Missense_Mutation_p.T158P	p.T296P	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN			7	932	-			296			Cytoplasmic (Potential).		C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	c.886A>C	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	T	13.45	2.241246	0.39598	.	.	ENSG00000170289	ENST00000320005	T	0.47528	0.84	5.38	5.38	0.77491	.	0.586815	0.18373	N	0.143197	T	0.44953	0.1318	L	0.50333	1.59	0.24392	N	0.994744	B;B	0.14438	0.008;0.01	B;B	0.30495	0.071;0.116	T	0.42999	-0.9418	10	0.52906	T	0.07	.	8.9818	0.35970	0.0:0.0843:0.0:0.9157	.	296;296	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	P	296	ENSP00000316605:T296P	ENSP00000316605:T296P	T	-	1	0	CNGB3	87735373	0.843000	0.29541	1.000000	0.80357	0.946000	0.59487	2.802000	0.47916	2.035000	0.60131	0.454000	0.30748	ACT		0.289	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		36	40	0	0	0	0.009718	0	36	40				
CNGB3	54714	broad.mit.edu	37	8	87679267	87679267	+	Silent	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:87679267G>C	ENST00000320005.5	-	6	785	c.738C>G	c.(736-738)acC>acG	p.T246T		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	246					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TGTTGTCTGCGGTTTGATATG	0.438																																							uc003ydx.2		NA																	0				ovary(2)|pancreas(1)	3						c.(736-738)ACC>ACG		cyclic nucleotide gated channel beta 3							122.0	111.0	115.0					8																	87679267		2203	4300	6503	SO:0001819	synonymous_variant	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87679267G>C	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.738C>G	8.37:g.87679267G>C						CNGB3_uc010maj.2_Silent_p.T108T	p.T246T	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN			6	784	-			246			Extracellular (Potential).		C9JA51|Q9NRE9	Silent	SNP	ENST00000320005.5	37	c.738C>G	CCDS6244.1																																																																																				0.438	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		40	55	0	0	0	0.00361	0	40	55				
MMP16	4325	broad.mit.edu	37	8	89128842	89128843	+	Missense_Mutation	DNP	GG	GG	CT			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:89128842_89128843GG>CT	ENST00000286614.6	-	6	1257_1258	c.976_977CC>AG	c.(976-978)CCt>AGt	p.P326S	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	326					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	TGGAGGCCGAGGAGGTTTTGGC	0.53																																							uc003yeb.3		NA																	0				upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						c.(976-978)CCT>AGT		matrix metalloproteinase 16 isoform 1																																				SO:0001583	missense	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89128842_89128843GG>CT	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.976_977delinsCT	8.37:g.89128842_89128843delinsCT	ENSP00000286614:p.Pro326Ser					MMP16_uc003yec.2_Missense_Mutation_p.P326S	p.P326S	NM_005941	NP_005932	P51512	MMP16_HUMAN			6	1258_1259	-			326			Extracellular (Potential).		B2RAN7|Q14824|Q52H48	Missense_Mutation	DNP	ENST00000286614.6	37	c.976_977CC>AG	CCDS6246.1																																																																																				0.530	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		83	83	0	0	0	0.004672	0	83	83				
DPY19L4	286148	broad.mit.edu	37	8	95750606	95750606	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:95750606C>T	ENST00000414645.2	+	4	361	c.262C>T	c.(262-264)Cgg>Tgg	p.R88W		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	88						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					GGAGCTTGAACGGGAAATCAC	0.343																																							uc003ygx.2		NA																	0				ovary(2)	2						c.(262-264)CGG>TGG		dpy-19-like 4							35.0	37.0	36.0					8																	95750606		2200	4298	6498	SO:0001583	missense	286148					integral to membrane		g.chr8:95750606C>T		CCDS34924.1	8q22.1	2006-11-24			ENSG00000156162	ENSG00000156162			27829	protein-coding gene	gene with protein product		613895					Standard	NM_181787		Approved		uc003ygx.2	Q7Z388	OTTHUMG00000164589	ENST00000414645.2:c.262C>T	8.37:g.95750606C>T	ENSP00000389630:p.Arg88Trp					DPY19L4_uc003ygy.2_Missense_Mutation_p.R25W	p.R88W	NM_181787	NP_861452	Q7Z388	D19L4_HUMAN			4	386	+	Breast(36;3.85e-06)		88					Q6ZW32|Q6ZW42|Q7Z329	Missense_Mutation	SNP	ENST00000414645.2	37	c.262C>T	CCDS34924.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.6|22.6	4.308932|4.308932	0.81247|0.81247	.|.	.|.	ENSG00000156162|ENSG00000156162	ENST00000414645;ENST00000519176|ENST00000519353	T;T|.	0.62941|.	-0.01;-0.01|.	5.47|5.47	4.59|4.59	0.56863|0.56863	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73321|0.73321	0.3572|0.3572	M|M	0.71036|0.71036	2.16|2.16	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.74090|0.74090	-0.3777|-0.3777	10|5	0.87932|.	D|.	0|.	-9.9907|-9.9907	16.0404|16.0404	0.80679|0.80679	0.1353:0.8647:0.0:0.0|0.1353:0.8647:0.0:0.0	.|.	88|.	Q7Z388|.	D19L4_HUMAN|.	W|M	88;59|19	ENSP00000389630:R88W;ENSP00000430417:R59W|.	ENSP00000389630:R88W|.	R|T	+|+	1|2	2|0	DPY19L4|DPY19L4	95819782|95819782	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.973000|0.973000	0.67179|0.67179	3.983000|3.983000	0.56916|0.56916	1.426000|1.426000	0.47256|0.47256	0.557000|0.557000	0.71058|0.71058	CGG|ACG		0.343	DPY19L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379339.1	NM_181787		17	64	0	0	0	0.008871	0	17	64				
ERICH5	203111	broad.mit.edu	37	8	99102061	99102061	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:99102061C>A	ENST00000318528.3	+	2	1175	c.816C>A	c.(814-816)gaC>gaA	p.D272E	C8orf47_ENST00000545282.1_Intron	NM_173549.2	NP_775820.2	Q6P6B1	ERIC5_HUMAN		272	Glu-rich.									kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			AAGTATTGGACAGAAGTCAGC	0.443																																							uc003yih.1		NA																	0					0						c.(814-816)GAC>GAA		hypothetical protein LOC203111							85.0	79.0	81.0					8																	99102061		2203	4300	6503	SO:0001583	missense	203111							g.chr8:99102061C>A																												ENST00000318528.3:c.816C>A	8.37:g.99102061C>A	ENSP00000315614:p.Asp272Glu						p.D272E	NM_173549	NP_775820	Q6P6B1	CH047_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.214)		2	964	+	Breast(36;2.31e-06)		272			Glu-rich.		G3V1K4|Q8N1L8	Missense_Mutation	SNP	ENST00000318528.3	37	c.816C>A	CCDS34929.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.922001	0.33908	.	.	ENSG00000177459	ENST00000318528	T	0.25250	1.81	4.93	-5.98	0.02220	.	0.844764	0.10320	N	0.688916	T	0.07234	0.0183	N	0.04820	-0.15	0.09310	N	1	B	0.11235	0.004	B	0.16289	0.015	T	0.35051	-0.9804	10	0.10902	T	0.67	0.001	1.6259	0.02723	0.4485:0.1736:0.2217:0.1562	.	272	Q6P6B1	CH047_HUMAN	E	272	ENSP00000315614:D272E	ENSP00000315614:D272E	D	+	3	2	C8orf47	99171237	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-1.793000	0.01755	-1.012000	0.03387	-0.182000	0.12963	GAC		0.443	C8orf47-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380465.1			8	47	1	0	5.18039e-06	0.00308	6.18734e-06	8	47				
ZFPM2	23414	broad.mit.edu	37	8	106815464	106815464	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:106815464G>A	ENST00000407775.2	+	8	3404	c.3154G>A	c.(3154-3156)Gag>Aag	p.E1052K	ZFPM2_ENST00000378472.4_Missense_Mutation_p.E783K|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.E920K|ZFPM2_ENST00000520492.1_Missense_Mutation_p.E920K|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000524045.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	1052					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GAAACAAGATGAGAGACCTGC	0.488																																							uc003ymd.2		NA																	0				ovary(4)|large_intestine(1)	5						c.(3154-3156)GAG>AAG		zinc finger protein, multitype 2							65.0	66.0	66.0					8																	106815464		1972	4165	6137	SO:0001583	missense	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106815464G>A	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.3154G>A	8.37:g.106815464G>A	ENSP00000384179:p.Glu1052Lys					ZFPM2_uc011lhs.1_Missense_Mutation_p.E783K	p.E1052K	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	3177	+			1052					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.3154G>A	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	G	12.37	1.918471	0.33908	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.20463	2.07;2.55;2.55;3.76	5.96	5.96	0.96718	.	0.151689	0.64402	D	0.000016	T	0.23688	0.0573	N	0.19112	0.55	0.80722	D	1	D	0.58268	0.982	P	0.51266	0.664	T	0.01537	-1.1330	10	0.18710	T	0.47	.	20.4192	0.99033	0.0:0.0:1.0:0.0	.	1052	Q8WW38	FOG2_HUMAN	K	1052;920;920;783	ENSP00000384179:E1052K;ENSP00000430757:E920K;ENSP00000428720:E920K;ENSP00000367733:E783K	ENSP00000367733:E783K	E	+	1	0	ZFPM2	106884640	1.000000	0.71417	0.953000	0.39169	0.350000	0.29205	7.881000	0.87252	2.831000	0.97527	0.650000	0.86243	GAG		0.488	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			3	22	0	0	0	0.009096	0	3	22				
NUDCD1	84955	broad.mit.edu	37	8	110308681	110308681	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:110308681C>T	ENST00000239690.4	-	3	765	c.391G>A	c.(391-393)Gat>Aat	p.D131N	NUDCD1_ENST00000427660.2_Missense_Mutation_p.D102N|RP11-122A21.2_ENST00000504175.2_RNA	NM_032869.3	NP_116258.2			NudC domain containing 1											breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			CCAGTTCCATCTGACAAGGTA	0.443																																							uc003ynb.3		NA																	0				ovary(1)|breast(1)	2						c.(391-393)GAT>AAT		NudC domain containing 1 isoform 1							218.0	200.0	206.0					8																	110308681		2203	4300	6503	SO:0001583	missense	84955							g.chr8:110308681C>T	AF283302	CCDS6312.1, CCDS47910.1	8q23	2005-02-07			ENSG00000120526	ENSG00000120526			24306	protein-coding gene	gene with protein product		606109				11416219	Standard	NM_032869		Approved	CML66, FLJ14991	uc003ynb.4	Q96RS6	OTTHUMG00000164931	ENST00000239690.4:c.391G>A	8.37:g.110308681C>T	ENSP00000239690:p.Asp131Asn					NUDCD1_uc003yna.2_Missense_Mutation_p.D102N|NUDCD1_uc010mcl.2_Missense_Mutation_p.D44N|NUDCD1_uc010mcm.1_Missense_Mutation_p.D44N	p.D131N	NM_032869	NP_116258	Q96RS6	NUDC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)		3	502	-	all_neural(195;0.219)		131						Missense_Mutation	SNP	ENST00000239690.4	37	c.391G>A	CCDS6312.1	.	.	.	.	.	.	.	.	.	.	C	33	5.230145	0.95207	.	.	ENSG00000120526	ENST00000239690;ENST00000427660	T;T	0.39787	1.2;1.06	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.62514	0.2434	L	0.55834	1.745	0.58432	D	0.999999	P;D;D	0.89917	0.899;1.0;1.0	P;D;D	0.78314	0.496;0.98;0.991	T	0.62067	-0.6932	10	0.72032	D	0.01	-12.0796	19.1348	0.93422	0.0:1.0:0.0:0.0	.	44;131;102	Q96RS6-3;Q96RS6;Q96RS6-2	.;NUDC1_HUMAN;.	N	131;102	ENSP00000239690:D131N;ENSP00000410707:D102N	ENSP00000239690:D131N	D	-	1	0	NUDCD1	110377857	1.000000	0.71417	0.999000	0.59377	0.862000	0.49288	6.299000	0.72770	2.779000	0.95612	0.591000	0.81541	GAT		0.443	NUDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380996.1	NM_032869		49	180	0	0	0	0.00361	0	49	180				
CSMD3	114788	broad.mit.edu	37	8	113966912	113966912	+	Splice_Site	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:113966912C>T	ENST00000297405.5	-	8	1665		c.e8+1		CSMD3_ENST00000352409.3_Splice_Site|CSMD3_ENST00000343508.3_Splice_Site|CSMD3_ENST00000455883.2_Splice_Site	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGTACACTCACAGATAGAAAA	0.318										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.e8+1		CUB and Sushi multiple domains 3 isoform 1							73.0	73.0	73.0					8																	113966912		2201	4297	6498	SO:0001630	splice_region_variant	114788					integral to membrane|plasma membrane		g.chr8:113966912C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.1420+1G>A	8.37:g.113966912C>T		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003ynt.2_Splice_Site_p.L434_splice|CSMD3_uc011lhx.1_Splice_Site_p.L370_splice	p.L474_splice	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			8	1579	-								Q96PZ3	Splice_Site	SNP	ENST00000297405.5	37	c.1420_splice	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.567805	0.86439	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9287	0.92554	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSMD3	114036088	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.398000	0.79919	2.451000	0.82905	0.591000	0.81541	.		0.318	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	Intron	20	14	0	0	0	0.00278	0	20	14				
TRPS1	7227	broad.mit.edu	37	8	116631712	116631712	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:116631712C>A	ENST00000220888.5	-	2	733	c.574G>T	c.(574-576)Gat>Tat	p.D192Y	TRPS1_ENST00000520276.1_Missense_Mutation_p.D196Y|TRPS1_ENST00000395715.3_Missense_Mutation_p.D205Y|TRPS1_ENST00000519076.1_Missense_Mutation_p.D146Y|TRPS1_ENST00000519674.1_Missense_Mutation_p.D192Y			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	192					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			ACACCCCCATCTGAAGGCACT	0.478									Langer-Giedion syndrome																														uc003ynz.2		NA																	0				ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7						c.(574-576)GAT>TAT		zinc finger transcription factor TRPS1							121.0	120.0	120.0					8																	116631712		1960	4153	6113	SO:0001583	missense	7227	Langer-Giedion_syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116631712C>A	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.574G>T	8.37:g.116631712C>A	ENSP00000220888:p.Asp192Tyr					TRPS1_uc011lhy.1_Missense_Mutation_p.D196Y|TRPS1_uc003yny.2_Missense_Mutation_p.D205Y|TRPS1_uc010mcy.2_Missense_Mutation_p.D192Y	p.D192Y	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		2	1033	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		192					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.574G>T		.	.	.	.	.	.	.	.	.	.	C	19.56	3.850226	0.71719	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674	D;D;D;D;T	0.99143	-5.48;-5.45;-5.34;-5.45;0.33	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000001	D	0.98504	0.9501	N	0.24115	0.695	0.58432	D	0.999998	D;D;D	0.69078	0.997;0.995;0.997	D;P;D	0.66497	0.944;0.88;0.944	D	0.99937	1.1371	10	0.87932	D	0	.	19.5324	0.95234	0.0:1.0:0.0:0.0	.	196;192;205	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	Y	205;192;146;196;192	ENSP00000379065:D205Y;ENSP00000220888:D192Y;ENSP00000428910:D146Y;ENSP00000428680:D196Y;ENSP00000429174:D192Y	ENSP00000220888:D192Y	D	-	1	0	TRPS1	116700887	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.204000	0.65180	2.619000	0.88677	0.460000	0.39030	GAT		0.478	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		69	64	1	0	2.48295e-43	0.00361	4.56384e-43	69	64				
COL14A1	7373	broad.mit.edu	37	8	121224795	121224795	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:121224795G>A	ENST00000297848.3	+	13	1846	c.1576G>A	c.(1576-1578)Gtt>Att	p.V526I	COL14A1_ENST00000247781.3_Missense_Mutation_p.V431I|COL14A1_ENST00000537875.1_Missense_Mutation_p.V526I|COL14A1_ENST00000309791.4_Missense_Mutation_p.V526I|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CAGTGATCCTGTTACGGGACA	0.453																																							uc003yox.2		NA																	0				ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(1576-1578)GTT>ATT		collagen, type XIV, alpha 1 precursor							114.0	103.0	107.0					8																	121224795		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121224795G>A		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.1576G>A	8.37:g.121224795G>A	ENSP00000297848:p.Val526Ile					COL14A1_uc003yoy.2_Missense_Mutation_p.V204I|COL14A1_uc010mde.1_Missense_Mutation_p.V204I	p.V526I	NM_021110	NP_066933	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		13	1841	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		526			Fibronectin type-III 3.			Missense_Mutation	SNP	ENST00000297848.3	37	c.1576G>A	CCDS34938.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.05|13.05	2.119936|2.119936	0.37436|0.37436	.|.	.|.	ENSG00000187955|ENSG00000187955	ENST00000523142|ENST00000537875;ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	.|T;T;T;T;T	.|0.04654	.|3.58;3.58;3.58;3.58;3.58	6.17|6.17	6.17|6.17	0.99709|0.99709	.|Fibronectin, type III (2);Immunoglobulin-like fold (1);	.|0.295434	.|0.33534	.|N	.|0.004816	T|T	0.06462|0.06462	0.0166|0.0166	L|L	0.43152|0.43152	1.355|1.355	0.25396|0.25396	N|N	0.988489|0.988489	.|B;B	.|0.27498	.|0.18;0.044	.|B;B	.|0.29862	.|0.108;0.024	T|T	0.38436|0.38436	-0.9661|-0.9661	5|10	.|0.19147	.|T	.|0.46	.|.	15.125|15.125	0.72475|0.72475	0.0:0.2445:0.7555:0.0|0.0:0.2445:0.7555:0.0	.|.	.|526;526	.|Q05707-2;Q05707	.|.;COEA1_HUMAN	Y|I	282|526;526;526;431;339	.|ENSP00000443974:V526I;ENSP00000311809:V526I;ENSP00000297848:V526I;ENSP00000247781:V431I;ENSP00000409461:V339I	.|ENSP00000247781:V431I	C|V	+|+	2|1	0|0	COL14A1|COL14A1	121293976|121293976	0.760000|0.760000	0.28428|0.28428	0.929000|0.929000	0.37066|0.37066	0.977000|0.977000	0.68977|0.68977	1.989000|1.989000	0.40707|0.40707	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	TGT|GTT		0.453	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		19	86	0	0	0	0.005443	0	19	86				
TBC1D31	93594	broad.mit.edu	37	8	124162330	124162330	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:124162330A>T	ENST00000287380.1	+	21	3119	c.3029A>T	c.(3028-3030)cAa>cTa	p.Q1010L	TBC1D31_ENST00000309336.3_Missense_Mutation_p.Q945L|TBC1D31_ENST00000522420.1_Missense_Mutation_p.Q905L|TBC1D31_ENST00000378080.2_3'UTR|TBC1D31_ENST00000327098.5_Missense_Mutation_p.Q914L|TBC1D31_ENST00000521676.1_Missense_Mutation_p.Q887L|TBC1D31_ENST00000518805.1_Missense_Mutation_p.Q564L	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	1010						centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)										AGAACCTCACAATTAAATGAC	0.353																																							uc003ypp.1		NA																	0				skin(1)	1						c.(3028-3030)CAA>CTA		WD repeat domain 67 isoform 1							88.0	82.0	84.0					8																	124162330		2203	4300	6503	SO:0001583	missense	93594					centrosome	Rab GTPase activator activity	g.chr8:124162330A>T	AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"""WD repeat domain containing"""	30888	protein-coding gene	gene with protein product			"""WD repeat domain 67"""	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.3029A>T	8.37:g.124162330A>T	ENSP00000287380:p.Gln1010Leu					WDR67_uc011lig.1_Missense_Mutation_p.Q914L|WDR67_uc011lih.1_Missense_Mutation_p.Q900L|WDR67_uc003ypq.1_RNA|WDR67_uc003yps.1_Missense_Mutation_p.Q644L|WDR67_uc003ypt.1_Missense_Mutation_p.Q402L|WDR67_uc003ypu.1_Missense_Mutation_p.Q402L	p.Q1010L	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		21	3119	+	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		1010					B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Missense_Mutation	SNP	ENST00000287380.1	37	c.3029A>T	CCDS6338.1	.	.	.	.	.	.	.	.	.	.	A	2.576	-0.298487	0.05532	.	.	ENSG00000156787	ENST00000287380;ENST00000309336;ENST00000327098;ENST00000522420;ENST00000521676;ENST00000518805	T;T;T;T;T;T	0.75367	-0.2;-0.26;-0.26;-0.66;-0.93;1.01	4.41	-1.44	0.08856	.	1.382010	0.04515	N	0.383613	T	0.54303	0.1850	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.0;0.0	T	0.31558	-0.9939	10	0.34782	T	0.22	1.8723	0.8455	0.01160	0.2962:0.3366:0.2034:0.1638	.	914;945;905;1010	B7ZL19;Q96DN5-2;E7ERK7;Q96DN5	.;.;.;WDR67_HUMAN	L	1010;945;914;905;887;564	ENSP00000287380:Q1010L;ENSP00000308358:Q945L;ENSP00000312701:Q914L;ENSP00000429334:Q905L;ENSP00000430628:Q887L;ENSP00000429494:Q564L	ENSP00000287380:Q1010L	Q	+	2	0	WDR67	124231511	0.000000	0.05858	0.005000	0.12908	0.002000	0.02628	0.311000	0.19380	-0.015000	0.14150	0.459000	0.35465	CAA		0.353	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381721.1	NM_145647		27	31	0	0	0	0.003755	0	27	31				
FAM83A	84985	broad.mit.edu	37	8	124195292	124195292	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:124195292G>T	ENST00000518448.1	+	2	2210	c.196G>T	c.(196-198)Gtg>Ttg	p.V66L	FAM83A_ENST00000536633.1_Missense_Mutation_p.V66L|FAM83A_ENST00000318462.6_Missense_Mutation_p.V66L|RP11-539E17.5_ENST00000522383.1_RNA|FAM83A_ENST00000546351.1_Missense_Mutation_p.V66L|FAM83A_ENST00000276699.6_Missense_Mutation_p.V66L|FAM83A_ENST00000522648.1_Missense_Mutation_p.V66L|U3_ENST00000408534.1_RNA			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	66										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CTTGTCCTCGGTGGAGGCCCA	0.682																																							uc003ypv.2		NA																	0				ovary(3)|skin(1)	4						c.(196-198)GTG>TTG		hypothetical protein LOC84985 isoform a							45.0	39.0	41.0					8																	124195292		2203	4300	6503	SO:0001583	missense	84985							g.chr8:124195292G>T	BC052300	CCDS6339.1, CCDS6340.1, CCDS75784.1	8q24.13	2014-03-13			ENSG00000147689	ENSG00000147689			28210	protein-coding gene	gene with protein product						22886303	Standard	XM_005251087		Approved	MGC14128, BJ-TSA-9	uc003ypx.3	Q86UY5	OTTHUMG00000165083	ENST00000518448.1:c.196G>T	8.37:g.124195292G>T	ENSP00000428876:p.Val66Leu					FAM83A_uc003ypw.2_Missense_Mutation_p.V66L|FAM83A_uc003ypy.2_Missense_Mutation_p.V66L|FAM83A_uc003ypx.2_Missense_Mutation_p.V66L|FAM83A_uc003ypz.2_Missense_Mutation_p.V66L	p.V66L	NM_032899	NP_116288	Q86UY5	FA83A_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		2	2210	+	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		66					Q71HL2|Q8N7I1|Q96I47	Missense_Mutation	SNP	ENST00000518448.1	37	c.196G>T	CCDS6340.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.816573	0.32145	.	.	ENSG00000147689	ENST00000518448;ENST00000546351;ENST00000536633;ENST00000318462;ENST00000522648;ENST00000276699	T;T;T;T;T;T	0.10763	2.84;3.13;2.84;2.84;3.13;2.84	5.36	4.46	0.54185	.	1.007710	0.07956	N	0.981584	T	0.08537	0.0212	N	0.11154	0.105	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.12156	0.004;0.003;0.007	T	0.41574	-0.9501	10	0.27082	T	0.32	-0.9474	15.8336	0.78778	0.0:0.1364:0.8636:0.0	.	66;66;66	Q86UY5-2;Q86UY5-3;Q86UY5	.;.;FA83A_HUMAN	L	66	ENSP00000428876:V66L;ENSP00000440565:V66L;ENSP00000445218:V66L;ENSP00000323034:V66L;ENSP00000427979:V66L;ENSP00000276699:V66L	ENSP00000276699:V66L	V	+	1	0	FAM83A	124264473	0.402000	0.25311	0.016000	0.15963	0.924000	0.55760	3.665000	0.54532	1.202000	0.43218	0.561000	0.74099	GTG		0.682	FAM83A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381737.1	NM_032899		16	18	1	0	0.000566183	0.00499	0.000622257	16	18				
MTSS1	9788	broad.mit.edu	37	8	125603473	125603473	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:125603473C>A	ENST00000518547.1	-	4	685	c.212G>T	c.(211-213)gGg>gTg	p.G71V	MTSS1_ENST00000325064.5_Missense_Mutation_p.G71V|MTSS1_ENST00000354184.4_5'UTR|MTSS1_ENST00000378017.3_Missense_Mutation_p.G71V	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	71	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CTCCCTGGTCCCACCTGAAAA	0.483																																					Esophageal Squamous(160;622 1893 3862 8546 12509)	Esophageal Squamous(160;622 1893 3862 8546 12509)	uc003yrk.2		NA																	0				ovary(1)	1						c.(211-213)GGG>GTG		metastasis suppressor 1							123.0	99.0	108.0					8																	125603473		2203	4300	6503	SO:0001583	missense	9788				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding	g.chr8:125603473C>A	AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.212G>T	8.37:g.125603473C>A	ENSP00000429064:p.Gly71Val					MTSS1_uc003yrj.2_Missense_Mutation_p.G71V|MTSS1_uc003yrl.2_Missense_Mutation_p.G71V	p.G71V	NM_014751	NP_055566	O43312	MTSS1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		4	746	-	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		71			IMD.		J3KNK6|Q8TCA2|Q96RX2	Missense_Mutation	SNP	ENST00000518547.1	37	c.212G>T	CCDS6353.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.64|13.64	2.298454|2.298454	0.40694|0.40694	.|.	.|.	ENSG00000170873|ENSG00000170873	ENST00000378017;ENST00000518547;ENST00000325064|ENST00000522162	T;T;T|.	0.33654|.	1.4;1.43;1.4|.	5.77|5.77	5.77|5.77	0.91146|0.91146	IRSp53/MIM homology domain (IMD) (3);|.	0.050954|0.050954	0.85682|0.85682	D|D	0.000000|0.000000	T|.	0.64505|.	0.2604|.	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	D;P;D|.	0.89917|.	1.0;0.912;1.0|.	D;P;D|.	0.77004|.	0.989;0.793;0.98|.	T|.	0.66069|.	-0.6015|.	10|.	0.49607|0.87932	T|D	0.09|0	-16.6664|-16.6664	14.5479|14.5479	0.68044|0.68044	0.0:0.7368:0.2632:0.0|0.0:0.7368:0.2632:0.0	.|.	71;71;71|.	A5YM41;O43312;O43312-4|.	.;MTSS1_HUMAN;.|.	V|X	71|66	ENSP00000367256:G71V;ENSP00000429064:G71V;ENSP00000322804:G71V|.	ENSP00000322804:G71V|ENSP00000429752:G66X	G|G	-|-	2|1	0|0	MTSS1|MTSS1	125672654|125672654	0.935000|0.935000	0.31712|0.31712	0.934000|0.934000	0.37439|0.37439	0.094000|0.094000	0.18550|0.18550	2.075000|2.075000	0.41538|0.41538	2.745000|2.745000	0.94114|0.94114	0.650000|0.650000	0.86243|0.86243	GGG|GGA		0.483	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109625.3	NM_014751		9	64	1	0	4.68919e-08	0.008291	6.0898e-08	9	64				
GSDMC	56169	broad.mit.edu	37	8	130762748	130762748	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:130762748G>T	ENST00000276708.4	-	11	1893	c.1012C>A	c.(1012-1014)Cag>Aag	p.Q338K		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	338						cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						ATGACATCCTGAACATCCTTT	0.493																																							uc003ysr.2		NA																	0				ovary(2)|skin(1)	3						c.(1012-1014)CAG>AAG		melanoma-derived leucine zipper, extra-nuclear							137.0	121.0	126.0					8																	130762748		2203	4300	6503	SO:0001583	missense	56169					mitochondrion		g.chr8:130762748G>T	AB042405	CCDS6360.1	8q24.21	2014-05-14	2008-07-31	2008-07-31	ENSG00000147697	ENSG00000147697			7151	protein-coding gene	gene with protein product		608384	"""melanoma-derived leucine zipper, extra-nuclear factor"""	MLZE		17350798	Standard	NM_031415		Approved		uc003ysr.3	Q9BYG8	OTTHUMG00000164851	ENST00000276708.4:c.1012C>A	8.37:g.130762748G>T	ENSP00000276708:p.Gln338Lys						p.Q338K	NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN			11	1894	-			338					Q5XKF3|Q6P494	Missense_Mutation	SNP	ENST00000276708.4	37	c.1012C>A	CCDS6360.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.527597	0.44969	.	.	ENSG00000147697	ENST00000276708	T	0.24908	1.83	5.14	2.15	0.27550	.	0.578443	0.16618	N	0.206602	T	0.38746	0.1052	M	0.69823	2.125	0.09310	N	1	D	0.63046	0.992	P	0.61070	0.883	T	0.19484	-1.0304	10	0.17832	T	0.49	.	7.8671	0.29543	0.0:0.1571:0.5188:0.3241	.	338	Q9BYG8	GSDMC_HUMAN	K	338	ENSP00000276708:Q338K	ENSP00000276708:Q338K	Q	-	1	0	GSDMC	130831930	0.002000	0.14202	0.001000	0.08648	0.004000	0.04260	1.002000	0.29796	0.704000	0.31869	0.591000	0.81541	CAG		0.493	GSDMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380586.1			46	40	1	0	2.43468e-25	0.00361	4.23435e-25	46	40				
EFR3A	23167	broad.mit.edu	37	8	133014952	133014952	+	Splice_Site	SNP	A	A	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:133014952A>C	ENST00000254624.5	+	21	2534	c.2309A>C	c.(2308-2310)aAa>aCa	p.K770T	EFR3A_ENST00000334503.4_Splice_Site_p.K770T|EFR3A_ENST00000519656.1_Splice_Site_p.K734T|EFR3A_ENST00000521940.1_3'UTR	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	770						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TGTGAATCCAAAGTAAGTGAA	0.408																																							uc003yte.2		NA																	0				ovary(3)|breast(1)|central_nervous_system(1)	5						c.(2308-2310)AAA>ACA		EFR3 homolog A							86.0	93.0	91.0					8																	133014952		2203	4300	6503	SO:0001630	splice_region_variant	23167					plasma membrane	binding	g.chr8:133014952A>C	D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.2310+1A>C	8.37:g.133014952A>C							p.K770T	NM_015137	NP_055952	Q14156	EFR3A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)		21	2510	+	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		770					A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Missense_Mutation	SNP	ENST00000254624.5	37	c.2309A>C	CCDS34942.2	.	.	.	.	.	.	.	.	.	.	A	17.55	3.416951	0.62511	.	.	ENSG00000132294	ENST00000254624;ENST00000407309;ENST00000377917;ENST00000334503;ENST00000519656	T;T;T	0.39787	1.06;1.06;1.06	5.89	4.74	0.60224	.	0.041732	0.85682	D	0.000000	T	0.47655	0.1457	M	0.66939	2.045	0.80722	D	1	P	0.34462	0.454	B	0.41666	0.363	T	0.49322	-0.8952	10	0.72032	D	0.01	-24.2292	10.9533	0.47343	0.9276:0.0:0.0724:0.0	.	770	Q14156	EFR3A_HUMAN	T	770;149;726;770;734	ENSP00000254624:K770T;ENSP00000334769:K770T;ENSP00000428086:K734T	ENSP00000254624:K770T	K	+	2	0	EFR3A	133084134	1.000000	0.71417	1.000000	0.80357	0.442000	0.32017	5.919000	0.70005	1.065000	0.40693	0.455000	0.32223	AAA		0.408	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	NM_015137	Missense_Mutation	25	22	0	0	0	0.009535	0	25	22				
EFR3A	23167	broad.mit.edu	37	8	133015496	133015496	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:133015496A>T	ENST00000254624.5	+	22	2549	c.2324A>T	c.(2323-2325)cAt>cTt	p.H775L	EFR3A_ENST00000334503.4_Missense_Mutation_p.H775L|EFR3A_ENST00000519656.1_Missense_Mutation_p.H739L|EFR3A_ENST00000521940.1_3'UTR	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	775						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			AATTTGCTTCATGATAGACTT	0.318																																							uc003yte.2		NA																	0				ovary(3)|breast(1)|central_nervous_system(1)	5						c.(2323-2325)CAT>CTT		EFR3 homolog A							88.0	83.0	84.0					8																	133015496		2203	4300	6503	SO:0001583	missense	23167					plasma membrane	binding	g.chr8:133015496A>T	D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.2324A>T	8.37:g.133015496A>T	ENSP00000254624:p.His775Leu						p.H775L	NM_015137	NP_055952	Q14156	EFR3A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)		22	2525	+	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		775					A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Missense_Mutation	SNP	ENST00000254624.5	37	c.2324A>T	CCDS34942.2	.	.	.	.	.	.	.	.	.	.	A	22.9	4.345111	0.82022	.	.	ENSG00000132294	ENST00000254624;ENST00000407309;ENST00000377917;ENST00000334503;ENST00000519656	T;T;T	0.31247	1.5;1.5;1.5	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.37758	0.1015	L	0.54323	1.7	0.80722	D	1	P	0.42375	0.778	P	0.45037	0.467	T	0.25293	-1.0136	10	0.72032	D	0.01	-25.3399	14.9808	0.71309	1.0:0.0:0.0:0.0	.	775	Q14156	EFR3A_HUMAN	L	775;154;731;775;739	ENSP00000254624:H775L;ENSP00000334769:H775L;ENSP00000428086:H739L	ENSP00000254624:H775L	H	+	2	0	EFR3A	133084678	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	8.287000	0.89918	2.192000	0.70111	0.528000	0.53228	CAT		0.318	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	NM_015137		13	66	0	0	0	0.00245	0	13	66				
FAM135B	51059	broad.mit.edu	37	8	139380195	139380195	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:139380195G>T	ENST00000395297.1	-	2	202	c.32C>A	c.(31-33)tCg>tAg	p.S11*		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	11								p.S11L(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TAGCTCTACCGAAAACTCAAC	0.368										HNSCC(54;0.14)																													uc003yuy.2		NA																	2	Substitution - Missense(2)		large_intestine(2)	ovary(7)|skin(2)	9						c.(31-33)TCG>TAG		hypothetical protein LOC51059							153.0	146.0	148.0					8																	139380195		1863	4102	5965	SO:0001587	stop_gained	51059							g.chr8:139380195G>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.32C>A	8.37:g.139380195G>T	ENSP00000378710:p.Ser11*	HNSCC(54;0.14)				FAM135B_uc003yux.2_5'UTR|FAM135B_uc003yuz.2_RNA	p.S11*	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		2	203	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		11					B5MDB3|O95879|Q2WGJ7|Q3KP46	Nonsense_Mutation	SNP	ENST00000395297.1	37	c.32C>A	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	38	7.003222	0.97994	.	.	ENSG00000147724	ENST00000395297;ENST00000160713;ENST00000520380	.	.	.	5.54	5.54	0.83059	.	0.000000	0.53938	U	0.000057	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.1994	18.3941	0.90493	0.0:0.0:1.0:0.0	.	.	.	.	X	11	.	ENSP00000160713:S11X	S	-	2	0	FAM135B	139449377	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.084000	0.94076	2.768000	0.95171	0.561000	0.74099	TCG		0.368	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		48	65	1	0	7.10663e-31	0.00361	1.26406e-30	48	65				
COL22A1	169044	broad.mit.edu	37	8	139620186	139620186	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:139620186C>A	ENST00000303045.6	-	57	4471	c.4025G>T	c.(4024-4026)gGa>gTa	p.G1342V	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.G1322V	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1342	Collagen-like 13.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CACAGGGGTTCCTGAAGGGCC	0.542										HNSCC(7;0.00092)																													uc003yvd.2		NA																	0				ovary(11)|pancreas(1)|skin(1)	13						c.(4024-4026)GGA>GTA		collagen, type XXII, alpha 1							103.0	99.0	101.0					8																	139620186		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139620186C>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.4025G>T	8.37:g.139620186C>A	ENSP00000303153:p.Gly1342Val	HNSCC(7;0.00092)				COL22A1_uc011ljo.1_Missense_Mutation_p.G622V	p.G1342V	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		57	4472	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1342			Pro-rich.|Gly-rich.|Collagen-like 13.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.4025G>T	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.648486	0.47258	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.99637	-6.29;-6.29	5.57	5.57	0.84162	.	0.144833	0.31636	N	0.007316	D	0.99864	0.9936	H	0.99682	4.7	0.80722	D	1	B;D	0.89917	0.417;1.0	B;D	0.97110	0.284;1.0	D	0.96338	0.9249	10	0.87932	D	0	.	18.5507	0.91063	0.0:1.0:0.0:0.0	.	1322;1342	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	V	1342;1322;1035	ENSP00000303153:G1342V;ENSP00000387655:G1322V	ENSP00000303153:G1342V	G	-	2	0	COL22A1	139689368	1.000000	0.71417	0.901000	0.35422	0.137000	0.21094	6.480000	0.73604	2.620000	0.88729	0.563000	0.77884	GGA		0.542	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		21	67	1	0	2.27731e-05	0.001882	2.63735e-05	21	67				
COL22A1	169044	broad.mit.edu	37	8	139767420	139767420	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:139767420G>T	ENST00000303045.6	-	21	2457	c.2011C>A	c.(2011-2013)Ccc>Acc	p.P671T	COL22A1_ENST00000435777.1_Missense_Mutation_p.P671T	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	671	Collagen-like 4.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGAGGACCGGGGGCGCCTTGG	0.557										HNSCC(7;0.00092)																													uc003yvd.2		NA																	0				ovary(11)|pancreas(1)|skin(1)	13						c.(2011-2013)CCC>ACC		collagen, type XXII, alpha 1							72.0	77.0	75.0					8																	139767420		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139767420G>T	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.2011C>A	8.37:g.139767420G>T	ENSP00000303153:p.Pro671Thr	HNSCC(7;0.00092)				COL22A1_uc011ljo.1_5'UTR	p.P671T	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		21	2458	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		671			Pro-rich.|Gly-rich.|Collagen-like 4.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.2011C>A	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	9.554	1.116651	0.20795	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.96651	-4.08;-4.08	4.98	4.11	0.48088	.	0.175159	0.26609	U	0.023437	D	0.93468	0.7916	L	0.45744	1.44	0.29928	N	0.822189	P	0.43024	0.798	B	0.42062	0.374	D	0.90337	0.4356	10	0.40728	T	0.16	.	9.3545	0.38157	0.0967:0.0:0.9033:0.0	.	671	Q8NFW1	COMA1_HUMAN	T	671;671;384	ENSP00000303153:P671T;ENSP00000387655:P671T	ENSP00000303153:P671T	P	-	1	0	COL22A1	139836602	1.000000	0.71417	0.961000	0.40146	0.074000	0.17049	4.226000	0.58606	1.333000	0.45449	0.591000	0.81541	CCC		0.557	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		23	68	1	0	1.5548e-18	0.005443	2.53786e-18	23	68				
CYP11B1	1584	broad.mit.edu	37	8	143955804	143955804	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:143955804G>A	ENST00000292427.4	-	9	1529	c.1497C>T	c.(1495-1497)ttC>ttT	p.F499F	CYP11B1_ENST00000377675.3_Silent_p.F570F|CYP11B1_ENST00000517471.1_Silent_p.F433F	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	499					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)	TGATGGCTCTGAAGGTGAGGA	0.567									Familial Hyperaldosteronism type I																														uc003yxi.2		NA																	0				ovary(3)	3						c.(1495-1497)TTC>TTT		cytochrome P450, family 11, subfamily B,	Mitotane(DB00648)						202.0	164.0	177.0					8																	143955804		2203	4300	6503	SO:0001819	synonymous_variant	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.chr8:143955804G>A	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.1497C>T	8.37:g.143955804G>A						CYP11B1_uc010mex.2_Silent_p.F198F|CYP11B1_uc003yxh.2_Silent_p.F149F|CYP11B1_uc003yxj.2_Silent_p.F433F|CYP11B1_uc010mey.2_Silent_p.F570F	p.F499F	NM_000497	NP_000488	P15538	C11B1_HUMAN			9	1504	-	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)		499					Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Silent	SNP	ENST00000292427.4	37	c.1497C>T	CCDS6392.1																																																																																				0.567	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			33	49	0	0	0	0.002852	0	33	49				
RHPN1	114822	broad.mit.edu	37	8	144464036	144464036	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:144464036G>T	ENST00000289013.6	+	14	1796	c.1695G>T	c.(1693-1695)tgG>tgT	p.W565C		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	590	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				signal transduction (GO:0007165)		small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			CATGCAGGTGGTGGAGACACG	0.662																																							uc003yyb.2		NA																	0				large_intestine(1)	1						c.(1693-1695)TGG>TGT		rhophilin 1							38.0	54.0	48.0					8																	144464036		2133	4245	6378	SO:0001583	missense	114822				signal transduction	intracellular		g.chr8:144464036G>T	AB067516	CCDS47927.1	8q24.3	2003-02-06			ENSG00000158106	ENSG00000158106			19973	protein-coding gene	gene with protein product		601031				11572484	Standard	NM_052924		Approved	KIAA1929, RHPN, ODF5	uc003yyb.3	Q8TCX5	OTTHUMG00000165006	ENST00000289013.6:c.1695G>T	8.37:g.144464036G>T	ENSP00000289013:p.Trp565Cys						p.W565C	NM_052924	NP_443156	Q8TCX5	RHPN1_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)		14	1828	+	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		590			PDZ.		Q8TAV1|Q96PV9	Missense_Mutation	SNP	ENST00000289013.6	37	c.1695G>T	CCDS47927.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.998797	0.54147	.	.	ENSG00000158106	ENST00000289013	T	0.26810	1.71	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.42832	0.1220	L	0.35854	1.095	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.40270	-0.9572	10	0.87932	D	0	-24.3847	16.9816	0.86329	0.0:0.0:1.0:0.0	.	565	Q8TCX5-2	.	C	565	ENSP00000289013:W565C	ENSP00000289013:W565C	W	+	3	0	RHPN1	144535179	1.000000	0.71417	1.000000	0.80357	0.028000	0.11728	7.336000	0.79245	2.232000	0.73038	0.462000	0.41574	TGG		0.662	RHPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381417.1			24	29	1	0	3.90053e-15	0.002445	6.03547e-15	24	29				
FAM83H	286077	broad.mit.edu	37	8	144811213	144811213	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:144811213C>A	ENST00000388913.3	-	4	786	c.661G>T	c.(661-663)Ggg>Tgg	p.G221W		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	221					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AAGGACTTCCCAGTGCGGCAG	0.652																																							uc003yzk.2		NA																	0				lung(1)|central_nervous_system(1)|pancreas(1)	3						c.(661-663)GGG>TGG		FAM83H							66.0	76.0	73.0					8																	144811213		2080	4196	6276	SO:0001583	missense	286077				biomineral tissue development			g.chr8:144811213C>A	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.661G>T	8.37:g.144811213C>A	ENSP00000373565:p.Gly221Trp					FAM83H_uc010mfk.1_5'Flank	p.G221W	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		4	730	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		221					A0JLS2|Q8N4W0	Missense_Mutation	SNP	ENST00000388913.3	37	c.661G>T	CCDS6410.2	.	.	.	.	.	.	.	.	.	.	c	26.5	4.740878	0.89573	.	.	ENSG00000180921	ENST00000388913	T	0.18338	2.22	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.50188	0.1601	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60281	-0.7294	10	0.87932	D	0	.	17.6525	0.88169	0.0:1.0:0.0:0.0	.	221	Q6ZRV2	FA83H_HUMAN	W	221	ENSP00000373565:G221W	ENSP00000373565:G221W	G	-	1	0	FAM83H	144883201	1.000000	0.71417	0.948000	0.38648	0.957000	0.61999	7.616000	0.83018	2.477000	0.83638	0.561000	0.74099	GGG		0.652	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488		79	104	1	0	1.59803e-59	0.00361	2.98901e-59	79	104				
EPPK1	83481	broad.mit.edu	37	8	144941191	144941191	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:144941191G>C	ENST00000525985.1	-	2	6302	c.6231C>G	c.(6229-6231)gaC>gaG	p.D2077E				P58107	EPIPL_HUMAN	epiplakin 1	2077						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCAGCCCGTGTCCTCTTGTG	0.587																																							uc003zaa.1		NA																	0				pancreas(1)|skin(1)	2						c.(6229-6231)GAC>GAG		epiplakin 1							62.0	69.0	67.0					8																	144941191		2152	4261	6413	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144941191G>C	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6231C>G	8.37:g.144941191G>C	ENSP00000436337:p.Asp2077Glu						p.D2077E	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		1	6244	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2077			Plectin 35.		Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.6231C>G		.	.	.	.	.	.	.	.	.	.	G	7.783	0.709868	0.15239	.	.	ENSG00000227184	ENST00000525985	T	0.66099	-0.19	4.44	-1.32	0.09201	.	.	.	.	.	T	0.25195	0.0612	N	0.02011	-0.69	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.30238	-0.9985	9	0.02654	T	1	.	5.7666	0.18229	0.0:0.33:0.3826:0.2874	.	2077	E9PPU0	.	E	2077	ENSP00000436337:D2077E	ENSP00000436337:D2077E	D	-	3	2	EPPK1	145013179	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.259000	0.00264	-0.173000	0.10761	-0.283000	0.09986	GAC		0.587	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		6	59	0	0	0	0.001984	0	6	59				
PLEC	5339	broad.mit.edu	37	8	144991003	144991003	+	Missense_Mutation	SNP	C	C	A	rs372622946		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:144991003C>A	ENST00000322810.4	-	32	13566	c.13397G>T	c.(13396-13398)cGc>cTc	p.R4466L	PLEC_ENST00000354589.3_Missense_Mutation_p.R4329L|PLEC_ENST00000345136.3_Missense_Mutation_p.R4329L|PLEC_ENST00000357649.2_Missense_Mutation_p.R4333L|PLEC_ENST00000398774.2_Missense_Mutation_p.R4297L|PLEC_ENST00000436759.2_Missense_Mutation_p.R4356L|PLEC_ENST00000527096.1_Missense_Mutation_p.R4352L|PLEC_ENST00000356346.3_Missense_Mutation_p.R4315L|PLEC_ENST00000354958.2_Missense_Mutation_p.R4307L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4466	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GACAGGGAAGCGCTCACCGGT	0.657																																							uc003zaf.1		NA																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(13396-13398)CGC>CTC		plectin isoform 1							52.0	58.0	56.0					8																	144991003		2126	4227	6353	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144991003C>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.13397G>T	8.37:g.144991003C>A	ENSP00000323856:p.Arg4466Leu					PLEC_uc003zab.1_Missense_Mutation_p.R4329L|PLEC_uc003zac.1_Missense_Mutation_p.R4333L|PLEC_uc003zad.2_Missense_Mutation_p.R4329L|PLEC_uc003zae.1_Missense_Mutation_p.R4297L|PLEC_uc003zag.1_Missense_Mutation_p.R4307L|PLEC_uc003zah.2_Missense_Mutation_p.R4315L|PLEC_uc003zaj.2_Missense_Mutation_p.R4356L	p.R4466L	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	13567	-			4466			Globular 2.|Plectin 30.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.13397G>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	5.666	0.307403	0.10733	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17;-1.17;-1.17;-1.17;-1.17;-1.17	5.19	4.24	0.50183	.	0.226589	0.29438	U	0.012152	T	0.79913	0.4528	M	0.77313	2.365	0.45318	D	0.998318	P;P;P;P;P;P;P;P	0.49307	0.815;0.841;0.841;0.922;0.841;0.841;0.904;0.904	B;P;P;P;P;P;P;P	0.50970	0.363;0.524;0.524;0.655;0.524;0.524;0.524;0.524	T	0.81232	-0.1026	10	0.72032	D	0.01	.	4.528	0.11990	0.0:0.7216:0.0:0.2784	.	4356;4315;4307;4466;4297;4329;4333;4329	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	L	4329;4333;4329;4297;4466;4307;4315;4356;4352	ENSP00000344848:R4329L;ENSP00000350277:R4333L;ENSP00000346602:R4329L;ENSP00000381756:R4297L;ENSP00000323856:R4466L;ENSP00000347044:R4307L;ENSP00000348702:R4315L;ENSP00000388180:R4356L;ENSP00000434583:R4352L	ENSP00000323856:R4466L	R	-	2	0	PLEC	145062991	1.000000	0.71417	1.000000	0.80357	0.176000	0.22953	2.649000	0.46656	2.693000	0.91896	0.643000	0.83706	CGC		0.657	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		34	43	1	0	1.47197e-15	0.007835	2.30645e-15	34	43				
FBXL6	26233	broad.mit.edu	37	8	145579728	145579728	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:145579728C>G	ENST00000331890.5	-	8	1436	c.1372G>C	c.(1372-1374)Gag>Cag	p.E458Q	SLC52A2_ENST00000540505.1_5'Flank|TMEM249_ENST00000531225.1_5'Flank|SLC52A2_ENST00000530047.1_5'Flank|SLC52A2_ENST00000329994.2_5'Flank|SLC52A2_ENST00000532887.1_5'Flank|SLC52A2_ENST00000402965.1_5'Flank|SLC52A2_ENST00000527078.1_5'Flank|TMEM249_ENST00000398633.3_5'Flank|FBXL6_ENST00000526524.1_Intron|FBXL6_ENST00000455319.2_Missense_Mutation_p.E452Q	NM_012162.2	NP_036294.2	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6	458					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)			AGGGCCTGCTCCAGGTCCTTC	0.607																																							uc003zcb.2		NA																	0				ovary(1)|lung(1)	2						c.(1372-1374)GAG>CAG		F-box and leucine-rich repeat protein 6 isoform							78.0	83.0	81.0					8																	145579728		2203	4300	6503	SO:0001583	missense	26233				proteolysis		ubiquitin-protein ligase activity	g.chr8:145579728C>G	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.1372G>C	8.37:g.145579728C>G	ENSP00000330098:p.Glu458Gln					C8ORFK29_uc011llb.1_5'Flank|C8ORFK29_uc010mfw.2_5'Flank|C8ORFK29_uc003zby.3_5'Flank|FBXL6_uc003zbz.2_Missense_Mutation_p.E185Q|FBXL6_uc003zca.2_Missense_Mutation_p.E452Q|FBXL6_uc010mfx.2_Missense_Mutation_p.E219Q|GPR172A_uc003zcc.1_5'Flank|GPR172A_uc003zcd.1_5'Flank|GPR172A_uc003zce.1_5'Flank|GPR172A_uc010mfy.1_5'Flank|GPR172A_uc003zcf.1_5'Flank|GPR172A_uc011llc.1_5'Flank	p.E458Q	NM_012162	NP_036294	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	1397	-	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)		458			LRR 10.		Q53G43|Q9H5W9|Q9UKC7	Missense_Mutation	SNP	ENST00000331890.5	37	c.1372G>C	CCDS6422.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.693418	0.68386	.	.	ENSG00000182325	ENST00000455319;ENST00000331890	T;T	0.25414	5.5;1.8	4.85	3.75	0.43078	.	0.145169	0.44097	D	0.000499	T	0.33818	0.0876	L	0.45581	1.43	0.33670	D	0.610776	D;D	0.63046	0.986;0.992	P;P	0.59357	0.722;0.856	T	0.36744	-0.9735	10	0.29301	T	0.29	-34.3642	8.9535	0.35803	0.0:0.8786:0.0:0.1214	.	458;452	Q8N531;Q8N531-2	FBXL6_HUMAN;.	Q	452;458	ENSP00000403873:E452Q;ENSP00000330098:E458Q	ENSP00000330098:E458Q	E	-	1	0	FBXL6	145550536	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.059000	0.57470	2.218000	0.71995	0.563000	0.77884	GAG		0.607	FBXL6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382413.1	NM_024555		21	88	0	0	0	0.004656	0	21	88				
DMRT3	58524	broad.mit.edu	37	9	990869	990869	+	Missense_Mutation	SNP	G	G	T	rs534413749		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr9:990869G>T	ENST00000190165.2	+	2	1321	c.1283G>T	c.(1282-1284)cGc>cTc	p.R428L		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	428					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		CTTCCTGCCCGCGCCACGGAA	0.552																																							uc003zgw.1		NA																	0		p.R428C(1)		ovary(2)|central_nervous_system(1)	3						c.(1282-1284)CGC>CTC		doublesex and mab-3 related transcription factor							82.0	71.0	75.0					9																	990869		2203	4300	6503	SO:0001583	missense	58524				cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:990869G>T	AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"""testis-specific protein"""	614754	"""DMRT-like family A3"""	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.1283G>T	9.37:g.990869G>T	ENSP00000190165:p.Arg428Leu						p.R428L	NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN		Lung(218;0.0196)	2	1321	+		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)	428					Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Missense_Mutation	SNP	ENST00000190165.2	37	c.1283G>T	CCDS6443.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.318222	0.60524	.	.	ENSG00000064218	ENST00000190165	T	0.39056	1.1	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.56093	0.1962	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.59705	-0.7404	10	0.72032	D	0.01	-34.3542	18.7972	0.91999	0.0:0.0:1.0:0.0	.	428	Q9NQL9	DMRT3_HUMAN	L	428	ENSP00000190165:R428L	ENSP00000190165:R428L	R	+	2	0	DMRT3	980869	1.000000	0.71417	0.094000	0.20943	0.326000	0.28443	8.927000	0.92846	2.424000	0.82194	0.655000	0.94253	CGC		0.552	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	NM_021240		12	14	1	0	0.00010058	0.001368	0.000113736	12	14				
KIAA0020	9933	broad.mit.edu	37	9	2834129	2834129	+	Silent	SNP	T	T	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr9:2834129T>C	ENST00000397885.2	-	4	548	c.342A>G	c.(340-342)aaA>aaG	p.K114K		NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	114						endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		TCTTCTTCTTTTTGAAGTCAT	0.348																																							uc003zhp.1		NA																	0				ovary(1)	1						c.(340-342)AAA>AAG		KIAA0020 protein							95.0	94.0	94.0					9																	2834129		2203	4300	6503	SO:0001819	synonymous_variant	9933					endoplasmic reticulum|nucleolus	RNA binding	g.chr9:2834129T>C	AL832239	CCDS6448.2	9p24.2	2012-11-29			ENSG00000080608	ENSG00000080608			29676	protein-coding gene	gene with protein product	"""penguin homolog (Drosophila)"", ""minor histocompatibility antigen HA-8"""	609960				7584026, 7584028, 21266351	Standard	NM_014878		Approved	XTP5, PEN, PUF6, hPUF-A, HA-8	uc003zhp.1	Q15397	OTTHUMG00000019450	ENST00000397885.2:c.342A>G	9.37:g.2834129T>C						KIAA0020_uc010mhc.1_Silent_p.K113K|KIAA0020_uc003zhq.1_Silent_p.K114K	p.K114K	NM_014878	NP_055693	Q15397	K0020_HUMAN		GBM - Glioblastoma multiforme(50;0.0319)	4	438	-			114					A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	Silent	SNP	ENST00000397885.2	37	c.342A>G	CCDS6448.2																																																																																				0.348	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051529.3	NM_014878		7	6	0	0	0	0.004482	0	7	6				
INSL4	3641	broad.mit.edu	37	9	5231714	5231714	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr9:5231714C>A	ENST00000239316.4	+	1	296	c.191C>A	c.(190-192)cCc>cAc	p.P64H		NM_002195.1	NP_002186.1	Q14641	INSL4_HUMAN	insulin-like 4 (placenta)	64					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	insulin-like growth factor receptor binding (GO:0005159)|receptor binding (GO:0005102)			endometrium(2)|lung(2)|skin(1)|urinary_tract(1)	6	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)		TCTGGACGTCCCAAAGGTGAG	0.512																																							uc003ziy.2		NA																	0					0						c.(190-192)CCC>CAC		insulin-like 4 precursor							45.0	45.0	45.0					9																	5231714		2203	4300	6503	SO:0001583	missense	3641				cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction	extracellular space|soluble fraction	hormone activity|insulin-like growth factor receptor binding	g.chr9:5231714C>A		CCDS6459.1	9p24	2008-02-05			ENSG00000120211	ENSG00000120211			6087	protein-coding gene	gene with protein product		600910				8666396, 9730618	Standard	NM_002195		Approved	EPIL	uc003ziy.3	Q14641	OTTHUMG00000019494	ENST00000239316.4:c.191C>A	9.37:g.5231714C>A	ENSP00000239316:p.Pro64His						p.P64H	NM_002195	NP_002186	Q14641	INSL4_HUMAN		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)	1	296	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)	64					A8K678|Q5W127	Missense_Mutation	SNP	ENST00000239316.4	37	c.191C>A	CCDS6459.1	.	.	.	.	.	.	.	.	.	.	C	4.225	0.040663	0.08196	.	.	ENSG00000120211	ENST00000239316	T	0.20598	2.06	1.58	-3.16	0.05217	.	6.915700	0.01406	U	0.013812	T	0.13543	0.0328	L	0.27053	0.805	0.09310	N	1	D	0.53462	0.96	B	0.41299	0.353	T	0.13469	-1.0508	10	0.56958	D	0.05	.	2.2615	0.04068	0.4139:0.2472:0.0:0.3389	.	64	Q14641	INSL4_HUMAN	H	64	ENSP00000239316:P64H	ENSP00000239316:P64H	P	+	2	0	INSL4	5221714	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.535000	0.02210	-1.409000	0.02038	0.205000	0.17691	CCC		0.512	INSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051616.2	NM_002195		11	13	1	0	0.000978159	0.000978	0.00106403	11	13				
NFIB	4781	broad.mit.edu	37	9	14307439	14307439	+	Silent	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr9:14307439T>A	ENST00000380959.3	-	2	584	c.111A>T	c.(109-111)cgA>cgT	p.R37R	NFIB_ENST00000397579.2_Silent_p.R37R|NFIB_ENST00000397581.2_Silent_p.R37R|NFIB_ENST00000397575.3_Silent_p.R37R|NFIB_ENST00000380934.4_Silent_p.R63R|NFIB_ENST00000380953.1_Silent_p.R37R|NFIB_ENST00000380921.3_Silent_p.R37R	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	37				R -> G (in Ref. 4; BAD18416). {ECO:0000305}.	anterior commissure morphogenesis (GO:0021960)|chondrocyte differentiation (GO:0002062)|Clara cell differentiation (GO:0060486)|commissural neuron axon guidance (GO:0071679)|DNA replication (GO:0006260)|glial cell differentiation (GO:0010001)|hindbrain development (GO:0030902)|lung ciliated cell differentiation (GO:0061141)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000795)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|principal sensory nucleus of trigeminal nerve development (GO:0021740)|transcription from RNA polymerase II promoter (GO:0006366)|Type I pneumocyte differentiation (GO:0060509)|Type II pneumocyte differentiation (GO:0060510)	cerebellar mossy fiber (GO:0044300)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		ACTTGCGTTTTCGAGCCTGCA	0.443			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""																																Esophageal Squamous(132;921 1730 14828 40753 46471)	Esophageal Squamous(132;921 1730 14828 40753 46471)	uc003zle.2		NA		Dom	yes		9	9p24.1	4781	T	nuclear factor I/B			E	MYB|HGMA2		adenoid cystic carcinoma|lipoma		0					0						c.(109-111)CGA>CGT		nuclear factor I/B							93.0	89.0	90.0					9																	14307439		2203	4300	6503	SO:0001819	synonymous_variant	4781				anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr9:14307439T>A	U07810	CCDS6474.1, CCDS55291.1, CCDS55292.1, CCDS65007.1	9p24.1	2008-02-05			ENSG00000147862	ENSG00000147862			7785	protein-coding gene	gene with protein product		600728				7590749	Standard	NM_001190737		Approved	NFI-RED, NFIB2, NFIB3	uc003zlf.3	O00712	OTTHUMG00000021027	ENST00000380959.3:c.111A>T	9.37:g.14307439T>A						NFIB_uc003zlf.2_Silent_p.R37R|NFIB_uc011lmo.1_Silent_p.R37R	p.R37R	NM_005596	NP_005587	O00712	NFIB_HUMAN		GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)	2	546	-			37			CTF/NF-I.		G3V1P1|H7BYE8|O00166|Q12858|Q5VW29|Q63HM5|Q6ZNF9|Q96J45	Silent	SNP	ENST00000380959.3	37	c.111A>T	CCDS6474.1																																																																																				0.443	NFIB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055468.1	NM_005596		16	10	0	0	0	0.00499	0	16	10				
ADAMTSL1	92949	broad.mit.edu	37	9	18889718	18889718	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr9:18889718G>T	ENST00000380548.4	+	25	4954	c.4615G>T	c.(4615-4617)Gcg>Tcg	p.A1539S	ADAMTSL1_ENST00000380545.5_Missense_Mutation_p.A240S	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1539						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)		GCAGCCCATCGCGTGCAACCG	0.667																																							uc003zne.3		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5						c.(4615-4617)GCG>TCG		ADAMTS-like 1 isoform 4 precursor							22.0	27.0	25.0					9																	18889718		2109	4225	6334	SO:0001583	missense	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18889718G>T	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.4615G>T	9.37:g.18889718G>T	ENSP00000369921:p.Ala1539Ser					ADAMTSL1_uc003znf.3_Missense_Mutation_p.A240S	p.A1539S	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	25	4742	+			1539					A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	c.4615G>T	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	G	11.30	1.599093	0.28534	.	.	ENSG00000178031	ENST00000380548;ENST00000380545;ENST00000316239;ENST00000380541;ENST00000380538	T;T;T	0.60797	0.16;0.16;0.16	5.6	3.73	0.42828	.	0.266310	0.36854	N	0.002363	T	0.42177	0.1191	L	0.31371	0.925	0.34833	D	0.739861	P;P	0.45348	0.841;0.856	B;B	0.37989	0.253;0.262	T	0.49303	-0.8954	10	0.11485	T	0.65	.	16.4367	0.83878	0.0:0.2482:0.7518:0.0	.	240;1539	Q8N6G6-6;Q8N6G6	.;ATL1_HUMAN	S	1539;240;243;243;141	ENSP00000369921:A1539S;ENSP00000369918:A240S;ENSP00000369911:A141S	ENSP00000325584:A243S	A	+	1	0	ADAMTSL1	18879718	0.993000	0.37304	0.639000	0.29394	0.174000	0.22865	2.338000	0.43957	0.822000	0.34565	0.650000	0.86243	GCG		0.667	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			3	5	1	0	2.56e-06	0.009096	3.10246e-06	3	5				
MLLT3	4300	broad.mit.edu	37	9	20414338	20414338	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr9:20414338C>A	ENST00000380338.4	-	5	792	c.506G>T	c.(505-507)aGc>aTc	p.S169I	MLLT3_ENST00000429426.2_Missense_Mutation_p.S166I|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	169	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		gctgctgctgctgctactgct	0.542			T	MLL	ALL																																		uc003zoe.2		NA		Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		0				lung(2)|ovary(1)	3						c.(505-507)AGC>ATC		myeloid/lymphoid or mixed-lineage leukemia							9.0	16.0	14.0					9																	20414338		1692	3477	5169	SO:0001583	missense	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414338C>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.506G>T	9.37:g.20414338C>A	ENSP00000369695:p.Ser169Ile					MLLT3_uc011lne.1_Missense_Mutation_p.S137I|MLLT3_uc011lnf.1_Missense_Mutation_p.S166I|MLLT3_uc003zof.2_5'UTR|MLLT3_uc011lng.1_Missense_Mutation_p.A131S	p.S169I	NM_004529	NP_004520	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	765	-			169			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Missense_Mutation	SNP	ENST00000380338.4	37	c.506G>T	CCDS6494.1	.	.	.	.	.	.	.	.	.	.	C	6.784	0.513565	0.12944	.	.	ENSG00000171843	ENST00000380338;ENST00000429426;ENST00000540751	.	.	.	4.31	4.31	0.51392	.	0.582960	0.20030	N	0.100729	T	0.40247	0.1109	N	0.14661	0.345	0.80722	D	1	B;B	0.12013	0.005;0.002	B;B	0.12156	0.007;0.005	T	0.27365	-1.0076	9	0.44086	T	0.13	-2.7773	12.5656	0.56308	0.0:1.0:0.0:0.0	.	166;169	B7Z755;P42568	.;AF9_HUMAN	I	169;166;208	.	ENSP00000369695:S169I	S	-	2	0	MLLT3	20404338	0.969000	0.33509	1.000000	0.80357	0.211000	0.24417	-0.235000	0.09016	2.681000	0.91329	0.591000	0.81541	AGC		0.542	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		3	8	1	0	1.23904e-05	0.000602	1.44506e-05	3	8				
FOCAD	54914	broad.mit.edu	37	9	20740332	20740332	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr9:20740332A>C	ENST00000380249.1	+	7	749	c.385A>C	c.(385-387)Acc>Ccc	p.T129P	FOCAD_ENST00000338382.6_Missense_Mutation_p.T129P	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	129						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											GAGTATATATACCATTAGGTA	0.289																																							uc003zog.1		NA																	0				ovary(8)|breast(1)|kidney(1)	10						c.(385-387)ACC>CCC		hypothetical protein LOC54914							69.0	68.0	68.0					9																	20740332		2203	4296	6499	SO:0001583	missense	54914					integral to membrane	binding	g.chr9:20740332A>C	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.385A>C	9.37:g.20740332A>C	ENSP00000369599:p.Thr129Pro						p.T129P	NM_017794	NP_060264	Q5VW36	K1797_HUMAN		GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)	7	748	+			129					D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	c.385A>C	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	A	8.723	0.914826	0.17907	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.21932	1.98;1.98	5.43	-0.645	0.11475	Domain of unknown function DUF3730 (1);	1.003840	0.08014	N	0.990929	T	0.09291	0.0229	N	0.08118	0	0.18873	N	0.999989	B	0.30937	0.301	B	0.29663	0.105	T	0.31024	-0.9958	10	0.48119	T	0.1	-2.3038	3.6347	0.08145	0.3974:0.0:0.1245:0.4781	.	129	Q5VW36	K1797_HUMAN	P	129	ENSP00000369599:T129P;ENSP00000344307:T129P	ENSP00000344307:T129P	T	+	1	0	KIAA1797	20730332	0.999000	0.42202	0.922000	0.36590	0.112000	0.19704	1.432000	0.34936	-0.017000	0.14103	0.459000	0.35465	ACC		0.289	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		17	21	0	0	0	0.007413	0	17	21				
C9orf131	138724	broad.mit.edu	37	9	35044853	35044853	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr9:35044853C>A	ENST00000312292.5	+	2	2274	c.2227C>A	c.(2227-2229)Cgc>Agc	p.R743S	C9orf131_ENST00000421362.2_Missense_Mutation_p.R695S|C9orf131_ENST00000354479.5_Missense_Mutation_p.R670S|FLJ00273_ENST00000595331.1_5'Flank	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	743										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			GAAGATTGAACGCACTCATCC	0.592																																							uc003zvw.2		NA																	0					0						c.(2227-2229)CGC>AGC		hypothetical protein LOC138724 isoform A							84.0	83.0	83.0					9																	35044853		2203	4300	6503	SO:0001583	missense	138724							g.chr9:35044853C>A	BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.2227C>A	9.37:g.35044853C>A	ENSP00000308279:p.Arg743Ser					C9orf131_uc003zvu.2_Missense_Mutation_p.R695S|C9orf131_uc003zvv.2_Missense_Mutation_p.R670S|C9orf131_uc003zvx.2_Missense_Mutation_p.R708S	p.R743S	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		2	2256	+	all_epithelial(49;0.22)		743					A6NLE6|E9PB26|Q86XC6|Q9UF74	Missense_Mutation	SNP	ENST00000312292.5	37	c.2227C>A	CCDS6572.2	.	.	.	.	.	.	.	.	.	.	C	9.884	1.202442	0.22121	.	.	ENSG00000174038	ENST00000421362;ENST00000354479;ENST00000312292;ENST00000435140	T;T;T	0.14893	2.48;2.47;2.48	4.32	1.27	0.21489	.	1.102310	0.07083	N	0.837458	T	0.13756	0.0333	L	0.44542	1.39	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.08055	0.003;0.003;0.003;0.003	T	0.35895	-0.9770	10	0.36615	T	0.2	-0.2012	3.1893	0.06612	0.2074:0.5597:0.0:0.2329	.	218;743;670;695	B4DXT9;Q5VYM1;A6NLE6;E9PB26	.;CI131_HUMAN;.;.	S	695;670;743;218	ENSP00000393683:R695S;ENSP00000346472:R670S;ENSP00000308279:R743S	ENSP00000308279:R743S	R	+	1	0	C9orf131	35034853	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.310000	0.08135	0.150000	0.19136	0.655000	0.94253	CGC		0.592	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299		28	35	1	0	2.09667e-21	0.003755	3.52686e-21	28	35				
FOXD4L5	653427	broad.mit.edu	37	9	70177786	70177786	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr9:70177786C>A	ENST00000377420.1	-	1	1029	c.198G>T	c.(196-198)ggG>ggT	p.G66G		NM_001126334.1	NP_001119806.1	Q5VV16	FX4L5_HUMAN	forkhead box D4-like 5	66					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|lung(2)	7						GAAGCGCAACCCCGCCCCACC	0.672																																							uc010moc.2		NA																	0					0						c.(196-198)GGG>GGT		forkhead box D4-like 5							15.0	44.0	35.0					9																	70177786		330	697	1027	SO:0001819	synonymous_variant	653427				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system 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.chr9:70177786C>A		CCDS47977.1	9q13	2008-07-21			ENSG00000204779	ENSG00000204779			18522	protein-coding gene	gene with protein product						12234674	Standard	NM_001126334		Approved	bA15J10.2, OTTHUMG00000013332	uc010moc.3	Q5VV16	OTTHUMG00000013332	ENST00000377420.1:c.198G>T	9.37:g.70177786C>A							p.G66G	NM_001126334	NP_001119806	Q5VV16	FX4L5_HUMAN			1	1030	-			66						Silent	SNP	ENST00000377420.1	37	c.198G>T	CCDS47977.1																																																																																				0.672	FOXD4L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037122.1	NM_001126334		17	55	1	0	9.57634e-11	0.00333	1.3434e-10	17	55				
TRPM6	140803	broad.mit.edu	37	9	77354770	77354770	+	Missense_Mutation	SNP	C	C	A	rs142946646		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr9:77354770C>A	ENST00000360774.1	-	34	5593	c.5356G>T	c.(5356-5358)Gtc>Ttc	p.V1786F	TRPM6_ENST00000451710.3_Missense_Mutation_p.V1790F|TRPM6_ENST00000376864.4_Missense_Mutation_p.V1790F|TRPM6_ENST00000376872.3_Missense_Mutation_p.V741F|TRPM6_ENST00000361255.3_Missense_Mutation_p.V1781F|TRPM6_ENST00000449912.2_Missense_Mutation_p.V1781F|TRPM6_ENST00000376871.3_Missense_Mutation_p.V623F	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1786	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CAAGTGCTGACGACTCTCATA	0.502																																							uc004ajl.1		NA																	0				lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						c.(5356-5358)GTC>TTC		transient receptor potential cation channel,							114.0	102.0	106.0					9																	77354770		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77354770C>A	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.5356G>T	9.37:g.77354770C>A	ENSP00000354006:p.Val1786Phe					TRPM6_uc004ajk.1_Missense_Mutation_p.V1781F|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Missense_Mutation_p.V737F|TRPM6_uc010mpd.1_Missense_Mutation_p.V619F|TRPM6_uc010mpe.1_Missense_Mutation_p.V333F|TRPM6_uc004ajj.1_Missense_Mutation_p.V742F	p.V1786F	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN			34	5594	-			1786			Alpha-type protein kinase.|Cytoplasmic (Potential).		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.5356G>T	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	18.84	3.709584	0.68730	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376870;ENST00000376864	T;T;T;T;T;T;T	0.13196	2.61;2.61;2.61;2.61;2.61;2.61;2.61	5.96	-0.852	0.10713	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.436979	0.27720	N	0.018137	T	0.22666	0.0547	L	0.40543	1.245	0.34654	D	0.721984	D;D;D;D;P;P	0.71674	0.996;0.996;0.998;0.959;0.897;0.949	D;D;D;P;B;P	0.68353	0.937;0.957;0.957;0.717;0.269;0.595	T	0.14200	-1.0481	10	0.62326	D	0.03	.	11.3445	0.49552	0.0:0.474:0.0:0.526	.	333;619;737;1786;1781;1781	Q9BX84-7;Q9BX84-6;Q9BX84-5;Q9BX84;Q9BX84-3;Q9BX84-2	.;.;.;TRPM6_HUMAN;.;.	F	1786;1790;741;623;1781;1781;332;1790	ENSP00000354006:V1786F;ENSP00000407341:V1790F;ENSP00000366068:V741F;ENSP00000366067:V623F;ENSP00000396672:V1781F;ENSP00000354962:V1781F;ENSP00000366060:V1790F	ENSP00000354006:V1786F	V	-	1	0	TRPM6	76544590	0.997000	0.39634	0.994000	0.49952	0.814000	0.46013	0.513000	0.22770	-0.059000	0.13154	-0.290000	0.09829	GTC		0.502	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		15	33	1	0	2.61681e-11	0.00245	3.72008e-11	15	33				
OSTF1	26578	broad.mit.edu	37	9	77745523	77745523	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr9:77745523C>T	ENST00000346234.6	+	4	312	c.162C>T	c.(160-162)tcC>tcT	p.S54S		NM_012383.4	NP_036515.4	Q92882	OSTF1_HUMAN	osteoclast stimulating factor 1	54	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				ossification (GO:0001503)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)				endometrium(1)|skin(1)	2						AAGGCACCTCCAAAGGCAGGA	0.383																																							uc004ajv.3		NA																	0				skin(1)	1						c.(160-162)TCC>TCT		osteoclast stimulating factor 1							174.0	162.0	166.0					9																	77745523		2203	4300	6503	SO:0001819	synonymous_variant	26578				ossification|signal transduction	cytoplasm	identical protein binding	g.chr9:77745523C>T	U63717	CCDS6651.1	9q13-q21.2	2013-01-10			ENSG00000134996	ENSG00000134996		"""Ankyrin repeat domain containing"""	8510	protein-coding gene	gene with protein product		610180				10092216	Standard	NM_012383		Approved	SH3P2, OSF, bA235O14.1	uc004ajv.4	Q92882	OTTHUMG00000020033	ENST00000346234.6:c.162C>T	9.37:g.77745523C>T						OSTF1_uc004ajw.3_Silent_p.S11S|OSTF1_uc004ajx.3_Silent_p.S57S	p.S54S	NM_012383	NP_036515	Q92882	OSTF1_HUMAN			4	373	+			54			SH3.		Q5W126|Q96IJ4	Silent	SNP	ENST00000346234.6	37	c.162C>T	CCDS6651.1																																																																																				0.383	OSTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052704.1	NM_012383		22	33	0	0	0	0.00632	0	22	33				
SPATA31D1	389763	broad.mit.edu	37	9	84608662	84608662	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr9:84608662C>T	ENST00000344803.2	+	4	3324	c.3277C>T	c.(3277-3279)Cca>Tca	p.P1093S		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1093					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TCTGCCCCCGCCACACAGCAT	0.517																																							uc004amn.2		NA																	0					0						c.(3277-3279)CCA>TCA		hypothetical protein LOC389763							45.0	46.0	46.0					9																	84608662		1929	4138	6067	SO:0001583	missense	389763					integral to membrane		g.chr9:84608662C>T		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.3277C>T	9.37:g.84608662C>T	ENSP00000341988:p.Pro1093Ser						p.P1093S	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			4	3324	+			1093						Missense_Mutation	SNP	ENST00000344803.2	37	c.3277C>T	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	C	0.136	-1.107823	0.01813	.	.	ENSG00000214929	ENST00000344803	T	0.04502	3.61	1.98	-3.97	0.04094	.	.	.	.	.	T	0.01730	0.0055	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44590	-0.9318	9	0.09843	T	0.71	0.2162	1.0771	0.01634	0.4702:0.2343:0.1368:0.1587	.	1093	Q6ZQQ2	F75D1_HUMAN	S	1093	ENSP00000341988:P1093S	ENSP00000341988:P1093S	P	+	1	0	FAM75D1	83798482	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.929000	0.03976	-2.112000	0.00835	-2.993000	0.00078	CCA		0.517	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		8	22	0	0	0	0.004482	0	8	22				
ZCCHC6	79670	broad.mit.edu	37	9	88938432	88938432	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr9:88938432C>A	ENST00000375963.3	-	13	2405	c.2233G>T	c.(2233-2235)Gaa>Taa	p.E745*	ZCCHC6_ENST00000375961.2_Nonsense_Mutation_p.E745*|ZCCHC6_ENST00000277141.6_Nonsense_Mutation_p.E34*|ZCCHC6_ENST00000469004.1_5'Flank|ZCCHC6_ENST00000375960.2_Nonsense_Mutation_p.E622*	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	745					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						CTTCCTGTTTCTGGATGGTAT	0.433																																							uc004aoq.2		NA																	0				ovary(2)	2						c.(2233-2235)GAA>TAA		zinc finger, CCHC domain containing 6							230.0	206.0	214.0					9																	88938432		2203	4300	6503	SO:0001587	stop_gained	79670				RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding	g.chr9:88938432C>A	AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.2233G>T	9.37:g.88938432C>A	ENSP00000365130:p.Glu745*					ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Nonsense_Mutation_p.E622*|ZCCHC6_uc004aou.2_Nonsense_Mutation_p.E745*	p.E745*	NM_024617	NP_078893	Q5VYS8	TUT7_HUMAN			13	2448	-			745					Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Nonsense_Mutation	SNP	ENST00000375963.3	37	c.2233G>T	CCDS35057.1	.	.	.	.	.	.	.	.	.	.	C	37	6.377763	0.97520	.	.	ENSG00000083223	ENST00000277141;ENST00000375960;ENST00000375961;ENST00000375963	.	.	.	5.12	2.29	0.28610	.	0.227395	0.37483	N	0.002067	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-7.6398	10.3564	0.43967	0.0:0.7872:0.0:0.2128	.	.	.	.	X	34;622;745;745	.	ENSP00000277141:E34X	E	-	1	0	ZCCHC6	88128252	0.982000	0.34865	0.024000	0.17045	0.017000	0.09413	1.446000	0.35090	0.426000	0.26116	-0.145000	0.13849	GAA		0.433	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617		38	40	1	0	5.04308e-16	0.00623	7.96924e-16	38	40				
DAPK1	1612	broad.mit.edu	37	9	90255720	90255720	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr9:90255720G>C	ENST00000408954.3	+	9	1121	c.786G>C	c.(784-786)aaG>aaC	p.K262N	DAPK1_ENST00000469640.2_Missense_Mutation_p.K262N|DAPK1_ENST00000358077.5_Missense_Mutation_p.K262N|DAPK1_ENST00000472284.1_Missense_Mutation_p.K262N|DAPK1_ENST00000491893.1_Missense_Mutation_p.K262N	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	262	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CCTCAAGGAAGAGAATGACAA	0.443									Chronic Lymphocytic Leukemia, Familial Clustering of																														uc004apc.2		NA																	0				ovary(1)|breast(1)	2						c.(784-786)AAG>AAC		death-associated protein kinase 1							197.0	178.0	184.0					9																	90255720		1934	4145	6079	SO:0001583	missense	1612	Chronic_Lymphocytic_Leukemia_Familial_Clustering_of	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90255720G>C	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.786G>C	9.37:g.90255720G>C	ENSP00000386135:p.Lys262Asn					DAPK1_uc004ape.2_Missense_Mutation_p.K262N|DAPK1_uc004apd.2_Missense_Mutation_p.K262N|DAPK1_uc011ltg.1_Missense_Mutation_p.K262N|DAPK1_uc011lth.1_5'UTR	p.K262N	NM_004938	NP_004929	P53355	DAPK1_HUMAN			9	924	+			262			Protein kinase.		B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	ENST00000408954.3	37	c.786G>C	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.899488	0.72754	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35	5.06	3.23	0.37069	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.52532	D	0.000073	T	0.74435	0.3716	L	0.55213	1.73	0.80722	D	1	D;D;D	0.76494	0.989;0.996;0.999	P;D;D	0.80764	0.882;0.929;0.994	T	0.74578	-0.3619	10	0.52906	T	0.07	.	9.5141	0.39095	0.2235:0.0:0.7765:0.0	.	262;262;262	B7ZLE7;B7Z454;P53355	.;.;DAPK1_HUMAN	N	262	ENSP00000350785:K262N;ENSP00000417076:K262N;ENSP00000418885:K262N;ENSP00000386135:K262N;ENSP00000419026:K262N	ENSP00000350785:K262N	K	+	3	2	DAPK1	89445540	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.784000	0.38674	1.497000	0.48584	0.655000	0.94253	AAG		0.443	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		45	76	0	0	0	0.00361	0	45	76				
SPATA31C2	645961	broad.mit.edu	37	9	90745252	90745252	+	IGR	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr9:90745252G>T								U6 (132002 upstream) : U3 (243931 downstream)																							GATGGCCCTGGGGCACTTGAG	0.552																																							uc011lti.1		NA																	0					NA						c.(2698-2700)CCC>CCA		SubName: Full=cDNA FLJ59639;							6.0	9.0	8.0					9																	90745252		683	1581	2264	SO:0001628	intergenic_variant	0							g.chr9:90745252G>T																													9.37:g.90745252G>T						uc004apx.1_5'Flank	p.P900P							4	2729	-									Silent	SNP		37	c.2700C>A																																																																																				0	0.552									21	22	1	0	1.50039e-11	0.001882	2.15148e-11	21	22				
C9orf156	51531	broad.mit.edu	37	9	100667197	100667197	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr9:100667197C>T	ENST00000375119.3	-	5	1220	c.1144G>A	c.(1144-1146)Gat>Aat	p.D382N		NM_016481.3	NP_057565.3	Q9BU70	NAP1_HUMAN	chromosome 9 open reading frame 156	382					viral process (GO:0016032)		hydrolase activity (GO:0016787)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13		Acute lymphoblastic leukemia(62;0.158)				GACCGAGGATCCGCTGACAGC	0.483																																							uc004axv.1		NA																	0					0						c.(1144-1146)GAT>AAT		Nef associated protein 1							81.0	78.0	79.0					9																	100667197		2203	4300	6503	SO:0001583	missense	51531				interspecies interaction between organisms		hydrolase activity	g.chr9:100667197C>T	AK023069	CCDS6730.1	9q31.1	2011-03-02			ENSG00000136932	ENSG00000136932			30967	protein-coding gene	gene with protein product	"""Nef (lentivirus myristoylated factor) associated protein 1"""						Standard	NM_016481		Approved	HSPC219, NAP1	uc004axv.1	Q9BU70	OTTHUMG00000021007	ENST00000375119.3:c.1144G>A	9.37:g.100667197C>T	ENSP00000364260:p.Asp382Asn					C9orf156_uc004axw.1_Missense_Mutation_p.D279N|C9orf156_uc004axx.1_Missense_Mutation_p.D236N	p.D382N	NM_016481	NP_057565	Q9BU70	NAP1_HUMAN			5	1221	-		Acute lymphoblastic leukemia(62;0.158)	382					Q5T113|Q86SK0|Q9NXJ7|Q9P0Q7	Missense_Mutation	SNP	ENST00000375119.3	37	c.1144G>A	CCDS6730.1	.	.	.	.	.	.	.	.	.	.	C	33	5.226992	0.95173	.	.	ENSG00000136932	ENST00000375119;ENST00000375118	T;T	0.58358	0.34;0.34	5.19	5.19	0.71726	Uncharacterised domain UPF0066, YaeB-like domain (1);	0.000000	0.85682	D	0.000000	T	0.75810	0.3900	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.80034	-0.1551	10	0.87932	D	0	-22.2768	16.5983	0.84802	0.0:1.0:0.0:0.0	.	236;382	Q5T114;Q9BU70	.;NAP1_HUMAN	N	382;236	ENSP00000364260:D382N;ENSP00000364259:D236N	ENSP00000364259:D236N	D	-	1	0	C9orf156	99707018	1.000000	0.71417	0.248000	0.24265	0.942000	0.58702	6.382000	0.73167	2.577000	0.86979	0.655000	0.94253	GAT		0.483	C9orf156-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055401.1	NM_016481		12	26	0	0	0	0.001368	0	12	26				
COL15A1	1306	broad.mit.edu	37	9	101800987	101800987	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr9:101800987C>A	ENST00000375001.3	+	22	2870	c.2447C>A	c.(2446-2448)tCg>tAg	p.S816*		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	816	Nonhelical region 4 (NC4).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				ATGAATTTCTCGGACATTCCT	0.483																																							uc004azb.1		NA																	0				ovary(6)	6						c.(2446-2448)TCG>TAG		alpha 1 type XV collagen precursor							232.0	210.0	218.0					9																	101800987		2203	4300	6503	SO:0001587	stop_gained	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101800987C>A	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.2447C>A	9.37:g.101800987C>A	ENSP00000364140:p.Ser816*						p.S816*	NM_001855	NP_001846	P39059	COFA1_HUMAN			22	2653	+		Acute lymphoblastic leukemia(62;0.0562)	816			Nonhelical region 4 (NC4).		Q5T6J4|Q9UDC5|Q9Y4W4	Nonsense_Mutation	SNP	ENST00000375001.3	37	c.2447C>A	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	C	45	11.290255	0.99542	.	.	ENSG00000204291	ENST00000375001	.	.	.	4.79	4.79	0.61399	.	0.105405	0.41097	D	0.000943	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.5193	13.519	0.61557	0.0:1.0:0.0:0.0	.	.	.	.	X	816	.	ENSP00000364140:S816X	S	+	2	0	COL15A1	100840808	0.971000	0.33674	0.959000	0.39883	0.793000	0.44817	3.202000	0.51067	2.634000	0.89283	0.655000	0.94253	TCG		0.483	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		25	45	1	0	2.42023e-17	0.003271	3.89912e-17	25	45				
CYLC2	1539	broad.mit.edu	37	9	105767107	105767107	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr9:105767107C>A	ENST00000374798.3	+	4	381	c.311C>A	c.(310-312)aCt>aAt	p.T104N	CYLC2_ENST00000487798.1_Missense_Mutation_p.T104N	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	104	31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				CCAACTCGTACTGTCGAGGTG	0.368																																							uc004bbs.2		NA																	0				skin(1)	1						c.(310-312)ACT>AAT		cylicin 2							60.0	60.0	60.0					9																	105767107		2203	4300	6503	SO:0001583	missense	1539				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:105767107C>A	Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.311C>A	9.37:g.105767107C>A	ENSP00000420256:p.Thr104Asn						p.T104N	NM_001340	NP_001331	Q14093	CYLC2_HUMAN			4	381	+		all_hematologic(171;0.125)	104			31 X 3 AA repeats of K-K-X.		B2R8F4|Q5VVJ9	Missense_Mutation	SNP	ENST00000374798.3	37	c.311C>A	CCDS35085.1	.	.	.	.	.	.	.	.	.	.	C	4.116	0.019613	0.08006	.	.	ENSG00000155833	ENST00000374798;ENST00000487798	T;T	0.15256	2.44;2.44	3.49	-4.15	0.03881	.	5.423990	0.00397	N	0.000047	T	0.09069	0.0224	N	0.19112	0.55	0.09310	N	1	P	0.44195	0.828	B	0.40477	0.33	T	0.12760	-1.0535	10	0.21540	T	0.41	10.2725	1.0876	0.01656	0.1787:0.3647:0.2428:0.2138	.	104	Q14093	CYLC2_HUMAN	N	104	ENSP00000420256:T104N;ENSP00000417674:T104N	ENSP00000420256:T104N	T	+	2	0	CYLC2	104806928	.	.	0.000000	0.03702	0.001000	0.01503	.	.	-0.990000	0.03481	0.591000	0.81541	ACT		0.368	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053463.3	NM_001340		4	13	1	0	0.000602214	0.000602	0.00065942	4	13				
OR13F1	138805	broad.mit.edu	37	9	107267456	107267456	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr9:107267456C>G	ENST00000334726.2	+	1	1002	c.913C>G	c.(913-915)Ctg>Gtg	p.L305V		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GAAAAAATTGCTGATTAGAAA	0.353																																							uc011lvm.1		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(913-915)CTG>GTG		olfactory receptor, family 13, subfamily F,							40.0	43.0	42.0					9																	107267456		2203	4300	6503	SO:0001583	missense	138805				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107267456C>G		CCDS35087.1	9q31.1	2013-09-24			ENSG00000186881	ENSG00000186881		"""GPCR / Class A : Olfactory receptors"""	14723	protein-coding gene	gene with protein product							Standard	NM_001004485		Approved		uc011lvm.2	Q8NGS4	OTTHUMG00000020404	ENST00000334726.2:c.913C>G	9.37:g.107267456C>G	ENSP00000334452:p.Leu305Val						p.L305V	NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN			1	913	+			305			Cytoplasmic (Potential).		Q6IF50	Missense_Mutation	SNP	ENST00000334726.2	37	c.913C>G	CCDS35087.1	.	.	.	.	.	.	.	.	.	.	C	4.118	0.020035	0.08006	.	.	ENSG00000186881	ENST00000334726	T	0.48836	0.8	4.3	2.42	0.29668	.	0.180365	0.26532	N	0.023843	T	0.30978	0.0782	L	0.33710	1.025	0.09310	N	0.999999	B	0.14805	0.011	B	0.21151	0.033	T	0.14227	-1.0480	10	0.21540	T	0.41	.	6.1261	0.20180	0.0:0.7681:0.0:0.2319	.	305	Q8NGS4	O13F1_HUMAN	V	305	ENSP00000334452:L305V	ENSP00000334452:L305V	L	+	1	2	OR13F1	106307277	0.000000	0.05858	0.873000	0.34254	0.636000	0.38137	-0.309000	0.08145	0.730000	0.32425	0.655000	0.94253	CTG		0.353	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053475.1			12	24	0	0	0	0.001855	0	12	24				
OR13C8	138802	broad.mit.edu	37	9	107332233	107332233	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr9:107332233C>A	ENST00000335040.1	+	1	785	c.785C>A	c.(784-786)cCt>cAt	p.P262H		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	262						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TACGCAAAGCCTGAGTCTAAA	0.458																																							uc011lvo.1		NA																	0				ovary(1)|skin(1)	2						c.(784-786)CCT>CAT		olfactory receptor, family 13, subfamily C,							110.0	97.0	101.0					9																	107332233		2203	4300	6503	SO:0001583	missense	138802				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107332233C>A		CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"""GPCR / Class A : Olfactory receptors"""	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.785C>A	9.37:g.107332233C>A	ENSP00000334068:p.Pro262His						p.P262H	NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN			1	785	+			262			Extracellular (Potential).		Q5VVG0|Q96R44	Missense_Mutation	SNP	ENST00000335040.1	37	c.785C>A	CCDS35090.1	.	.	.	.	.	.	.	.	.	.	C	10.54	1.379174	0.24944	.	.	ENSG00000186943	ENST00000335040	T	0.00272	8.36	4.9	4.9	0.64082	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000042	T	0.01156	0.0038	H	0.96239	3.79	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.18147	-1.0346	10	0.87932	D	0	.	15.9532	0.79859	0.0:1.0:0.0:0.0	.	262	Q8NGS7	O13C8_HUMAN	H	262	ENSP00000334068:P262H	ENSP00000334068:P262H	P	+	2	0	OR13C8	106372054	0.014000	0.17966	1.000000	0.80357	0.043000	0.13939	1.397000	0.34543	2.701000	0.92244	0.561000	0.74099	CCT		0.458	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053480.1			12	26	1	0	6.40141e-05	0.000978	7.28859e-05	12	26				
EPB41L4B	54566	broad.mit.edu	37	9	112018505	112018505	+	Splice_Site	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr9:112018505C>T	ENST00000374566.3	-	9	1358		c.e9-1		EPB41L4B_ENST00000374557.4_Splice_Site	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B						actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CATCTCTTCCCTACAAACAAA	0.393																																							uc004bdz.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.e9-1		erythrocyte membrane protein band 4.1 like 4B							100.0	97.0	98.0					9																	112018505		1930	4136	6066	SO:0001630	splice_region_variant	54566					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton	g.chr9:112018505C>T	AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.841-1G>A	9.37:g.112018505C>T						EPB41L4B_uc004bea.2_Splice_Site_p.G281_splice	p.G281_splice	NM_019114	NP_061987	Q9H329	E41LB_HUMAN			9	1136	-								Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Splice_Site	SNP	ENST00000374566.3	37	c.841_splice	CCDS43859.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.850998	0.91277	.	.	ENSG00000095203	ENST00000374566;ENST00000374557;ENST00000311609	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3343	0.98733	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EPB41L4B	111058326	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.792000	0.85828	2.822000	0.97130	0.650000	0.86243	.		0.393	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	NM_018424	Intron	22	30	0	0	0	0.003954	0	22	30				
DAB2IP	153090	broad.mit.edu	37	9	124534959	124534959	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr9:124534959G>T	ENST00000408936.3	+	12	2334	c.2152G>T	c.(2152-2154)Ggg>Tgg	p.G718W	DAB2IP_ENST00000309989.1_Missense_Mutation_p.G594W|DAB2IP_ENST00000259371.2_Missense_Mutation_p.G690W			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	718	Necessary for interaction with AKT1.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						AAGGTCCTCCGGGGTCCAGCC	0.567																																							uc004bln.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2068-2070)GGG>TGG		disabled homolog 2 interacting protein isoform							70.0	68.0	69.0					9																	124534959		2203	4300	6503	SO:0001583	missense	153090				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity	g.chr9:124534959G>T	AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"""nGAP-like protein"", ""DOC-2/DAB2 interactive protein"", ""ASK-interacting protein"", ""ASK1-interacting protein 1"""	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.2152G>T	9.37:g.124534959G>T	ENSP00000386183:p.Gly718Trp					DAB2IP_uc004blo.2_Missense_Mutation_p.G594W|DAB2IP_uc004blp.2_Missense_Mutation_p.G123W	p.G690W	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN			12	2137	+			718					A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Missense_Mutation	SNP	ENST00000408936.3	37	c.2068G>T		.	.	.	.	.	.	.	.	.	.	G	20.7	4.031883	0.75504	.	.	ENSG00000136848	ENST00000259371;ENST00000408936;ENST00000373782;ENST00000309989	T;T;T;T	0.12465	2.68;2.68;2.68;2.68	4.59	4.59	0.56863	.	0.936212	0.09042	N	0.857153	T	0.37293	0.0998	L	0.57536	1.79	0.58432	D	0.999992	D;D	0.76494	0.999;0.996	D;D	0.73380	0.98;0.967	T	0.02909	-1.1095	10	0.56958	D	0.05	.	16.7362	0.85447	0.0:0.0:1.0:0.0	.	718;690	Q5VWQ8;G3XA90	DAB2P_HUMAN;.	W	690;718;627;594	ENSP00000259371:G690W;ENSP00000386183:G718W;ENSP00000362887:G627W;ENSP00000310827:G594W	ENSP00000259371:G690W	G	+	1	0	DAB2IP	123574780	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.571000	0.82399	2.259000	0.74868	0.462000	0.41574	GGG		0.567	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1	NM_032552		21	33	1	0	1.50039e-11	0.001882	2.15148e-11	21	33				
LHX6	26468	broad.mit.edu	37	9	124976561	124976561	+	Splice_Site	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr9:124976561C>A	ENST00000373755.2	-	5	805		c.e5+1		LHX6_ENST00000340587.3_Splice_Site|LHX6_ENST00000394319.4_Splice_Site|LHX6_ENST00000373754.2_Splice_Site|LHX6_ENST00000559895.1_Splice_Site|LHX6_ENST00000482062.1_5'Flank|LHX6_ENST00000541397.2_Splice_Site|LHX6_ENST00000464484.2_5'Flank	NM_001242334.1	NP_001229263.1	Q9UPM6	LHX6_HUMAN	LIM homeobox 6						cell maturation (GO:0048469)|cerebral cortex GABAergic interneuron migration (GO:0021853)|cerebral cortex radially oriented cell migration (GO:0021799)|cerebral cortex tangential migration (GO:0021800)|forebrain neuron fate commitment (GO:0021877)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(5)	8						TGCAGCGGTACCTGCAGCTGT	0.731																																							uc010mvw.2		NA																	0					0						c.e5+1		LIM homeobox protein 6 isoform 1							18.0	17.0	18.0					9																	124976561		2201	4297	6498	SO:0001630	splice_region_variant	26468				cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:124976561C>A	AB031041	CCDS6837.2, CCDS6838.2, CCDS56583.1, CCDS56584.1, CCDS59144.1	9q33.2	2011-06-20			ENSG00000106852	ENSG00000106852		"""Homeoboxes / LIM class"""	21735	protein-coding gene	gene with protein product		608215				10393337	Standard	NM_014368		Approved	LHX6.1	uc004blx.4	Q9UPM6	OTTHUMG00000020601	ENST00000373755.2:c.696+1G>T	9.37:g.124976561C>A						LHX6_uc004blx.3_Splice_Site_p.Q261_splice|LHX6_uc004bly.3_Splice_Site_p.Q261_splice	p.Q232_splice	NM_014368	NP_055183	Q9UPM6	LHX6_HUMAN			5	805	-								A6PVQ1|A6PVQ2|A8K1B2|B7Z4D0|H0YN76|Q5T7S7|Q5T7S8|Q9NTK3|Q9UPM5	Splice_Site	SNP	ENST00000373755.2	37	c.696_splice	CCDS56583.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.164675	0.57476	.	.	ENSG00000106852	ENST00000373755;ENST00000373754;ENST00000394319;ENST00000340587;ENST00000541397	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3302	0.87261	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LHX6	124016382	1.000000	0.71417	1.000000	0.80357	0.424000	0.31475	6.808000	0.75206	2.513000	0.84729	0.585000	0.79938	.		0.731	LHX6-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053924.2	NM_014368	Intron	7	15	1	0	0.000442599	0.006214	0.000487515	7	15				
CRB2	286204	broad.mit.edu	37	9	126125366	126125366	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr9:126125366A>C	ENST00000373631.3	+	2	318	c.317A>C	c.(316-318)gAg>gCg	p.E106A	CRB2_ENST00000359999.3_Missense_Mutation_p.E106A	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	106	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CCACGCTGCGAGCTGGACATC	0.672																																							uc004bnx.1		NA																	0				ovary(1)	1						c.(316-318)GAG>GCG		crumbs homolog 2 precursor							40.0	35.0	37.0					9																	126125366		2202	4299	6501	SO:0001583	missense	286204					extracellular region|integral to membrane|plasma membrane	calcium ion binding	g.chr9:126125366A>C	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"""crumbs homolog 2 (Drosophila)"""			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.317A>C	9.37:g.126125366A>C	ENSP00000362734:p.Glu106Ala					CRB2_uc004bnw.1_Missense_Mutation_p.E106A	p.E106A	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN			2	409	+			106			Extracellular (Potential).|EGF-like 1.		A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_Mutation	SNP	ENST00000373631.3	37	c.317A>C	CCDS6852.2	.	.	.	.	.	.	.	.	.	.	A	23.8	4.460342	0.84317	.	.	ENSG00000148204	ENST00000359999;ENST00000373631	T;T	0.77750	-1.12;-1.12	4.98	4.98	0.66077	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.43747	D	0.000529	D	0.85548	0.5722	M	0.75777	2.31	0.80722	D	1	D;D	0.71674	0.996;0.998	P;D	0.81914	0.876;0.995	D	0.86258	0.1653	10	0.62326	D	0.03	.	8.862	0.35263	0.9122:0.0:0.0878:0.0	.	106;106	Q5IJ48;Q5IJ48-2	CRUM2_HUMAN;.	A	106	ENSP00000353092:E106A;ENSP00000362734:E106A	ENSP00000353092:E106A	E	+	2	0	CRB2	125165187	1.000000	0.71417	0.999000	0.59377	0.882000	0.50991	7.101000	0.76997	2.102000	0.63906	0.448000	0.29417	GAG		0.672	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689		11	9	0	0	0	0.001368	0	11	9				
ZNF79	7633	broad.mit.edu	37	9	130207408	130207408	+	Nonsense_Mutation	SNP	G	G	T	rs183245376	byFrequency	TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr9:130207408G>T	ENST00000342483.5	+	5	1835	c.1429G>T	c.(1429-1431)Gag>Tag	p.E477*	RPL12_ENST00000497322.1_5'Flank|ZNF79_ENST00000543471.1_Nonsense_Mutation_p.E453*	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	477					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(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						CGAATGCAGCGAGTGTGGGAA	0.517																																							uc004bqw.3		NA																	0				central_nervous_system(1)	1						c.(1429-1431)GAG>TAG		zinc finger protein 79							133.0	134.0	134.0					9																	130207408		2203	4300	6503	SO:0001587	stop_gained	7633				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:130207408G>T	X65232	CCDS6871.1, CCDS69664.1, CCDS75904.1	9q34	2013-01-08	2006-05-12		ENSG00000196152	ENSG00000196152		"""Zinc fingers, C2H2-type"""	13153	protein-coding gene	gene with protein product		194552	"""zinc finger protein 79 (pT7)"""			8478004	Standard	NM_007135		Approved	pT7	uc004bqw.4	Q15937	OTTHUMG00000020703	ENST00000342483.5:c.1429G>T	9.37:g.130207408G>T	ENSP00000362446:p.Glu477*					ZNF79_uc011maf.1_Nonsense_Mutation_p.E453*|ZNF79_uc011mag.1_Nonsense_Mutation_p.E453*	p.E477*	NM_007135	NP_009066	Q15937	ZNF79_HUMAN			5	1843	+			477			C2H2-type 11.		Q5VVW1|Q96NV1	Nonsense_Mutation	SNP	ENST00000342483.5	37	c.1429G>T	CCDS6871.1	.	.	.	.	.	.	.	.	.	.	G	36	5.707771	0.96821	.	.	ENSG00000196152	ENST00000342483;ENST00000543471	.	.	.	3.83	2.92	0.33932	.	.	.	.	.	.	.	.	.	.	.	0.44432	D	0.997352	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	11.0413	0.47833	0.0:0.19:0.81:0.0	.	.	.	.	X	477;453	.	ENSP00000362446:E477X	E	+	1	0	ZNF79	129247229	0.001000	0.12720	0.417000	0.26559	0.844000	0.47949	0.676000	0.25247	0.808000	0.34231	0.655000	0.94253	GAG		0.517	ZNF79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054188.1	NM_007135		41	82	1	0	8.94452e-30	0.00361	1.58339e-29	41	82				
SARDH	1757	broad.mit.edu	37	9	136595228	136595228	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr9:136595228G>A	ENST00000371872.4	-	5	1029	c.772C>T	c.(772-774)Cag>Tag	p.Q258*	SARDH_ENST00000298628.5_Nonsense_Mutation_p.Q258*|SARDH_ENST00000439388.1_Nonsense_Mutation_p.Q258*|SARDH_ENST00000371867.1_Nonsense_Mutation_p.Q169*|SARDH_ENST00000422262.2_Nonsense_Mutation_p.Q90*	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	258					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GAACCATGCTGAGTCTCCACA	0.582																																							uc004cep.3		NA																	0					0						c.(772-774)CAG>TAG		sarcosine dehydrogenase precursor							113.0	100.0	104.0					9																	136595228		2203	4300	6503	SO:0001587	stop_gained	1757				glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	g.chr9:136595228G>A		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.772C>T	9.37:g.136595228G>A	ENSP00000360938:p.Gln258*					SARDH_uc004ceo.2_Nonsense_Mutation_p.Q258*|SARDH_uc011mdn.1_Nonsense_Mutation_p.Q258*|SARDH_uc011mdo.1_Nonsense_Mutation_p.Q90*	p.Q258*	NM_001134707	NP_001128179	Q9UL12	SARDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)	5	906	-			258					B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Nonsense_Mutation	SNP	ENST00000371872.4	37	c.772C>T	CCDS6978.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241296	0.58995	.	.	ENSG00000123453	ENST00000371872;ENST00000439388;ENST00000422262;ENST00000427237;ENST00000539227;ENST00000535281;ENST00000371867;ENST00000393050;ENST00000298628	.	.	.	5.29	-0.24	0.13047	.	1.742920	0.02877	N	0.132395	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	-8.5899	10.9324	0.47226	0.0:0.2853:0.5783:0.1364	.	.	.	.	X	258;258;90;258;258;258;169;236;258	.	ENSP00000298628:Q258X	Q	-	1	0	SARDH	135585049	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.243000	0.08915	-0.033000	0.13736	-0.340000	0.08031	CAG		0.582	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			20	34	0	0	0	0.001882	0	20	34				
MXRA5	25878	broad.mit.edu	37	X	3239345	3239345	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:3239345C>G	ENST00000217939.6	-	5	4535	c.4381G>C	c.(4381-4383)Gat>Cat	p.D1461H		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1461						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGATCTTGATCAAGGGTGGTG	0.493																																							uc004crg.3		NA																	0				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(4381-4383)GAT>CAT		adlican precursor							76.0	66.0	69.0					X																	3239345		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3239345C>G	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.4381G>C	X.37:g.3239345C>G	ENSP00000217939:p.Asp1461His						p.D1461H	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			5	4538	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1461					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.4381G>C	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	c	7.693	0.691434	0.15039	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.62788	0.0	3.08	2.17	0.27698	.	1.084580	0.07349	U	0.882059	T	0.44477	0.1295	N	0.24115	0.695	0.09310	N	1	B	0.31519	0.327	B	0.25291	0.059	T	0.33137	-0.9880	10	0.39692	T	0.17	.	6.8249	0.23876	0.0:0.8582:0.0:0.1418	.	1461	Q9NR99	MXRA5_HUMAN	H	1461	ENSP00000217939:D1461H	ENSP00000217939:D1461H	D	-	1	0	MXRA5	3249345	0.000000	0.05858	0.004000	0.12327	0.003000	0.03518	-0.487000	0.06505	1.306000	0.44926	0.423000	0.28283	GAT		0.493	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		9	6	0	0	0	0.004482	0	9	6				
MSL3	10943	broad.mit.edu	37	X	11790778	11790778	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:11790778G>T	ENST00000312196.4	+	12	1525	c.1420G>T	c.(1420-1422)Gag>Tag	p.E474*	MSL3_ENST00000380693.3_Nonsense_Mutation_p.E308*|MSL3_ENST00000398527.2_Nonsense_Mutation_p.E462*|MSL3_ENST00000361672.2_Nonsense_Mutation_p.E325*	NM_078629.3	NP_523353.2	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	474	MRG. {ECO:0000255|PROSITE- ProRule:PRU00972}.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|multicellular organismal development (GO:0007275)|transcription from RNA polymerase II promoter (GO:0006366)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						GTCCTTTTCTGAGAAGAATCT	0.333																																							uc004cuw.2		NA																	0				ovary(1)	1						c.(1420-1422)GAG>TAG		male-specific lethal 3-like 1 isoform a							80.0	71.0	74.0					X																	11790778		2203	4300	6503	SO:0001587	stop_gained	10943				histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity	g.chrX:11790778G>T	AF117065	CCDS14147.1, CCDS14148.1, CCDS14149.1, CCDS55369.1, CCDS65213.1	Xp22.3	2008-10-29	2008-10-29	2008-10-29	ENSG00000005302	ENSG00000005302			7370	protein-coding gene	gene with protein product		300609	"""male-specific lethal-3 (Drosophila)-like 1"", ""male-specific lethal 3-like 1 (Drosophila)"""	MSL3L1		10395802, 10908644	Standard	NM_078628		Approved		uc004cuw.3	Q8N5Y2	OTTHUMG00000021132	ENST00000312196.4:c.1420G>T	X.37:g.11790778G>T	ENSP00000312244:p.Glu474*					MSL3_uc004cux.2_Nonsense_Mutation_p.E415*|MSL3_uc011mig.1_Nonsense_Mutation_p.E325*|MSL3_uc011mih.1_Nonsense_Mutation_p.E462*|MSL3_uc004cuy.2_Nonsense_Mutation_p.E308*	p.E474*	NM_078629	NP_523353	Q8N5Y2	MS3L1_HUMAN			12	1525	+			474					A6NCU2|A6NHW8|A8K165|B4DUV8|B7Z227|Q9UG70|Q9Y5Z8	Nonsense_Mutation	SNP	ENST00000312196.4	37	c.1420G>T	CCDS14147.1	.	.	.	.	.	.	.	.	.	.	G	43	9.873753	0.99285	.	.	ENSG00000005302	ENST00000312196;ENST00000361672;ENST00000398527;ENST00000380693	.	.	.	5.0	5.0	0.66597	.	0.123298	0.53938	D	0.000051	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	17.5611	0.87908	0.0:0.0:1.0:0.0	.	.	.	.	X	474;325;462;308	.	ENSP00000312244:E474X	E	+	1	0	MSL3	11700699	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.649000	0.91067	2.074000	0.62210	0.600000	0.82982	GAG		0.333	MSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055757.1	NM_006800		7	8	1	0	0.000274275	0.004482	0.000304364	7	8				
GLRA2	2742	broad.mit.edu	37	X	14622519	14622519	+	Splice_Site	SNP	T	T	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:14622519T>A	ENST00000218075.4	+	5	1107	c.577T>A	c.(577-579)Ttt>Att	p.F193I	GLRA2_ENST00000443437.2_Splice_Site_p.F104I|GLRA2_ENST00000355020.4_Splice_Site_p.F193I	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	193					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)|synapse assembly (GO:0007416)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)|Lindane(DB00431)	GCTGGAGAGTTGTAAGTCACC	0.418																																							uc010nep.2		NA																	0				ovary(1)|lung(1)	2						c.(577-579)TTT>ATT		glycine receptor, alpha 2 isoform A	Ethanol(DB00898)|Glycine(DB00145)						113.0	89.0	97.0					X																	14622519		2203	4300	6503	SO:0001630	splice_region_variant	2742				neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chrX:14622519T>A		CCDS14160.1, CCDS48085.1, CCDS55371.1	Xp22.2	2012-02-07			ENSG00000101958	ENSG00000101958		"""Ligand-gated ion channels / Glycine receptors"""	4327	protein-coding gene	gene with protein product		305990		GLR			Standard	NM_002063		Approved		uc010nep.3	P23416	OTTHUMG00000021166	ENST00000218075.4:c.577+1T>A	X.37:g.14622519T>A						GLRA2_uc010neq.2_Missense_Mutation_p.F193I|GLRA2_uc004cwe.3_Missense_Mutation_p.F193I|GLRA2_uc011mio.1_Missense_Mutation_p.F104I|GLRA2_uc011mip.1_Missense_Mutation_p.F171I	p.F193I	NM_001118885	NP_001112357	P23416	GLRA2_HUMAN			6	909	+	Hepatocellular(33;0.128)		193			Extracellular (Probable).		A8K0J6|B2R6I8|B7Z4F5|J3KQ59|Q53YX7|Q6ICQ0|Q99862	Missense_Mutation	SNP	ENST00000218075.4	37	c.577T>A	CCDS14160.1	.	.	.	.	.	.	.	.	.	.	T	32	5.180897	0.94846	.	.	ENSG00000101958	ENST00000443437;ENST00000218075;ENST00000355020;ENST00000415367	T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15	5.72	5.72	0.89469	Neurotransmitter-gated ion-channel ligand-binding (3);	0.099663	0.64402	D	0.000001	T	0.81346	0.4803	M	0.76727	2.345	0.80722	D	1	P;B;B	0.39216	0.664;0.245;0.149	B;B;B	0.43360	0.417;0.088;0.16	D	0.83414	0.0029	10	0.72032	D	0.01	.	15.0338	0.71728	0.0:0.0:0.0:1.0	.	177;193;193	B7Z4E9;P23416;P23416-2	.;GLRA2_HUMAN;.	I	104;193;193;177	ENSP00000387756:F104I;ENSP00000218075:F193I;ENSP00000347123:F193I;ENSP00000391606:F177I	ENSP00000218075:F193I	F	+	1	0	GLRA2	14532440	1.000000	0.71417	0.987000	0.45799	0.941000	0.58515	7.851000	0.86920	1.933000	0.56026	0.430000	0.28490	TTT		0.418	GLRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055829.1		Missense_Mutation	34	20	0	0	0	0.005524	0	34	20				
ZNF645	158506	broad.mit.edu	37	X	22291500	22291500	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:22291500A>T	ENST00000323684.1	+	1	436	c.392A>T	c.(391-393)cAg>cTg	p.Q131L		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	131	HYB domain.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						AAAAGCTTACAGGCTCATATC	0.443																																							uc004dai.1		NA																	0				lung(1)|pancreas(1)	2						c.(391-393)CAG>CTG		zinc finger protein 645							65.0	58.0	60.0					X																	22291500		2203	4300	6503	SO:0001583	missense	158506					intracellular	zinc ion binding	g.chrX:22291500A>T	AK098601	CCDS14205.1	Xp22.11	2014-01-21			ENSG00000175809	ENSG00000175809			26371	protein-coding gene	gene with protein product							Standard	NM_152577		Approved	FLJ25735, HAKAIL, CT138	uc004dai.2	Q8N7E2	OTTHUMG00000021242	ENST00000323684.1:c.392A>T	X.37:g.22291500A>T	ENSP00000323348:p.Gln131Leu						p.Q131L	NM_152577	NP_689790	Q8N7E2	ZN645_HUMAN			1	441	+			131			C2H2-type.		A0AV29|A0AV31|E3SBK4|Q6DJY9	Missense_Mutation	SNP	ENST00000323684.1	37	c.392A>T	CCDS14205.1	.	.	.	.	.	.	.	.	.	.	A	13.99	2.402942	0.42613	.	.	ENSG00000175809	ENST00000323684	T	0.39229	1.09	3.62	3.62	0.41486	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.139223	0.49916	U	0.000138	T	0.55337	0.1914	M	0.67700	2.07	0.35803	D	0.823263	D	0.62365	0.991	P	0.61070	0.883	T	0.67730	-0.5595	10	0.87932	D	0	.	9.7921	0.40713	1.0:0.0:0.0:0.0	.	131	Q8N7E2	ZN645_HUMAN	L	131	ENSP00000323348:Q131L	ENSP00000323348:Q131L	Q	+	2	0	ZNF645	22201421	0.908000	0.30866	0.001000	0.08648	0.035000	0.12851	2.605000	0.46283	1.668000	0.50843	0.430000	0.28490	CAG		0.443	ZNF645-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056037.1	NM_152577		15	14	0	0	0	0.00499	0	15	14				
MAGEB6	158809	broad.mit.edu	37	X	26212975	26212975	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:26212975C>A	ENST00000379034.1	+	2	1161	c.1012C>A	c.(1012-1014)Caa>Aaa	p.Q338K		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	338	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						AGATTTGGTGCAAGATAAGTA	0.498																																							uc004dbr.2		NA																	0				ovary(3)	3						c.(1012-1014)CAA>AAA		melanoma antigen family B, 6							123.0	120.0	121.0					X																	26212975		2201	4281	6482	SO:0001583	missense	158809							g.chrX:26212975C>A	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.1012C>A	X.37:g.26212975C>A	ENSP00000368320:p.Gln338Lys					MAGEB6_uc010ngc.1_Missense_Mutation_p.Q118K	p.Q338K	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN			2	1161	+			338			MAGE.		Q6GS19|Q9H219	Missense_Mutation	SNP	ENST00000379034.1	37	c.1012C>A	CCDS14217.1	.	.	.	.	.	.	.	.	.	.	C	7.044	0.563163	0.13498	.	.	ENSG00000176746	ENST00000379034	T	0.03386	3.95	3.29	-2.23	0.06930	.	0.444463	0.20109	U	0.099051	T	0.02767	0.0083	L	0.46741	1.465	0.09310	N	1	B	0.34103	0.437	B	0.35039	0.194	T	0.40232	-0.9574	10	0.25106	T	0.35	.	1.6169	0.02705	0.321:0.2316:0.3304:0.117	.	338	Q8N7X4	MAGB6_HUMAN	K	338	ENSP00000368320:Q338K	ENSP00000368320:Q338K	Q	+	1	0	MAGEB6	26122896	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.524000	0.00948	-0.748000	0.04753	-0.237000	0.12165	CAA		0.498	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		37	30	1	0	9.72345e-25	0.00361	1.68517e-24	37	30				
FAM47A	158724	broad.mit.edu	37	X	34148498	34148498	+	Missense_Mutation	SNP	G	G	T	rs367549615		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:34148498G>T	ENST00000346193.3	-	1	1949	c.1898C>A	c.(1897-1899)cCc>cAc	p.P633H		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	633										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TCTGTACTTGGGGGTAAAGTC	0.443																																							uc004ddg.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(1897-1899)CCC>CAC		hypothetical protein LOC158724							88.0	83.0	85.0					X																	34148498		2113	4250	6363	SO:0001583	missense	158724							g.chrX:34148498G>T	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1898C>A	X.37:g.34148498G>T	ENSP00000345029:p.Pro633His						p.P633H	NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN			1	1931	-			633					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.1898C>A	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	g	1.447	-0.565951	0.03910	.	.	ENSG00000185448	ENST00000346193	T	0.71579	-0.58	1.16	-2.32	0.06745	.	.	.	.	.	T	0.50752	0.1634	L	0.44542	1.39	0.09310	N	1	B	0.24823	0.112	B	0.15052	0.012	T	0.30679	-0.9970	9	0.15499	T	0.54	.	2.0825	0.03638	0.2283:0.0:0.3092:0.4625	.	633	Q5JRC9	FA47A_HUMAN	H	633	ENSP00000345029:P633H	ENSP00000345029:P633H	P	-	2	0	FAM47A	34058419	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.436000	0.02421	-1.087000	0.03081	0.540000	0.68198	CCC		0.443	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		17	16	1	0	3.52763e-06	0.00499	4.24057e-06	17	16				
SYTL5	94122	broad.mit.edu	37	X	37965997	37965997	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:37965997G>T	ENST00000357972.5	+	11	1853	c.1307G>T	c.(1306-1308)gGa>gTa	p.G436V	TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Missense_Mutation_p.G436V|SYTL5_ENST00000456733.2_Missense_Mutation_p.G458V			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	436	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						CTGGCCATAGGAGATGAAAAG	0.408																																							uc004ddu.2		NA																	0				skin(1)	1						c.(1306-1308)GGA>GTA		synaptotagmin-like 5 isoform 1							124.0	100.0	108.0					X																	37965997		2202	4299	6501	SO:0001583	missense	94122				intracellular protein transport	membrane	metal ion binding|Rab GTPase binding	g.chrX:37965997G>T		CCDS14244.1, CCDS55399.1	Xp21.1	2008-02-05			ENSG00000147041	ENSG00000147041			15589	protein-coding gene	gene with protein product	"""exophilin 9"""						Standard	NM_138780		Approved		uc004ddx.3	Q8TDW5	OTTHUMG00000033176	ENST00000357972.5:c.1307G>T	X.37:g.37965997G>T	ENSP00000350657:p.Gly436Val					SYTL5_uc004ddv.2_Missense_Mutation_p.G436V|SYTL5_uc004ddx.2_Missense_Mutation_p.G458V	p.G436V	NM_001163335	NP_001156807	Q8TDW5	SYTL5_HUMAN			12	1841	+			436			C2 1.		A2RRF2	Missense_Mutation	SNP	ENST00000357972.5	37	c.1307G>T	CCDS14244.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.190077	0.38707	.	.	ENSG00000147041	ENST00000297875;ENST00000357972;ENST00000456733	T;T;T	0.68025	-0.3;-0.3;-0.3	5.71	4.84	0.62591	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.167096	0.52532	D	0.000079	T	0.38639	0.1048	N	0.03194	-0.395	0.80722	D	1	B;B	0.29378	0.243;0.191	B;B	0.28991	0.097;0.066	T	0.33369	-0.9871	10	0.25106	T	0.35	-18.2665	7.2304	0.26038	0.0:0.3958:0.3776:0.2267	.	458;436	A2RRF2;Q8TDW5	.;SYTL5_HUMAN	V	436;436;458	ENSP00000297875:G436V;ENSP00000350657:G436V;ENSP00000395220:G458V	ENSP00000297875:G436V	G	+	2	0	SYTL5	37850941	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.682000	0.54656	2.394000	0.81467	0.594000	0.82650	GGA		0.408	SYTL5-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080883.1	NM_138780		8	15	1	0	5.18039e-06	0.00308	6.18734e-06	8	15				
ZNF81	347344	broad.mit.edu	37	X	47775276	47775277	+	Missense_Mutation	DNP	GA	GA	TG			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	GA	GA	-	-	GA	GA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:47775276_47775277GA>TG	ENST00000376954.1	+	6	1599_1600	c.1231_1232GA>TG	c.(1231-1233)GAg>TGg	p.E411W	ZNF81_ENST00000338637.7_Missense_Mutation_p.E411W			P51508	ZNF81_HUMAN	zinc finger protein 81	411					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				TCACACTGGAGAGAGACATCAC	0.421																																							uc010nhy.1		NA																	0					0						c.(1231-1233)GAG>TGG		zinc finger protein 81																																				SO:0001583	missense	347344					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47775276_47775277GA>TG	AK126949	CCDS43933.1	Xp11.23	2013-01-08	2006-05-12		ENSG00000197779	ENSG00000197779		"""Zinc fingers, C2H2-type"", ""-"""	13156	protein-coding gene	gene with protein product		314998	"""zinc finger protein 81 (HFZ20)"", ""mental retardation, X-linked 45"""	MRX45		8507979, 15121780	Standard	NM_007137		Approved	HFZ20	uc022bvq.1	P51508	OTTHUMG00000021462	Exception_encountered	X.37:g.47775276_47775277delinsTG	ENSP00000366153:p.Glu411Trp						p.E411W	NM_007137	NP_009068	P51508	ZNF81_HUMAN			6	1599_1600	+		all_lung(315;0.0973)	411					Q6RX22|Q96QH6	Missense_Mutation	DNP	ENST00000376954.1	37	c.1231_1232GA>TG	CCDS43933.1																																																																																				0.421	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056455.2	NM_007137		10	8	0	0	0	0.004672	0	10	8				
CCNB3	85417	broad.mit.edu	37	X	50094343	50094343	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:50094343A>T	ENST00000376042.1	+	12	4362	c.4064A>T	c.(4063-4065)aAg>aTg	p.K1355M	CCNB3_ENST00000348603.2_Missense_Mutation_p.K251M|CCNB3_ENST00000376038.1_Missense_Mutation_p.K251M|CCNB3_ENST00000276014.7_Missense_Mutation_p.K1355M			Q8WWL7	CCNB3_HUMAN	cyclin B3	1355					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					GATAGTCTCAAGGCTGTGTAT	0.458																																							uc004dox.3		NA																	0				ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9						c.(4063-4065)AAG>ATG		cyclin B3 isoform 3							178.0	161.0	167.0					X																	50094343		2203	4300	6503	SO:0001583	missense	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50094343A>T	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.4064A>T	X.37:g.50094343A>T	ENSP00000365210:p.Lys1355Met					CCNB3_uc004doy.2_Missense_Mutation_p.K1355M|CCNB3_uc004doz.2_Missense_Mutation_p.K251M|CCNB3_uc010njq.2_Missense_Mutation_p.K247M|CCNB3_uc004dpa.2_Missense_Mutation_p.K194M	p.K1355M	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN			12	4362	+	Ovarian(276;0.236)		1355					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	ENST00000376042.1	37	c.4064A>T	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	A	8.521	0.868670	0.17322	.	.	ENSG00000147082	ENST00000376042;ENST00000376038;ENST00000348603;ENST00000276014	T;T;T;T	0.24538	1.85;1.85;1.85;1.85	5.08	1.38	0.22167	Cyclin, C-terminal (1);Cyclin-like (2);	0.461240	0.21586	U	0.072173	T	0.29288	0.0729	L	0.48218	1.51	0.39314	D	0.965131	P;P;P	0.40602	0.723;0.544;0.605	P;B;P	0.50231	0.466;0.439;0.635	T	0.04281	-1.0963	9	.	.	.	.	7.6542	0.28365	0.729:0.0:0.271:0.0	.	1355;251;1355	A8K8T9;Q8WWL7-2;Q8WWL7	.;.;CCNB3_HUMAN	M	1355;251;251;1355	ENSP00000365210:K1355M;ENSP00000365206:K251M;ENSP00000338682:K251M;ENSP00000276014:K1355M	.	K	+	2	0	CCNB3	50111083	1.000000	0.71417	0.005000	0.12908	0.021000	0.10359	1.704000	0.37857	0.221000	0.20879	0.430000	0.28490	AAG		0.458	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			58	48	0	0	0	0.00361	0	58	48				
SHROOM4	57477	broad.mit.edu	37	X	50377003	50377003	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:50377003C>T	ENST00000289292.7	-	4	2353	c.2070G>A	c.(2068-2070)agG>agA	p.R690R	SHROOM4_ENST00000376020.2_Silent_p.R690R|SHROOM4_ENST00000460112.3_Silent_p.R574R			Q9ULL8	SHRM4_HUMAN	shroom family member 4	690					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					ACTGGCCAGGCCTCTGGCCAG	0.582																																							uc004dpe.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(2068-2070)AGG>AGA		shroom family member 4							46.0	38.0	41.0					X																	50377003		2203	4300	6503	SO:0001819	synonymous_variant	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50377003C>T	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.2070G>A	X.37:g.50377003C>T						SHROOM4_uc004dpd.3_RNA|SHROOM4_uc004dpf.1_Silent_p.R574R	p.R690R	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN			4	2096	-	Ovarian(276;0.236)		690					A7E2X9|D6RFW0|Q96LA0	Silent	SNP	ENST00000289292.7	37	c.2070G>A	CCDS35277.1																																																																																				0.582	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		6	7	0	0	0	0.001168	0	6	7				
SMC1A	8243	broad.mit.edu	37	X	53439185	53439185	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:53439185C>T	ENST00000322213.4	-	6	1000	c.873G>A	c.(871-873)ttG>ttA	p.L291L	SMC1A_ENST00000375340.6_Intron	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	291					DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						GCTTCTGGTTCAATTCTGAGT	0.512																																							uc004dsg.2		NA																	0				ovary(5)|central_nervous_system(1)	6						c.(871-873)TTG>TTA		structural maintenance of chromosomes 1A							77.0	68.0	71.0					X																	53439185		2203	4300	6503	SO:0001819	synonymous_variant	8243				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity	g.chrX:53439185C>T	S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"""Structural maintenance of chromosomes proteins"""	11111	protein-coding gene	gene with protein product		300040	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"""	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.873G>A	X.37:g.53439185C>T						SMC1A_uc011moe.1_Silent_p.L269L|SMC1A_uc011mof.1_Intron	p.L291L	NM_006306	NP_006297	Q14683	SMC1A_HUMAN			6	942	-			291			Potential.		O14995|Q16351|Q2M228	Silent	SNP	ENST00000322213.4	37	c.873G>A	CCDS14352.1																																																																																				0.512	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306		6	11	0	0	0	0.00308	0	6	11				
ASB12	142689	broad.mit.edu	37	X	63444721	63444721	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:63444721C>T	ENST00000396130.2	-	1	782	c.783G>A	c.(781-783)ctG>ctA	p.L261L	ASB12_ENST00000362002.2_Silent_p.L270L|MTMR8_ENST00000453546.1_Silent_p.L645L			Q8WXK4	ASB12_HUMAN	ankyrin repeat and SOCS box containing 12	261					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.0?(2)		endometrium(2)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						GGGCCTGTAGCAGCAATGCAA	0.502																																							uc011mou.1		NA																	2	Whole gene deletion(2)		ovary(1)|large_intestine(1)	ovary(2)|breast(2)	4						c.(1933-1935)CTG>CTA		myotubularin related protein 8							58.0	46.0	50.0					X																	63444721		2203	4300	6503	SO:0001819	synonymous_variant	55613					nuclear envelope	protein tyrosine phosphatase activity	g.chrX:63444721C>T	AF403030	CCDS14378.1, CCDS14378.2	Xq11.1	2013-01-10	2011-01-25		ENSG00000198881	ENSG00000198881		"""Ankyrin repeat domain containing"""	19763	protein-coding gene	gene with protein product		300891	"""ankyrin repeat and SOCS box-containing 12"""			12076535	Standard	NM_130388		Approved	FLJ39577		Q8WXK4	OTTHUMG00000021705	ENST00000396130.2:c.783G>A	X.37:g.63444721C>T						ASB12_uc004dvp.1_Silent_p.L261L|ASB12_uc004dvq.1_Silent_p.L270L|ASB12_uc004dvr.1_Silent_p.L270L	p.L645L	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN			10	2003	-			Error:Variant_position_missing_in_Q96EF0_after_alignment					J3KP57|Q2M3D5|Q52LK4|Q6ISF9|Q8N8F5	Silent	SNP	ENST00000396130.2	37	c.1935G>A																																																																																					0.502	ASB12-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				13	12	0	0	0	0.008871	0	13	12				
ZC3H12B	340554	broad.mit.edu	37	X	64709138	64709138	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:64709138G>A	ENST00000338957.4	+	1	524	c.457G>A	c.(457-459)Gat>Aat	p.D153N	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.D142N	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	153							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAACAAAGGTGATTCAGAAGG	0.448																																							uc010nko.2		NA																	0				lung(1)|kidney(1)|pancreas(1)	3						c.(424-426)GAT>AAT		zinc finger CCCH-type containing 12B							86.0	83.0	84.0					X																	64709138		1937	4132	6069	SO:0001583	missense	340554						endonuclease activity|nucleic acid binding|zinc ion binding	g.chrX:64709138G>A	BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"""Zinc fingers, CCCH-type domain containing"""	17407	protein-coding gene	gene with protein product	"""MCP induced protein 2"""	300889	"""chromosome X open reading frame 32"""	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.457G>A	X.37:g.64709138G>A	ENSP00000340839:p.Asp153Asn						p.D142N	NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN			1	433	+			142					B2RTQ3|E9PAJ6|Q5H9C0	Missense_Mutation	SNP	ENST00000338957.4	37	c.424G>A	CCDS48131.2	.	.	.	.	.	.	.	.	.	.	G	17.89	3.499410	0.64298	.	.	ENSG00000102053	ENST00000338957;ENST00000423889	T;T	0.23147	1.92;1.92	5.15	5.15	0.70609	.	.	.	.	.	T	0.26629	0.0651	L	0.46157	1.445	0.48288	D	0.999626	P	0.46395	0.877	B	0.40329	0.326	T	0.05869	-1.0859	9	0.66056	D	0.02	-6.0788	16.1674	0.81777	0.0:0.0:1.0:0.0	.	142	Q5HYM0	ZC12B_HUMAN	N	153;142	ENSP00000340839:D153N;ENSP00000408077:D142N	ENSP00000340839:D153N	D	+	1	0	ZC3H12B	64625863	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	9.134000	0.94467	2.388000	0.81334	0.506000	0.49869	GAT		0.448	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378734.2	XM_293334		23	18	0	0	0	0.004656	0	23	18				
SLC7A3	84889	broad.mit.edu	37	X	70148374	70148374	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:70148374G>T	ENST00000374299.3	-	4	783	c.639C>A	c.(637-639)gaC>gaA	p.D213E	SLC7A3_ENST00000298085.4_Missense_Mutation_p.D213E			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	213					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)|L-lysine transmembrane transporter activity (GO:0015189)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AGTTGTGCACGTCCCCCTTAA	0.517																																							uc004dyn.2		NA																	0				ovary(1)|kidney(1)	2						c.(637-639)GAC>GAA		solute carrier family 7 (cationic amino acid	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						70.0	49.0	56.0					X																	70148374		2203	4299	6502	SO:0001583	missense	84889				cellular nitrogen compound metabolic process	integral to membrane|plasma membrane		g.chrX:70148374G>T	AF320612	CCDS14404.1	Xq12	2013-05-22			ENSG00000165349	ENSG00000165349		"""Solute carriers"""	11061	protein-coding gene	gene with protein product		300443				11591158	Standard	NM_001048164		Approved	CAT-3, ATRC3, FLJ14541	uc004dyn.3	Q8WY07	OTTHUMG00000021780	ENST00000374299.3:c.639C>A	X.37:g.70148374G>T	ENSP00000363417:p.Asp213Glu					SLC7A3_uc004dyo.2_Missense_Mutation_p.D213E	p.D213E	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN			4	797	-	Renal(35;0.156)		213			Extracellular (Potential).		D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7	Missense_Mutation	SNP	ENST00000374299.3	37	c.639C>A	CCDS14404.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.335330	0.60853	.	.	ENSG00000165349	ENST00000374299;ENST00000298085	D;D	0.90133	-2.62;-2.62	4.95	-6.3	0.02007	Amino acid permease domain (1);	0.534112	0.22480	N	0.059504	D	0.89866	0.6839	M	0.88241	2.94	0.09310	N	1	B	0.30727	0.292	B	0.42319	0.383	T	0.81178	-0.1051	10	0.54805	T	0.06	.	2.496	0.04621	0.3953:0.2937:0.21:0.101	.	213	Q8WY07	CTR3_HUMAN	E	213	ENSP00000363417:D213E;ENSP00000298085:D213E	ENSP00000298085:D213E	D	-	3	2	SLC7A3	70065099	0.000000	0.05858	0.000000	0.03702	0.924000	0.55760	-0.523000	0.06230	-2.234000	0.00715	0.436000	0.28706	GAC		0.517	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057080.1	NM_032803		6	2	1	0	8.12818e-05	0.001984	9.21236e-05	6	2				
MED12	9968	broad.mit.edu	37	X	70343028	70343028	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:70343028G>T	ENST00000374080.3	+	11	1601	c.1569G>T	c.(1567-1569)atG>atT	p.M523I	MED12_ENST00000374102.1_Missense_Mutation_p.M523I|MED12_ENST00000333646.6_Missense_Mutation_p.M523I			Q93074	MED12_HUMAN	mediator complex subunit 12	523					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					ATCGTGCTATGGTGGTAGCCA	0.502			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																																uc004dyy.2		NA		Dom	yes		X	Xq13	9968		mediator complex subunit 12	Yes		M					0				ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(1567-1569)ATG>ATT		mediator complex subunit 12							121.0	108.0	112.0					X																	70343028		2096	4216	6312	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70343028G>T	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.1569G>T	X.37:g.70343028G>T	ENSP00000363193:p.Met523Ile					MED12_uc011mpq.1_Missense_Mutation_p.M523I|MED12_uc004dyz.2_Missense_Mutation_p.M523I|MED12_uc004dza.2_Missense_Mutation_p.M370I	p.M523I	NM_005120	NP_005111	Q93074	MED12_HUMAN			11	1768	+	Renal(35;0.156)		523					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.1569G>T	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	16.95	3.263884	0.59431	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.35789	1.29;1.29;1.29;1.29	4.46	4.46	0.54185	Mediator complex, subunit Med12, LCEWAV-domain (1);	0.000000	0.85682	D	0.000000	T	0.41581	0.1165	L	0.53561	1.675	0.80722	D	1	B;P;P;B	0.38129	0.003;0.514;0.619;0.025	B;B;B;B	0.43052	0.007;0.216;0.406;0.05	T	0.33548	-0.9864	10	0.38643	T	0.18	-15.7156	16.4447	0.83919	0.0:0.0:1.0:0.0	.	523;370;523;523	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	I	523;523;523;523;491	ENSP00000333125:M523I;ENSP00000363215:M523I;ENSP00000363193:M523I;ENSP00000414203:M491I	ENSP00000333125:M523I	M	+	3	0	MED12	70259753	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.983000	0.93477	2.050000	0.60909	0.509000	0.49947	ATG		0.502	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		24	13	1	0	3.28513e-13	0.003954	4.90953e-13	24	13				
MED12	9968	broad.mit.edu	37	X	70345907	70345907	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:70345907G>T	ENST00000374080.3	+	18	2476	c.2444G>T	c.(2443-2445)cGg>cTg	p.R815L	MED12_ENST00000374102.1_Missense_Mutation_p.R815L|MED12_ENST00000333646.6_Missense_Mutation_p.R815L			Q93074	MED12_HUMAN	mediator complex subunit 12	815					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GGGCAGAAGCGGCGACGCAAC	0.552			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																																uc004dyy.2		NA		Dom	yes		X	Xq13	9968		mediator complex subunit 12	Yes		M					0				ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(2443-2445)CGG>CTG		mediator complex subunit 12							132.0	122.0	125.0					X																	70345907		1971	4131	6102	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70345907G>T	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.2444G>T	X.37:g.70345907G>T	ENSP00000363193:p.Arg815Leu					MED12_uc011mpq.1_Missense_Mutation_p.R815L|MED12_uc004dyz.2_Missense_Mutation_p.R815L|MED12_uc004dza.2_Missense_Mutation_p.R662L	p.R815L	NM_005120	NP_005111	Q93074	MED12_HUMAN			18	2643	+	Renal(35;0.156)		815					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.2444G>T	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	18.72	3.683724	0.68157	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.79890	0.4524	L	0.36672	1.1	0.80722	D	1	B;P;B;P	0.42518	0.445;0.782;0.291;0.683	B;B;B;B	0.43082	0.242;0.164;0.191;0.407	T	0.83076	-0.0140	10	0.66056	D	0.02	-21.6228	16.8049	0.85623	0.0:0.0:1.0:0.0	.	815;662;815;815	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	L	815;815;815;815;783	ENSP00000333125:R815L;ENSP00000363215:R815L;ENSP00000363193:R815L;ENSP00000414203:R783L	ENSP00000333125:R815L	R	+	2	0	MED12	70262632	1.000000	0.71417	0.944000	0.38274	0.970000	0.65996	8.986000	0.93492	2.142000	0.66516	0.462000	0.41574	CGG		0.552	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		52	40	1	0	3.28156e-27	0.00361	5.7816e-27	52	40				
CYSLTR1	10800	broad.mit.edu	37	X	77528533	77528533	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:77528533G>A	ENST00000373304.3	-	3	1003	c.711C>T	c.(709-711)gtC>gtT	p.V237V		NM_001282187.1|NM_001282188.1|NM_006639.3	NP_001269116.1|NP_001269117.1|NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	237					defense response (GO:0006952)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|respiratory gaseous exchange (GO:0007585)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	leukotriene receptor activity (GO:0004974)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	CAGCGGTCACGACCATGATCA	0.333																																							uc004edb.2		NA																	0				ovary(1)	1						c.(709-711)GTC>GTT		cysteinyl leukotriene receptor 1	Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)						98.0	88.0	92.0					X																	77528533		2202	4300	6502	SO:0001819	synonymous_variant	10800				elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity	g.chrX:77528533G>A	AF119711	CCDS14439.1	Xq13-q21	2012-08-10			ENSG00000173198	ENSG00000173198		"""GPCR / Class A : Leukotriene receptors"""	17451	protein-coding gene	gene with protein product		300201				10391245, 10462554	Standard	NM_006639		Approved	CysLT1, CysLT(1), CYSLT1R	uc004edb.3	Q9Y271	OTTHUMG00000021889	ENST00000373304.3:c.711C>T	X.37:g.77528533G>A						CYSLTR1_uc010nma.2_Silent_p.V237V|CYSLTR1_uc010nmb.2_Silent_p.V237V	p.V237V	NM_006639	NP_006630	Q9Y271	CLTR1_HUMAN			3	1111	-			237			Helical; Name=6; (Potential).		B2R954|D3DTE4|Q5JS94|Q8IV19	Silent	SNP	ENST00000373304.3	37	c.711C>T	CCDS14439.1																																																																																				0.333	CYSLTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057315.1			16	11	0	0	0	0.00499	0	16	11				
DACH2	117154	broad.mit.edu	37	X	86067905	86067905	+	Silent	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:86067905G>A	ENST00000373125.4	+	8	1287	c.1287G>A	c.(1285-1287)aaG>aaA	p.K429K	DACH2_ENST00000508860.1_Silent_p.K262K|DACH2_ENST00000373131.1_Silent_p.K416K|DACH2_ENST00000510272.1_Silent_p.K210K	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	429					development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						CCTTGGACAAGATACAGCTGA	0.443																																							uc004eew.2		NA																	0				ovary(4)|pancreas(1)	5						c.(1285-1287)AAG>AAA		dachshund 2 isoform a							71.0	64.0	66.0					X																	86067905		2203	4300	6503	SO:0001819	synonymous_variant	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:86067905G>A	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.1287G>A	X.37:g.86067905G>A						DACH2_uc004eex.2_Silent_p.K416K|DACH2_uc010nmq.2_Silent_p.K295K|DACH2_uc011mra.1_Silent_p.K262K|DACH2_uc010nmr.2_Silent_p.K210K|DACH2_uc004eey.2_Silent_p.K112K|DACH2_uc004eez.2_Silent_p.K112K	p.K429K	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN			8	1457	+			429					B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Silent	SNP	ENST00000373125.4	37	c.1287G>A	CCDS14455.1																																																																																				0.443	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		18	6	0	0	0	0.001882	0	18	6				
SYTL4	94121	broad.mit.edu	37	X	99955908	99955908	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:99955908C>A	ENST00000372989.1	-	7	855	c.524G>T	c.(523-525)cGg>cTg	p.R175L	SYTL4_ENST00000263033.5_Missense_Mutation_p.R175L|SYTL4_ENST00000454200.2_Missense_Mutation_p.R175L|SYTL4_ENST00000372981.1_Missense_Mutation_p.R175L|SYTL4_ENST00000276141.6_Missense_Mutation_p.R175L|SYTL4_ENST00000455616.1_Missense_Mutation_p.R175L	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	175					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|multivesicular body sorting pathway (GO:0071985)|negative regulation of insulin secretion (GO:0046676)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	neurexin family protein binding (GO:0042043)|phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CTCCTTCTGCCGCTCCTGAAT	0.388																																							uc004egd.3		NA																	0				ovary(2)	2						c.(523-525)CGG>CTG		synaptotagmin-like 4	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						127.0	114.0	119.0					X																	99955908		2203	4300	6503	SO:0001583	missense	94121				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding	g.chrX:99955908C>A		CCDS14472.1	Xq21.33	2008-07-31	2008-07-31		ENSG00000102362	ENSG00000102362			15588	protein-coding gene	gene with protein product	"""granuphilin-a"", ""exophilin-2"""	300723					Standard	NM_080737		Approved		uc010nnc.3	Q96C24	OTTHUMG00000022004	ENST00000372989.1:c.524G>T	X.37:g.99955908C>A	ENSP00000362080:p.Arg175Leu					SYTL4_uc010nnc.2_Missense_Mutation_p.R175L|SYTL4_uc004ege.3_Missense_Mutation_p.R175L|SYTL4_uc004egf.3_Missense_Mutation_p.R175L|SYTL4_uc004egg.3_Missense_Mutation_p.R175L	p.R175L	NM_080737	NP_542775	Q96C24	SYTL4_HUMAN			7	880	-			175					Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	Missense_Mutation	SNP	ENST00000372989.1	37	c.524G>T	CCDS14472.1	.	.	.	.	.	.	.	.	.	.	c	0.173	-1.069162	0.01918	.	.	ENSG00000102362	ENST00000372989;ENST00000455616;ENST00000454200;ENST00000276141;ENST00000263033;ENST00000372981	T;T;T;T;T;T	0.63913	2.06;2.06;2.05;2.06;2.06;-0.07	5.78	-1.78	0.07957	.	0.462954	0.25708	N	0.028821	T	0.34135	0.0887	N	0.14661	0.345	0.19575	N	0.999962	B;B	0.33777	0.425;0.072	B;B	0.31547	0.132;0.017	T	0.24941	-1.0146	9	.	.	.	-6.1752	6.5719	0.22543	0.0:0.4273:0.2342:0.3385	.	175;175	Q96C24-2;Q96C24	.;SYTL4_HUMAN	L	175	ENSP00000362080:R175L;ENSP00000390252:R175L;ENSP00000403556:R175L;ENSP00000276141:R175L;ENSP00000263033:R175L;ENSP00000362072:R175L	.	R	-	2	0	SYTL4	99842564	0.890000	0.30428	0.140000	0.22221	0.001000	0.01503	0.448000	0.21726	-0.027000	0.13873	-1.366000	0.01203	CGG		0.388	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057488.1	NM_080737		20	23	1	0	6.32553e-13	0.004656	9.41548e-13	20	23				
XKRX	402415	broad.mit.edu	37	X	100178007	100178007	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:100178007C>G	ENST00000372956.2	-	2	983	c.379G>C	c.(379-381)Gag>Cag	p.E127Q	XKRX_ENST00000328526.5_Missense_Mutation_p.E140Q|XKRX_ENST00000468904.1_Intron			Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	127						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						TCCTGCTCCTCTTTCTTCCAC	0.507																																							uc004egn.2		NA																	0				breast(1)	1						c.(379-381)GAG>CAG		XK, Kell blood group complex subunit-related,							144.0	127.0	133.0					X																	100178007		2203	4300	6503	SO:0001583	missense	402415					integral to membrane|plasma membrane		g.chrX:100178007C>G	AY589511	CCDS14476.1, CCDS14476.2	Xq22	2008-02-05	2006-01-12		ENSG00000182489	ENSG00000182489			29845	protein-coding gene	gene with protein product		300684	"""X Kell blood group precursor-related, X-linked"""				Standard	NM_212559		Approved	XPLAC, XKR2	uc004egn.2	Q6PP77	OTTHUMG00000022010	ENST00000372956.2:c.379G>C	X.37:g.100178007C>G	ENSP00000362047:p.Glu127Gln					XKRX_uc011mre.1_Intron	p.E127Q	NM_212559	NP_997724	Q6PP77	XKR2_HUMAN			2	984	-			127					B2RNN6|B4DKU2|Q5H9J6	Missense_Mutation	SNP	ENST00000372956.2	37	c.379G>C	CCDS14476.2	.	.	.	.	.	.	.	.	.	.	C	12.13	1.845433	0.32606	.	.	ENSG00000182489	ENST00000328526;ENST00000372956	T;T	0.63417	-0.04;-0.04	5.73	4.84	0.62591	.	0.217647	0.47852	D	0.000207	T	0.45196	0.1330	N	0.08118	0	0.38830	D	0.955831	P	0.42203	0.773	P	0.44623	0.455	T	0.43572	-0.9383	10	0.14656	T	0.56	-4.4939	14.2398	0.65950	0.1489:0.8511:0.0:0.0	.	127	Q6PP77	XKR2_HUMAN	Q	140;127	ENSP00000327570:E140Q;ENSP00000362047:E127Q	ENSP00000327570:E140Q	E	-	1	0	XKRX	100064663	0.963000	0.33076	1.000000	0.80357	0.997000	0.91878	5.653000	0.67967	2.417000	0.82017	0.544000	0.68410	GAG		0.507	XKRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057501.3	NM_212559		17	23	0	0	0	0.010504	0	17	23				
BTK	695	broad.mit.edu	37	X	100615557	100615557	+	Splice_Site	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:100615557C>A	ENST00000308731.7	-	8	938	c.775G>T	c.(775-777)Ggg>Tgg	p.G259W	BTK_ENST00000372880.1_Splice_Site_p.G259W	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	259	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TGGACTCACCCATTTTTATCT	0.498									Agammaglobulinemia, X-linked																														uc004ehg.2		NA																	0				lung(3)|central_nervous_system(2)|ovary(1)	6						c.(775-777)GGG>TGG		Bruton agammaglobulinemia tyrosine kinase							132.0	111.0	118.0					X																	100615557		2203	4300	6503	SO:0001630	splice_region_variant	695	Agammaglobulinemia_X-linked	Familial Cancer Database	Bruton Type Agammaglobulinemia	calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	g.chrX:100615557C>A	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.776+1G>T	X.37:g.100615557C>A						BTK_uc004ehf.2_5'Flank|BTK_uc010nnh.2_5'Flank|BTK_uc010nni.2_5'Flank|BTK_uc004ehe.2_5'Flank|BTK_uc010nnj.2_5'Flank|BTK_uc010nnk.2_5'Flank|BTK_uc010nnl.2_5'Flank|BTK_uc010nnm.2_5'Flank|BTK_uc010nnn.2_Missense_Mutation_p.G259W|BTK_uc010nno.2_Missense_Mutation_p.G293W|BTK_uc004ehh.1_5'Flank|BTK_uc004ehi.2_Missense_Mutation_p.G259W	p.G259W	NM_000061	NP_000052	Q06187	BTK_HUMAN			8	968	-			259			SH3.		B2RAW1|Q32ML5	Missense_Mutation	SNP	ENST00000308731.7	37	c.775G>T	CCDS14482.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.772521	0.90108	.	.	ENSG00000010671	ENST00000372880;ENST00000308731	T;T	0.45276	0.9;0.9	5.98	5.98	0.97165	Src homology-3 domain (3);	0.000000	0.85682	D	0.000000	T	0.79953	0.4535	H	0.98594	4.275	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.996	D	0.87731	0.2579	10	0.87932	D	0	.	18.9869	0.92775	0.0:1.0:0.0:0.0	.	259;259;259	Q5JY90;B2RAW1;Q06187	.;.;BTK_HUMAN	W	259	ENSP00000361971:G259W;ENSP00000308176:G259W	ENSP00000308176:G259W	G	-	1	0	BTK	100502213	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.200000	0.77838	2.532000	0.85374	0.594000	0.82650	GGG		0.498	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	NM_000061	Missense_Mutation	15	15	1	0	1.33834e-09	0.007413	1.82244e-09	15	15				
SLC25A53	401612	broad.mit.edu	37	X	103349077	103349077	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:103349077C>A	ENST00000357421.4	-	2	1044	c.864G>T	c.(862-864)acG>acT	p.T288T		NM_001012755.3	NP_001012773.2	Q5H9E4	S2553_HUMAN	solute carrier family 25, member 53	288					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)											CATGGATTGCCGTAGTGAGGC	0.532																																							uc004elu.2		NA																	0					0						c.(862-864)ACG>ACT		mitochondrial carrier triple repeat 6							54.0	46.0	49.0					X																	103349077		2203	4299	6502	SO:0001819	synonymous_variant	401612				transport	integral to membrane|mitochondrial inner membrane		g.chrX:103349077C>A		CCDS35363.1	Xq22.2	2013-05-22	2012-03-29	2012-03-29	ENSG00000176274	ENSG00000269743		"""Solute carriers"""	31894	protein-coding gene	gene with protein product			"""mitochondrial carrier triple repeat 6"""	MCART6			Standard	NM_001012755		Approved		uc004elu.3	Q5H9E4	OTTHUMG00000022124	ENST00000357421.4:c.864G>T	X.37:g.103349077C>A							p.T288T	NM_001012755	NP_001012773	Q5H9E4	MCAR6_HUMAN			2	1045	-			288			Solcar 3.|Helical; Name=6; (Potential).		B2RTT9	Silent	SNP	ENST00000357421.4	37	c.864G>T	CCDS35363.1																																																																																				0.532	SLC25A53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057761.1	NM_001012755		4	12	1	0	0.000602214	0.000602	0.00065942	4	12				
SERPINA7	6906	broad.mit.edu	37	X	105280605	105280605	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:105280605C>G	ENST00000327674.4	-	1	780	c.445G>C	c.(445-447)Gat>Cat	p.D149H	SERPINA7_ENST00000487487.1_5'Flank|SERPINA7_ENST00000372563.1_Missense_Mutation_p.D149H			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	149					aging (GO:0007568)|negative regulation of endopeptidase activity (GO:0010951)|post-embryonic development (GO:0009791)|regulation of proteolysis (GO:0030162)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to peptide hormone (GO:0043434)|response to prostaglandin E (GO:0034695)|response to vitamin A (GO:0033189)|thyroid hormone transport (GO:0070327)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone binding (GO:0042562)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	GTCTTGACATCATTCAAGAAC	0.428																																							uc004eme.1		NA																	0					0						c.(445-447)GAT>CAT		serine (or cysteine) proteinase inhibitor, clade	Levothyroxine(DB00451)|Liothyronine(DB00279)						169.0	162.0	164.0					X																	105280605		2203	4300	6503	SO:0001583	missense	6906				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chrX:105280605C>G	M14091	CCDS14518.1	Xq21-q22	2014-02-18	2005-08-18		ENSG00000123561	ENSG00000123561		"""Serine (or cysteine) peptidase inhibitors"""	11583	protein-coding gene	gene with protein product	"""thyroxin-binding globulin"", ""thyroxine-binding globulin"", ""alpha-1 antiproteinase, antitrypsin"""	314200	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7"""	TBG		24172014	Standard	NM_000354		Approved		uc004eme.2	P05543	OTTHUMG00000022144	ENST00000327674.4:c.445G>C	X.37:g.105280605C>G	ENSP00000329374:p.Asp149His					SERPINA7_uc010npd.2_Missense_Mutation_p.D149H|SERPINA7_uc010npe.1_Missense_Mutation_p.D149H	p.D149H	NM_000354	NP_000345	P05543	THBG_HUMAN			1	461	-			149					D3DUX1	Missense_Mutation	SNP	ENST00000327674.4	37	c.445G>C	CCDS14518.1	.	.	.	.	.	.	.	.	.	.	C	10.63	1.404640	0.25378	.	.	ENSG00000123561	ENST00000327674;ENST00000372563	D;D	0.84730	-1.89;-1.89	4.7	1.87	0.25490	Serpin domain (3);	0.302431	0.31859	N	0.006948	D	0.91023	0.7176	M	0.87097	2.86	0.34627	D	0.71923	D	0.62365	0.991	P	0.61070	0.883	D	0.92951	0.6380	10	0.72032	D	0.01	.	11.4403	0.50092	0.4349:0.5651:0.0:0.0	.	149	P05543	THBG_HUMAN	H	149	ENSP00000329374:D149H;ENSP00000361644:D149H	ENSP00000329374:D149H	D	-	1	0	SERPINA7	105167261	0.994000	0.37717	0.871000	0.34182	0.028000	0.11728	5.487000	0.66863	0.141000	0.18875	0.594000	0.82650	GAT		0.428	SERPINA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057790.1	NM_000354		22	38	0	0	0	0.003954	0	22	38				
ALG13	79868	broad.mit.edu	37	X	110970074	110970074	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:110970074G>T	ENST00000394780.3	+	16	1779	c.1767G>T	c.(1765-1767)atG>atT	p.M589I	ALG13_ENST00000251943.4_Missense_Mutation_p.M485I	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	589					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						AGAAGAAGATGTTCAAGAAAA	0.443																																							uc011msy.1		NA																	0				lung(1)	1						c.(1765-1767)ATG>ATT		SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae);							162.0	141.0	147.0					X																	110970074		1568	3582	5150	SO:0001583	missense	79868				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	g.chrX:110970074G>T	AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"""Tudor domain containing"", ""OTU domain containing"""	30881	protein-coding gene	gene with protein product	"""tudor domain containing 13"", ""N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"""	300776	"""glycosyltransferase 28 domain containing 1"", ""chromosome X open reading frame 45"", ""asparagine-linked glycosylation 13 homolog (S. cerevisiae)"""	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.1767G>T	X.37:g.110970074G>T	ENSP00000378260:p.Met589Ile					ALG13_uc011msx.1_Missense_Mutation_p.M485I|ALG13_uc011msz.1_Missense_Mutation_p.M511I|ALG13_uc011mta.1_Missense_Mutation_p.M485I|ALG13_uc011mtb.1_Missense_Mutation_p.M485I	p.M589I			Q9NP73	ALG13_HUMAN			16	1801	+			589					B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Missense_Mutation	SNP	ENST00000394780.3	37	c.1767G>T	CCDS55477.1	.	.	.	.	.	.	.	.	.	.	G	8.749	0.920830	0.17982	.	.	ENSG00000101901	ENST00000251943;ENST00000394780;ENST00000436609	T;T	0.55234	1.53;0.53	5.79	0.657	0.17850	.	0.672145	0.12627	U	0.452544	T	0.36110	0.0955	L	0.43152	1.355	0.20873	N	0.999834	B;B;B	0.17667	0.002;0.001;0.023	B;B;B	0.15052	0.002;0.001;0.012	T	0.23655	-1.0182	10	0.23302	T	0.38	0.018	2.1177	0.03718	0.2162:0.2326:0.4294:0.1218	.	511;589;485	Q9NP73-3;Q9NP73;Q9NP73-4	.;ALG13_HUMAN;.	I	485;589;222	ENSP00000251943:M485I;ENSP00000378260:M589I	ENSP00000251943:M485I	M	+	3	0	ALG13	110856730	1.000000	0.71417	0.990000	0.47175	0.912000	0.54170	1.369000	0.34227	-0.331000	0.08501	0.600000	0.82982	ATG		0.443	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	NM_018466		14	28	1	0	0.00498961	0.00499	0.00526582	14	28				
TRPC5	7224	broad.mit.edu	37	X	111195569	111195569	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:111195569G>C	ENST00000262839.2	-	2	998	c.80C>G	c.(79-81)aCa>aGa	p.T27R		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	27					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AGAGAGCTCTGTCTCAGCCCT	0.507																																							uc004epl.1		NA																	0				urinary_tract(1)	1						c.(79-81)ACA>AGA		transient receptor potential cation channel,							91.0	73.0	79.0					X																	111195569		2203	4300	6503	SO:0001583	missense	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111195569G>C	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.80C>G	X.37:g.111195569G>C	ENSP00000262839:p.Thr27Arg					TRPC5_uc004epm.1_Missense_Mutation_p.T27R	p.T27R	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN			2	999	-			27			Cytoplasmic (Potential).		B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	ENST00000262839.2	37	c.80C>G	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.829919	0.32329	.	.	ENSG00000072315	ENST00000262839	T	0.69435	-0.4	5.57	5.57	0.84162	.	0.158126	0.56097	D	0.000031	T	0.48484	0.1502	N	0.08118	0	0.32370	N	0.555991	B;B	0.27823	0.084;0.19	B;B	0.24394	0.032;0.053	T	0.52881	-0.8516	10	0.26408	T	0.33	2.1998	18.5916	0.91215	0.0:0.0:1.0:0.0	.	28;27	Q59G51;Q9UL62	.;TRPC5_HUMAN	R	27	ENSP00000262839:T27R	ENSP00000262839:T27R	T	-	2	0	TRPC5	111082225	1.000000	0.71417	0.977000	0.42913	0.737000	0.42083	5.725000	0.68507	2.333000	0.79357	0.600000	0.82982	ACA		0.507	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		11	15	0	0	0	0.001368	0	11	15				
HTR2C	3358	broad.mit.edu	37	X	114141351	114141351	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:114141351C>A	ENST00000276198.1	+	6	1478	c.750C>A	c.(748-750)caC>caA	p.H250Q	HTR2C_ENST00000371950.3_Silent_p.R219R|HTR2C_ENST00000371951.1_Missense_Mutation_p.H250Q	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	250					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TGTTACTGCACGGCCACACCG	0.512																																							uc004epu.1		NA																	0				ovary(3)	3						c.(748-750)CAC>CAA		5-hydroxytryptamine (serotonin) receptor 2C	Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)						264.0	238.0	247.0					X																	114141351		2203	4300	6503	SO:0001583	missense	3358				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	g.chrX:114141351C>A		CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5295	protein-coding gene	gene with protein product		312861	"""5-hydroxytryptamine (serotonin) receptor 2C"""	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.750C>A	X.37:g.114141351C>A	ENSP00000276198:p.His250Gln					HTR2C_uc010nqc.1_Missense_Mutation_p.H250Q|HTR2C_uc004epv.1_Silent_p.R219R	p.H250Q	NM_000868	NP_000859	P28335	5HT2C_HUMAN			6	1478	+			250			Cytoplasmic (By similarity).		B1AMW4|Q5VUF8|Q9NP28	Missense_Mutation	SNP	ENST00000276198.1	37	c.750C>A	CCDS14564.1	.	.	.	.	.	.	.	.	.	.	C	3.043	-0.197133	0.06259	.	.	ENSG00000147246	ENST00000276198;ENST00000371951	T;T	0.70749	-0.51;-0.51	4.87	-3.77	0.04346	GPCR, rhodopsin-like superfamily (1);	1.240450	0.05528	N	0.563453	T	0.42108	0.1188	N	0.04508	-0.205	0.29020	N	0.886358	B	0.18166	0.026	B	0.30179	0.112	T	0.21075	-1.0256	10	0.16896	T	0.51	.	0.5764	0.00704	0.3503:0.2601:0.114:0.2756	.	250	P28335	5HT2C_HUMAN	Q	250	ENSP00000276198:H250Q;ENSP00000361019:H250Q	ENSP00000276198:H250Q	H	+	3	2	HTR2C	114047607	0.001000	0.12720	0.005000	0.12908	0.365000	0.29674	-0.467000	0.06664	-1.383000	0.02106	-0.351000	0.07748	CAC		0.512	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1	NM_000868		54	60	1	0	6.3091e-27	0.00361	1.11025e-26	54	60				
DOCK11	139818	broad.mit.edu	37	X	117786007	117786007	+	Silent	SNP	C	C	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:117786007C>T	ENST00000276202.7	+	42	4725	c.4662C>T	c.(4660-4662)atC>atT	p.I1554I	DOCK11_ENST00000276204.6_Silent_p.I1554I	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1554					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TATTCATTATCAATAATTTTG	0.338																																							uc004eqp.2		NA																	0				ovary(3)	3						c.(4660-4662)ATC>ATT		dedicator of cytokinesis 11							81.0	81.0	81.0					X																	117786007		2203	4295	6498	SO:0001819	synonymous_variant	139818				blood coagulation	cytosol	GTP binding	g.chrX:117786007C>T	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.4662C>T	X.37:g.117786007C>T						DOCK11_uc004eqq.2_Silent_p.I1333I	p.I1554I	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN			42	4725	+			1554			DHR-2.		A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Silent	SNP	ENST00000276202.7	37	c.4662C>T	CCDS35373.1																																																																																				0.338	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		5	11	0	0	0	0.000602	0	5	11				
DCAF12L2	340578	broad.mit.edu	37	X	125298782	125298782	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:125298782C>A	ENST00000360028.2	-	1	1152	c.1126G>T	c.(1126-1128)Gac>Tac	p.D376Y	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.D376Y			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	376										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GCGCGGATGTCATAGAAGAGC	0.647																																							uc004euk.1		NA																	0				lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						c.(1126-1128)GAC>TAC		DDB1 and CUL4 associated factor 12-like 2							62.0	67.0	66.0					X																	125298782		2203	4300	6503	SO:0001583	missense	340578							g.chrX:125298782C>A	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.1126G>T	X.37:g.125298782C>A	ENSP00000353128:p.Asp376Tyr						p.D376Y	NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN			1	1153	-			376			WD 4.		B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	c.1126G>T	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.374135	0.61735	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.72167	-0.63;-0.63	3.94	3.94	0.45596	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.38164	N	0.001785	D	0.83792	0.5331	M	0.83774	2.66	0.52099	D	0.999945	D	0.89917	1.0	D	0.87578	0.998	D	0.86355	0.1713	10	0.87932	D	0	.	12.9441	0.58364	0.0:1.0:0.0:0.0	.	376	Q5VW00	DC122_HUMAN	Y	376	ENSP00000441489:D376Y;ENSP00000353128:D376Y	ENSP00000353128:D376Y	D	-	1	0	DCAF12L2	125126463	1.000000	0.71417	0.745000	0.31077	0.736000	0.42039	6.257000	0.72480	2.213000	0.71641	0.600000	0.82982	GAC		0.647	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		12	25	1	0	1.3612e-06	0.003163	1.67559e-06	12	25				
BCORL1	63035	broad.mit.edu	37	X	129173179	129173179	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:129173179G>T	ENST00000218147.7	+	10	4737	c.4540G>T	c.(4540-4542)Gat>Tat	p.D1514Y	BCORL1_ENST00000540052.1_Missense_Mutation_p.D1514Y|BCORL1_ENST00000359304.2_Missense_Mutation_p.D1384Y|BCORL1_ENST00000303743.5_Missense_Mutation_p.D1588Y			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1514					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CTATGGGGCCGATCCCACACT	0.567																																							uc004evb.1		NA																	0				ovary(4)|breast(2)|lung(1)	7						c.(4540-4542)GAT>TAT		BCL6 co-repressor-like 1							129.0	83.0	99.0					X																	129173179		2203	4300	6503	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129173179G>T	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.4540G>T	X.37:g.129173179G>T	ENSP00000218147:p.Asp1514Tyr					BCORL1_uc004evc.1_Missense_Mutation_p.D350Y	p.D1514Y	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN			10	4654	+			1514			ANK 2.		B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.4540G>T	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.416641	0.83449	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	T;T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96;-0.96	5.47	5.47	0.80525	Ankyrin repeat-containing domain (4);	.	.	.	.	D	0.88142	0.6357	M	0.84511	2.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.89970	0.4093	9	0.87932	D	0	-11.2534	18.4786	0.90802	0.0:0.0:1.0:0.0	.	1588;1514	Q5H9F3-3;Q5H9F3	.;BCORL_HUMAN	Y	1514;1588;1384;1514;1188	ENSP00000218147:D1514Y;ENSP00000307541:D1588Y;ENSP00000352253:D1384Y;ENSP00000437775:D1514Y;ENSP00000399483:D1188Y	ENSP00000218147:D1514Y	D	+	1	0	BCORL1	129000860	1.000000	0.71417	0.710000	0.30468	0.866000	0.49608	9.476000	0.97823	2.305000	0.77605	0.529000	0.55759	GAT		0.567	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		13	19	1	0	0.000219431	0.00245	0.000246632	13	19				
ZNF280C	55609	broad.mit.edu	37	X	129354419	129354419	+	Silent	SNP	T	T	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:129354419T>G	ENST00000370978.4	-	13	1584	c.1431A>C	c.(1429-1431)ctA>ctC	p.L477L		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	477					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						TCAAAAATTGTAGTCTGCATT	0.388																																							uc004evm.2		NA																	0				skin(2)|ovary(1)	3						c.(1429-1431)CTA>CTC		zinc finger protein 280C							133.0	118.0	123.0					X																	129354419		2203	4300	6503	SO:0001819	synonymous_variant	55609				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:129354419T>G	AL834333	CCDS14622.1	Xq25	2008-05-02	2007-09-20	2007-09-20	ENSG00000056277	ENSG00000056277			25955	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 3 (Drosophila)"""	SUHW3		12477932	Standard	NM_017666		Approved	FLJ20095, ZNF633	uc004evm.3	Q8ND82	OTTHUMG00000022393	ENST00000370978.4:c.1431A>C	X.37:g.129354419T>G						ZNF280C_uc010nrf.1_Silent_p.L428L	p.L477L	NM_017666	NP_060136	Q8ND82	Z280C_HUMAN			13	1585	-			477			C2H2-type 5.		A8K2V8|Q9NXR3	Silent	SNP	ENST00000370978.4	37	c.1431A>C	CCDS14622.1																																																																																				0.388	ZNF280C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058251.1	NM_017666		13	23	0	0	0	0.001855	0	13	23				
AFF2	2334	broad.mit.edu	37	X	148037342	148037342	+	Silent	SNP	C	C	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:148037342C>A	ENST00000370460.2	+	11	2246	c.1767C>A	c.(1765-1767)ctC>ctA	p.L589L	AFF2_ENST00000342251.3_Silent_p.L556L|AFF2_ENST00000370457.5_Silent_p.L556L|AFF2_ENST00000286437.5_Silent_p.L230L	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	589					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GGCCTCTCCTCAGTCTCATTA	0.483																																							uc004fcp.2		NA																	0				ovary(3)|pancreas(2)	5						c.(1765-1767)CTC>CTA		fragile X mental retardation 2							117.0	120.0	119.0					X																	148037342		2203	4300	6503	SO:0001819	synonymous_variant	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148037342C>A	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.1767C>A	X.37:g.148037342C>A						AFF2_uc004fcq.2_Silent_p.L579L|AFF2_uc004fcr.2_Silent_p.L550L|AFF2_uc011mxb.1_Silent_p.L554L|AFF2_uc004fcs.2_Silent_p.L556L|AFF2_uc011mxc.1_Silent_p.L230L	p.L589L	NM_002025	NP_002016	P51816	AFF2_HUMAN			11	2246	+	Acute lymphoblastic leukemia(192;6.56e-05)		589					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Silent	SNP	ENST00000370460.2	37	c.1767C>A	CCDS14684.1																																																																																				0.483	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		29	31	1	0	2.12542e-12	0.00632	3.1323e-12	29	31				
MAGEA5	4104	broad.mit.edu	37	X	151283837	151283837	+	RNA	SNP	G	G	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:151283837G>A	ENST00000509345.2	-	0	499																											GAGAGGACCTGGTGACCCAGC	0.612																																							uc004ffj.2		NA																	0					0						c.(175-177)CCA>CTA		melanoma antigen family A, 5							59.0	58.0	58.0					X																	151283837		2203	4300	6503			4104							g.chrX:151283837G>A																													X.37:g.151283837G>A							p.P59L	NM_021049	NP_066387	P43359	MAGA5_HUMAN			3	381	-	Acute lymphoblastic leukemia(192;6.56e-05)		59			MAGE.			Missense_Mutation	SNP	ENST00000509345.2	37	c.176C>T																																																																																					0.612	RP11-1007I13.4-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000445981.1			28	12	0	0	0	0.003271	0	28	12				
RENBP	5973	broad.mit.edu	37	X	153205581	153205581	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chrX:153205581G>T	ENST00000393700.3	-	9	1131	c.1051C>A	c.(1051-1053)Caa>Aaa	p.Q351K	RENBP_ENST00000369997.3_Missense_Mutation_p.Q337K|RENBP_ENST00000462086.1_5'Flank|RENBP_ENST00000412763.1_3'UTR	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	351					N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)|regulation of blood pressure (GO:0008217)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|endopeptidase inhibitor activity (GO:0004866)|N-acylglucosamine 2-epimerase activity (GO:0050121)			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	TCAGCCACTTGGTAGAAGAGG	0.607																																							uc004fjo.1		NA																	0				ovary(1)|pancreas(1)	2						c.(1051-1053)CAA>AAA		renin binding protein	N-Acetyl-D-glucosamine(DB00141)						119.0	86.0	97.0					X																	153205581		2203	4300	6503	SO:0001583	missense	5973				mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity	g.chrX:153205581G>T		CCDS14738.2	Xq28	2013-09-23	2001-11-28		ENSG00000102032	ENSG00000102032			9959	protein-coding gene	gene with protein product	"""N-acylglucosamine 2-epimerase"", ""GlcNAc 2-epimerase"", ""N-acetyl-D-glucosamine 2-epimerase"""	312420	"""renin-binding protein"""			1618798	Standard	NM_002910		Approved	RNBP, RBP	uc004fjo.2	P51606	OTTHUMG00000024224	ENST00000393700.3:c.1051C>A	X.37:g.153205581G>T	ENSP00000377303:p.Gln351Lys						p.Q351K	NM_002910	NP_002901	P51606	RENBP_HUMAN			9	1221	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		351					B4DNZ3|Q96BI6	Missense_Mutation	SNP	ENST00000393700.3	37	c.1051C>A	CCDS14738.2	.	.	.	.	.	.	.	.	.	.	G	1.317	-0.600662	0.03744	.	.	ENSG00000102032	ENST00000393700;ENST00000369997;ENST00000451114	T;T;T	0.27256	1.68;1.68;1.68	4.79	3.91	0.45181	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);	0.204155	0.40554	N	0.001068	T	0.15522	0.0374	L	0.31120	0.905	0.44728	D	0.997726	B	0.12013	0.005	B	0.18263	0.021	T	0.07158	-1.0787	10	0.02654	T	1	-11.5505	11.026	0.47744	0.0:0.0:0.6658:0.3342	.	351	P51606	RENBP_HUMAN	K	351;337;30	ENSP00000377303:Q351K;ENSP00000359014:Q337K;ENSP00000409034:Q30K	ENSP00000359014:Q337K	Q	-	1	0	RENBP	152858775	0.980000	0.34600	0.753000	0.31225	0.771000	0.43674	2.049000	0.41288	0.913000	0.36797	0.600000	0.82982	CAA		0.607	RENBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061103.3	NM_002910		21	18	1	0	1.10513e-12	0.002299	1.63842e-12	21	18				
OR2T3	343173	broad.mit.edu	37	1	248637461	248637461	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr1:248637461delC	ENST00000359594.2	+	1	835	c.810delC	c.(808-810)tacfs	p.Y270fs		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CGAGTTCCTACCACACAGCTG	0.542																																							uc001iel.1		NA																	0				skin(1)	1						c.(808-810)TACfs		olfactory receptor, family 2, subfamily T,							341.0	320.0	327.0					1																	248637461		2203	4300	6503	SO:0001589	frameshift_variant	343173				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248637461delC		CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"""GPCR / Class A : Olfactory receptors"""	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.810delC	1.37:g.248637461delC	ENSP00000352604:p.Tyr270fs						p.Y270fs	NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	810	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		270			Extracellular (Potential).		B2RNJ1	Frame_Shift_Del	DEL	ENST00000359594.2	37	c.810delC	CCDS31117.1																																																																																				0.542	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	NM_001005495		102	275	NA	NA	NA	NA	NA	102	275	---	---	---	---
UCN3	114131	broad.mit.edu	37	10	5416097	5416098	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:5416097_5416098insA	ENST00000380433.3	+	2	642_643	c.414_415insA	c.(415-417)aagfs	p.K139fs		NM_053049.2	NP_444277.2	Q969E3	UCN3_HUMAN	urocortin 3	139					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|digestion (GO:0007586)|positive regulation of insulin secretion (GO:0032024)|positive regulation of membrane potential (GO:0045838)|response to corticosterone (GO:0051412)|response to glucose (GO:0009749)|response to immobilization stress (GO:0035902)|response to starvation (GO:0042594)	axon terminus (GO:0043679)|extracellular space (GO:0005615)|varicosity (GO:0043196)				endometrium(1)|large_intestine(1)	2						TCAACATCGCCAAGGCCAAGAA	0.634																																							uc001ihx.1		NA																	0					0						c.(412-417)GCCAAGfs		urocortin 3 preproprotein																																				SO:0001589	frameshift_variant	114131					extracellular region	hormone activity	g.chr10:5416097_5416098insA	AF361943	CCDS7065.1	10p15.1	2013-02-28	2012-10-17		ENSG00000178473	ENSG00000178473		"""Endogenous ligands"""	17781	protein-coding gene	gene with protein product	"""stresscopin"", ""prepro-urocortin 3"""	605901				11416224	Standard	NM_053049		Approved	UCNIII, SPC	uc001ihx.1	Q969E3	OTTHUMG00000017594	ENST00000380433.3:c.416dupA	10.37:g.5416099_5416099dupA	ENSP00000369798:p.Lys139fs						p.A138fs	NM_053049	NP_444277	Q969E3	UCN3_HUMAN			2	638_639	+			138_139					Q496H2|Q5SR91	Frame_Shift_Ins	INS	ENST00000380433.3	37	c.414_415insA	CCDS7065.1																																																																																				0.634	UCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046547.1	NM_053049		16	43	NA	NA	NA	NA	NA	16	43	---	---	---	---
HMX2	3167	broad.mit.edu	37	10	124909434	124909434	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr10:124909434delG	ENST00000339992.3	+	2	874	c.617delG	c.(616-618)cggfs	p.R206fs		NM_005519.1	NP_005510.1	A2RU54	HMX2_HUMAN	H6 family homeobox 2	206					brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|kidney(1)|lung(4)|prostate(1)	7		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)		AAGTGGAAGCGGCAGCTCTCG	0.662																																							uc001lhc.1		NA																	0					0						c.(616-618)CGGfs		H6 family homeobox 2							15.0	15.0	15.0					10																	124909434		2136	4210	6346	SO:0001589	frameshift_variant	3167				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:124909434delG		CCDS31305.1	10q26.13	2011-06-20	2007-07-09		ENSG00000188816	ENSG00000188816		"""Homeoboxes / ANTP class : NKL subclass"""	5018	protein-coding gene	gene with protein product		600647	"""homeo box (H6 family) 2"""			7647458	Standard	XM_005269743		Approved	NKX5-2	uc001lhc.1	A2RU54	OTTHUMG00000019198	ENST00000339992.3:c.617delG	10.37:g.124909434delG	ENSP00000341108:p.Arg206fs						p.R206fs	NM_005519	NP_005510	A2RU54	HMX2_HUMAN		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)	2	874	+		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)	206			Homeobox.		B2RNV5	Frame_Shift_Del	DEL	ENST00000339992.3	37	c.617delG	CCDS31305.1																																																																																				0.662	HMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050841.1	XM_370580		5	9	NA	NA	NA	NA	NA	5	9	---	---	---	---
RBMXL2	27288	broad.mit.edu	37	11	7110371	7110372	+	Frame_Shift_Ins	INS	-	-	G	rs547819539|rs545804453	byFrequency	TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:7110371_7110372insG	ENST00000306904.5	+	1	207_208	c.20_21insG	c.(19-24)ccggggfs	p.PG7fs		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	7						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCGGATCGCCCGGGGAAGCTGT	0.634																																							uc001mfc.2		NA																	0					0						c.(19-21)CCGfs		testes-specific heterogenous nuclear																																				SO:0001589	frameshift_variant	27288					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr11:7110371_7110372insG	AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"""RNA binding motif (RRM) containing"""	17886	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G T"""	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.24dupG	11.37:g.7110375_7110375dupG	ENSP00000304139:p.Pro7fs						p.P7fs	NM_014469	NP_055284	O75526	HNRGT_HUMAN		Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	207_208	+			7					Q6PEZ2|Q9NQU0	Frame_Shift_Ins	INS	ENST00000306904.5	37	c.20_21insG	CCDS7777.1																																																																																				0.634	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384552.1	NM_014469		8	25	NA	NA	NA	NA	NA	8	25	---	---	---	---
CWF19L2	143884	broad.mit.edu	37	11	107224297	107224297	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:107224297delC	ENST00000282251.5	-	13	2065	c.2038delG	c.(2038-2040)gacfs	p.D680fs	CWF19L2_ENST00000433523.1_Frame_Shift_Del_p.D680fs	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	680							catalytic activity (GO:0003824)			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		TGAGAGCTGTCAAAACAATAC	0.363																																							uc010rvp.1		NA																	0					0						c.(2038-2040)GACfs		CWF19-like 2, cell cycle control							115.0	107.0	110.0					11																	107224297		2201	4298	6499	SO:0001589	frameshift_variant	143884						catalytic activity	g.chr11:107224297delC	AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.2038delG	11.37:g.107224297delC	ENSP00000282251:p.Asp680fs					CWF19L2_uc001pjh.3_RNA|CWF19L2_uc009yxo.2_RNA	p.D680fs	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)	13	2068	-		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)	680					A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Frame_Shift_Del	DEL	ENST00000282251.5	37	c.2038delG	CCDS8336.2																																																																																				0.363	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328825.2	NM_152434		12	21	NA	NA	NA	NA	NA	12	21	---	---	---	---
PHLDB1	23187	broad.mit.edu	37	11	118498054	118498054	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr11:118498054delC	ENST00000361417.2	+	7	926	c.515delC	c.(514-516)accfs	p.T172fs	PHLDB1_ENST00000356063.5_Frame_Shift_Del_p.T172fs	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	172										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GGGAACCACACCCCACAGACT	0.522																																							uc001ptr.1		NA																	0					0						c.(514-516)ACCfs		pleckstrin homology-like domain, family B,							63.0	59.0	60.0					11																	118498054		2200	4295	6495	SO:0001589	frameshift_variant	23187							g.chr11:118498054delC		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.515delC	11.37:g.118498054delC	ENSP00000354498:p.Thr172fs					PHLDB1_uc010ryh.1_Frame_Shift_Del_p.T171fs|PHLDB1_uc001pts.2_Frame_Shift_Del_p.T172fs|PHLDB1_uc001ptt.2_Frame_Shift_Del_p.T172fs|PHLDB1_uc001ptu.1_RNA|PHLDB1_uc001ptv.1_5'UTR|PHLDB1_uc001ptw.1_5'Flank	p.T172fs	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	7	868	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)	172					B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Frame_Shift_Del	DEL	ENST00000361417.2	37	c.515delC	CCDS8401.1																																																																																				0.522	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		20	40	NA	NA	NA	NA	NA	20	40	---	---	---	---
SLC6A15	55117	broad.mit.edu	37	12	85279297	85279298	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:85279297_85279298insA	ENST00000266682.5	-	4	1031_1032	c.490_491insT	c.(490-492)tggfs	p.W164fs	SLC6A15_ENST00000551388.1_Intron|SLC6A15_ENST00000450363.3_Frame_Shift_Ins_p.W164fs|SLC6A15_ENST00000552192.1_Frame_Shift_Ins_p.W57fs	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	164					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						AAACAAACTCCAGCCAATGATG	0.366																																							uc001szv.2		NA																	0				pancreas(2)|ovary(1)	3						c.(490-492)TGGfs		solute carrier family 6, member 15 isoform 1																																				SO:0001589	frameshift_variant	55117				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr12:85279297_85279298insA	AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"""Solute carriers"""	13621	protein-coding gene	gene with protein product	"""homolog of rat orphan transporter v7-3"", ""sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"""	607971	"""solute carrier family 6 (neurotransmitter transporter), member 15"""			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.491dupT	12.37:g.85279298_85279298dupA	ENSP00000266682:p.Trp164fs					SLC6A15_uc010sul.1_Frame_Shift_Ins_p.W57fs|SLC6A15_uc001szy.2_Frame_Shift_Ins_p.W164fs	p.W164fs	NM_182767	NP_877499	Q9H2J7	S6A15_HUMAN			4	983_984	-			164			Extracellular (Potential).		A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Frame_Shift_Ins	INS	ENST00000266682.5	37	c.490_491insT	CCDS9026.1																																																																																				0.366	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767		11	44	NA	NA	NA	NA	NA	11	44	---	---	---	---
MMP17	4326	broad.mit.edu	37	12	132335720	132335720	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr12:132335720delG	ENST00000360564.1	+	10	1815	c.1713delG	c.(1711-1713)ccgfs	p.P571fs	MMP17_ENST00000535291.1_Frame_Shift_Del_p.P487fs|MMP17_ENST00000535004.1_Frame_Shift_Del_p.P111fs	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	571					positive regulation of catalytic activity (GO:0043085)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	Marimastat(DB00786)	CCTCTCCCCCGGGGGCCCCAG	0.706																																							uc001ujc.1		NA																	0					0						c.(1711-1713)CCGfs		matrix metalloproteinase 17 preproprotein							9.0	10.0	10.0					12																	132335720		2132	4186	6318	SO:0001589	frameshift_variant	4326				proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr12:132335720delG	X89576	CCDS31927.1	12q24.3	2005-08-08	2005-08-08		ENSG00000198598	ENSG00000198598			7163	protein-coding gene	gene with protein product		602285	"""matrix metalloproteinase 17 (membrane-inserted)"""			9878265	Standard	NM_016155		Approved	MT4-MMP	uc001ujc.1	Q9ULZ9	OTTHUMG00000168050	ENST00000360564.1:c.1713delG	12.37:g.132335720delG	ENSP00000353767:p.Pro571fs					MMP17_uc001ujd.1_Frame_Shift_Del_p.P487fs	p.P571fs	NM_016155	NP_057239	Q9ULZ9	MMP17_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	10	1812	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		571					Q14850	Frame_Shift_Del	DEL	ENST00000360564.1	37	c.1713delG	CCDS31927.1																																																																																				0.706	MMP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397757.1	NM_016155		2	4	NA	NA	NA	NA	NA	2	4	---	---	---	---
FLT1	2321	broad.mit.edu	37	13	28908231	28908231	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr13:28908231delC	ENST00000282397.4	-	18	2775	c.2524delG	c.(2524-2526)gttfs	p.V842fs	FLT1_ENST00000540678.1_Frame_Shift_Del_p.V60fs	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	842	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GATGCTTGAACCACTTTTCCA	0.433																																							uc001usb.3		NA																	0				lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24						c.(2524-2526)GTTfs		fms-related tyrosine kinase 1 isoform 1	Sunitinib(DB01268)						193.0	175.0	181.0					13																	28908231		2203	4300	6503	SO:0001589	frameshift_variant	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:28908231delC	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.2524delG	13.37:g.28908231delC	ENSP00000282397:p.Val842fs					FLT1_uc001usa.3_Frame_Shift_Del_p.V60fs	p.V842fs	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	18	2809	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	842			Cytoplasmic (Potential).|Protein kinase.		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Frame_Shift_Del	DEL	ENST00000282397.4	37	c.2524delG	CCDS9330.1																																																																																				0.433	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			71	236	NA	NA	NA	NA	NA	71	236	---	---	---	---
SLITRK1	114798	broad.mit.edu	37	13	84455198	84455198	+	Frame_Shift_Del	DEL	C	C	-	rs558089981		TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr13:84455198delC	ENST00000377084.2	-	1	1330	c.445delG	c.(445-447)gccfs	p.A149fs		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	149					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TCCTGGAAGGCCCCCGGGTCT	0.468																																							uc001vlk.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(445-447)GCCfs		slit and trk like 1 protein precursor							68.0	71.0	70.0					13																	84455198		2203	4300	6503	SO:0001589	frameshift_variant	114798					integral to membrane		g.chr13:84455198delC	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.445delG	13.37:g.84455198delC	ENSP00000366288:p.Ala149fs						p.A149fs	NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	1331	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	149			LRR 4.|Extracellular (Potential).		Q5U5I6|Q96SF9	Frame_Shift_Del	DEL	ENST00000377084.2	37	c.445delG	CCDS9464.1																																																																																				0.468	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		21	62	NA	NA	NA	NA	NA	21	62	---	---	---	---
ADAM21	8747	broad.mit.edu	37	14	70925698	70925698	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr14:70925698delC	ENST00000603540.1	+	2	1740	c.1482delC	c.(1480-1482)atcfs	p.I494fs	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Frame_Shift_Del_p.I494fs	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	494	Cys-rich.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		AGGACGGGATCCCCTGTAGTG	0.448																																							uc001xmd.2		NA																	0				pancreas(1)|skin(1)	2						c.(1480-1482)ATCfs		ADAM metallopeptidase domain 21 preproprotein							96.0	89.0	92.0					14																	70925698		2203	4300	6503	SO:0001589	frameshift_variant	8747				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70925698delC	AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.1482delC	14.37:g.70925698delC	ENSP00000474385:p.Ile494fs						p.I494fs	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN		all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	1	1482	+			494			Cys-rich.|Extracellular (Potential).		O43507|Q2VPC6|Q32MR0	Frame_Shift_Del	DEL	ENST00000603540.1	37	c.1482delC	CCDS9804.1																																																																																				0.448	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3			25	85	NA	NA	NA	NA	NA	25	85	---	---	---	---
PELP1	27043	broad.mit.edu	37	17	4575456	4575456	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:4575456delC	ENST00000574876.1	-	16	2847	c.2830delG	c.(2830-2832)gaafs	p.E949fs	PELP1_ENST00000301396.4_Frame_Shift_Del_p.E1093fs|PELP1_ENST00000572293.1_Frame_Shift_Del_p.E999fs|PELP1_ENST00000436683.2_Frame_Shift_Del_p.E802fs|PELP1_ENST00000269230.7_Frame_Shift_Del_p.E859fs			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	949	Glu-rich.				cellular response to estrogen stimulus (GO:0071391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						tcttcttcttcctctaactca	0.473																																							uc002fyi.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2830-2832)GAAfs		proline, glutamic acid and leucine rich protein							60.0	62.0	62.0					17																	4575456		2048	4140	6188	SO:0001589	frameshift_variant	27043				transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding	g.chr17:4575456delC		CCDS58503.1, CCDS58503.2, CCDS62038.1	17p13.2	2012-05-02	2008-02-21			ENSG00000141456			30134	protein-coding gene	gene with protein product		609455	"""proline, glutamic acid and leucine rich protein 1"""			11481323, 12682072	Standard	NM_014389		Approved	MNAR	uc002fyi.4	Q8IZL8		ENST00000574876.1:c.2830delG	17.37:g.4575456delC	ENSP00000461625:p.Glu949fs					PELP1_uc010vsf.1_Frame_Shift_Del_p.E797fs	p.E944fs	NM_014389	NP_055204	Q8IZL8	PELP1_HUMAN			16	3056	-			944			Glu-rich.		O15450|Q5EGN3|Q6NTE6|Q96FT1|Q9BU60	Frame_Shift_Del	DEL	ENST00000574876.1	37	c.2830delG	CCDS58503.1																																																																																				0.473	PELP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000439140.2	NM_014389		2	4	NA	NA	NA	NA	NA	2	4	---	---	---	---
GAS2L2	246176	broad.mit.edu	37	17	34072570	34072570	+	Frame_Shift_Del	DEL	C	C	-	rs112674267	byFrequency	TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:34072570delC	ENST00000254466.6	-	6	1973	c.1946delG	c.(1945-1947)ggtfs	p.G649fs	GAS2L2_ENST00000587565.1_Frame_Shift_Del_p.G633fs	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	649					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GTCATAAGGACCCCCAGGCTC	0.627																																							uc002hjv.1		NA																	0				ovary(1)|skin(1)	2						c.(1945-1947)GGTfs		growth arrest-specific 2 like 2							79.0	91.0	87.0					17																	34072570		2203	4300	6503	SO:0001589	frameshift_variant	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34072570delC	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.1946delG	17.37:g.34072570delC	ENSP00000254466:p.Gly649fs						p.G649fs	NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	1974	-		Ovarian(249;0.17)	649					Q8NHY4	Frame_Shift_Del	DEL	ENST00000254466.6	37	c.1946delG	CCDS11298.1																																																																																				0.627	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		39	83	NA	NA	NA	NA	NA	39	83	---	---	---	---
KCNJ2	3759	broad.mit.edu	37	17	68171721	68171734	+	Frame_Shift_Del	DEL	GCCAAGATGGCAAA	GCCAAGATGGCAAA	-			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	GCCAAGATGGCAAA	GCCAAGATGGCAAA	-	-	GCCAAGATGGCAAA	GCCAAGATGGCAAA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr17:68171721_68171734delGCCAAGATGGCAAA	ENST00000243457.3	+	2	924_937	c.541_554delGCCAAGATGGCAAA	c.(541-555)gccaagatggcaaagfs	p.AKMAK181fs	KCNJ2_ENST00000535240.1_Frame_Shift_Del_p.AKMAK181fs	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	181					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					CGCAGTCATGGCCAAGATGGCAAAGCCAAAGAAG	0.5																																							uc010dfg.2		NA																	0					0						c.(541-555)GCCAAGATGGCAAAGfs		potassium inwardly-rectifying channel J2																																				SO:0001589	frameshift_variant	3759				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding	g.chr17:68171721_68171734delGCCAAGATGGCAAA	AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.541_554delGCCAAGATGGCAAA	17.37:g.68171721_68171734delGCCAAGATGGCAAA	ENSP00000243457:p.Ala181fs					KCNJ2_uc002jir.2_Frame_Shift_Del_p.A181fs	p.A181fs	NM_000891	NP_000882	P63252	IRK2_HUMAN			2	942_955	+	Breast(10;1.64e-08)		181_185			Cytoplasmic (By similarity).		O15110|P48049	Frame_Shift_Del	DEL	ENST00000243457.3	37	c.541_554delGCCAAGATGGCAAA	CCDS11688.1																																																																																				0.500	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450889.1	NM_000891		9	82	NA	NA	NA	NA	NA	9	82	---	---	---	---
CA11	770	broad.mit.edu	37	19	49147712	49147712	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:49147712delG	ENST00000084798.4	-	3	936	c.257delC	c.(256-258)ccafs	p.P86fs	SEC1P_ENST00000430145.2_RNA	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN	carbonic anhydrase XI	86						basolateral plasma membrane (GO:0016323)|extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)	Zonisamide(DB00909)	GAGCCTTAATGGGGGCAGAAA	0.587																																							uc002pjz.1		NA																	0					0						c.(256-258)CCAfs		carbonic anhydrase XI precursor							64.0	56.0	59.0					19																	49147712		2203	4300	6503	SO:0001589	frameshift_variant	770					extracellular region		g.chr19:49147712delG	AF067662	CCDS12729.1	19q13.3	2012-07-02			ENSG00000063180	ENSG00000063180		"""Carbonic anhydrases"""	1370	protein-coding gene	gene with protein product	"""CA-RP XI"", ""carbonic anhydrase-related protein XI"", ""carbonic anhydrase-related protein 2"""	604644				9878252	Standard	XR_243956		Approved	CARP2, CARPX1	uc002pjz.1	O75493		ENST00000084798.4:c.257delC	19.37:g.49147712delG	ENSP00000084798:p.Pro86fs					SEC1_uc010xzv.1_Intron|SEC1_uc002pka.2_Intron|SEC1_uc010xzw.1_Intron|SEC1_uc010ema.2_Intron	p.P86fs	NM_001217	NP_001208	O75493	CAH11_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)	3	819	-		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	86					O60596|Q6FHI1|Q9UEC4	Frame_Shift_Del	DEL	ENST00000084798.4	37	c.257delC	CCDS12729.1																																																																																				0.587	CA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466172.1	NM_001217		24	32	NA	NA	NA	NA	NA	24	32	---	---	---	---
KLK6	5653	broad.mit.edu	37	19	51465069	51465069	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr19:51465069delG	ENST00000376851.3	-	5	952	c.513delC	c.(511-513)gccfs	p.A171fs	CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000376853.4_Intron|KLK6_ENST00000310157.2_Frame_Shift_Del_p.A171fs|KLK6_ENST00000456750.2_Frame_Shift_Del_p.A64fs|KLK6_ENST00000391808.1_Frame_Shift_Del_p.A64fs|KLK6_ENST00000594641.1_Frame_Shift_Del_p.A171fs	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	171	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				amyloid precursor protein metabolic process (GO:0042982)|central nervous system development (GO:0007417)|collagen catabolic process (GO:0030574)|hormone metabolic process (GO:0042445)|myelination (GO:0042552)|neuron death (GO:0070997)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|protein autoprocessing (GO:0016540)|regulation of cell differentiation (GO:0045595)|regulation of neuron projection development (GO:0010975)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		GGCCAGGGTAGGCATGCTCAC	0.567																																							uc002pui.2		NA																	0					0						c.(511-513)GCCfs		kallikrein-related peptidase 6 isoform A							166.0	129.0	141.0					19																	51465069		2203	4300	6503	SO:0001589	frameshift_variant	5653				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity	g.chr19:51465069delG	U62801	CCDS12811.1, CCDS42599.1	19q13.3	2011-09-07	2006-10-27			ENSG00000167755		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6367	protein-coding gene	gene with protein product		602652	"""protease, serine, 18"", ""kallikrein 6 (neurosin, zyme)"""	PRSS9, PRSS18		9003450, 16800724, 16800723	Standard	NM_002774		Approved	Bssp, Klk7, neurosin	uc002pui.3	Q92876		ENST00000376851.3:c.513delC	19.37:g.51465069delG	ENSP00000366047:p.Ala171fs					KLK6_uc010eoj.2_Intron|KLK6_uc002puh.2_Frame_Shift_Del_p.A180fs|KLK6_uc002puj.2_Frame_Shift_Del_p.A64fs|KLK6_uc010ycn.1_Frame_Shift_Del_p.A64fs|KLK6_uc002pul.2_Frame_Shift_Del_p.A171fs|KLK6_uc002pum.2_Frame_Shift_Del_p.A64fs	p.A171fs	NM_001012964	NP_001012982	Q92876	KLK6_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)	6	773	-		all_neural(266;0.026)	171			Peptidase S1.		A6NJA1|A8MW09|Q6H301	Frame_Shift_Del	DEL	ENST00000376851.3	37	c.513delC	CCDS12811.1																																																																																				0.567	KLK6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465060.1	NM_002774		109	79	NA	NA	NA	NA	NA	109	79	---	---	---	---
NT5C1B	93034	broad.mit.edu	37	2	18768815	18768816	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:18768815_18768816insG	ENST00000359846.2	-	2	150_151	c.73_74insC	c.(73-75)gaafs	p.E25fs	NT5C1B_ENST00000600945.1_Frame_Shift_Ins_p.E25fs|NT5C1B-RDH14_ENST00000532967.1_Frame_Shift_Ins_p.E25fs|NT5C1B_ENST00000304081.4_Frame_Shift_Ins_p.E25fs|NT5C1B_ENST00000460052.1_5'UTR	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	25					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				CTTTCTTTTTTCTGCTTCTAGA	0.391																																							uc002rcz.2		NA																	0				skin(2)|ovary(1)	3						c.(73-75)GAAfs		5' nucleotidase, cytosolic IB isoform 1																																				SO:0001589	frameshift_variant	93034				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding	g.chr2:18768815_18768816insG	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.73_74insC	2.37:g.18768815_18768816insG	ENSP00000352904:p.Glu25fs					NT5C1B_uc002rcy.2_Frame_Shift_Ins_p.E25fs|NT5C1B_uc010exr.2_Frame_Shift_Ins_p.E25fs|NT5C1B_uc010yju.1_Frame_Shift_Ins_p.E25fs|NT5C1B_uc002rda.2_Frame_Shift_Ins_p.E25fs|NT5C1B_uc010yjv.1_Frame_Shift_Ins_p.E25fs|NT5C1B_uc010yjw.1_Frame_Shift_Ins_p.E25fs|NT5C1B_uc010exs.2_Frame_Shift_Ins_p.E25fs|NT5C1B_uc002rdb.1_5'Flank	p.E25fs	NM_001002006	NP_001002006	Q96P26	5NT1B_HUMAN			2	177_178	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)	25					B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Frame_Shift_Ins	INS	ENST00000359846.2	37	c.73_74insC	CCDS33150.1																																																																																				0.391	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1			40	105	NA	NA	NA	NA	NA	40	105	---	---	---	---
PTPRN	5798	broad.mit.edu	37	2	220167204	220167204	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr2:220167204delG	ENST00000295718.2	-	6	889	c.649delC	c.(649-651)cgtfs	p.R217fs	PTPRN_ENST00000423636.2_Frame_Shift_Del_p.R127fs|PTPRN_ENST00000409251.3_Frame_Shift_Del_p.R217fs|AC114803.3_ENST00000417355.1_RNA	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	217					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GAGCCATCACGGGAGCCAAAC	0.617																																							uc002vkz.2		NA																	0				ovary(2)|lung(1)|skin(1)	4						c.(649-651)CGTfs		protein tyrosine phosphatase, receptor type, N							38.0	45.0	43.0					2																	220167204		2203	4300	6503	SO:0001589	frameshift_variant	5798				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr2:220167204delG		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.649delC	2.37:g.220167204delG	ENSP00000295718:p.Arg217fs					PTPRN_uc010zlc.1_Frame_Shift_Del_p.R127fs|PTPRN_uc002vla.2_Frame_Shift_Del_p.R217fs	p.R217fs	NM_002846	NP_002837	Q16849	PTPRN_HUMAN		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)	6	738	-		Renal(207;0.0474)	217			Extracellular (Potential).		B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Frame_Shift_Del	DEL	ENST00000295718.2	37	c.649delC	CCDS2440.1																																																																																				0.617	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			30	32	NA	NA	NA	NA	NA	30	32	---	---	---	---
ANKEF1	63926	broad.mit.edu	37	20	10030742	10030742	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr20:10030742delA	ENST00000378380.3	+	6	1854	c.1525delA	c.(1525-1527)aaafs	p.K510fs	SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000378392.1_Frame_Shift_Del_p.K510fs|ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000603542.1_RNA	NM_198798.1	NP_942093.1	Q9NU02	ANKE1_HUMAN	ankyrin repeat and EF-hand domain containing 1	510							calcium ion binding (GO:0005509)										GGCTTCTCTGAAAAAGGCCTT	0.393																																							uc002wno.2		NA																	0				ovary(1)|breast(1)	2						c.(1525-1527)AAAfs		ankyrin repeat domain protein 5							71.0	73.0	72.0					20																	10030742		2203	4300	6503	SO:0001589	frameshift_variant	63926						calcium ion binding	g.chr20:10030742delA	AK025322	CCDS13108.1	20p12.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000132623	ENSG00000132623		"""EF-hand domain containing"", ""Ankyrin repeat domain containing"""	15803	protein-coding gene	gene with protein product			"""ankyrin repeat domain 5"""	ANKRD5		17142250	Standard	NM_022096		Approved	FLJ21669, dJ839B4.6	uc002wnp.3	Q9NU02	OTTHUMG00000031860	ENST00000378380.3:c.1525delA	20.37:g.10030742delA	ENSP00000367631:p.Lys510fs					uc002wnn.1_Intron|ANKRD5_uc002wnp.2_Frame_Shift_Del_p.K509fs|ANKRD5_uc010gbz.2_Frame_Shift_Del_p.K320fs	p.K509fs	NM_022096	NP_071379	Q9NU02	ANKR5_HUMAN			7	1918	+			509					B3KUQ0|Q9H6Y9	Frame_Shift_Del	DEL	ENST00000378380.3	37	c.1525delA	CCDS13108.1																																																																																				0.393	ANKEF1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077968.2	NM_022096		13	27	NA	NA	NA	NA	NA	13	27	---	---	---	---
MPPED1	758	broad.mit.edu	37	22	43831041	43831042	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr22:43831041_43831042insA	ENST00000417669.2	+	3	756_757	c.312_313insA	c.(313-315)atcfs	p.I105fs	MPPED1_ENST00000542779.1_Frame_Shift_Ins_p.I105fs|MPPED1_ENST00000443721.1_Frame_Shift_Ins_p.I105fs|MPPED1_ENST00000439548.1_Intron|MPPED1_ENST00000414469.2_5'UTR|MPPED1_ENST00000538182.1_Frame_Shift_Ins_p.I138fs			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	105							hydrolase activity (GO:0016787)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				GGACGGACCCCATCCAGATGCC	0.634																																							uc011apv.1		NA																	0					0						c.(310-315)CCCATCfs		metallophosphoesterase domain containing 1																																				SO:0001589	frameshift_variant	758						hydrolase activity	g.chr22:43831041_43831042insA	U84894	CCDS46723.1	22q13.2	2013-09-20	2005-10-10	2005-10-10	ENSG00000186732	ENSG00000186732			1306	protein-coding gene	gene with protein product		602112	"""chromosome 22 open reading frame 1"""	C22orf1		9266672, 10591208	Standard	NM_001044370		Approved	239AB, FAM1A	uc011apv.2	O15442	OTTHUMG00000150566	ENST00000417669.2:c.313dupA	22.37:g.43831042_43831042dupA	ENSP00000388137:p.Ile105fs					MPPED1_uc011apw.1_5'UTR|MPPED1_uc011apx.1_Intron|MPPED1_uc011apy.1_Frame_Shift_Ins_p.P104fs|MPPED1_uc011apz.1_Frame_Shift_Ins_p.P137fs	p.P104fs	NM_001044370	NP_001037835	O15442	MPPD1_HUMAN			3	535_536	+		all_neural(38;0.0244)|Ovarian(80;0.0694)	104_105					A8K159|B7Z2S9|Q8N361	Frame_Shift_Ins	INS	ENST00000417669.2	37	c.312_313insA	CCDS46723.1																																																																																				0.634	MPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318938.2	NM_001044370		34	134	NA	NA	NA	NA	NA	34	134	---	---	---	---
SLC7A14	57709	broad.mit.edu	37	3	170198544	170198544	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr3:170198544delG	ENST00000231706.5	-	7	1842	c.1527delC	c.(1525-1527)cccfs	p.P509fs	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	509					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TGCCGTAATTGGGGTGGTTGA	0.453																																							uc003fgz.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5						c.(1525-1527)CCCfs		solute carrier family 7 (cationic amino acid							215.0	217.0	217.0					3																	170198544		2203	4300	6503	SO:0001589	frameshift_variant	57709					integral to membrane	amino acid transmembrane transporter activity	g.chr3:170198544delG	BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"""Solute carriers"""	29326	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 142"""	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.1527delC	3.37:g.170198544delG	ENSP00000231706:p.Pro509fs					CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	p.P509fs	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)		7	1843	-	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		509					B3KV33|Q9HCF9	Frame_Shift_Del	DEL	ENST00000231706.5	37	c.1527delC	CCDS33892.1																																																																																				0.453	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949		48	176	NA	NA	NA	NA	NA	48	176	---	---	---	---
KCTD8	386617	broad.mit.edu	37	4	44176951	44176951	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:44176951delG	ENST00000360029.3	-	2	1561	c.1278delC	c.(1276-1278)tccfs	p.S426fs		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	426					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						CTTTCTTTTTGGACAGATTTG	0.403										HNSCC(17;0.042)																													uc003gwu.2		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(1276-1278)TCCfs		potassium channel tetramerisation domain							199.0	209.0	205.0					4																	44176951		2203	4300	6503	SO:0001589	frameshift_variant	386617					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr4:44176951delG	AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 8"""				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.1278delC	4.37:g.44176951delG	ENSP00000353129:p.Ser426fs	HNSCC(17;0.042)					p.S426fs	NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN			2	1562	-			426					A2RU39	Frame_Shift_Del	DEL	ENST00000360029.3	37	c.1278delC	CCDS3467.1																																																																																				0.403	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1			36	151	NA	NA	NA	NA	NA	36	151	---	---	---	---
FBXW7	55294	broad.mit.edu	37	4	153259062	153259062	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr4:153259062delA	ENST00000281708.4	-	5	1982	c.753delT	c.(751-753)cttfs	p.L251fs	FBXW7_ENST00000263981.5_Frame_Shift_Del_p.L171fs|FBXW7_ENST00000603548.1_Frame_Shift_Del_p.L251fs|FBXW7_ENST00000296555.5_Frame_Shift_Del_p.L133fs|FBXW7_ENST00000393956.3_Frame_Shift_Del_p.L75fs|RP11-461L13.2_ENST00000605147.1_RNA|FBXW7_ENST00000603841.1_Frame_Shift_Del_p.L251fs	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	251					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CATCTAAAGCAAGCAATTTCT	0.358			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																		uc003ims.2		NA		Rec	yes		4	4q31.3	55294	Mis|N|D|F	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			colorectal|endometrial|T-ALL		1	Unknown(1)		haematopoietic_and_lymphoid_tissue(1)	haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308						c.(751-753)CTTfs		F-box and WD repeat domain containing 7 isoform							142.0	138.0	139.0					4																	153259062		2203	4300	6503	SO:0001589	frameshift_variant	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	g.chr4:153259062delA	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.753delT	4.37:g.153259062delA	ENSP00000281708:p.Leu251fs					FBXW7_uc011cii.1_Frame_Shift_Del_p.L251fs|FBXW7_uc003imt.2_Frame_Shift_Del_p.L251fs|FBXW7_uc011cih.1_Frame_Shift_Del_p.L75fs|FBXW7_uc003imq.2_Frame_Shift_Del_p.L171fs|FBXW7_uc003imr.2_Frame_Shift_Del_p.L133fs	p.L251fs	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN			5	902	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	251					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Frame_Shift_Del	DEL	ENST00000281708.4	37	c.753delT	CCDS3777.1																																																																																				0.358	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			11	44	NA	NA	NA	NA	NA	11	44	---	---	---	---
MOG	4340	broad.mit.edu	37	6	29640370	29640370	+	IGR	DEL	G	G	-			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:29640370delG	ENST00000376917.3	+	0	2160				ZFP57_ENST00000488757.1_Frame_Shift_Del_p.P506fs|ZFP57_ENST00000376883.1_Frame_Shift_Del_p.P486fs|ZFP57_ENST00000376881.3_Frame_Shift_Del_p.P486fs	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein						cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						TATGGATCCTGGGGGGAGATT	0.517																																							uc011dlw.1		NA																	0				ovary(3)|skin(2)	5						c.(1516-1518)CCCfs		zinc finger protein 57 homolog							79.0	84.0	82.0					6																	29640370		1233	2562	3795	SO:0001628	intergenic_variant	346171				DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding	g.chr6:29640370delG		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099		6.37:g.29640370delG						ZFP57_uc003nnl.3_Frame_Shift_Del_p.P486fs	p.P506fs	NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN			4	1669	-			422					A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Frame_Shift_Del	DEL	ENST00000376917.3	37	c.1518delC	CCDS34370.1																																																																																				0.517	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		10	38	NA	NA	NA	NA	NA	10	38	---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38771088	38771089	+	Splice_Site	INS	-	-	T			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:38771088_38771089insT	ENST00000359357.3	+	20	2637		c.e20+1		DNAH8_ENST00000449981.2_Splice_Site|DNAH8_ENST00000441566.1_Splice_Site			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8						cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAACAGTCAGGTAACTTTTCTC	0.386																																							uc003ooe.1		NA																	0				skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.e20+1		dynein, axonemal, heavy polypeptide 8																																				SO:0001630	splice_region_variant	1769							g.chr6:38771088_38771089insT	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.2383+1->T	6.37:g.38771089_38771089dupT							p.E795_splice	NM_001371	NP_001362					20	2983	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Splice_Site	INS	ENST00000359357.3	37	c.2383_splice																																																																																					0.386	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	Intron	15	59	NA	NA	NA	NA	NA	15	59	---	---	---	---
LPA	4018	broad.mit.edu	37	6	161020604	161020604	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr6:161020604delC	ENST00000316300.5	-	20	3259	c.3215delG	c.(3214-3216)ggafs	p.G1072fs	LPA_ENST00000447678.1_Frame_Shift_Del_p.G1072fs			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3580	Kringle 10. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GCAAGTTCTTCCTGTGACAGT	0.483																																							uc003qtl.2		NA																	0				ovary(3)|skin(2)|pancreas(1)	6						c.(3214-3216)GGAfs		lipoprotein Lp(a) precursor	Aminocaproic Acid(DB00513)						267.0	286.0	280.0					6																	161020604		2203	4300	6503	SO:0001589	frameshift_variant	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161020604delC	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.3215delG	6.37:g.161020604delC	ENSP00000321334:p.Gly1072fs						p.G1072fs	NM_005577	NP_005568	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	21	3335	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3580			Kringle 32.		Q5VTD7|Q9UD88	Frame_Shift_Del	DEL	ENST00000316300.5	37	c.3215delG	CCDS43523.1																																																																																				0.483	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		82	329	NA	NA	NA	NA	NA	82	329	---	---	---	---
CROT	54677	broad.mit.edu	37	7	87022321	87022321	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr7:87022321delG	ENST00000331536.3	+	17	1841	c.1656delG	c.(1654-1656)cagfs	p.Q552fs	CROT_ENST00000419147.2_Frame_Shift_Del_p.Q580fs|CROT_ENST00000442291.1_Frame_Shift_Del_p.Q552fs	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	552					carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)	p.Q552H(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	TACGAGTCCAGGGAGTGGTAG	0.418																																							uc003uit.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)	3						c.(1654-1656)CAGfs		peroxisomal carnitine O-octanoyltransferase	L-Carnitine(DB00583)						199.0	196.0	197.0					7																	87022321		2203	4300	6503	SO:0001589	frameshift_variant	54677				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity	g.chr7:87022321delG		CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.1656delG	7.37:g.87022321delG	ENSP00000331981:p.Gln552fs					CROT_uc003uiu.2_Frame_Shift_Del_p.Q580fs	p.Q552fs	NM_021151	NP_066974	Q9UKG9	OCTC_HUMAN			17	1901	+	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		552					A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Frame_Shift_Del	DEL	ENST00000331536.3	37	c.1656delG	CCDS5604.1																																																																																				0.418	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253485.1	NM_021151		45	121	NA	NA	NA	NA	NA	45	121	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113697737	113697737	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7907-01A-11D-2167-08	TCGA-55-7907-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0dbafe19-dd11-4a91-b946-ebd346121b64	643450d7-0116-4289-a05d-ab41e2d3f5fb	g.chr8:113697737delC	ENST00000297405.5	-	15	2624	c.2380delG	c.(2380-2382)gctfs	p.A794fs	CSMD3_ENST00000352409.3_Frame_Shift_Del_p.A794fs|CSMD3_ENST00000343508.3_Frame_Shift_Del_p.A754fs|CSMD3_ENST00000455883.2_Frame_Shift_Del_p.A690fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	794	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGCACCTCAGCCCCAGTAAAG	0.433										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(2380-2382)GCTfs		CUB and Sushi multiple domains 3 isoform 1							96.0	96.0	96.0					8																	113697737		2203	4300	6503	SO:0001589	frameshift_variant	114788					integral to membrane|plasma membrane		g.chr8:113697737delC	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2380delG	8.37:g.113697737delC	ENSP00000297405:p.Ala794fs	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Frame_Shift_Del_p.A66fs|CSMD3_uc003ynt.2_Frame_Shift_Del_p.A754fs|CSMD3_uc011lhx.1_Frame_Shift_Del_p.A690fs	p.A794fs	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			15	2539	-			794			Extracellular (Potential).|CUB 4.		Q96PZ3	Frame_Shift_Del	DEL	ENST00000297405.5	37	c.2380delG	CCDS6315.1																																																																																				0.433	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		22	91	NA	NA	NA	NA	NA	22	91	---	---	---	---
