#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
PRAMEF16	654348	broad.mit.edu	37	1	13497721	13497721	+	Missense_Mutation	SNP	C	C	G	rs201989524		TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr1:13497721C>G	ENST00000376121.3	+	3	1048	c.1018C>G	c.(1018-1020)Ctt>Gtt	p.L340V		NM_001045480.1	NP_001038945.1	Q5VWM1	PRA16_HUMAN	PRAME family member 16	340					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)							Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCTTGAGCCCCTTGGAGCTCT	0.517																																							uc001aux.2		NA																	0					0						c.(1018-1020)CTT>GTT		PRAME family member 16							79.0	57.0	65.0					1																	13497721		1984	3502	5486	SO:0001583	missense	654348							g.chr1:13497721C>G			1p36.21	2013-01-17			ENSG00000204488			"""-"""	25767	protein-coding gene	gene with protein product							Standard	NM_001045480		Approved	OTTHUMG00000002933	uc001aux.3	Q5VWM1	OTTHUMG00000002933	ENST00000376121.3:c.1018C>G	1.37:g.13497721C>G	ENSP00000365289:p.Leu340Val						p.L340V	NM_001045480	NP_001038945	Q5VWM1	PRA16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	1048	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	340			LRR 1.			Missense_Mutation	SNP	ENST00000376121.3	37	c.1018C>G	CCDS41259.1	.	.	.	.	.	.	.	.	.	.	C	9.554	1.116783	0.20795	.	.	ENSG00000204488	ENST00000376121	T	0.70399	-0.48	1.39	0.359	0.16088	.	0.376602	0.23949	N	0.042970	T	0.80904	0.4713	M	0.87758	2.905	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68640	-0.5355	10	0.87932	D	0	.	3.3475	0.07141	0.0:0.6837:0.0:0.3163	.	340	Q5VWM1	PRA16_HUMAN	V	340	ENSP00000365289:L340V	ENSP00000365289:L340V	L	+	1	0	PRAMEF16	13370308	0.001000	0.12720	0.001000	0.08648	0.007000	0.05969	0.071000	0.14594	0.121000	0.18284	0.186000	0.17326	CTT		0.517	PRAMEF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008178.1	NM_001045480		29	62	0	0	0	0.004289	0	29	62				
HNRNPR	10236	broad.mit.edu	37	1	23660011	23660011	+	Splice_Site	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr1:23660011C>A	ENST00000374612.1	-	5	621	c.498G>T	c.(496-498)gaG>gaT	p.E166D	HNRNPR_ENST00000606561.1_Intron|HNRNPR_ENST00000374616.3_Splice_Site_p.E166D|HNRNPR_ENST00000302271.6_Splice_Site_p.E166D|HNRNPR_ENST00000478691.1_Splice_Site_p.E65D|HNRNPR_ENST00000427764.2_Intron|HNRNPR_ENST00000426846.2_Splice_Site_p.E65D	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	166	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		GAACACTTACCTCCGTTCCAA	0.448																																							uc001bgr.3		NA																	0				upper_aerodigestive_tract(1)|skin(1)	2						c.(496-498)GAG>GAT		heterogeneous nuclear ribonucleoprotein R							98.0	86.0	90.0					1																	23660011		2203	4300	6503	SO:0001630	splice_region_variant	10236					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr1:23660011C>A	AF000364	CCDS232.1, CCDS44085.1, CCDS60020.1, CCDS72726.1, CCDS72727.1	1p36.12	2013-02-12		2007-08-16	ENSG00000125944	ENSG00000125944		"""RNA binding motif (RRM) containing"""	5047	protein-coding gene	gene with protein product		607201		HNRPR		9421497	Standard	XM_005245711		Approved	hnRNP-R	uc001bgp.4	O43390	OTTHUMG00000003224	ENST00000374612.1:c.498+1G>T	1.37:g.23660011C>A						HNRNPR_uc001bgp.3_Missense_Mutation_p.E166D|HNRNPR_uc009vqk.2_Missense_Mutation_p.E65D|HNRNPR_uc001bgs.3_Missense_Mutation_p.E65D|HNRNPR_uc010odw.1_Intron|HNRNPR_uc010odx.1_Missense_Mutation_p.E65D|HNRNPR_uc009vql.2_Intron	p.E166D	NM_005826	NP_005817	O43390	HNRPR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)	5	657	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	166			RRM 1.		Q2L7G6|Q5TEH1|Q9BV64|S4R3J4	Missense_Mutation	SNP	ENST00000374612.1	37	c.498G>T	CCDS232.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.484723	0.84854	.	.	ENSG00000125944	ENST00000374616;ENST00000374612;ENST00000302271;ENST00000426846	T;T;T;T	0.42513	0.97;0.97;0.97;2.67	4.62	3.65	0.41850	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.64560	0.2609	M	0.88979	2.995	0.22745	N	0.998781	D;D;P;D	0.89917	1.0;0.993;0.911;0.996	D;P;P;D	0.76071	0.987;0.9;0.549;0.954	T	0.57458	-0.7808	9	.	.	.	.	6.7627	0.23550	0.0:0.8292:0.0:0.1708	.	65;143;166;166	E7ETM7;Q6MZS5;O43390;O43390-2	.;.;HNRPR_HUMAN;.	D	166;166;166;65	ENSP00000363745:E166D;ENSP00000363741:E166D;ENSP00000304405:E166D;ENSP00000415042:E65D	.	E	-	3	2	HNRNPR	23532598	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.000000	0.63940	1.142000	0.42291	0.467000	0.42956	GAG		0.448	HNRNPR-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008889.1	NM_005826	Missense_Mutation	8	27	1	0	2.74318e-10	0.006214	3.82769e-10	8	27				
ARID1A	8289	broad.mit.edu	37	1	27056169	27056169	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr1:27056169A>T	ENST00000324856.7	+	2	1536	c.1165A>T	c.(1165-1167)Aag>Tag	p.K389*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.K6*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.K389*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	389					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.K389Q(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCAGATGGGCAAGATGAGACC	0.507			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																		uc001bmv.1		NA		Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		1	Substitution - Missense(1)		lung(1)	ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(1165-1167)AAG>TAG		AT rich interactive domain 1A isoform a							104.0	108.0	106.0					1																	27056169		2203	4300	6503	SO:0001587	stop_gained	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27056169A>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1165A>T	1.37:g.27056169A>T	ENSP00000320485:p.Lys389*					ARID1A_uc001bmt.1_Nonsense_Mutation_p.K389*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.K389*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.K6*	p.K389*	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	2	1538	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	389					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	37	c.1165A>T	CCDS285.1	.	.	.	.	.	.	.	.	.	.	A	38	6.663607	0.97743	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000524572;ENST00000374152	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.2728	16.8061	0.85666	1.0:0.0:0.0:0.0	.	.	.	.	X	389;389;6;6	.	ENSP00000320485:K389X	K	+	1	0	ARID1A	26928756	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.918000	0.92759	2.367000	0.80283	0.528000	0.53228	AAG		0.507	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		21	66	0	0	0	0.00333	0	21	66				
FNDC5	252995	broad.mit.edu	37	1	33333813	33333813	+	Silent	SNP	C	C	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr1:33333813C>T	ENST00000373471.3	-	3	453	c.387G>A	c.(385-387)gaG>gaA	p.E129E	FNDC5_ENST00000609187.1_Silent_p.E54E|FNDC5_ENST00000496770.1_Silent_p.E54E	NM_001171940.1|NM_153756.2	NP_001165411.2|NP_715637.2	Q8NAU1	FNDC5_HUMAN	fibronectin type III domain containing 5	129					positive regulation of brown fat cell differentiation (GO:0090336)|response to muscle activity (GO:0014850)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)				breast(1)|large_intestine(1)|lung(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				AGGCCATCTTCTCAGCCTCAC	0.602																																							uc001bwg.2		NA																	0				ovary(1)	1						c.(160-162)GAG>GAA		fibronectin type III domain containing 5							112.0	116.0	114.0					1																	33333813		2203	4300	6503	SO:0001819	synonymous_variant	252995					integral to membrane|peroxisomal membrane		g.chr1:33333813C>T	AK092102	CCDS369.1, CCDS369.2, CCDS65483.1	1p34.3	2013-10-16			ENSG00000160097	ENSG00000160097		"""Fibronectin type III domain containing"""	20240	protein-coding gene	gene with protein product	"""irisin"""	611906				12384288, 22237023, 24120943	Standard	NM_153756		Approved	FRCP2	uc001bwg.3	Q8NAU1	OTTHUMG00000004015	ENST00000373471.3:c.387G>A	1.37:g.33333813C>T						FNDC5_uc001bwf.1_Silent_p.E54E	p.E54E	NM_153756	NP_715637	Q8NAU1	FNDC5_HUMAN			3	377	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	113			Extracellular (Potential).		A6NMC9|D3DPQ6|Q6P6D9|Q7Z676	Silent	SNP	ENST00000373471.3	37	c.162G>A																																																																																					0.602	FNDC5-001	KNOWN	non_ATG_start|basic	protein_coding	protein_coding	OTTHUMT00000011467.3	NM_153756		49	118	0	0	0	0.01441	0	49	118				
CYP2J2	1573	broad.mit.edu	37	1	60377303	60377303	+	Silent	SNP	A	A	G			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr1:60377303A>G	ENST00000371204.3	-	4	704	c.661T>C	c.(661-663)Ttg>Ctg	p.L221L	CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	221					arachidonic acid metabolic process (GO:0019369)|epoxygenase P450 pathway (GO:0019373)|icosanoid metabolic process (GO:0006690)|linoleic acid metabolic process (GO:0043651)|regulation of heart contraction (GO:0008016)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	arachidonic acid 11,12-epoxygenase activity (GO:0008405)|arachidonic acid 14,15-epoxygenase activity (GO:0008404)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|linoleic acid epoxygenase activity (GO:0071614)			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)				Apixaban(DB06605)|Astemizole(DB00637)|Cholecalciferol(DB00169)|Levomilnacipran(DB08918)|Masoprocol(DB00179)|Rivaroxaban(DB06228)	GAAGCCTCCAAGTATGTGACT	0.448																																							uc001czq.2		NA																	0				ovary(1)	1						c.(661-663)TTG>CTG		cytochrome P450, family 2, subfamily J,							113.0	108.0	110.0					1																	60377303		2203	4300	6503	SO:0001819	synonymous_variant	1573				epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity	g.chr1:60377303A>G	BC032594	CCDS613.1	1p31.3-p31.2	2008-02-05	2003-01-14		ENSG00000134716	ENSG00000134716		"""Cytochrome P450s"""	2634	protein-coding gene	gene with protein product		601258	"""cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase) polypeptide 2"""			9570962	Standard	NM_000775		Approved		uc001czq.3	P51589	OTTHUMG00000008991	ENST00000371204.3:c.661T>C	1.37:g.60377303A>G							p.L221L	NM_000775	NP_000766	P51589	CP2J2_HUMAN			4	666	-	all_cancers(7;0.000396)		221					B2RD33|Q8TF13	Silent	SNP	ENST00000371204.3	37	c.661T>C	CCDS613.1																																																																																				0.448	CYP2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024940.1	NM_000775		9	51	0	0	0	0.010729	0	9	51				
RBMXL1	494115	broad.mit.edu	37	1	89448581	89448581	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr1:89448581T>C	ENST00000321792.5	-	2	1356	c.929A>G	c.(928-930)tAt>tGt	p.Y310C	CCBL2_ENST00000446900.2_Intron|RBMXL1_ENST00000413769.1_5'Flank|CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000370485.2_Intron|RBMXL1_ENST00000399794.2_Missense_Mutation_p.Y310C|CCBL2_ENST00000260508.4_Intron	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	310	Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										ATAATCATCATAGCGACTGCT	0.488																																							uc009wcx.2		NA																	0					0						c.(928-930)TAT>TGT		RNA binding motif protein, X-linked-like 1							179.0	180.0	179.0					1																	89448581		2203	4300	6503	SO:0001583	missense	494115						nucleotide binding|RNA binding	g.chr1:89448581T>C	BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"""RNA binding motif (RRM) containing"""	25073	protein-coding gene	gene with protein product	"""kynurenine aminotransferase III"""					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.929A>G	1.37:g.89448581T>C	ENSP00000318415:p.Tyr310Cys					CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc001dms.2_Missense_Mutation_p.Y310C	p.Y310C	NM_001162536	NP_001156008	Q96E39	RBMXL_HUMAN			3	1645	-			310			Ser-rich.			Missense_Mutation	SNP	ENST00000321792.5	37	c.929A>G	CCDS716.1	.	.	.	.	.	.	.	.	.	.	T	11.82	1.753750	0.31046	.	.	ENSG00000213516	ENST00000321792;ENST00000399794	T;T	0.81078	-1.45;-1.45	1.65	1.65	0.23941	.	0.000000	0.85682	D	0.000000	T	0.58452	0.2123	L	0.52126	1.63	0.36341	D	0.859503	B	0.18310	0.027	B	0.11329	0.006	T	0.59069	-0.7523	10	0.62326	D	0.03	-6.8462	6.9999	0.24803	0.0:0.0:0.0:1.0	.	310	Q96E39	RBMXL_HUMAN	C	310	ENSP00000318415:Y310C;ENSP00000446099:Y310C	ENSP00000318415:Y310C	Y	-	2	0	RBMXL1	89221169	1.000000	0.71417	0.644000	0.29465	0.919000	0.55068	5.135000	0.64777	0.759000	0.33084	0.254000	0.18369	TAT		0.488	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029403.3	NM_019610		42	112	0	0	0	0.01441	0	42	112				
NTNG1	22854	broad.mit.edu	37	1	107973521	107973521	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr1:107973521G>A	ENST00000370068.1	+	6	2083	c.1237G>A	c.(1237-1239)Gat>Aat	p.D413N	NTNG1_ENST00000370070.2_Intron|NTNG1_ENST00000370066.1_Intron|NTNG1_ENST00000370071.2_Intron|NTNG1_ENST00000542803.1_Missense_Mutation_p.D413N|NTNG1_ENST00000370065.1_Missense_Mutation_p.D413N|NTNG1_ENST00000370072.3_Missense_Mutation_p.D413N|NTNG1_ENST00000370067.1_Intron|NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000370073.2_Missense_Mutation_p.D413N|NTNG1_ENST00000370061.3_Intron			Q9Y2I2	NTNG1_HUMAN	netrin G1	413	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		ACAACTGGACGATGAGAATGT	0.458																																							uc001dvh.3		NA																	0				large_intestine(2)|ovary(2)|skin(2)	6						c.(1237-1239)GAT>AAT		netrin G1 isoform 1							134.0	118.0	123.0					1																	107973521		1568	3582	5150	SO:0001583	missense	22854				axonogenesis	anchored to plasma membrane	protein binding	g.chr1:107973521G>A	AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"""Netrins"""	23319	protein-coding gene	gene with protein product	"""netrin G1f"", ""Netrin-G1"""	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.1237G>A	1.37:g.107973521G>A	ENSP00000359085:p.Asp413Asn					NTNG1_uc001dvf.3_Intron|NTNG1_uc010out.1_Intron|NTNG1_uc001dvc.3_Intron|NTNG1_uc001dvi.2_Intron|NTNG1_uc001dve.2_RNA|NTNG1_uc009wek.2_Intron|NTNG1_uc001dvg.2_Intron|NTNG1_uc009wem.2_Intron	p.D413N	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)	6	1955	+		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)	413			Laminin EGF-like 2.		Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Missense_Mutation	SNP	ENST00000370068.1	37	c.1237G>A	CCDS44180.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.787985	0.49997	.	.	ENSG00000162631	ENST00000370073;ENST00000542803;ENST00000370072;ENST00000370064;ENST00000370068;ENST00000370065	T;T;T;T;T	0.60920	0.15;0.15;0.15;0.15;0.15	5.54	5.54	0.83059	EGF-like, laminin (4);	0.000000	0.64402	D	0.000010	T	0.58323	0.2114	M	0.84326	2.69	0.80722	D	1	P	0.44139	0.827	B	0.42798	0.398	T	0.64309	-0.6438	10	0.42905	T	0.14	.	19.4875	0.95035	0.0:0.0:1.0:0.0	.	413	Q9Y2I2	NTNG1_HUMAN	N	413;413;413;216;413;413	ENSP00000359090:D413N;ENSP00000440561:D413N;ENSP00000359089:D413N;ENSP00000359085:D413N;ENSP00000359082:D413N	ENSP00000359081:D216N	D	+	1	0	NTNG1	107775044	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.868000	0.87116	2.615000	0.88500	0.655000	0.94253	GAT		0.458	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000030340.1	NM_014917		7	20	0	0	0	0.008291	0	7	20				
TBX15	6913	broad.mit.edu	37	1	119427455	119427455	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr1:119427455C>A	ENST00000369429.3	-	8	1718	c.1709G>T	c.(1708-1710)aGc>aTc	p.S570I	TBX15_ENST00000207157.3_Missense_Mutation_p.S464I			Q96SF7	TBX15_HUMAN	T-box 15	570					embryonic cranial skeleton morphogenesis (GO:0048701)	Tle3-Aes complex (GO:0070722)	RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		GGGTGAAGGGCTAATCATGTG	0.542																																							uc001ehl.1		NA																	0				large_intestine(1)|pancreas(1)	2						c.(1390-1392)AGC>ATC		T-box 15							89.0	83.0	85.0					1																	119427455		2203	4300	6503	SO:0001583	missense	6913					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:119427455C>A	AK127536	CCDS30816.1	1p11.1	2008-02-05	2004-10-05		ENSG00000092607	ENSG00000092607		"""T-boxes"""	11594	protein-coding gene	gene with protein product		604127	"""T-box 14"""	TBX14		9693034	Standard	XM_005271162		Approved		uc001ehl.1	Q96SF7	OTTHUMG00000012263	ENST00000369429.3:c.1709G>T	1.37:g.119427455C>A	ENSP00000358437:p.Ser570Ile					TBX15_uc009whj.1_Missense_Mutation_p.S288I	p.S464I	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)	8	1706	-	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)	570					Q08E76|Q5JT54|Q5T9S7	Missense_Mutation	SNP	ENST00000369429.3	37	c.1391G>T		.	.	.	.	.	.	.	.	.	.	C	19.37	3.815164	0.70912	.	.	ENSG00000092607	ENST00000344218;ENST00000207157;ENST00000369429;ENST00000449873	D;D;D	0.90261	-2.63;-2.64;-1.57	5.31	4.38	0.52667	.	0.146222	0.64402	D	0.000006	D	0.89615	0.6766	L	0.32530	0.975	0.47698	D	0.999499	D;D	0.71674	0.998;0.992	P;P	0.62184	0.899;0.878	D	0.91349	0.5103	10	0.66056	D	0.02	.	15.9821	0.80116	0.0:0.865:0.135:0.0	.	367;570	E9PCG3;Q96SF7	.;TBX15_HUMAN	I	367;464;570;298	ENSP00000207157:S464I;ENSP00000358437:S570I;ENSP00000398625:S298I	ENSP00000207157:S464I	S	-	2	0	TBX15	119228978	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	6.994000	0.76251	1.444000	0.47605	0.561000	0.74099	AGC		0.542	TBX15-002	PUTATIVE	not_organism_supported|upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000034351.1	NM_152380		19	39	1	0	2.35188e-11	0.006122	3.30733e-11	19	39				
ADAR	103	broad.mit.edu	37	1	154574460	154574460	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr1:154574460C>A	ENST00000368474.4	-	2	857	c.658G>T	c.(658-660)Gcc>Tcc	p.A220S	ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000292205.5_Missense_Mutation_p.A263S|ADAR_ENST00000471068.1_5'Flank	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	220					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		GAGTTTGGGGCTCCTTGGCTA	0.527																																							uc001ffh.2		NA																	0				ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						c.(658-660)GCC>TCC		adenosine deaminase, RNA-specific isoform a							87.0	92.0	90.0					1																	154574460		2203	4300	6503	SO:0001583	missense	103				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	g.chr1:154574460C>A	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.658G>T	1.37:g.154574460C>A	ENSP00000357459:p.Ala220Ser					ADAR_uc001ffj.2_Missense_Mutation_p.A220S|ADAR_uc001ffi.2_Missense_Mutation_p.A220S|ADAR_uc001ffk.2_5'UTR|ADAR_uc001ffl.1_5'UTR	p.A220S	NM_001111	NP_001102	P55265	DSRAD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)	2	858	-	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		220					B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000368474.4	37	c.658G>T	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	C	9.419	1.082614	0.20309	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000529168	T;T;T	0.11930	2.73;2.74;2.75	2.54	-0.627	0.11541	.	1.583840	0.04019	N	0.299403	T	0.02533	0.0077	L	0.34521	1.04	0.09310	N	1	P;P;B	0.36837	0.571;0.571;0.0	B;B;B	0.26969	0.075;0.075;0.001	T	0.37103	-0.9720	10	0.54805	T	0.06	0.0	2.9881	0.05974	0.0:0.4623:0.2376:0.3001	.	220;220;220	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	S	263;220;215	ENSP00000292205:A263S;ENSP00000357459:A220S;ENSP00000431794:A215S	ENSP00000292205:A263S	A	-	1	0	ADAR	152841084	0.000000	0.05858	0.000000	0.03702	0.393000	0.30537	-0.145000	0.10265	-0.143000	0.11334	0.313000	0.20887	GCC		0.527	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111		4	67	1	0	0.00307968	0.00308	0.00328013	4	67				
ADAR	103	broad.mit.edu	37	1	154574475	154574475	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr1:154574475C>T	ENST00000368474.4	-	2	842	c.643G>A	c.(643-645)Ggt>Agt	p.G215S	ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000292205.5_Missense_Mutation_p.G258S|ADAR_ENST00000471068.1_5'Flank	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	215					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TGGCTATGACCGTCTGGTCTT	0.522																																							uc001ffh.2		NA																	0				ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						c.(643-645)GGT>AGT		adenosine deaminase, RNA-specific isoform a							91.0	96.0	95.0					1																	154574475		2203	4300	6503	SO:0001583	missense	103				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	g.chr1:154574475C>T	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.643G>A	1.37:g.154574475C>T	ENSP00000357459:p.Gly215Ser					ADAR_uc001ffj.2_Missense_Mutation_p.G215S|ADAR_uc001ffi.2_Missense_Mutation_p.G215S|ADAR_uc001ffk.2_5'UTR|ADAR_uc001ffl.1_5'UTR	p.G215S	NM_001111	NP_001102	P55265	DSRAD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)	2	843	-	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		215					B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000368474.4	37	c.643G>A	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	C	7.185	0.590307	0.13812	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000529168	T;T;T	0.11495	2.77;2.77;2.78	2.54	-5.07	0.02938	.	13.364500	0.00447	N	0.000091	T	0.01421	0.0046	N	0.11927	0.2	0.09310	N	1	B;B;B	0.14438	0.01;0.01;0.008	B;B;B	0.06405	0.002;0.002;0.002	T	0.39057	-0.9632	10	0.33940	T	0.23	13.0811	4.3347	0.11080	0.0:0.2519:0.3265:0.4216	.	215;215;215	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	S	258;215;210	ENSP00000292205:G258S;ENSP00000357459:G215S;ENSP00000431794:G210S	ENSP00000292205:G258S	G	-	1	0	ADAR	152841099	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-1.602000	0.02079	-1.387000	0.02095	-0.671000	0.03813	GGT		0.522	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111		4	74	0	0	0	0.006214	0	4	74				
SPTA1	6708	broad.mit.edu	37	1	158627389	158627389	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr1:158627389G>T	ENST00000368147.4	-	19	2863	c.2683C>A	c.(2683-2685)Ctt>Att	p.L895I		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	895					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)					TTGGCTTCAAGATCATTTTGT	0.468																																							uc001fst.1		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(2683-2685)CTT>ATT		spectrin, alpha, erythrocytic 1							181.0	178.0	179.0					1																	158627389		2013	4198	6211	SO:0001583	missense	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.chr1:158627389G>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.2683C>A	1.37:g.158627389G>T	ENSP00000357129:p.Leu895Ile						p.L895I	NM_003126	NP_003117	P02549	SPTA1_HUMAN			19	2882	-	all_hematologic(112;0.0378)		895			Spectrin 9.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.2683C>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.182487	0.57800	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.80123	-1.34;-1.34	4.67	4.67	0.58626	.	0.000000	0.29260	N	0.012672	D	0.91365	0.7276	M	0.93507	3.425	0.53005	D	0.999962	D	0.89917	1.0	D	0.97110	1.0	D	0.92969	0.6396	10	0.66056	D	0.02	.	16.6566	0.85230	0.0:0.0:1.0:0.0	.	895	P02549	SPTA1_HUMAN	I	895	ENSP00000357130:L895I;ENSP00000357129:L895I	ENSP00000357129:L895I	L	-	1	0	SPTA1	156894013	1.000000	0.71417	0.270000	0.24601	0.038000	0.13279	6.642000	0.74329	2.573000	0.86826	0.655000	0.94253	CTT		0.468	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		28	136	1	0	1.836e-18	0.003755	2.9246e-18	28	136				
USF1	7391	broad.mit.edu	37	1	161011631	161011631	+	Silent	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr1:161011631C>A	ENST00000368021.3	-	6	486	c.282G>T	c.(280-282)gtG>gtT	p.V94V	TSTD1_ENST00000318289.10_5'Flank|TSTD1_ENST00000368024.1_5'Flank|TSTD1_ENST00000368023.3_5'Flank|USF1_ENST00000368019.1_Silent_p.V94V|USF1_ENST00000368020.1_Silent_p.V94V|TSTD1_ENST00000423014.2_5'Flank|F11R_ENST00000289779.3_5'Flank|USF1_ENST00000435396.1_Silent_p.V35V	NM_007122.3	NP_009053.1	P22415	USF1_HUMAN	upstream transcription factor 1	94					carbon catabolite regulation of transcription (GO:0045990)|cellular response to insulin stimulus (GO:0032869)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|late viral transcription (GO:0019086)|lipid homeostasis (GO:0055088)|negative regulation of fibrinolysis (GO:0051918)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter by glucose (GO:0000430)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CACCCTGGATCACCGCCTGGG	0.537																																							uc001fxi.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(280-282)GTG>GTT		upstream stimulatory factor 1 isoform 1							66.0	61.0	62.0					1																	161011631		2203	4300	6503	SO:0001819	synonymous_variant	7391				cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to hypoxia|response to UV	transcription factor complex	bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr1:161011631C>A	BC035505	CCDS1214.1	1q22-q23	2013-05-21			ENSG00000158773	ENSG00000158773		"""Basic helix-loop-helix proteins"""	12593	protein-coding gene	gene with protein product		191523				8486371	Standard	NM_007122		Approved	UEF, MLTFI, bHLHb11	uc031pqv.1	P22415	OTTHUMG00000031472	ENST00000368021.3:c.282G>T	1.37:g.161011631C>A						F11R_uc010pjw.1_5'Flank|F11R_uc001fxf.3_5'Flank|TSTD1_uc010pjx.1_5'Flank|TSTD1_uc009wtw.2_5'Flank|TSTD1_uc001fxh.3_5'Flank|USF1_uc001fxj.2_Silent_p.V35V	p.V94V	NM_007122	NP_009053	P22415	USF1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00122)		6	477	-	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		94					B2RBZ4|Q5SY46|Q7Z5Y1	Silent	SNP	ENST00000368021.3	37	c.282G>T	CCDS1214.1																																																																																				0.537	USF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077050.1	NM_007122		34	37	1	0	9.45814e-24	0.004878	1.6214e-23	34	37				
UCK2	7371	broad.mit.edu	37	1	165865506	165865506	+	Silent	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr1:165865506C>A	ENST00000367879.4	+	4	739	c.436C>A	c.(436-438)Cga>Aga	p.R146R	RP11-525G13.2_ENST00000455257.2_RNA|UCK2_ENST00000469256.2_5'UTR|UCK2_ENST00000372212.4_Intron|UCK2_ENST00000462329.1_3'UTR|UCK2_ENST00000470820.1_5'UTR	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN	uridine-cytidine kinase 2	146					cellular response to oxygen levels (GO:0071453)|CTP salvage (GO:0044211)|feeding behavior (GO:0007631)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|response to axon injury (GO:0048678)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|nucleoside kinase activity (GO:0019206)|uridine kinase activity (GO:0004849)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					CCAGGAGGTACGAGACCTGTT	0.547																																							uc001gdp.2		NA																	0				ovary(1)	1						c.(436-438)CGA>AGA		uridine-cytidine kinase 2							217.0	206.0	210.0					1																	165865506		2203	4300	6503	SO:0001819	synonymous_variant	7371				pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity	g.chr1:165865506C>A	AF236637	CCDS1252.1	1p32	2012-10-02	2004-07-13	2004-07-14	ENSG00000143179	ENSG00000143179	2.7.1.48		12562	protein-coding gene	gene with protein product		609329	"""uridine monophosphate kinase"""	UMPK			Standard	NM_012474		Approved		uc001gdp.3	Q9BZX2	OTTHUMG00000040117	ENST00000367879.4:c.436C>A	1.37:g.165865506C>A						UCK2_uc010plb.1_Intron	p.R146R	NM_012474	NP_036606	Q9BZX2	UCK2_HUMAN			4	617	+	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)		146					Q5VV91|Q7KZV3|Q92528|Q96KG5|Q9BU42	Silent	SNP	ENST00000367879.4	37	c.436C>A	CCDS1252.1																																																																																				0.547	UCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096753.1	NM_012474		27	157	1	0	1.75199e-13	0.007291	2.56388e-13	27	157				
RGS18	64407	broad.mit.edu	37	1	192127884	192127884	+	Silent	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr1:192127884C>A	ENST00000367460.3	+	1	298	c.117C>A	c.(115-117)atC>atA	p.I39I	RGS18_ENST00000481707.1_3'UTR	NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	39					G-protein coupled receptor signaling pathway (GO:0007186)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AAGCCAAAATCAGGTAAAATT	0.279																																							uc001gsg.2		NA																	0				ovary(3)	3						c.(115-117)ATC>ATA		regulator of G-protein signalling 18							46.0	50.0	49.0					1																	192127884		2202	4287	6489	SO:0001819	synonymous_variant	64407				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:192127884C>A	AF268036	CCDS1374.1	1q31.2	2008-02-05	2007-08-14		ENSG00000150681	ENSG00000150681		"""Regulators of G-protein signaling"""	14261	protein-coding gene	gene with protein product		607192	"""regulator of G-protein signalling 18"""			11042171	Standard	NM_130782		Approved	RGS13	uc001gsg.3	Q9NS28	OTTHUMG00000035592	ENST00000367460.3:c.117C>A	1.37:g.192127884C>A							p.I39I	NM_130782	NP_570138	Q9NS28	RGS18_HUMAN			1	293	+			39					B2RD23	Silent	SNP	ENST00000367460.3	37	c.117C>A	CCDS1374.1																																																																																				0.279	RGS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086382.1	NM_130782		9	25	1	0	1.76689e-08	0.006214	2.32147e-08	9	25				
CFHR2	3080	broad.mit.edu	37	1	196871712	196871712	+	Intron	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr1:196871712C>A	ENST00000367421.3	+	2	135				CFHR4_ENST00000608469.1_Intron|CFHR4_ENST00000367416.2_Missense_Mutation_p.Q74K|CFHR4_ENST00000251424.4_Missense_Mutation_p.Q75K|CFHR4_ENST00000367418.2_Intron			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						TCATTGCACACAAGATGGTTG	0.383																																							uc001gto.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(223-225)CAA>AAA		complement factor H-related 4 precursor							124.0	125.0	125.0					1																	196871712		2154	4290	6444	SO:0001627	intron_variant	10877					extracellular region	lipid transporter activity	g.chr1:196871712C>A	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367421.3:c.59-46873C>A	1.37:g.196871712C>A						CFHR4_uc009wyy.2_Missense_Mutation_p.Q74K|CFHR4_uc001gtp.2_Missense_Mutation_p.Q75K	p.Q75K	NM_006684	NP_006675	Q92496	FHR4_HUMAN			2	292	+			75			Sushi 1.		Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367421.3	37	c.223C>A		.	.	.	.	.	.	.	.	.	.	.	10.59	1.393068	0.25118	.	.	ENSG00000134365	ENST00000367416;ENST00000251424	T;T	0.64085	-0.08;-0.08	3.25	-5.67	0.02444	Complement control module (2);Sushi/SCR/CCP (2);	.	.	.	.	T	0.58935	0.2157	L	0.44542	1.39	0.09310	N	1	B;P;P	0.52692	0.35;0.699;0.955	B;B;D	0.66196	0.097;0.14;0.942	T	0.53401	-0.8444	9	0.08179	T	0.78	.	5.6621	0.17674	0.5266:0.1861:0.2872:0.0	.	74;75;75	C9J7J7;Q5DVJ7;Q92496	.;.;FHR4_HUMAN	K	74;75	ENSP00000356386:Q74K;ENSP00000251424:Q75K	ENSP00000251424:Q75K	Q	+	1	0	CFHR4	195138335	0.004000	0.15560	0.005000	0.12908	0.219000	0.24729	0.045000	0.14013	-0.760000	0.04677	0.423000	0.28283	CAA		0.383	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005666		41	74	1	0	2.24722e-20	0.01441	3.71101e-20	41	74				
USH2A	7399	broad.mit.edu	37	1	215821947	215821947	+	Silent	SNP	T	T	C			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr1:215821947T>C	ENST00000307340.3	-	66	14891	c.14505A>G	c.(14503-14505)ccA>ccG	p.P4835P	USH2A_ENST00000366943.2_Silent_p.P4835P	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4835	Fibronectin type-III 34. {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)		TCCCGATTTGTGGAGAGGACA	0.577										HNSCC(13;0.011)																													uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(14503-14505)CCA>CCG		usherin isoform B							104.0	91.0	96.0					1																	215821947		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.chr1:215821947T>C	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.14505A>G	1.37:g.215821947T>C		HNSCC(13;0.011)					p.P4835P	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	66	14892	-			4835			Extracellular (Potential).|Fibronectin type-III 34.		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.14505A>G	CCDS31025.1																																																																																				0.577	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		15	42	0	0	0	0.007413	0	15	42				
OBSCN	84033	broad.mit.edu	37	1	228505241	228505241	+	Silent	SNP	C	C	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr1:228505241C>T	ENST00000422127.1	+	52	13682	c.13638C>T	c.(13636-13638)ccC>ccT	p.P4546P	OBSCN_ENST00000570156.2_Silent_p.P5503P|OBSCN_ENST00000366707.4_Silent_p.P2180P|OBSCN_ENST00000366709.4_Silent_p.P1665P|OBSCN_ENST00000284548.11_Silent_p.P4546P	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4546	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGCAGCTCCCATGAGTGATG	0.662																																							uc009xez.1		NA																	0				stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(13636-13638)CCC>CCT		obscurin, cytoskeletal calmodulin and							35.0	40.0	38.0					1																	228505241		2080	4217	6297	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228505241C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.13638C>T	1.37:g.228505241C>T						OBSCN_uc001hsn.2_Silent_p.P4546P	p.P4546P	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			52	13682	+		Prostate(94;0.0405)	4546			Fibronectin type-III 3.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.13638C>T	CCDS58065.1																																																																																				0.662	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		12	25	0	0	0	0.00245	0	12	25				
ACTN2	88	broad.mit.edu	37	1	236891020	236891020	+	Missense_Mutation	SNP	C	C	G	rs397516581		TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr1:236891020C>G	ENST00000366578.4	+	6	745	c.579C>G	c.(577-579)caC>caG	p.H193Q	ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Missense_Mutation_p.H193Q	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	193	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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)			TCCACCGACACCGGCCTGACC	0.542																																							uc001hyf.2		NA																	0				ovary(4)|skin(1)	5						c.(577-579)CAC>CAG		actinin, alpha 2							167.0	136.0	147.0					1																	236891020		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.chr1:236891020C>G	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.579C>G	1.37:g.236891020C>G	ENSP00000355537:p.His193Gln					ACTN2_uc001hyg.2_5'UTR|ACTN2_uc009xgi.1_Missense_Mutation_p.H193Q	p.H193Q	NM_001103	NP_001094	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		6	783	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	193			CH 2.|Actin-binding.		B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	c.579C>G	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.924588	0.73213	.	.	ENSG00000077522	ENST00000542672;ENST00000366578	D;D	0.95001	-3.58;-3.58	5.27	3.04	0.35103	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.96719	0.8929	M	0.84948	2.725	0.80722	D	1	D;P	0.69078	0.997;0.89	D;D	0.70227	0.968;0.958	D	0.96491	0.9364	10	0.87932	D	0	.	10.1559	0.42823	0.0:0.7596:0.0:0.2404	.	193;193	B2RCS5;P35609	.;ACTN2_HUMAN	Q	193	ENSP00000443495:H193Q;ENSP00000355537:H193Q	ENSP00000355537:H193Q	H	+	3	2	ACTN2	234957643	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.191000	0.42640	1.209000	0.43321	0.462000	0.41574	CAC		0.542	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		11	65	0	0	0	0.010729	0	11	65				
OR2M5	127059	broad.mit.edu	37	1	248309230	248309230	+	Missense_Mutation	SNP	C	C	T	rs540211211	byFrequency	TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr1:248309230C>T	ENST00000366476.1	+	1	781	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R261R(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			CATGTACATACGGCCCACATC	0.517													c|||	2	0.000399361	0.0	0.0	5008	,	,		18141	0.0		0.0	False		,,,				2504	0.002						uc010pze.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|kidney(1)	3						c.(781-783)CGG>TGG		olfactory receptor, family 2, subfamily M,							202.0	183.0	189.0					1																	248309230		2203	4300	6503	SO:0001583	missense	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248309230C>T		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.781C>T	1.37:g.248309230C>T	ENSP00000355432:p.Arg261Trp						p.R261W	NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		1	781	+	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)		261			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000366476.1	37	c.781C>T	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	c	9.354	1.066334	0.20067	.	.	ENSG00000162727	ENST00000366476	T	0.37915	1.17	3.28	-0.8	0.10897	GPCR, rhodopsin-like superfamily (1);	0.725918	0.10711	U	0.642863	T	0.34250	0.0891	M	0.80847	2.515	0.09310	N	1	B	0.16603	0.018	B	0.22601	0.04	T	0.42068	-0.9473	10	0.41790	T	0.15	.	1.6407	0.02752	0.4252:0.3024:0.1236:0.1488	.	261	A3KFT3	OR2M5_HUMAN	W	261	ENSP00000355432:R261W	ENSP00000355432:R261W	R	+	1	2	OR2M5	246375853	0.000000	0.05858	0.011000	0.14972	0.028000	0.11728	-0.616000	0.05591	-0.423000	0.07394	0.492000	0.49549	CGG		0.517	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		28	156	0	0	0	0.012213	0	28	156				
AKR1C4	1109	broad.mit.edu	37	10	5255089	5255089	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr10:5255089C>A	ENST00000380448.1	+	9	1066	c.813C>A	c.(811-813)agC>agA	p.S271R	AKR1C4_ENST00000263126.1_Missense_Mutation_p.S271R			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	271					androgen metabolic process (GO:0008209)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase activity (GO:0047023)|bile acid transmembrane transporter activity (GO:0015125)|chlordecone reductase activity (GO:0047743)|electron carrier activity (GO:0009055)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|retinal dehydrogenase activity (GO:0001758)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18						TGGCCAAGAGCTACAATGAGC	0.547																																							uc001ihw.2		NA																	0				ovary(1)	1						c.(811-813)AGC>AGA		aldo-keto reductase family 1, member C4	NADH(DB00157)						117.0	98.0	104.0					10																	5255089		2203	4300	6503	SO:0001583	missense	1109				androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity	g.chr10:5255089C>A	M33375	CCDS7064.1	10p15.1	2012-12-04	2012-12-04		ENSG00000198610	ENSG00000198610	1.1.1.225	"""Aldo-keto reductases"""	387	protein-coding gene	gene with protein product	"""chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4"""	600451	"""aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4)"""	CHDR		7789999	Standard	NM_001818		Approved	DD4, HAKRA, C11, 3-alpha-HSD, CDR, MGC22581	uc001ihw.2	P17516	OTTHUMG00000017591	ENST00000380448.1:c.813C>A	10.37:g.5255089C>A	ENSP00000369814:p.Ser271Arg						p.S271R	NM_001818	NP_001809	P17516	AK1C4_HUMAN			7	846	+			271			NADP.		Q5T6A3|Q8WW84|Q9NS54	Missense_Mutation	SNP	ENST00000380448.1	37	c.813C>A	CCDS7064.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.814089	0.50527	.	.	ENSG00000198610	ENST00000380448;ENST00000263126	T;T	0.26518	1.73;1.73	3.3	-1.04	0.10068	Aldo/keto reductase, conserved site (1);NADP-dependent oxidoreductase domain (3);	0.000000	0.64402	D	0.000001	T	0.58637	0.2136	H	0.98487	4.245	0.38700	D	0.952974	D	0.54047	0.964	D	0.64144	0.922	T	0.65569	-0.6136	10	0.87932	D	0	.	8.1767	0.31285	0.0:0.7341:0.0:0.2659	.	271	P17516	AK1C4_HUMAN	R	271	ENSP00000369814:S271R;ENSP00000263126:S271R	ENSP00000263126:S271R	S	+	3	2	AKR1C4	5245089	1.000000	0.71417	0.738000	0.30950	0.886000	0.51366	0.633000	0.24598	-0.153000	0.11137	0.313000	0.20887	AGC		0.547	AKR1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046543.2	NM_001818		16	44	1	0	1.15919e-05	0.008871	1.329e-05	16	44				
TUBAL3	79861	broad.mit.edu	37	10	5435580	5435580	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr10:5435580C>T	ENST00000380419.3	-	4	1278	c.1241G>A	c.(1240-1242)tGg>tAg	p.W414*	TUBAL3_ENST00000479328.1_Nonsense_Mutation_p.W374*	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	414					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						TCTGAGGTACCAGTGCAGAAA	0.557																																							uc001ihy.2		NA																	0				skin(1)	1						c.(1240-1242)TGG>TAG		tubulin, alpha-like 3							91.0	82.0	85.0					10																	5435580		2203	4300	6503	SO:0001587	stop_gained	79861				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr10:5435580C>T	AK025318	CCDS7066.2, CCDS53491.1	10p15.1	2007-03-15			ENSG00000178462	ENSG00000178462		"""Tubulins"""	23534	protein-coding gene	gene with protein product							Standard	NM_024803		Approved	FLJ21665	uc001ihy.3	A6NHL2	OTTHUMG00000017595	ENST00000380419.3:c.1241G>A	10.37:g.5435580C>T	ENSP00000369784:p.Trp414*					TUBAL3_uc001ihz.2_Nonsense_Mutation_p.W374*	p.W414*	NM_024803	NP_079079	A6NHL2	TBAL3_HUMAN			4	1281	-			414					B4DKL2|Q4QQJ5|Q9H6Z0	Nonsense_Mutation	SNP	ENST00000380419.3	37	c.1241G>A	CCDS7066.2	.	.	.	.	.	.	.	.	.	.	C	29.9	5.049347	0.93740	.	.	ENSG00000178462	ENST00000380419;ENST00000479328	.	.	.	4.3	3.38	0.38709	.	0.000000	0.49916	D	0.000137	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.9236	0.58247	0.164:0.836:0.0:0.0	.	.	.	.	X	414;374	.	ENSP00000369784:W414X	W	-	2	0	TUBAL3	5425580	1.000000	0.71417	0.991000	0.47740	0.986000	0.74619	5.893000	0.69798	1.100000	0.41517	0.650000	0.86243	TGG		0.557	TUBAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046548.2	NM_024803		8	25	0	0	0	0.00308	0	8	25				
EPC1	80314	broad.mit.edu	37	10	32576084	32576084	+	Missense_Mutation	SNP	T	T	C	rs149122944	byFrequency	TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr10:32576084T>C	ENST00000263062.8	-	7	1363	c.1094A>G	c.(1093-1095)aAt>aGt	p.N365S	EPC1_ENST00000375110.2_Missense_Mutation_p.N315S|EPC1_ENST00000319778.6_Missense_Mutation_p.N365S	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	365					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				ATCTTTAGCATTGAAGACTGG	0.473													T|||	4	0.000798722	0.0023	0.0	5008	,	,		17532	0.0		0.001	False		,,,				2504	0.0						uc001iwg.1		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(1093-1095)AAT>AGT		enhancer of polycomb 1		T	SER/ASN	11,4395	19.1+/-41.9	0,11,2192	157.0	141.0	146.0		1094	0.5	0.8	10	dbSNP_134	146	2,8598	2.2+/-6.3	0,2,4298	yes	missense	EPC1	NM_025209.2	46	0,13,6490	CC,CT,TT		0.0233,0.2497,0.1	benign	365/837	32576084	13,12993	2203	4300	6503	SO:0001583	missense	80314				histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex		g.chr10:32576084T>C	AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616			19876	protein-coding gene	gene with protein product		610999				10976108	Standard	NM_025209		Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000263062.8:c.1094A>G	10.37:g.32576084T>C	ENSP00000263062:p.Asn365Ser					EPC1_uc001iwi.3_Missense_Mutation_p.N315S|EPC1_uc009xlt.2_Missense_Mutation_p.N315S|EPC1_uc001iwh.1_Missense_Mutation_p.N365S	p.N365S	NM_025209	NP_079485	Q9H2F5	EPC1_HUMAN			7	1364	-		Prostate(175;0.0199)	365					B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Missense_Mutation	SNP	ENST00000263062.8	37	c.1094A>G	CCDS7172.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	T	11.90	1.776739	0.31411	0.002497	2.33E-4	ENSG00000120616	ENST00000375110;ENST00000319778;ENST00000263062	T;T;T	0.18960	2.18;2.18;2.18	5.59	0.494	0.16884	.	0.171345	0.64402	N	0.000007	T	0.13157	0.0319	L	0.33485	1.01	0.41023	D	0.985091	B;B;B;B	0.18013	0.025;0.005;0.0;0.024	B;B;B;B	0.23574	0.047;0.006;0.017;0.034	T	0.13335	-1.0513	10	0.29301	T	0.29	-2.0794	6.0359	0.19708	0.0:0.2071:0.1264:0.6665	.	365;315;365;365	B8XCX7;Q9H2F5-3;Q9H2F5-2;Q9H2F5	.;.;.;EPC1_HUMAN	S	315;365;365	ENSP00000364251:N315S;ENSP00000318559:N365S;ENSP00000263062:N365S	ENSP00000263062:N365S	N	-	2	0	EPC1	32616090	0.998000	0.40836	0.794000	0.32065	0.765000	0.43378	1.020000	0.30027	-0.148000	0.11234	0.455000	0.32223	AAT		0.473	EPC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047484.1			12	47	0	0	0	0.003163	0	12	47				
ANKRD30A	91074	broad.mit.edu	37	10	37431050	37431050	+	Missense_Mutation	SNP	G	G	C	rs201391167		TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr10:37431050G>C	ENST00000602533.1	+	7	1156	c.1057G>C	c.(1057-1059)Gca>Cca	p.A353P	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.A353P|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A353P			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	409					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A353P(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATTTACGTGGGCAGCAAAAGG	0.408																																							uc001iza.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|breast(1)|skin(1)	9						c.(1057-1059)GCA>CCA		ankyrin repeat domain 30A							102.0	102.0	102.0					10																	37431050		1853	4086	5939	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37431050G>C	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1057G>C	10.37:g.37431050G>C	ENSP00000473551:p.Ala353Pro						p.A353P	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			7	1156	+			409					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.1057G>C		.	.	.	.	.	.	.	.	.	.	.	2.178	-0.388156	0.04932	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.39592	1.19;1.07	.	.	.	.	.	.	.	.	T	0.28300	0.0699	N	0.08118	0	0.09310	N	1	P	0.48350	0.909	P	0.51297	0.665	T	0.16188	-1.0411	7	0.33141	T	0.24	.	.	.	.	.	409	Q9BXX3	AN30A_HUMAN	P	353	ENSP00000354432:A353P;ENSP00000363792:A353P	ENSP00000354432:A353P	A	+	1	0	ANKRD30A	37471056	0.782000	0.28689	0.179000	0.23059	0.179000	0.23085	-0.616000	0.05591	0.088000	0.17205	0.089000	0.15464	GCA		0.408	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		3	46	0	0	0	0.009096	0	3	46				
SLC18A3	6572	broad.mit.edu	37	10	50820222	50820222	+	Missense_Mutation	SNP	G	G	T	rs563318974		TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr10:50820222G>T	ENST00000374115.3	+	1	1876	c.1436G>T	c.(1435-1437)cGt>cTt	p.R479L	CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000455728.2_5'Flank|CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	479					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						ACGCGCTCCCGTTCCGAGCGC	0.657													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19337	0.0		0.0	False		,,,				2504	0.0						uc001jhw.2		NA																	0				ovary(2)	2						c.(1435-1437)CGT>CTT		vesicular acetylcholine transporter							64.0	52.0	56.0					10																	50820222		2203	4300	6503	SO:0001583	missense	6572				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	g.chr10:50820222G>T	BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"""Solute carriers"""	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.1436G>T	10.37:g.50820222G>T	ENSP00000363229:p.Arg479Leu					CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank	p.R479L	NM_003055	NP_003046	Q16572	VACHT_HUMAN			1	1876	+			479			Cytoplasmic (Potential).		B2R7S1	Missense_Mutation	SNP	ENST00000374115.3	37	c.1436G>T	CCDS7231.1	.	.	.	.	.	.	.	.	.	.	G	7.433	0.639112	0.14386	.	.	ENSG00000187714	ENST00000374115	T	0.04809	3.55	4.87	4.87	0.63330	Major facilitator superfamily domain (1);	0.271786	0.37261	U	0.002179	T	0.04907	0.0132	L	0.47716	1.5	0.25021	N	0.991335	B	0.09022	0.002	B	0.06405	0.002	T	0.29941	-0.9995	10	0.29301	T	0.29	-15.3145	6.3453	0.21345	0.2355:0.0:0.7645:0.0	.	479	Q16572	VACHT_HUMAN	L	479	ENSP00000363229:R479L	ENSP00000363229:R479L	R	+	2	0	SLC18A3	50490228	1.000000	0.71417	0.996000	0.52242	0.709000	0.40893	3.322000	0.52007	2.262000	0.75019	0.561000	0.74099	CGT		0.657	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	NM_003055		7	22	1	0	0.00198382	0.001984	0.00212552	7	22				
PSD	5662	broad.mit.edu	37	10	104176511	104176511	+	Silent	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr10:104176511C>A	ENST00000020673.5	-	2	811	c.285G>T	c.(283-285)ggG>ggT	p.G95G	PSD_ENST00000406432.1_Silent_p.G95G|PSD_ENST00000492902.2_5'UTR	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	95	Pro-rich.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		AGCTCTGGGCCCCGGGTGGGG	0.657																																							uc001kvg.1		NA																	0				breast(2)|urinary_tract(1)	3						c.(283-285)GGG>GGT		pleckstrin and Sec7 domain containing							31.0	41.0	37.0					10																	104176511		2198	4292	6490	SO:0001819	synonymous_variant	5662				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr10:104176511C>A	X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"""Pleckstrin homology (PH) domain containing"""	9507	protein-coding gene	gene with protein product		602327	"""pleckstrin and Sec7 domain protein"""			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.285G>T	10.37:g.104176511C>A						PSD_uc001kvh.1_Intron|PSD_uc009xxd.1_Silent_p.G95G|PSD_uc001kvi.1_Silent_p.G95G|FBXL15_uc001kvj.1_5'Flank	p.G95G	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN		Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)	2	812	-			95			Pro-rich.		B1AKX7|D3DR87|Q15673|Q8IVG0	Silent	SNP	ENST00000020673.5	37	c.285G>T	CCDS31272.1																																																																																				0.657	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2			20	36	1	0	1.96895e-08	0.00278	2.54972e-08	20	36				
PCGF6	84108	broad.mit.edu	37	10	105110554	105110554	+	Silent	SNP	C	C	T	rs375327410		TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr10:105110554C>T	ENST00000369847.3	-	1	337	c.270G>A	c.(268-270)ctG>ctA	p.L90L	PCGF6_ENST00000337211.4_Silent_p.L90L|PCGF6_ENST00000490296.1_5'UTR	NM_001011663.1	NP_001011663.1	Q9BYE7	PCGF6_HUMAN	polycomb group ring finger 6	90	Glu-rich.				negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)	8		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205)		cttcctcctccagctcctctt	0.642																																							uc001kwt.2		NA																	0				kidney(1)	1						c.(268-270)CTG>CTA		polycomb group ring finger 6 isoform a		C	,	2,4382		0,2,2190	14.0	13.0	13.0		270,270	2.5	1.0	10		13	0,8596		0,0,4298	no	coding-synonymous,coding-synonymous	PCGF6	NM_001011663.1,NM_032154.3	,	0,2,6488	TT,TC,CC		0.0,0.0456,0.0154	,	90/351,90/276	105110554	2,12978	2192	4298	6490	SO:0001819	synonymous_variant	84108				negative regulation of transcription, DNA-dependent	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:105110554C>T	AB047006	CCDS7546.1, CCDS31275.1	10q24.33	2013-01-09	2005-01-17	2005-01-19	ENSG00000156374	ENSG00000156374		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	21156	protein-coding gene	gene with protein product		607816	"""ring finger protein 134"""	RNF134		12167161	Standard	NM_032154		Approved	MBLR	uc001kwt.3	Q9BYE7	OTTHUMG00000018982	ENST00000369847.3:c.270G>A	10.37:g.105110554C>T						PCGF6_uc001kwu.2_Silent_p.L90L|PCGF6_uc009xxk.2_RNA|PCGF6_uc009xxl.2_RNA|PCGF6_uc009xxm.2_RNA	p.L90L	NM_001011663	NP_001011663	Q9BYE7	PCGF6_HUMAN		Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205)	1	338	-		Colorectal(252;0.0747)|Breast(234;0.128)	90			Potential.|Glu-rich.		A8K3R4|Q5SYD1|Q5SYD6|Q96ID9|Q96SJ1	Silent	SNP	ENST00000369847.3	37	c.270G>A	CCDS31275.1																																																																																				0.642	PCGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050132.1	NM_032154		2	3	0	0	0	0.004672	0	2	3				
SORCS3	22986	broad.mit.edu	37	10	106737227	106737227	+	Silent	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr10:106737227G>T	ENST00000369701.3	+	4	1157	c.930G>T	c.(928-930)gtG>gtT	p.V310V		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	310					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)		AGGACTGGGTGCTGGCCTACA	0.443																																					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.(928-930)GTG>GTT		VPS10 domain receptor protein SORCS 3 precursor							103.0	94.0	97.0					10																	106737227		2203	4300	6503	SO:0001819	synonymous_variant	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106737227G>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.930G>T	10.37:g.106737227G>T							p.V310V	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)	4	1157	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	310			Lumenal (Potential).		Q5VXF9|Q9NQJ2	Silent	SNP	ENST00000369701.3	37	c.930G>T	CCDS7558.1																																																																																				0.443	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		8	22	1	0	3.07112e-06	0.010729	3.66093e-06	8	22				
CHST15	51363	broad.mit.edu	37	10	125798150	125798150	+	Silent	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr10:125798150G>T	ENST00000346248.5	-	5	1713	c.1071C>A	c.(1069-1071)gcC>gcA	p.A357A	CHST15_ENST00000435907.1_Silent_p.A357A|CHST15_ENST00000421115.1_Silent_p.A357A	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	357					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						AGAACGTCCAGGCATTATTAT	0.547																																							uc001lhl.2		NA																	0				ovary(1)	1						c.(1069-1071)GCC>GCA		B cell RAG associated protein							106.0	87.0	93.0					10																	125798150		2203	4300	6503	SO:0001819	synonymous_variant	51363				hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity	g.chr10:125798150G>T	AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"""Sulfotransferases, membrane-bound"""	18137	protein-coding gene	gene with protein product	"""B cell RAG associated protein"", ""N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"""	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.1071C>A	10.37:g.125798150G>T						CHST15_uc001lhm.2_Silent_p.A357A|CHST15_uc001lhn.2_Silent_p.A357A|CHST15_uc010que.1_Silent_p.A357A|CHST15_uc001lho.2_Silent_p.A357A	p.A357A	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN			4	1584	-			357			Lumenal (Potential).		O60338|O60474|Q86VM4	Silent	SNP	ENST00000346248.5	37	c.1071C>A	CCDS7638.1																																																																																				0.547	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050856.1	NM_015892		10	29	1	0	2.80697e-09	0.010729	3.71511e-09	10	29				
STK32C	282974	broad.mit.edu	37	10	134040358	134040358	+	Silent	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr10:134040358C>A	ENST00000368622.1	-	4	615	c.234G>T	c.(232-234)ctG>ctT	p.L78L	STK32C_ENST00000368625.4_Silent_p.L208L					serine/threonine kinase 32C											breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		CGCAGATGTACAGCCTCACCG	0.627																																							uc001lle.1		NA																	0				large_intestine(2)|lung(2)|breast(1)	5						c.(583-585)CTG>CTT		serine/threonine kinase 32C							153.0	107.0	122.0					10																	134040358		2203	4300	6503	SO:0001819	synonymous_variant	282974						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr10:134040358C>A	AK057849	CCDS7666.1	10q26.3	2004-07-22			ENSG00000165752	ENSG00000165752			21332	protein-coding gene	gene with protein product							Standard	NM_173575		Approved	PKE, MGC23665, YANK3	uc001lle.1	Q86UX6	OTTHUMG00000019285	ENST00000368622.1:c.234G>T	10.37:g.134040358C>A						STK32C_uc001lld.1_Silent_p.L78L|STK32C_uc010quu.1_Silent_p.L208L|STK32C_uc009ybc.1_Silent_p.L78L|STK32C_uc009ybd.1_Silent_p.L78L|STK32C_uc001llb.2_5'UTR|STK32C_uc001llc.1_RNA	p.L195L	NM_173575	NP_775846	Q86UX6	ST32C_HUMAN		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)	4	725	-		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)	195			Protein kinase.			Silent	SNP	ENST00000368622.1	37	c.585G>T		.	.	.	.	.	.	.	.	.	.	C	12.10	1.835939	0.32421	.	.	ENSG00000165752	ENST00000368620	.	.	.	4.82	1.39	0.22231	.	.	.	.	.	T	0.57242	0.2040	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54105	-0.8343	4	.	.	.	.	9.8125	0.40831	0.2281:0.4342:0.3377:0.0	.	.	.	.	L	266	.	.	V	-	1	0	STK32C	133890348	0.862000	0.29867	1.000000	0.80357	0.900000	0.52787	-0.141000	0.10327	1.012000	0.39366	0.460000	0.39030	GTA		0.627	STK32C-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000051068.2	NM_173575		16	37	1	0	5.3912e-06	0.006122	6.38432e-06	16	37				
CNGA4	1262	broad.mit.edu	37	11	6260686	6260686	+	Silent	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr11:6260686C>A	ENST00000379936.2	+	2	250	c.135C>A	c.(133-135)gtC>gtA	p.V45V	CNGA4_ENST00000533426.1_Silent_p.V5V	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	45					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)		TCTTCCCAGTCATGTATAACC	0.498																																							uc001mco.2		NA																	0				skin(1)	1						c.(133-135)GTC>GTA		cyclic nucleotide gated channel alpha 4							202.0	205.0	204.0					11																	6260686		2201	4296	6497	SO:0001819	synonymous_variant	1262				response to stimulus|sensory perception of smell		cAMP binding	g.chr11:6260686C>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.135C>A	11.37:g.6260686C>A						CNGA4_uc010raa.1_Silent_p.V5V|CNGA4_uc001mcn.2_Silent_p.V5V	p.V45V	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	242	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	45			Helical; Name=H1; (Potential).			Silent	SNP	ENST00000379936.2	37	c.135C>A	CCDS31408.1																																																																																				0.498	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383765.2	NM_001037329		35	92	1	0	1.67305e-13	0.00623	2.46843e-13	35	92				
CKAP5	9793	broad.mit.edu	37	11	46772739	46772739	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr11:46772739T>C	ENST00000529230.1	-	40	5435	c.5389A>G	c.(5389-5391)Atg>Gtg	p.M1797V	CKAP5_ENST00000415402.1_Missense_Mutation_p.M1804V|CKAP5_ENST00000312055.5_Missense_Mutation_p.M1737V|CKAP5_ENST00000354558.3_Missense_Mutation_p.M1737V|MIR5582_ENST00000579697.1_RNA			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1797					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TGCTTCATCATCCGGCAGAGA	0.502																																					Ovarian(4;85 273 2202 4844 13323)	Ovarian(4;85 273 2202 4844 13323)	uc001ndi.1		NA																	0				ovary(1)|skin(1)	2						c.(5389-5391)ATG>GTG		colonic and hepatic tumor over-expressed protein							152.0	133.0	139.0					11																	46772739		2201	4299	6500	SO:0001583	missense	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding	g.chr11:46772739T>C		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.5389A>G	11.37:g.46772739T>C	ENSP00000432768:p.Met1797Val					CKAP5_uc009ylg.1_Missense_Mutation_p.M1690V|CKAP5_uc001ndj.1_Missense_Mutation_p.M1737V|CKAP5_uc001ndh.1_Missense_Mutation_p.M726V	p.M1797V	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN			40	5499	-			1797					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	ENST00000529230.1	37	c.5389A>G	CCDS31477.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	3.409|3.409	-0.120536|-0.120536	0.06838|0.06838	.|.	.|.	ENSG00000175216|ENSG00000175216	ENST00000525896|ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558	.|T;T;T;T	.|0.39592	.|1.08;1.07;1.09;1.09	5.87|5.87	4.68|4.68	0.58851|0.58851	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.183825	.|0.56097	.|D	.|0.000024	T|T	0.08133|0.08133	0.0203|0.0203	N|N	0.00289|0.00289	-1.7|-1.7	0.27148|0.27148	N|N	0.961494|0.961494	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.01281	.|0.0;0.0;0.0	T|T	0.32613|0.32613	-0.9900|-0.9900	5|10	.|0.09590	.|T	.|0.72	-3.4057|-3.4057	0.7292|0.7292	0.00954|0.00954	0.1738:0.1627:0.182:0.4814|0.1738:0.1627:0.182:0.4814	.|.	.|1804;1737;1797	.|Q14008-3;Q14008-2;Q14008	.|.;.;CKAP5_HUMAN	G|V	35|1797;1804;1737;1737	.|ENSP00000432768:M1797V;ENSP00000395302:M1804V;ENSP00000310227:M1737V;ENSP00000346566:M1737V	.|ENSP00000310227:M1737V	D|M	-|-	2|1	0|0	CKAP5|CKAP5	46729315|46729315	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.267000|3.267000	0.51577|0.51577	2.239000|2.239000	0.73571|0.73571	0.528000|0.528000	0.53228|0.53228	GAT|ATG		0.502	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		9	34	0	0	0	0.008291	0	9	34				
OR4A16	81327	broad.mit.edu	37	11	55110862	55110862	+	Silent	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr11:55110862C>A	ENST00000314721.2	+	1	236	c.186C>A	c.(184-186)gcC>gcA	p.A62A		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	62						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TCTTCCTTGCCTACTTGTCAC	0.428																																							uc010rie.1		NA																	0				large_intestine(2)|pancreas(1)	3						c.(184-186)GCC>GCA		olfactory receptor, family 4, subfamily A,							175.0	162.0	167.0					11																	55110862		2201	4296	6497	SO:0001819	synonymous_variant	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55110862C>A	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"""GPCR / Class A : Olfactory receptors"""	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.186C>A	11.37:g.55110862C>A							p.A62A	NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN			1	186	+			62			Helical; Name=2; (Potential).		Q6IFL3	Silent	SNP	ENST00000314721.2	37	c.186C>A	CCDS31499.1																																																																																				0.428	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		35	80	1	0	1.02591e-13	0.010771	1.52614e-13	35	80				
OR8K5	219453	broad.mit.edu	37	11	55927730	55927730	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr11:55927730C>A	ENST00000313447.1	-	1	63	c.64G>T	c.(64-66)Gag>Tag	p.E22*		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				ATCTGCAGCTCAGGCCGCCTT	0.453																																							uc010rja.1		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(64-66)GAG>TAG		olfactory receptor, family 8, subfamily K,							132.0	128.0	129.0					11																	55927730		2201	4296	6497	SO:0001587	stop_gained	219453				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55927730C>A	BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"""GPCR / Class A : Olfactory receptors"""	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.64G>T	11.37:g.55927730C>A	ENSP00000323853:p.Glu22*						p.E22*	NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN			1	64	-	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)	22			Extracellular (Potential).		Q6IFB5	Nonsense_Mutation	SNP	ENST00000313447.1	37	c.64G>T	CCDS31521.1	.	.	.	.	.	.	.	.	.	.	C	7.559	0.664237	0.14710	.	.	ENSG00000181752	ENST00000313447	.	.	.	3.87	3.87	0.44632	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	6.3167	0.21194	0.0:0.7039:0.1904:0.1057	.	.	.	.	X	22	.	ENSP00000323853:E22X	E	-	1	0	OR8K5	55684306	0.000000	0.05858	0.436000	0.26797	0.039000	0.13416	-0.268000	0.08607	2.151000	0.67156	0.560000	0.71715	GAG		0.453	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391543.1	NM_001004058		20	50	1	0	1.96895e-08	0.00278	2.54972e-08	20	50				
OR8H1	219469	broad.mit.edu	37	11	56058108	56058108	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr11:56058108A>G	ENST00000313022.2	-	1	458	c.431T>C	c.(430-432)gTc>gCc	p.V144A		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	144						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)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					GGGCCCAGTGACAAGAGCGCA	0.438																																							uc010rje.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(430-432)GTC>GCC		olfactory receptor, family 8, subfamily H,							86.0	82.0	84.0					11																	56058108		2201	4296	6497	SO:0001583	missense	219469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56058108A>G	AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"""GPCR / Class A : Olfactory receptors"""	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.431T>C	11.37:g.56058108A>G	ENSP00000323595:p.Val144Ala						p.V144A	NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN			1	431	-	Esophageal squamous(21;0.00448)		144			Helical; Name=4; (Potential).		B2RNI7|Q6IFC5	Missense_Mutation	SNP	ENST00000313022.2	37	c.431T>C	CCDS31526.1	.	.	.	.	.	.	.	.	.	.	A	5.188	0.220258	0.09863	.	.	ENSG00000181693	ENST00000313022;ENST00000395186	T	0.39056	1.1	2.98	2.98	0.34508	GPCR, rhodopsin-like superfamily (1);	0.862286	0.10035	N	0.724134	T	0.27454	0.0674	L	0.31207	0.915	0.09310	N	1	B	0.17852	0.024	B	0.23150	0.044	T	0.20273	-1.0280	10	0.21540	T	0.41	.	4.0018	0.09584	0.7878:0.0:0.2122:0.0	.	144	Q8NGG4	OR8H1_HUMAN	A	144;140	ENSP00000323595:V144A	ENSP00000323595:V144A	V	-	2	0	OR8H1	55814684	0.000000	0.05858	0.005000	0.12908	0.014000	0.08584	0.356000	0.20181	1.605000	0.50152	0.366000	0.22137	GTC		0.438	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370019.1	NM_001005199		7	24	0	0	0	0.00308	0	7	24				
OR8K3	219473	broad.mit.edu	37	11	56086307	56086307	+	Silent	SNP	T	T	C			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr11:56086307T>C	ENST00000312711.1	+	1	525	c.525T>C	c.(523-525)agT>agC	p.S175S		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					ACGTCATTAGTCATTTCTACT	0.353																																							uc010rjf.1		NA																	0				ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(523-525)AGT>AGC		olfactory receptor, family 8, subfamily K,							98.0	101.0	100.0					11																	56086307		2201	4296	6497	SO:0001819	synonymous_variant	219473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56086307T>C	AB065541	CCDS31527.1	11q11	2012-08-09			ENSG00000181689	ENSG00000181689		"""GPCR / Class A : Olfactory receptors"""	15313	protein-coding gene	gene with protein product							Standard	NM_001005202		Approved		uc010rjf.2	Q8NH51	OTTHUMG00000166855	ENST00000312711.1:c.525T>C	11.37:g.56086307T>C							p.S175S	NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN			1	525	+	Esophageal squamous(21;0.00448)		175			Extracellular (Potential).		Q6IFC4	Silent	SNP	ENST00000312711.1	37	c.525T>C	CCDS31527.1																																																																																				0.353	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391602.1	NM_001005202		16	27	0	0	0	0.008871	0	16	27				
MS4A4A	51338	broad.mit.edu	37	11	60059762	60059762	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr11:60059762G>A	ENST00000337908.4	+	2	196	c.106G>A	c.(106-108)Ggt>Agt	p.G36S	MS4A4A_ENST00000532114.1_Missense_Mutation_p.G36S|MS4A4A_ENST00000395016.3_Missense_Mutation_p.G17S|MS4A4A_ENST00000355131.3_Missense_Mutation_p.G17S	NM_148975.2	NP_683876.1	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	36						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						GGCTGGCCCTGGTGTGCCCCA	0.488																																							uc001noz.2		NA																	0					0						c.(106-108)GGT>AGT		membrane-spanning 4-domains, subfamily A, member							74.0	75.0	75.0					11																	60059762		2203	4300	6503	SO:0001583	missense	51338					integral to membrane	receptor activity	g.chr11:60059762G>A	AB013102	CCDS7982.1, CCDS58135.1	11q12	2012-02-28	2012-02-28		ENSG00000110079	ENSG00000110079			13371	protein-coding gene	gene with protein product		606547	"""membrane-spanning 4-domains, subfamily A, member 4"""	MS4A4		11245982, 11401424	Standard	NM_148975		Approved	CD20L1, MS4A7	uc001noz.3	Q96JQ5	OTTHUMG00000154949	ENST00000337908.4:c.106G>A	11.37:g.60059762G>A	ENSP00000338648:p.Gly36Ser					MS4A4A_uc001npa.2_Missense_Mutation_p.G17S|MS4A4A_uc001npb.2_Missense_Mutation_p.G17S|MS4A4A_uc001npc.2_Missense_Mutation_p.G17S	p.G36S	NM_148975	NP_683876	Q96JQ5	M4A4A_HUMAN			2	116	+			36			Cytoplasmic (Potential).		Q8TEZ6|Q96PG7|Q9BY18|Q9H3V3|Q9P1S3	Missense_Mutation	SNP	ENST00000337908.4	37	c.106G>A	CCDS7982.1	.	.	.	.	.	.	.	.	.	.	g	7.580	0.668636	0.14776	.	.	ENSG00000110079	ENST00000532114;ENST00000337908;ENST00000355131;ENST00000395016	T;T;T;T	0.17213	2.29;3.18;3.19;3.19	2.72	0.807	0.18714	.	0.202436	0.17405	U	0.175385	T	0.12305	0.0299	L	0.55990	1.75	0.09310	N	1	P;B	0.34462	0.454;0.144	B;B	0.30572	0.117;0.021	T	0.18493	-1.0335	10	0.26408	T	0.33	-0.2606	4.6723	0.12694	0.3158:0.0:0.6842:0.0	.	36;36	Q96JQ5-2;Q96JQ5	.;M4A4A_HUMAN	S	36;36;17;17	ENSP00000434506:G36S;ENSP00000338648:G36S;ENSP00000347252:G17S;ENSP00000378462:G17S	ENSP00000338648:G36S	G	+	1	0	MS4A4A	59816338	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	0.075000	0.14686	0.221000	0.20879	0.460000	0.39030	GGT		0.488	MS4A4A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337774.2			19	43	0	0	0	0.004656	0	19	43				
NOX4	50507	broad.mit.edu	37	11	89069012	89069012	+	Splice_Site	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr11:89069012C>A	ENST00000263317.4	-	17	1855		c.e17+1		NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000531342.1_Splice_Site|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000525196.1_Splice_Site|NOX4_ENST00000535633.1_Splice_Site|NOX4_ENST00000375979.3_Splice_Site			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4						bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				ATAGTACTTACCCTCTGTTAT	0.279																																							uc001pct.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.e17+1		NADPH oxidase 4 isoform a							53.0	54.0	54.0					11																	89069012		2201	4294	6495	SO:0001630	splice_region_variant	50507				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	g.chr11:89069012C>A	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.1616+1G>T	11.37:g.89069012C>A						NOX4_uc009yvr.2_Splice_Site_p.G514_splice|NOX4_uc001pcu.2_Splice_Site_p.G465_splice|NOX4_uc001pcw.2_Splice_Site_p.G232_splice|NOX4_uc001pcx.2_Splice_Site_p.G192_splice|NOX4_uc001pcv.2_Splice_Site_p.G499_splice|NOX4_uc009yvo.2_Splice_Site|NOX4_uc010rtu.1_Splice_Site_p.G352_splice|NOX4_uc009yvp.2_Splice_Site_p.G303_splice|NOX4_uc010rtv.1_Splice_Site_p.G475_splice|NOX4_uc009yvq.2_Splice_Site_p.G515_splice	p.G539_splice	NM_016931	NP_058627	Q9NPH5	NOX4_HUMAN			17	1855	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)						A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Splice_Site	SNP	ENST00000263317.4	37	c.1616_splice	CCDS8285.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.075594	0.55646	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000525196;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000527626;ENST00000528341;ENST00000413594;ENST00000531342;ENST00000375979	.	.	.	4.33	4.33	0.51752	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2061	0.86918	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NOX4	88708660	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	7.042000	0.76565	2.128000	0.65567	0.563000	0.77884	.		0.279	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931	Intron	10	27	1	0	2.17888e-05	0.006214	2.46665e-05	10	27				
FAT3	120114	broad.mit.edu	37	11	92085848	92085848	+	Silent	SNP	T	T	C			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr11:92085848T>C	ENST00000298047.6	+	1	587	c.570T>C	c.(568-570)aaT>aaC	p.N190N	FAT3_ENST00000541502.1_Silent_p.N190N|FAT3_ENST00000525166.1_Silent_p.N40N|FAT3_ENST00000409404.2_Silent_p.N190N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	190	Cadherin 2. {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)				TTGGTTCCAATGGAGAATTCT	0.403										TCGA Ovarian(4;0.039)																													uc001pdj.3		NA																	0				ovary(4)|pancreas(1)	5						c.(568-570)AAT>AAC		FAT tumor suppressor homolog 3							58.0	56.0	57.0					11																	92085848		1857	4102	5959	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92085848T>C	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.570T>C	11.37:g.92085848T>C		TCGA Ovarian(4;0.039)					p.N190N	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			1	587	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	190			Cadherin 2.|Extracellular (Potential).		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.570T>C																																																																																					0.403	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		5	20	0	0	0	0.000602	0	5	20				
GRAMD1B	57476	broad.mit.edu	37	11	123483506	123483506	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr11:123483506G>A	ENST00000529750.1	+	14	1855	c.1528G>A	c.(1528-1530)Ggg>Agg	p.G510R	GRAMD1B_ENST00000450171.2_Missense_Mutation_p.G201R|GRAMD1B_ENST00000456860.2_Missense_Mutation_p.G517R|GRAMD1B_ENST00000322282.7_Missense_Mutation_p.G510R	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	510						integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		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;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		ACAGCCCTGGGGGTTAGTGAA	0.547																																							uc001pyx.2		NA																	0				ovary(1)	1						c.(1528-1530)GGG>AGG		GRAM domain containing 1B							48.0	49.0	49.0					11																	123483506		1915	4129	6044	SO:0001583	missense	57476					integral to membrane		g.chr11:123483506G>A	AB033027	CCDS53720.1, CCDS66253.1, CCDS66254.1	11q24.1	2005-11-02				ENSG00000023171			29214	protein-coding gene	gene with protein product						10574462	Standard	NM_001286564		Approved	KIAA1201	uc001pyx.2	Q3KR37		ENST00000529750.1:c.1528G>A	11.37:g.123483506G>A	ENSP00000436500:p.Gly510Arg					GRAMD1B_uc001pyw.2_Missense_Mutation_p.G517R|GRAMD1B_uc010rzw.1_Missense_Mutation_p.G470R|GRAMD1B_uc010rzx.1_Missense_Mutation_p.G470R|GRAMD1B_uc001pyy.2_Missense_Mutation_p.G201R	p.G510R	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)	14	1857	+		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	510					Q6UW85|Q9ULL9	Missense_Mutation	SNP	ENST00000529750.1	37	c.1528G>A	CCDS53720.1	.	.	.	.	.	.	.	.	.	.	G	33	5.289335	0.95517	.	.	ENSG00000023171	ENST00000539133;ENST00000456860;ENST00000322282;ENST00000529750;ENST00000529432;ENST00000450171	T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.52645	0.1747	M	0.83483	2.645	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.996	D;D;D;D	0.97110	0.98;1.0;0.946;0.969	T	0.54403	-0.8299	10	0.52906	T	0.07	.	19.5764	0.95446	0.0:0.0:1.0:0.0	.	470;201;510;517	B7Z4N9;Q3KR37-3;Q3KR37;E7EPH8	.;.;GRM1B_HUMAN;.	R	517;517;510;510;470;201	ENSP00000402457:G517R;ENSP00000325628:G510R;ENSP00000436500:G510R;ENSP00000432987:G470R;ENSP00000388458:G201R	ENSP00000325628:G510R	G	+	1	0	GRAMD1B	122988716	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.939000	0.87685	2.699000	0.92147	0.563000	0.77884	GGG		0.547	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387404.2	XM_370660		4	13	0	0	0	0.001168	0	4	13				
OPCML	4978	broad.mit.edu	37	11	132307171	132307171	+	Missense_Mutation	SNP	G	G	T	rs560079674		TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr11:132307171G>T	ENST00000331898.7	-	4	1187	c.609C>A	c.(607-609)agC>agA	p.S203R	OPCML_ENST00000541867.1_Missense_Mutation_p.S203R|OPCML_ENST00000374778.4_Missense_Mutation_p.S162R|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000524381.1_Missense_Mutation_p.S196R	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	203	Ig-like C2-type 2.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		CGTTCAACGCGCTGCATTCGT	0.542																																							uc001qgs.2		NA																	0				ovary(2)|skin(1)	3						c.(607-609)AGC>AGA		opioid binding protein/cell adhesion							113.0	97.0	103.0					11																	132307171		2201	4297	6498	SO:0001583	missense	4978				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	g.chr11:132307171G>T	BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"""Immunoglobulin superfamily / I-set domain containing"""	8143	protein-coding gene	gene with protein product	"""IgLON family member 1"""	600632	"""opioid-binding protein/cell adhesion molecule-like"""			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.609C>A	11.37:g.132307171G>T	ENSP00000330862:p.Ser203Arg					OPCML_uc001qgu.2_Missense_Mutation_p.S196R|OPCML_uc010sck.1_Missense_Mutation_p.S203R|OPCML_uc001qgt.2_Missense_Mutation_p.S202R|OPCML_uc010scl.1_Missense_Mutation_p.S162R	p.S203R	NM_002545	NP_002536	Q14982	OPCM_HUMAN		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)	4	659	-	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)	203			Ig-like C2-type 2.		B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Missense_Mutation	SNP	ENST00000331898.7	37	c.609C>A	CCDS8492.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.187843	0.38609	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000416724;ENST00000541867	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	5.6	0.397	0.16314	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.044250	0.85682	D	0.000000	T	0.45895	0.1365	N	0.21583	0.68	0.36423	D	0.864428	B;B;B;B	0.34214	0.442;0.442;0.308;0.308	B;B;B;B	0.37422	0.249;0.249;0.249;0.249	T	0.48636	-0.9018	10	0.56958	D	0.05	-29.7245	8.9658	0.35877	0.4635:0.0:0.5365:0.0	.	203;196;202;203	B7ZLQ1;Q7Z3W6;B7ZLQ0;Q14982	.;.;.;OPCM_HUMAN	R	203;196;162;170;203	ENSP00000330862:S203R;ENSP00000434750:S196R;ENSP00000363910:S162R;ENSP00000445496:S203R	ENSP00000330862:S203R	S	-	3	2	OPCML	131812381	0.953000	0.32496	0.998000	0.56505	0.666000	0.39218	0.061000	0.14366	0.027000	0.15297	0.563000	0.77884	AGC		0.542	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	NM_001012393		13	41	1	0	2.27111e-07	0.013537	2.85874e-07	13	41				
KCNA6	3742	broad.mit.edu	37	12	4920664	4920664	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr12:4920664C>T	ENST00000280684.3	+	1	2323	c.1457C>T	c.(1456-1458)gCg>gTg	p.A486V	RP11-234B24.4_ENST00000542988.1_lincRNA|KCNA6_ENST00000433855.1_Missense_Mutation_p.A486V			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	486					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)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	GGGCAGCCTGCGCCGGACCTG	0.612										HNSCC(72;0.22)																													uc001qng.2		NA																	0				skin(2)|ovary(1)	3						c.(1456-1458)GCG>GTG		potassium voltage-gated channel, shaker-related							102.0	98.0	99.0					12																	4920664		2203	4300	6503	SO:0001583	missense	3742					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:4920664C>T	X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.1457C>T	12.37:g.4920664C>T	ENSP00000280684:p.Ala486Val	HNSCC(72;0.22)					p.A486V	NM_002235	NP_002226	P17658	KCNA6_HUMAN			1	2323	+			486						Missense_Mutation	SNP	ENST00000280684.3	37	c.1457C>T	CCDS8534.1	.	.	.	.	.	.	.	.	.	.	C	3.097	-0.185714	0.06340	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	D;D	0.97138	-4.26;-4.26	5.09	4.12	0.48240	.	1.112850	0.06800	N	0.788560	D	0.93174	0.7826	N	0.19112	0.55	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.81398	-0.0951	10	0.16420	T	0.52	.	13.0392	0.58889	0.0:0.9105:0.0:0.0895	.	486	P17658	KCNA6_HUMAN	V	486	ENSP00000408321:A486V;ENSP00000280684:A486V	ENSP00000280684:A486V	A	+	2	0	KCNA6	4790925	0.004000	0.15560	0.006000	0.13384	0.006000	0.05464	2.027000	0.41078	2.641000	0.89580	0.591000	0.81541	GCG		0.612	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235		15	47	0	0	0	0.007413	0	15	47				
PRR4	11272	broad.mit.edu	37	12	10999791	10999791	+	Silent	SNP	T	T	C			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr12:10999791T>C	ENST00000228811.4	-	3	313	c.276A>G	c.(274-276)caA>caG	p.Q92Q	PRR4_ENST00000544994.1_Intron|PRR4_ENST00000540107.1_Missense_Mutation_p.T35A|PRR4_ENST00000536668.1_5'UTR	NM_007244.2	NP_009175.2	Q16378	PROL4_HUMAN	proline rich 4 (lacrimal)	92	Pro-rich.				retina homeostasis (GO:0001895)|visual perception (GO:0007601)	extracellular space (GO:0005615)				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	9						GGGGTGGTCGTTGCTGATTTT	0.542																																							uc001qyz.3		NA																	0					0						c.(274-276)CAA>CAG		proline rich 4 (lacrimal) isoform 2							244.0	252.0	250.0					12																	10999791		2036	4179	6215	SO:0001819	synonymous_variant	11272				visual perception	extracellular space		g.chr12:10999791T>C		CCDS41756.1, CCDS55804.1	12p13	2008-02-05		2004-05-28		ENSG00000111215			18020	protein-coding gene	gene with protein product		605359		PROL4		7544782	Standard	NM_007244		Approved	LPRP	uc001qyz.4	Q16378		ENST00000228811.4:c.276A>G	12.37:g.10999791T>C						PRR4_uc009zhp.2_Silent_p.Q105Q|PRH1_uc001qzb.3_RNA|PRR4_uc001qza.3_Intron	p.Q92Q	NM_007244	NP_009175	Q16378	PROL4_HUMAN			3	315	-			92			Pro-rich.		A8KA69|F5H0D7|Q8NFB3	Silent	SNP	ENST00000228811.4	37	c.276A>G	CCDS41756.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	3.642|3.642	-0.073390|-0.073390	0.07184|0.07184	.|.	.|.	ENSG00000111215|ENSG00000111215	ENST00000431566|ENST00000540107	.|T	.|0.04049	.|3.72	1.63|1.63	-1.59|-1.59	0.08453|0.08453	.|.	.|.	.|.	.|.	.|.	T|T	0.05960|0.05960	0.0155|0.0155	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.37549|0.37549	-0.9701|-0.9701	5|6	0.87932|0.87932	D|D	0|0	.|.	4.7676|4.7676	0.13139|0.13139	0.0:0.4825:0.0:0.5175|0.0:0.4825:0.0:0.5175	.|.	.|.	.|.	.|.	S|A	76|35	.|ENSP00000443939:T35A	ENSP00000405056:N76S|ENSP00000443939:T35A	N|T	-|-	2|1	0|0	PRR4|PRR4	10891058|10891058	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-0.009000|-0.009000	0.12765|0.12765	-0.408000|-0.408000	0.07565|0.07565	0.338000|0.338000	0.21704|0.21704	AAC|ACG		0.542	PRR4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400049.1	NM_007244		43	102	0	0	0	0.01441	0	43	102				
PRB3	5544	broad.mit.edu	37	12	11420862	11420862	+	Silent	SNP	T	T	G	rs201524640		TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr12:11420862T>G	ENST00000279573.7	-	3	456	c.321A>C	c.(319-321)ggA>ggC	p.G107G	PRB3_ENST00000440870.3_Intron|PRB3_ENST00000381842.3_Silent_p.G107G|PRB3_ENST00000538488.1_Silent_p.G107G			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	107	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.				defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			GGGACTGGTTTCCTCCTTGTG	0.632																																							uc001qzs.2		NA																	0				skin(1)	1						c.(319-321)GGA>GGC		proline-rich protein BstNI subfamily 3																																				SO:0001819	synonymous_variant	5544					extracellular region	Gram-negative bacterial cell surface binding	g.chr12:11420862T>G			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.321A>C	12.37:g.11420862T>G						PRB4_uc001qzf.1_Intron	p.G107G	NM_006249	NP_006240	Q04118	PRB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.201)		3	359	-			107			10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.|3.		Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	Silent	SNP	ENST00000279573.7	37	c.321A>C																																																																																					0.632	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000402119.5	NM_006249		4	219	0	0	0	0.001168	0	4	219				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	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.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|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)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	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	G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS)	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		15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	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.G12N(6)|p.G12G(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(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(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						c.(34-36)GGT>GTT		c-K-ras2 protein isoform a precursor							91.0	81.0	85.0					12																	25398284		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.chr12:25398284C>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.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_RNA	p.G12V	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	216	-	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.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	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	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	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		5	17	1	0	0.000602214	0.000602	0.000649093	5	17				
BICD1	636	broad.mit.edu	37	12	32480566	32480566	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr12:32480566G>T	ENST00000281474.5	+	5	1280	c.1177G>T	c.(1177-1179)Ggg>Tgg	p.G393W	BICD1_ENST00000548411.1_Missense_Mutation_p.G393W	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	393					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)			TGAGCTGGACGGGGAGAAGGG	0.582																																							uc001rku.2		NA																	0				large_intestine(1)|central_nervous_system(1)	2						c.(1177-1179)GGG>TGG		bicaudal D homolog 1 isoform 1							49.0	46.0	47.0					12																	32480566		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.chr12:32480566G>T	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.1177G>T	12.37:g.32480566G>T	ENSP00000281474:p.Gly393Trp					BICD1_uc001rkv.2_Missense_Mutation_p.G393W|BICD1_uc010skd.1_RNA	p.G393W	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0201)		5	1258	+	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)		393			Potential.		A8K2C3|F8W113|O43892|O43893	Missense_Mutation	SNP	ENST00000281474.5	37	c.1177G>T	CCDS8726.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.421039	0.42918	.	.	ENSG00000151746	ENST00000548411;ENST00000281474	T;T	0.42900	0.96;0.96	5.1	1.96	0.26148	.	0.382752	0.29508	N	0.011941	T	0.45716	0.1356	L	0.46157	1.445	0.48762	D	0.999705	D;P	0.55605	0.972;0.936	P;P	0.55455	0.667;0.776	T	0.39272	-0.9622	10	0.66056	D	0.02	.	8.1077	0.30896	0.085:0.0:0.4681:0.4468	.	393;393	F8W113;Q96G01	.;BICD1_HUMAN	W	393	ENSP00000446793:G393W;ENSP00000281474:G393W	ENSP00000281474:G393W	G	+	1	0	BICD1	32371833	0.427000	0.25514	0.630000	0.29268	0.986000	0.74619	1.044000	0.30329	0.604000	0.29930	0.655000	0.94253	GGG		0.582	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	NM_001714		8	14	1	0	1.12685e-05	0.004482	1.30021e-05	8	14				
GLI1	2735	broad.mit.edu	37	12	57861141	57861141	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr12:57861141C>A	ENST00000228682.2	+	9	1029	c.938C>A	c.(937-939)tCa>tAa	p.S313*	GLI1_ENST00000546141.1_Nonsense_Mutation_p.S272*|GLI1_ENST00000543426.1_Nonsense_Mutation_p.S185*	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	313					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			AAGTCATACTCACGCCTCGAA	0.537																																					Pancreas(157;841 1936 10503 41495 50368)	Pancreas(157;841 1936 10503 41495 50368)	uc001snx.2		NA																	0				skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15						c.(937-939)TCA>TAA		GLI family zinc finger 1 isoform 1							108.0	95.0	100.0					12																	57861141		2203	4300	6503	SO:0001587	stop_gained	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57861141C>A		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.938C>A	12.37:g.57861141C>A	ENSP00000228682:p.Ser313*					GLI1_uc009zpq.2_Nonsense_Mutation_p.S185*	p.S313*	NM_005269	NP_005260	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		9	1016	+			313			C2H2-type 3.		D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Nonsense_Mutation	SNP	ENST00000228682.2	37	c.938C>A	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	C	37	6.339047	0.97485	.	.	ENSG00000111087	ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467;ENST00000443131	.	.	.	4.64	4.64	0.57946	.	0.000000	0.44902	D	0.000411	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.8311	0.85944	0.0:1.0:0.0:0.0	.	.	.	.	X	185;313;272;272;185	.	ENSP00000228682:S313X	S	+	2	0	GLI1	56147408	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.578000	0.82498	2.575000	0.86900	0.563000	0.77884	TCA		0.537	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		12	39	1	0	5.50884e-06	0.013537	6.39736e-06	12	39				
NAV3	89795	broad.mit.edu	37	12	78401020	78401020	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr12:78401020C>A	ENST00000397909.2	+	8	1875	c.1702C>A	c.(1702-1704)Cct>Act	p.P568T	NAV3_ENST00000536525.2_Missense_Mutation_p.P568T|NAV3_ENST00000266692.7_Missense_Mutation_p.P568T|NAV3_ENST00000228327.6_Missense_Mutation_p.P568T			Q8IVL0	NAV3_HUMAN	neuron navigator 3	568						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						CTTATCTAAGCCTATAACCAT	0.493										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.(1702-1704)CCT>ACT		neuron navigator 3							88.0	86.0	87.0					12																	78401020		1910	4118	6028	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78401020C>A	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.1702C>A	12.37:g.78401020C>A	ENSP00000381007:p.Pro568Thr	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.P568T	p.P568T	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			8	1875	+			568					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.1702C>A		.	.	.	.	.	.	.	.	.	.	C	3.105	-0.183828	0.06340	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T;T	0.12774	2.65;2.65;2.65;2.65;2.65	5.29	0.632	0.17705	.	0.419254	0.17279	U	0.180082	T	0.07279	0.0184	N	0.25647	0.755	0.23879	N	0.996587	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.28522	-1.0041	10	0.42905	T	0.14	-8.6549	1.4948	0.02464	0.1419:0.3285:0.2984:0.2311	.	568;568	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	T	568	ENSP00000446628:P568T;ENSP00000446132:P568T;ENSP00000381007:P568T;ENSP00000228327:P568T;ENSP00000266692:P568T	ENSP00000228327:P568T	P	+	1	0	NAV3	76925151	0.940000	0.31905	0.016000	0.15963	0.504000	0.33889	0.759000	0.26461	0.200000	0.20447	0.650000	0.86243	CCT		0.493	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		17	20	1	0	5.35267e-07	0.007413	6.59918e-07	17	20				
DCN	1634	broad.mit.edu	37	12	91550864	91550864	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr12:91550864T>A	ENST00000052754.5	-	5	1141	c.640A>T	c.(640-642)Agc>Tgc	p.S214C	DCN_ENST00000303320.3_Intron|DCN_ENST00000441303.2_Intron|DCN_ENST00000425043.1_Intron|DCN_ENST00000456569.2_Intron|DCN_ENST00000228329.5_Missense_Mutation_p.S105C|DCN_ENST00000420120.2_Missense_Mutation_p.S105C|DCN_ENST00000552962.1_Missense_Mutation_p.S214C|DCN_ENST00000547568.2_Intron|DCN_ENST00000393155.1_Missense_Mutation_p.S214C	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	214					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|kidney development (GO:0001822)|organ morphogenesis (GO:0009887)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|placenta development (GO:0001890)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	collagen type VI trimer (GO:0005589)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						TGAGGAATGCTGGTGATATTG	0.378																																							uc001tbs.2		NA																	0				central_nervous_system(2)|ovary(1)|lung(1)	4						c.(640-642)AGC>TGC		decorin isoform a preproprotein							119.0	114.0	116.0					12																	91550864		2203	4300	6503	SO:0001583	missense	1634				organ morphogenesis	extracellular space		g.chr12:91550864T>A	AF138300	CCDS9039.1, CCDS9040.1, CCDS9041.1, CCDS9042.1, CCDS44951.1	12q21.33	2014-04-16			ENSG00000011465	ENSG00000011465		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	2705	protein-coding gene	gene with protein product	"""decorin proteoglycan"""	125255				8432526	Standard	NM_133507		Approved	DSPG2, SLRR1B	uc001tbt.3	P07585	OTTHUMG00000169998	ENST00000052754.5:c.640A>T	12.37:g.91550864T>A	ENSP00000052754:p.Ser214Cys					DCN_uc001tbo.2_Missense_Mutation_p.S105C|DCN_uc001tbp.2_Intron|DCN_uc001tbq.2_Intron|DCN_uc001tbr.2_Intron|DCN_uc001tbt.2_Missense_Mutation_p.S214C|DCN_uc001tbu.2_Missense_Mutation_p.S214C	p.S214C	NM_133503	NP_598010	P07585	PGS2_HUMAN			4	734	-			214			LRR 7.		Q9P0Z0|Q9P0Z1|Q9Y5N8|Q9Y5N9	Missense_Mutation	SNP	ENST00000052754.5	37	c.640A>T	CCDS9039.1	.	.	.	.	.	.	.	.	.	.	T	15.69	2.907212	0.52333	.	.	ENSG00000011465	ENST00000052754;ENST00000228329;ENST00000393155;ENST00000552962;ENST00000420120	T;T;T;T;T	0.05258	3.47;3.47;3.47;3.47;3.47	5.69	-5.05	0.02955	.	0.667620	0.16479	N	0.212610	T	0.13500	0.0327	M	0.82517	2.595	0.09310	N	1	B;P	0.49696	0.358;0.927	B;P	0.52424	0.345;0.698	T	0.01688	-1.1295	10	0.59425	D	0.04	.	8.3516	0.32305	0.5233:0.0622:0.0:0.4145	.	214;105	P07585;P07585-2	PGS2_HUMAN;.	C	214;105;214;214;105	ENSP00000052754:S214C;ENSP00000228329:S105C;ENSP00000376862:S214C;ENSP00000447654:S214C;ENSP00000413723:S105C	ENSP00000052754:S214C	S	-	1	0	DCN	90074995	0.017000	0.18338	0.433000	0.26760	0.557000	0.35523	-0.267000	0.08619	-0.523000	0.06409	0.477000	0.44152	AGC		0.378	DCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406799.3	NM_133507		10	40	0	0	0	0.010729	0	10	40				
TMEM132D	121256	broad.mit.edu	37	12	130184568	130184568	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr12:130184568G>C	ENST00000422113.2	-	2	1081	c.755C>G	c.(754-756)aCa>aGa	p.T252R	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	252					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ACTGTGGCCTGTCCGGATCCC	0.617																																							uc009zyl.1		NA																	0				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(754-756)ACA>AGA		transmembrane protein 132D precursor							101.0	87.0	92.0					12																	130184568		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:130184568G>C	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.755C>G	12.37:g.130184568G>C	ENSP00000408581:p.Thr252Arg						p.T252R	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	2	1083	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	252			Extracellular (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.755C>G	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	10.31	1.314783	0.23908	.	.	ENSG00000151952	ENST00000422113	T	0.10668	2.85	5.46	1.46	0.22682	.	1.846620	0.02503	N	0.090697	T	0.07818	0.0196	N	0.14661	0.345	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.37220	-0.9715	9	.	.	.	0.9647	8.0558	0.30604	0.1349:0.2452:0.6199:0.0	.	252	Q14C87	T132D_HUMAN	R	252	ENSP00000408581:T252R	.	T	-	2	0	TMEM132D	128750521	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	0.550000	0.23345	-0.004000	0.14419	-0.145000	0.13849	ACA		0.617	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		18	48	0	0	0	0.012319	0	18	48				
SLC46A3	283537	broad.mit.edu	37	13	29287666	29287666	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr13:29287666G>A	ENST00000266943.6	-	3	580	c.211C>T	c.(211-213)Cgt>Tgt	p.R71C	SLC46A3_ENST00000380814.4_Missense_Mutation_p.R71C	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	71					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		AGATTAAAACGTGACACTTTT	0.338																																							uc001usi.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(211-213)CGT>TGT		solute carrier family 46, member 3 isoform a							43.0	44.0	44.0					13																	29287666		2203	4300	6503	SO:0001583	missense	283537				transmembrane transport	integral to membrane		g.chr13:29287666G>A		CCDS9332.1, CCDS45021.1	13q12.3	2013-05-22	2007-03-29		ENSG00000139508	ENSG00000139508		"""Solute carriers"""	27501	protein-coding gene	gene with protein product							Standard	NM_001135919		Approved	DKFZp686A1775, FLJ42613	uc001usj.3	Q7Z3Q1	OTTHUMG00000016650	ENST00000266943.6:c.211C>T	13.37:g.29287666G>A	ENSP00000266943:p.Arg71Cys					SLC46A3_uc001usg.2_Translation_Start_Site|SLC46A3_uc001usj.2_Missense_Mutation_p.R71C|SLC46A3_uc001ush.2_Missense_Mutation_p.R71C|SLC46A3_uc001usk.2_Translation_Start_Site	p.R71C	NM_181785	NP_861450	Q7Z3Q1	S46A3_HUMAN		all cancers(112;0.159)	2	1181	-		Lung SC(185;0.0367)	71			Extracellular (Potential).		Q3ZCV8|Q6NUK5|Q6P9B3|Q6ZVG5|Q96QA1	Missense_Mutation	SNP	ENST00000266943.6	37	c.211C>T	CCDS9332.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.580132	0.46006	.	.	ENSG00000139508	ENST00000266943;ENST00000380814	T;T	0.58060	0.36;0.36	5.91	4.17	0.49024	.	0.220156	0.35970	N	0.002872	T	0.33000	0.0848	N	0.14661	0.345	0.35672	D	0.813409	P;P	0.51791	0.935;0.948	B;B	0.41988	0.255;0.372	T	0.44605	-0.9317	10	0.45353	T	0.12	-24.4726	8.2682	0.31827	0.19:0.115:0.695:0.0	.	71;71	Q7Z3Q1-2;Q7Z3Q1	.;S46A3_HUMAN	C	71	ENSP00000266943:R71C;ENSP00000370192:R71C	ENSP00000266943:R71C	R	-	1	0	SLC46A3	28185666	1.000000	0.71417	0.954000	0.39281	0.416000	0.31233	3.164000	0.50770	1.508000	0.48769	0.655000	0.94253	CGT		0.338	SLC46A3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276111.1	NM_181785		4	29	0	0	0	0.000602	0	4	29				
RNY4P30	100862673	broad.mit.edu	37	13	50464887	50464887	+	RNA	SNP	C	C	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr13:50464887C>T	ENST00000410216.1	-	0	0									RNA, Ro-associated Y4 pseudogene 30																		GGATTTGTTGCTGTTCCCTTT	0.463																																							uc001vdk.2		NA																	0					0						c.(160-162)GCT>GTT		Homo sapiens CTAGE family, member 5 pseudogene, mRNA (cDNA clone IMAGE:5270026).																																						220429							g.chr13:50464887C>T			13q14.2	2011-08-03			ENSG00000222148	ENSG00000222148			42498	pseudogene	RNA, pseudogene							Standard	NG_032103		Approved						13.37:g.50464887C>T							p.A54V	NR_003268						1	343	+									Missense_Mutation	SNP	ENST00000410216.1	37	c.161C>T																																																																																					0.463	RNY4P30-201	KNOWN	basic	misc_RNA	misc_RNA				3	6	0	0	0	0.009096	0	3	6				
KLHL1	57626	broad.mit.edu	37	13	70681625	70681625	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr13:70681625C>A	ENST00000377844.4	-	1	966	c.207G>T	c.(205-207)tgG>tgT	p.W69C	KLHL1_ENST00000545028.1_5'UTR|ATXN8OS_ENST00000414504.2_RNA|ATXN8OS_ENST00000424524.1_RNA	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	69	Ser-rich.				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)		aagGCTTCTTCCAGAAAGTGC	0.587																																							uc001vip.2		NA																	0					0						c.(205-207)TGG>TGT		kelch-like 1 protein							86.0	93.0	90.0					13																	70681625		2203	4300	6503	SO:0001583	missense	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70681625C>A	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.207G>T	13.37:g.70681625C>A	ENSP00000367075:p.Trp69Cys					KLHL1_uc010thm.1_Missense_Mutation_p.W69C|ATXN8OS_uc010aej.1_RNA	p.W69C	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	1	1001	-		Breast(118;0.000162)	69			Ser-rich.		A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	37	c.207G>T	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.467354	0.43839	.	.	ENSG00000150361	ENST00000377844	T	0.72615	-0.67	5.41	4.57	0.56435	.	6.947860	0.00166	N	0.000000	T	0.74038	0.3664	L	0.44542	1.39	0.80722	D	1	D;D	0.54772	0.968;0.968	P;P	0.47430	0.473;0.547	T	0.59595	-0.7425	10	0.87932	D	0	.	12.2841	0.54783	0.0:0.9218:0.0:0.0782	.	69;69	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	C	69	ENSP00000367075:W69C	ENSP00000367075:W69C	W	-	3	0	KLHL1	69579626	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	2.578000	0.46051	1.297000	0.44761	0.650000	0.86243	TGG		0.587	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		22	36	1	0	4.72057e-08	0.003954	6.06931e-08	22	36				
NALCN	259232	broad.mit.edu	37	13	101728293	101728293	+	Splice_Site	SNP	C	C	G			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr13:101728293C>G	ENST00000251127.6	-	35	3967		c.e35-1			NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective						calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TATATGCATTCTGAAATTTAA	0.313																																							uc001vox.1		NA																	0				ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.e35-1		voltage gated channel like 1							86.0	84.0	84.0					13																	101728293		2203	4294	6497	SO:0001630	splice_region_variant	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101728293C>G	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.3886-1G>C	13.37:g.101728293C>G							p.N1296_splice	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			35	4075	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)							Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Splice_Site	SNP	ENST00000251127.6	37	c.3886_splice	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.666467	0.88251	.	.	ENSG00000102452	ENST00000251127	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1221	0.97964	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NALCN	100526294	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.484000	0.81180	2.754000	0.94517	0.655000	0.94253	.		0.313	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867	Intron	15	29	0	0	0	0.006122	0	15	29				
CTSG	1511	broad.mit.edu	37	14	25043939	25043939	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr14:25043939G>A	ENST00000216336.2	-	3	317	c.281C>T	c.(280-282)gCc>gTc	p.A94V		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	94	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)		GTGGCGGATGGCTCTGCGCGC	0.527																																							uc001wpq.2		NA																	0				ovary(2)	2						c.(280-282)GCC>GTC		cathepsin G preproprotein							221.0	176.0	191.0					14																	25043939		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.chr14:25043939G>A	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.281C>T	14.37:g.25043939G>A	ENSP00000216336:p.Ala94Val						p.A94V	NM_001911	NP_001902	P08311	CATG_HUMAN		GBM - Glioblastoma multiforme(265;0.0269)	3	318	-			94			Peptidase S1.		Q6IBJ6|Q9UCA5|Q9UCU6	Missense_Mutation	SNP	ENST00000216336.2	37	c.281C>T	CCDS9631.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.752557	0.69533	.	.	ENSG00000100448	ENST00000216336	D	0.86769	-2.17	5.14	2.09	0.27110	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.427833	0.17229	N	0.182027	T	0.74794	0.3763	N	0.04063	-0.285	0.33944	D	0.643643	P	0.43973	0.823	P	0.51135	0.66	T	0.72727	-0.4206	10	0.19147	T	0.46	.	3.8201	0.08832	0.1975:0.0:0.6101:0.1925	.	94	P08311	CATG_HUMAN	V	94	ENSP00000216336:A94V	ENSP00000216336:A94V	A	-	2	0	CTSG	24113779	0.390000	0.25213	0.995000	0.50966	0.048000	0.14542	0.548000	0.23314	0.826000	0.34661	0.655000	0.94253	GCC		0.527	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276536.2	NM_001911		16	42	0	0	0	0.00499	0	16	42				
HEATR5A	25938	broad.mit.edu	37	14	31777181	31777181	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr14:31777181A>G	ENST00000389961.3	-	29	4717	c.4718T>C	c.(4717-4719)aTg>aCg	p.M1573T	HEATR5A_ENST00000543095.2_Missense_Mutation_p.M1579T|HEATR5A_ENST00000439727.1_Missense_Mutation_p.M1286T|HEATR5A_ENST00000439348.1_Missense_Mutation_p.M1573T|AL136418.1_ENST00000582500.1_RNA			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1573										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)		TATGCTTTCCATGGTTGCATC	0.393																																							uc001wrf.3		NA																	0				ovary(1)	1						c.(3856-3858)ATG>ACG		HEAT repeat containing 5A							96.0	85.0	89.0					14																	31777181		1878	4116	5994	SO:0001583	missense	25938						binding	g.chr14:31777181A>G	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.4718T>C	14.37:g.31777181A>G	ENSP00000374611:p.Met1573Thr					HEATR5A_uc010ami.2_Missense_Mutation_p.M1184T	p.M1286T	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)	24	3934	-	Hepatocellular(127;0.0877)|Breast(36;0.137)		1573					Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	ENST00000389961.3	37	c.3857T>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.11|16.11	3.030874|3.030874	0.54790|0.54790	.|.	.|.	ENSG00000129493|ENSG00000129493	ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095|ENST00000538864	T;T;T;T|.	0.43688|.	0.94;0.94;0.94;0.94|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	0.037694|.	0.85682|.	D|.	0.000000|.	T|T	0.69369|0.69369	0.3103|0.3103	L|L	0.55481|0.55481	1.735|1.735	0.80722|0.80722	D|D	1|1	B|.	0.23249|.	0.082|.	B|.	0.16289|.	0.015|.	T|T	0.67772|0.67772	-0.5584|-0.5584	10|5	0.30078|.	T|.	0.28|.	.|.	15.7632|15.7632	0.78103|0.78103	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1573|.	Q86XA9-2|.	.|.	T|R	1573;1573;1286;1579|1207	ENSP00000374611:M1573T;ENSP00000405407:M1573T;ENSP00000408681:M1286T;ENSP00000437968:M1579T|.	ENSP00000374611:M1573T|.	M|W	-|-	2|1	0|0	HEATR5A|HEATR5A	30846932|30846932	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	8.446000|8.446000	0.90329|0.90329	2.179000|2.179000	0.69175|0.69175	0.533000|0.533000	0.62120|0.62120	ATG|TGG		0.393	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473		4	6	0	0	0	0.001168	0	4	6				
CLMN	79789	broad.mit.edu	37	14	95669278	95669278	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr14:95669278C>A	ENST00000298912.4	-	9	2521	c.2408G>T	c.(2407-2409)gGt>gTt	p.G803V		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	803					negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		ACCCACACCACCCCTGCTGAG	0.627																																							uc001yef.2		NA																	0					0						c.(2407-2409)GGT>GTT		calmin							51.0	51.0	51.0					14																	95669278		2203	4300	6503	SO:0001583	missense	79789					integral to membrane	actin binding	g.chr14:95669278C>A	AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.2408G>T	14.37:g.95669278C>A	ENSP00000298912:p.Gly803Val						p.G803V	NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN		Epithelial(152;0.193)	9	2524	-			803					B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Missense_Mutation	SNP	ENST00000298912.4	37	c.2408G>T	CCDS9933.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.492338	0.26774	.	.	ENSG00000165959	ENST00000298912	D	0.92446	-3.04	4.45	-5.56	0.02529	.	0.817725	0.10318	N	0.689091	D	0.83617	0.5293	L	0.40543	1.245	0.09310	N	1	P	0.34462	0.454	B	0.35240	0.198	T	0.73770	-0.3878	10	0.87932	D	0	.	1.5192	0.02512	0.1258:0.2313:0.2314:0.4115	.	803	Q96JQ2	CLMN_HUMAN	V	803	ENSP00000298912:G803V	ENSP00000298912:G803V	G	-	2	0	CLMN	94739031	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.228000	0.01209	-1.204000	0.02648	-0.254000	0.11334	GGT		0.627	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414518.2			18	32	1	0	2.4624e-09	0.008871	3.3077e-09	18	32				
NPAP1	23742	broad.mit.edu	37	15	24923451	24923451	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr15:24923451G>T	ENST00000329468.2	+	1	2911	c.2437G>T	c.(2437-2439)Gca>Tca	p.A813S		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	813					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											TGCCTCTGCAGCATCGTTATC	0.522																																							uc001ywo.2		NA																	0				ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(2437-2439)GCA>TCA		hypothetical protein LOC23742							137.0	131.0	133.0					15																	24923451		2203	4300	6503	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24923451G>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.2437G>T	15.37:g.24923451G>T	ENSP00000333735:p.Ala813Ser						p.A813S	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	2911	+		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)	813						Missense_Mutation	SNP	ENST00000329468.2	37	c.2437G>T	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	3.284	-0.146476	0.06627	.	.	ENSG00000185823	ENST00000329468	T	0.07216	3.21	1.26	-2.52	0.06346	.	.	.	.	.	T	0.03263	0.0095	L	0.29908	0.895	0.09310	N	1	B	0.31174	0.311	B	0.23716	0.048	T	0.44298	-0.9337	9	0.05351	T	0.99	.	0.0692	0.00020	0.2961:0.2454:0.2138:0.2448	.	813	Q9NZP6	CO002_HUMAN	S	813	ENSP00000333735:A813S	ENSP00000333735:A813S	A	+	1	0	C15orf2	22474544	0.017000	0.18338	0.000000	0.03702	0.002000	0.02628	-0.248000	0.08854	-1.628000	0.01548	-0.498000	0.04607	GCA		0.522	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		39	74	1	0	7.05121e-23	0.010771	1.18619e-22	39	74				
GABPB1	2553	broad.mit.edu	37	15	50581768	50581768	+	Silent	SNP	T	T	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr15:50581768T>A	ENST00000220429.8	-	7	999	c.831A>T	c.(829-831)acA>acT	p.T277T	GABPB1_ENST00000543881.1_Silent_p.T201T|GABPB1_ENST00000380877.3_Silent_p.T265T|GABPB1_ENST00000429662.2_Silent_p.T277T|GABPB1_ENST00000560825.1_Silent_p.T264T|GABPB1_ENST00000396464.3_Silent_p.T265T|GABPB1_ENST00000359031.4_Silent_p.T265T			Q06547	GABP1_HUMAN	GA binding protein transcription factor, beta subunit 1	277	Transcription activation and HCFC1 interaction.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						GAATTCCATCTGTAACTATTG	0.448																																							uc001zyb.2		NA																	0				large_intestine(1)	1						c.(829-831)ACA>ACT		GA binding protein transcription factor, beta							124.0	117.0	119.0					15																	50581768		2196	4295	6491	SO:0001819	synonymous_variant	2553				positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr15:50581768T>A	D13316	CCDS10135.1, CCDS10136.1, CCDS32239.1, CCDS45258.1	15q21.2	2013-01-10	2008-02-25	2008-02-25	ENSG00000104064	ENSG00000104064		"""Ankyrin repeat domain containing"""	4074	protein-coding gene	gene with protein product		600610	"""GA binding protein transcription factor, beta subunit 2"""	GABPB2		7958862	Standard	NM_016655		Approved	E4TF1-47, GABPB	uc001zyb.3	Q06547	OTTHUMG00000131642	ENST00000220429.8:c.831A>T	15.37:g.50581768T>A						GABPB1_uc001zya.2_Silent_p.T265T|GABPB1_uc010ufg.1_Silent_p.T201T|GABPB1_uc001zyc.2_Silent_p.T265T|GABPB1_uc001zyd.2_Silent_p.T265T|GABPB1_uc001zye.2_Silent_p.T277T|GABPB1_uc001zyf.2_Silent_p.T264T	p.T277T	NM_005254	NP_005245	Q06547	GABP1_HUMAN			7	1255	-			277			Transcription activation and HCFC1 interaction.		A8IE52|Q06545|Q12940|Q12941|Q12942|Q8IYD0	Silent	SNP	ENST00000220429.8	37	c.831A>T	CCDS32239.1																																																																																				0.448	GABPB1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000418294.1			16	48	0	0	0	0.006122	0	16	48				
ABCC1	4363	broad.mit.edu	37	16	16149958	16149958	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr16:16149958A>T	ENST00000399410.3	+	12	1658	c.1483A>T	c.(1483-1485)Atg>Ttg	p.M495L	ABCC1_ENST00000351154.5_Missense_Mutation_p.M495L|ABCC1_ENST00000345148.5_Missense_Mutation_p.M495L|ABCC1_ENST00000346370.5_Missense_Mutation_p.M495L|ABCC1_ENST00000399408.2_Missense_Mutation_p.M495L|ABCC1_ENST00000349029.5_Missense_Mutation_p.M495L	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	495	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	GGTGGCCCACATGAAGAGCAA	0.473																																							uc010bvi.2		NA																	0				ovary(4)	4						c.(1483-1485)ATG>TTG		ATP-binding cassette, sub-family C, member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						91.0	89.0	90.0					16																	16149958		1981	4162	6143	SO:0001583	missense	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16149958A>T	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.1483A>T	16.37:g.16149958A>T	ENSP00000382342:p.Met495Leu					ABCC1_uc010bvj.2_Missense_Mutation_p.M495L|ABCC1_uc010bvk.2_Missense_Mutation_p.M495L|ABCC1_uc010bvl.2_Missense_Mutation_p.M495L|ABCC1_uc010bvm.2_Missense_Mutation_p.M495L|ABCC1_uc002del.3_Missense_Mutation_p.M379L|ABCC1_uc010bvn.2_Missense_Mutation_p.M358L	p.M495L	NM_004996	NP_004987	P33527	MRP1_HUMAN			12	1658	+			495			Cytoplasmic.|ABC transmembrane type-1 1.		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Missense_Mutation	SNP	ENST00000399410.3	37	c.1483A>T	CCDS42122.1	.	.	.	.	.	.	.	.	.	.	A	19.99	3.929647	0.73327	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029;ENST00000536381	D;D;D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46;-2.46;-2.46	5.32	5.32	0.75619	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	0.91422	0.7293	L	0.41236	1.265	0.52501	D	0.999958	D;P;B;P;P;B;B	0.56746	0.977;0.91;0.324;0.589;0.91;0.021;0.059	D;D;B;B;D;B;B	0.69654	0.965;0.909;0.273;0.444;0.909;0.112;0.068	D	0.92436	0.5958	10	0.87932	D	0	-39.7413	14.4746	0.67537	1.0:0.0:0.0:0.0	.	495;495;495;495;495;495;495	P33527-6;P33527-5;P33527-4;P33527-3;P33527-2;P33527;P33527-9	.;.;.;.;.;MRP1_HUMAN;.	L	495;495;495;495;495;495;169	ENSP00000382342:M495L;ENSP00000382340:M495L;ENSP00000263019:M495L;ENSP00000263017:M495L;ENSP00000263014:M495L;ENSP00000263016:M495L	ENSP00000263014:M495L	M	+	1	0	ABCC1	16057459	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	8.915000	0.92740	2.007000	0.58848	0.459000	0.35465	ATG		0.473	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		4	35	0	0	0	0.009096	0	4	35				
MAZ	4150	broad.mit.edu	37	16	29818879	29818879	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr16:29818879C>T	ENST00000322945.6	+	2	938	c.773C>T	c.(772-774)gCc>gTc	p.A258V	MAZ_ENST00000569978.1_5'Flank|AC009133.15_ENST00000566537.1_RNA|MAZ_ENST00000568282.1_5'Flank|MAZ_ENST00000568544.1_5'Flank|MAZ_ENST00000545521.1_Missense_Mutation_p.A235V|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000562337.1_Intron|AC009133.20_ENST00000569039.1_RNA|MAZ_ENST00000563402.1_Intron|MAZ_ENST00000219782.6_Missense_Mutation_p.A258V|AC009133.14_ENST00000563806.1_RNA|MAZ_ENST00000566906.2_Intron	NM_002383.2	NP_002374.2	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	258					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|termination of RNA polymerase II transcription (GO:0006369)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						GGCGGCGCTGCCGCAGTGGCC	0.721																																					Colon(72;875 1167 15364 30899 37091)	Colon(72;875 1167 15364 30899 37091)	uc002dty.2		NA																	0				ovary(1)	1						c.(772-774)GCC>GTC		MYC-associated zinc finger protein isoform 1							8.0	10.0	9.0					16																	29818879		1789	3981	5770	SO:0001583	missense	4150				regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding	g.chr16:29818879C>T	M93339	CCDS42143.1, CCDS42144.1, CCDS61902.1, CCDS61903.1	16p11.2	2013-01-08			ENSG00000103495	ENSG00000103495		"""Zinc fingers, C2H2-type"""	6914	protein-coding gene	gene with protein product		600999				1567856, 1502157	Standard	NM_001276275		Approved	ZF87, Pur-1, Zif87, ZNF801	uc002dtx.4	P56270	OTTHUMG00000132119	ENST00000322945.6:c.773C>T	16.37:g.29818879C>T	ENSP00000313362:p.Ala258Val					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MAZ_uc002dtv.1_Intron|MAZ_uc010vdx.1_Missense_Mutation_p.A235V|MAZ_uc002dtw.2_Intron|MAZ_uc002dtx.2_Missense_Mutation_p.A258V|MAZ_uc010bzg.2_Intron|MAZ_uc002dtz.1_5'UTR|MAZ_uc002dua.2_5'Flank|MAZ_uc010vdy.1_5'Flank	p.A258V	NM_002383	NP_002374	P56270	MAZ_HUMAN			2	941	+			258					A8QJL9|C6G496|G5E927|H3BQD6|Q15703|Q8NFN7|Q99443	Missense_Mutation	SNP	ENST00000322945.6	37	c.773C>T	CCDS42143.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.522888	0.44866	.	.	ENSG00000103495	ENST00000545521;ENST00000322945;ENST00000219782;ENST00000544343	T;T;T	0.09723	3.01;2.95;2.98	2.62	2.62	0.31277	.	0.578336	0.13541	U	0.380215	T	0.11965	0.0291	N	0.08118	0	0.80722	D	1	D;B;D	0.61080	0.989;0.11;0.987	P;B;P	0.58577	0.698;0.018;0.841	T	0.30504	-0.9976	10	0.72032	D	0.01	-5.5866	10.9824	0.47501	0.0:1.0:0.0:0.0	.	235;258;258	C6G496;P56270;G5E927	.;MAZ_HUMAN;.	V	235;258;258;34	ENSP00000443956:A235V;ENSP00000313362:A258V;ENSP00000219782:A258V	ENSP00000219782:A258V	A	+	2	0	MAZ	29726380	0.237000	0.23815	0.916000	0.36221	0.728000	0.41692	1.672000	0.37523	1.480000	0.48289	0.289000	0.19496	GCC		0.721	MAZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435536.1	NM_002383		4	5	0	0	0	0.009096	0	4	5				
MYH1	4619	broad.mit.edu	37	17	10415801	10415801	+	Silent	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr17:10415801C>A	ENST00000226207.5	-	12	1165	c.1071G>T	c.(1069-1071)ggG>ggT	p.G357G	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	357	Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GCATCACAGCCCCTGTGAGCT	0.453																																							uc002gmo.2		NA																	0				ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(1069-1071)GGG>GGT		myosin, heavy chain 1, skeletal muscle, adult							135.0	124.0	128.0					17																	10415801		2203	4300	6503	SO:0001819	synonymous_variant	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10415801C>A		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.1071G>T	17.37:g.10415801C>A						uc002gml.1_Intron	p.G357G	NM_005963	NP_005954	P12882	MYH1_HUMAN			12	1165	-			357			Myosin head-like.		Q14CA4|Q9Y622	Silent	SNP	ENST00000226207.5	37	c.1071G>T	CCDS11155.1																																																																																				0.453	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		13	36	1	0	0.000151284	0.001855	0.000167063	13	36				
DSG4	147409	broad.mit.edu	37	18	28989467	28989467	+	Silent	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr18:28989467C>A	ENST00000308128.4	+	13	2121	c.1986C>A	c.(1984-1986)ggC>ggA	p.G662G	DSG4_ENST00000359747.4_Silent_p.G662G|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	662					anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGCCAGAAGGCCTGGGAACAA	0.532																																							uc002kwq.2		NA																	0				central_nervous_system(5)|ovary(3)	8						c.(1984-1986)GGC>GGA		desmoglein 4 isoform 2 preproprotein							122.0	125.0	124.0					18																	28989467		2203	4300	6503	SO:0001819	synonymous_variant	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28989467C>A	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.1986C>A	18.37:g.28989467C>A						DSG4_uc002kwr.2_Silent_p.G662G	p.G662G	NM_177986	NP_817123	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		13	2121	+			662			Cytoplasmic (Potential).		A2RUI1|Q6Y9L9|Q8IXV4	Silent	SNP	ENST00000308128.4	37	c.1986C>A	CCDS11897.1																																																																																				0.532	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		36	40	1	0	3.3946e-10	0.005524	4.70021e-10	36	40				
THEG	51298	broad.mit.edu	37	19	375671	375671	+	Silent	SNP	A	A	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr19:375671A>T	ENST00000342640.4	-	1	342	c.300T>A	c.(298-300)ccT>ccA	p.P100P	THEG_ENST00000346878.2_Silent_p.P100P	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	100					cell differentiation (GO:0030154)|chaperone-mediated protein complex assembly (GO:0051131)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCTGATTTCAGGAATGTCCT	0.662																																							uc002lol.2		NA																	0				ovary(1)	1						c.(298-300)CCT>CCA		Theg homolog isoform 1							108.0	116.0	113.0					19																	375671		2203	4300	6503	SO:0001819	synonymous_variant	51298				cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding	g.chr19:375671A>T	AF268610	CCDS12025.1, CCDS12026.1	19p13.3	2012-02-24	2012-02-24		ENSG00000105549	ENSG00000105549			13706	protein-coding gene	gene with protein product	"""cancer/testis antigen 56"""	609503	"""Theg homolog (mouse)"""			11173852	Standard	NM_016585		Approved	CT56, THEG1	uc002lol.3	Q9P2T0	OTTHUMG00000165491	ENST00000342640.4:c.300T>A	19.37:g.375671A>T						THEG_uc002lom.2_Silent_p.P100P	p.P100P	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	1	339	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	100					A6NMJ8	Silent	SNP	ENST00000342640.4	37	c.300T>A	CCDS12025.1																																																																																				0.662	THEG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384431.2			17	90	0	0	0	0.008871	0	17	90				
MUC16	94025	broad.mit.edu	37	19	8997417	8997417	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr19:8997417C>A	ENST00000397910.4	-	59	41208	c.41005G>T	c.(41005-41007)Ggc>Tgc	p.G13669C	MUC16_ENST00000380951.5_Missense_Mutation_p.G310C	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13671	SEA 11. {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						CTTACCAGGCCCTGAAGGACC	0.552																																							uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(41005-41007)GGC>TGC		mucin 16							151.0	122.0	132.0					19																	8997417		1991	4159	6150	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8997417C>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.41005G>T	19.37:g.8997417C>A	ENSP00000381008:p.Gly13669Cys					MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.G486C|MUC16_uc010xki.1_RNA	p.G13669C	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			59	41209	-			13671	Missing (in Ref. 3; AAK74120).		Extracellular (Potential).|SEA 11.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.41005G>T	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	8.144|8.144	0.785895|0.785895	0.16189|0.16189	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000397910;ENST00000380951|ENST00000542240	T;T|.	0.29655|.	1.56;1.56|.	2.86|2.86	-5.72|-5.72	0.02406|0.02406	SEA (2);|.	.|.	.|.	.|.	.|.	T|T	0.50240|0.50240	0.1604|0.1604	M|M	0.80982|0.80982	2.52|2.52	.|.	.|.	.|.	D;D|.	0.89917|.	0.986;1.0|.	P;D|.	0.91635|.	0.67;0.999|.	T|T	0.51309|0.51309	-0.8722|-0.8722	8|4	0.37606|.	T|.	0.19|.	0.2277|0.2277	6.0614|6.0614	0.19841|0.19841	0.0885:0.5575:0.1478:0.2062|0.0885:0.5575:0.1478:0.2062	.|.	21314;13669|.	Q8WXI7;B5ME49|.	MUC16_HUMAN;.|.	C|S	13669;310|508	ENSP00000381008:G13669C;ENSP00000370338:G310C|.	ENSP00000370338:G310C|.	G|R	-|-	1|3	0|2	MUC16|MUC16	8858417|8858417	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-3.039000|-3.039000	0.00633|0.00633	-2.853000|-2.853000	0.00330|0.00330	-1.163000|-1.163000	0.01768|0.01768	GGC|AGG		0.552	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		31	61	1	0	6.70999e-13	0.004289	9.7403e-13	31	61				
MUC16	94025	broad.mit.edu	37	19	9015723	9015723	+	Silent	SNP	C	C	T	rs371329008	byFrequency	TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr19:9015723C>T	ENST00000397910.4	-	29	38303	c.38100G>A	c.(38098-38100)ccG>ccA	p.P12700P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12702	SEA 5. {ECO:0000255|PROSITE- ProRule:PRU00188}.				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						TGAGGGTGAACGGCACCAGGA	0.468													-|||	7	0.00139776	0.0053	0.0	5008	,	,		14756	0.0		0.0	False		,,,				2504	0.0						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(38098-38100)CCG>CCA		mucin 16		C		13,3935		0,13,1961	193.0	169.0	177.0		38100	-5.8	0.0	19	dbSNP_134	177	0,8264		0,0,4132	no	coding-synonymous	MUC16	NM_024690.2		0,13,6093	TT,TC,CC		0.0,0.3293,0.1065		12700/14508	9015723	13,12199	1974	4132	6106	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9015723C>T	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.38100G>A	19.37:g.9015723C>T						MUC16_uc010xki.1_5'Flank	p.P12700P	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			29	38304	-			12702			SEA 5.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.38100G>A	CCDS54212.1																																																																																				0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		5	141	0	0	0	0.001168	0	5	141				
MUC16	94025	broad.mit.edu	37	19	9060180	9060180	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr19:9060180G>T	ENST00000397910.4	-	3	27469	c.27266C>A	c.(27265-27267)aCa>aAa	p.T9089K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9091	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						ACCCCTTGATGTAGCCCCAGG	0.478																																							uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(27265-27267)ACA>AAA		mucin 16							179.0	166.0	170.0					19																	9060180		1922	4131	6053	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9060180G>T	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.27266C>A	19.37:g.9060180G>T	ENSP00000381008:p.Thr9089Lys						p.T9089K	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	27470	-			9091			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.27266C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	4.787	0.146278	0.09134	.	.	ENSG00000181143	ENST00000397910	T	0.02472	4.28	2.5	0.167	0.15006	.	.	.	.	.	T	0.01976	0.0062	N	0.24115	0.695	.	.	.	B	0.28713	0.22	B	0.23574	0.047	T	0.43261	-0.9402	8	0.87932	D	0	.	2.523	0.04684	0.1785:0.0:0.5331:0.2884	.	9089	B5ME49	.	K	9089	ENSP00000381008:T9089K	ENSP00000381008:T9089K	T	-	2	0	MUC16	8921180	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.076000	0.14712	0.105000	0.17753	0.461000	0.40582	ACA		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		10	58	1	0	6.40141e-05	0.010729	7.11268e-05	10	58				
COL5A3	50509	broad.mit.edu	37	19	10102481	10102481	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr19:10102481C>A	ENST00000264828.3	-	23	2015	c.1930G>T	c.(1930-1932)Gga>Tga	p.G644*		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	644	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCATGGTTTCCCTGCTGTCCC	0.552																																							uc002mmq.1		NA																	0				ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10						c.(1930-1932)GGA>TGA		collagen, type V, alpha 3 preproprotein							88.0	86.0	86.0					19																	10102481		2203	4300	6503	SO:0001587	stop_gained	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10102481C>A	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.1930G>T	19.37:g.10102481C>A	ENSP00000264828:p.Gly644*						p.G644*	NM_015719	NP_056534	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		23	2016	-			644			Triple-helical region.		Q9NZQ6	Nonsense_Mutation	SNP	ENST00000264828.3	37	c.1930G>T	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	39	7.568974	0.98365	.	.	ENSG00000080573	ENST00000264828	.	.	.	4.66	4.66	0.58398	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.0615	0.71958	0.0:1.0:0.0:0.0	.	.	.	.	X	644	.	ENSP00000264828:G644X	G	-	1	0	COL5A3	9963481	1.000000	0.71417	1.000000	0.80357	0.512000	0.34134	6.350000	0.73017	2.124000	0.65301	0.561000	0.74099	GGA		0.552	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		19	52	1	0	1.10923e-09	0.00278	1.51259e-09	19	52				
ZNF491	126069	broad.mit.edu	37	19	11916992	11916992	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr19:11916992A>G	ENST00000323169.5	+	3	555	c.224A>G	c.(223-225)tAt>tGt	p.Y75C	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	75					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(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						GAGAAGCCATATAAACATAAA	0.393																																							uc002mso.1		NA																	0				ovary(2)	2						c.(223-225)TAT>TGT		zinc finger protein 491							49.0	52.0	51.0					19																	11916992		2203	4300	6503	SO:0001583	missense	126069				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11916992A>G	AK092110	CCDS12267.1	19p13.2	2013-01-08			ENSG00000177599	ENSG00000177599		"""Zinc fingers, C2H2-type"""	23706	protein-coding gene	gene with protein product							Standard	XM_005259730		Approved	FLJ34791	uc002mso.1	Q8N8L2	OTTHUMG00000156529	ENST00000323169.5:c.224A>G	19.37:g.11916992A>G	ENSP00000313443:p.Tyr75Cys						p.Y75C	NM_152356	NP_689569	Q8N8L2	ZN491_HUMAN			3	509	+			75					Q3MJ35|Q8NAT8	Missense_Mutation	SNP	ENST00000323169.5	37	c.224A>G	CCDS12267.1	.	.	.	.	.	.	.	.	.	.	a	3.591	-0.083583	0.07141	.	.	ENSG00000177599	ENST00000323169;ENST00000455048;ENST00000450087	T;T	0.37235	1.21;3.27	1.01	-0.0901	0.13666	.	.	.	.	.	T	0.37489	0.1005	M	0.82323	2.585	0.20403	N	0.999907	B	0.20261	0.043	B	0.12156	0.007	T	0.42258	-0.9462	9	0.72032	D	0.01	.	5.3756	0.16164	0.8185:0.0:0.1815:0.0	.	75	Q8N8L2	ZN491_HUMAN	C	75	ENSP00000313443:Y75C;ENSP00000392176:Y75C	ENSP00000313443:Y75C	Y	+	2	0	ZNF491	11777992	.	.	0.002000	0.10522	0.002000	0.02628	.	.	-0.097000	0.12307	-0.571000	0.04153	TAT		0.393	ZNF491-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344518.1	NM_152356		8	20	0	0	0	0.006214	0	8	20				
CYP4F12	66002	broad.mit.edu	37	19	15794303	15794303	+	Splice_Site	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr19:15794303G>T	ENST00000550308.1	+	7	1028	c.648G>T	c.(646-648)gaG>gaT	p.E216D	CYP4F12_ENST00000324632.10_Splice_Site_p.E216D	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	216					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	TGCTCTGCAGGAGGCCCAGTG	0.517																																							uc002nbl.2		NA																	0				skin(3)|ovary(2)|central_nervous_system(2)	7						c.(646-648)GAG>GAT		cytochrome P450, family 4, subfamily F,							67.0	66.0	66.0					19																	15794303		2202	4299	6501	SO:0001630	splice_region_variant	66002							g.chr19:15794303G>T	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.648-1G>T	19.37:g.15794303G>T							p.E216D	NM_023944	NP_076433					7	709	+	Acute lymphoblastic leukemia(2;0.0367)							E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	ENST00000550308.1	37	c.648G>T	CCDS42517.1	.	.	.	.	.	.	.	.	.	.	.	9.292	1.050904	0.19827	.	.	ENSG00000186204	ENST00000550308;ENST00000324632	T;T	0.78924	-1.22;-1.22	2.46	1.41	0.22369	.	0.268777	0.28290	U	0.015888	T	0.70527	0.3234	L	0.46819	1.47	0.36931	D	0.891882	B	0.22983	0.078	B	0.36766	0.232	T	0.63161	-0.6699	9	.	.	.	.	7.2867	0.26344	0.1443:0.0:0.8557:0.0	.	216	Q9HCS2	CP4FC_HUMAN	D	216	ENSP00000448998:E216D;ENSP00000321821:E216D	.	E	+	3	2	CYP4F12	15655303	1.000000	0.71417	0.882000	0.34594	0.015000	0.08874	2.532000	0.45659	0.596000	0.29794	-0.350000	0.07774	GAG		0.517	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9		Missense_Mutation	20	58	1	0	4.26978e-12	0.00333	6.09968e-12	20	58				
EPS15L1	58513	broad.mit.edu	37	19	16504811	16504811	+	Splice_Site	SNP	G	G	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr19:16504811G>A	ENST00000248070.6	-	18	2056	c.1917C>T	c.(1915-1917)ggC>ggT	p.G639G	EPS15L1_ENST00000594975.1_Splice_Site_p.G641G|EPS15L1_ENST00000535753.2_Splice_Site_p.G639G|EPS15L1_ENST00000455140.2_Splice_Site_p.G639G	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	639	15 X 3 AA repeats of D-P-F.				endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						GGAACGGGTCGCCTGGTTGGA	0.547																																							uc002ndz.1		NA																	0				ovary(3)|skin(2)	5						c.(1915-1917)GGC>GGT		epidermal growth factor receptor pathway							126.0	117.0	120.0					19																	16504811		2203	4300	6503	SO:0001630	splice_region_variant	58513				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding	g.chr19:16504811G>A	AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"""EF-hand domain containing"""	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.1916-1C>T	19.37:g.16504811G>A						EPS15L1_uc002ndx.2_Silent_p.G639G|EPS15L1_uc002ndy.2_RNA|EPS15L1_uc010xpe.1_Silent_p.G529G|EPS15L1_uc010xpf.1_Silent_p.G542G|EPS15L1_uc002nea.1_Silent_p.G639G|EPS15L1_uc010eah.1_Silent_p.G641G	p.G639G	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN			18	1923	-			639			15 X 3 AA repeats of D-P-F.		A2RRF3|A5PL29|B4DKA3	Silent	SNP	ENST00000248070.6	37	c.1917C>T	CCDS32944.1																																																																																				0.547	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1	NM_021235	Silent	28	53	0	0	0	0.007835	0	28	53				
UNC13A	23025	broad.mit.edu	37	19	17778956	17778956	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr19:17778956C>A	ENST00000519716.2	-	6	437	c.438G>T	c.(436-438)gaG>gaT	p.E146D	UNC13A_ENST00000551649.1_Missense_Mutation_p.E146D|UNC13A_ENST00000252773.7_Missense_Mutation_p.E146D|UNC13A_ENST00000550896.1_Missense_Mutation_p.E146D|UNC13A_ENST00000428389.2_Missense_Mutation_p.E234D|UNC13A_ENST00000552293.1_Missense_Mutation_p.E146D	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	146					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						CATTGAGCTGCTCCAGCTTCT	0.557																																							uc002nhd.2		NA																	0				ovary(3)	3						c.(700-702)GAG>GAT		unc-13 homolog A							82.0	86.0	85.0					19																	17778956		2016	4193	6209	SO:0001583	missense	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17778956C>A	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.438G>T	19.37:g.17778956C>A	ENSP00000429562:p.Glu146Asp						p.E234D	NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN			7	702	-			146					E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	c.702G>T	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	C	13.98	2.399780	0.42512	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52;-0.52	4.26	4.26	0.50523	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	U	0.000000	T	0.73768	0.3629	L	0.56769	1.78	0.35319	D	0.784622	B	0.30889	0.299	B	0.43225	0.412	T	0.80405	-0.1396	10	0.44086	T	0.13	-19.6198	14.1822	0.65580	0.0:1.0:0.0:0.0	.	146	Q9UPW8	UN13A_HUMAN	D	146;234;146;146;146;146	ENSP00000429562:E146D;ENSP00000400409:E234D;ENSP00000252773:E146D;ENSP00000447236:E146D;ENSP00000447572:E146D;ENSP00000446831:E146D	ENSP00000252773:E146D	E	-	3	2	UNC13A	17639956	0.999000	0.42202	1.000000	0.80357	0.983000	0.72400	0.776000	0.26704	1.922000	0.55676	0.561000	0.74099	GAG		0.557	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		8	20	1	0	6.40141e-05	0.010729	7.11268e-05	8	20				
ZNF257	113835	broad.mit.edu	37	19	22256306	22256306	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr19:22256306C>G	ENST00000594947.1	+	3	310	c.166C>G	c.(166-168)Ctg>Gtg	p.L56V	ZNF257_ENST00000600162.1_Missense_Mutation_p.L56V	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	56	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)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				GATCACCTGTCTGGAGCAAGG	0.423																																							uc010ecx.2		NA																	0					0						c.(166-168)CTG>GTG		zinc finger protein 257							138.0	152.0	147.0					19																	22256306		2203	4300	6503	SO:0001583	missense	113835				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22256306C>G	AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.166C>G	19.37:g.22256306C>G	ENSP00000470209:p.Leu56Val					ZNF257_uc010ecy.2_Missense_Mutation_p.L24V	p.L56V	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN			3	335	+		all_lung(12;0.0961)|Lung NSC(12;0.103)	56			KRAB.		B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	ENST00000594947.1	37	c.166C>G	CCDS46030.1	.	.	.	.	.	.	.	.	.	.	C	10.68	1.417914	0.25552	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	0.86	-0.391	0.12446	Krueppel-associated box (3);	.	.	.	.	T	0.55146	0.1902	M	0.81341	2.54	0.09310	N	1	D	0.69078	0.997	D	0.63033	0.91	T	0.44298	-0.9337	8	0.87932	D	0	.	2.7035	0.05156	0.0:0.5595:0.0:0.4405	.	56	Q9Y2Q1	ZN257_HUMAN	V	56	.	ENSP00000380312:L56V	L	+	1	2	ZNF257	22048146	0.023000	0.18921	0.172000	0.22920	0.174000	0.22865	-0.721000	0.04963	0.300000	0.22699	0.306000	0.20318	CTG		0.423	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1			22	69	0	0	0	0.007291	0	22	69				
CCDC8	83987	broad.mit.edu	37	19	46914959	46914959	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr19:46914959T>C	ENST00000307522.3	-	1	1882	c.1109A>G	c.(1108-1110)gAg>gGg	p.E370G		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	370					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		AGCTGGGGCCTCTGCCCTCTG	0.607																																							uc002pep.2		NA																	0				ovary(3)	3						c.(1108-1110)GAG>GGG		coiled-coil domain containing 8							123.0	122.0	122.0					19																	46914959		2203	4300	6503	SO:0001583	missense	83987					plasma membrane		g.chr19:46914959T>C	BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25367	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 20"""	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.1109A>G	19.37:g.46914959T>C	ENSP00000303158:p.Glu370Gly						p.E370G	NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)	1	1961	-			370					Q8TB26	Missense_Mutation	SNP	ENST00000307522.3	37	c.1109A>G	CCDS12685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.91|15.91	2.971482|2.971482	0.53614|0.53614	.|.	.|.	ENSG00000169515|ENSG00000169515	ENST00000307522|ENST00000540252	T|.	0.16897|.	2.31|.	3.24|3.24	-0.0364|-0.0364	0.13888|0.13888	.|.	0.000000|.	0.36740|.	N|.	0.002439|.	T|T	0.50888|0.50888	0.1642|0.1642	M|M	0.72894|0.72894	2.215|2.215	0.31196|0.31196	N|N	0.700308|0.700308	B|.	0.27910|.	0.193|.	B|.	0.24701|.	0.055|.	T|T	0.55023|0.55023	-0.8205|-0.8205	10|5	0.54805|.	T|.	0.06|.	-17.6206|-17.6206	6.7923|6.7923	0.23707|0.23707	0.0:0.3385:0.0:0.6615|0.0:0.3385:0.0:0.6615	.|.	370|.	Q9H0W5|.	CCDC8_HUMAN|.	G|G	370|217	ENSP00000303158:E370G|.	ENSP00000303158:E370G|.	E|R	-|-	2|1	0|2	CCDC8|CCDC8	51606799|51606799	0.001000|0.001000	0.12720|0.12720	0.017000|0.017000	0.16124|0.16124	0.019000|0.019000	0.09904|0.09904	0.551000|0.551000	0.23361|0.23361	-0.081000|-0.081000	0.12662|0.12662	0.260000|0.260000	0.18958|0.18958	GAG|AGG		0.607	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368598.1	NM_032040		4	103	0	0	0	0.009096	0	4	103				
DHDH	27294	broad.mit.edu	37	19	49438276	49438276	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr19:49438276G>T	ENST00000221403.2	+	2	150	c.110G>T	c.(109-111)cGc>cTc	p.R37L	DHDH_ENST00000522614.1_Missense_Mutation_p.R37L|DHDH_ENST00000523250.1_Missense_Mutation_p.R37L	NM_014475.3	NP_055290.1	Q9UQ10	DHDH_HUMAN	dihydrodiol dehydrogenase (dimeric)	37					carbohydrate metabolic process (GO:0005975)|D-xylose catabolic process (GO:0042843)		D-xylose 1-dehydrogenase (NADP+) activity (GO:0047837)|electron carrier activity (GO:0009055)|NAD(P)+ transhydrogenase activity (GO:0008746)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			central_nervous_system(1)|large_intestine(3)|lung(3)|ovary(1)|soft_tissue(1)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)		GTGGCGGCCCGCGATCTGAGC	0.632																																							uc002ple.1		NA																	0					0						c.(109-111)CGC>CTC		dimeric dihydrodiol dehydrogenase							24.0	20.0	22.0					19																	49438276		2196	4289	6485	SO:0001583	missense	27294				carbohydrate metabolic process		binding|D-xylose 1-dehydrogenase (NADP+) activity|electron carrier activity|NAD(P)+ transhydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity	g.chr19:49438276G>T	AB021933	CCDS12741.1	19q13.3	2008-02-05			ENSG00000104808	ENSG00000104808	1.3.1.20		17887	protein-coding gene	gene with protein product		606377				10477285	Standard	NM_014475		Approved	HUM2DD	uc002ple.1	Q9UQ10	OTTHUMG00000165029	ENST00000221403.2:c.110G>T	19.37:g.49438276G>T	ENSP00000221403:p.Arg37Leu						p.R37L	NM_014475	NP_055290	Q9UQ10	DHDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)	2	150	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	37						Missense_Mutation	SNP	ENST00000221403.2	37	c.110G>T	CCDS12741.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.872975	0.51695	.	.	ENSG00000104808	ENST00000221403;ENST00000523250;ENST00000522614	T;T;T	0.25579	1.79;1.79;1.79	4.99	3.92	0.45320	Oxidoreductase, N-terminal (1);NAD(P)-binding domain (1);	0.054693	0.64402	D	0.000002	T	0.61135	0.2323	H	0.96691	3.865	0.48975	D	0.999737	D	0.69078	0.997	D	0.69479	0.964	T	0.72443	-0.4292	10	0.87932	D	0	-22.8341	10.6847	0.45835	0.0981:0.0:0.9019:0.0	.	37	Q9UQ10	DHDH_HUMAN	L	37	ENSP00000221403:R37L;ENSP00000428935:R37L;ENSP00000428672:R37L	ENSP00000221403:R37L	R	+	2	0	DHDH	54130088	1.000000	0.71417	0.546000	0.28166	0.009000	0.06853	8.351000	0.90072	1.398000	0.46701	0.563000	0.77884	CGC		0.632	DHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381477.1	NM_014475		3	3	1	0	0.00024832	0.009096	0.000272546	3	3				
SIGLEC12	89858	broad.mit.edu	37	19	52003556	52003556	+	Splice_Site	SNP	T	T	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr19:52003556T>A	ENST00000291707.3	-	2	483		c.e2-2		SIGLEC12_ENST00000598614.1_Silent_p.T24T	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)						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)		CCTGGGACGCTGTGGAGAAAC	0.602																																							uc002pwx.1		NA																	0				ovary(3)|skin(2)	5						c.e2-1		sialic acid binding immunoglobulin-like							61.0	55.0	57.0					19																	52003556		2203	4300	6503	SO:0001630	splice_region_variant	89858				cell adhesion	integral to membrane	sugar binding	g.chr19:52003556T>A	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.428-2A>T	19.37:g.52003556T>A						SIGLEC12_uc002pww.1_Silent_p.T24T|SIGLEC12_uc010eoy.1_Intron	p.A143_splice	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)	2	484	-		all_neural(266;0.0199)						Q8IYH7	Splice_Site	SNP	ENST00000291707.3	37	c.428_splice	CCDS12833.1	.	.	.	.	.	.	.	.	.	.	-	4.030	0.003150	0.07866	.	.	ENSG00000254521	ENST00000291707	.	.	.	0.716	0.716	0.18191	.	.	.	.	.	.	.	.	.	.	.	0.21579	N	0.999639	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.7808	0.08680	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SIGLEC12	56695368	0.854000	0.29725	0.008000	0.14137	0.061000	0.15899	2.328000	0.43867	0.581000	0.29539	0.322000	0.21391	.		0.602	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003	Intron	16	34	0	0	0	0.008871	0	16	34				
LILRB2	10288	broad.mit.edu	37	19	54782278	54782278	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr19:54782278G>T	ENST00000391749.4	-	7	1365	c.1094C>A	c.(1093-1095)cCa>cAa	p.P365Q	LILRB2_ENST00000391748.1_Missense_Mutation_p.P365Q|LILRB2_ENST00000314446.5_Missense_Mutation_p.P365Q|LILRB2_ENST00000391746.1_Missense_Mutation_p.P365Q|LILRB2_ENST00000471216.1_5'Flank|LILRB2_ENST00000434421.1_Missense_Mutation_p.P249Q	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	365	Ig-like C2-type 4.				cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TAGACGGAGTGGGGCATCAGC	0.582																																							uc002qfb.2		NA																	0				skin(1)	1						c.(1093-1095)CCA>CAA		leukocyte immunoglobulin-like receptor,							154.0	153.0	153.0					19																	54782278		2203	4300	6503	SO:0001583	missense	10288				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54782278G>T	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.1094C>A	19.37:g.54782278G>T	ENSP00000375629:p.Pro365Gln					LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Missense_Mutation_p.P365Q|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Missense_Mutation_p.P365Q|LILRB2_uc010yet.1_Missense_Mutation_p.P249Q|LILRB2_uc010yeu.1_RNA	p.P365Q	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	7	1360	-	Ovarian(34;0.19)		365			Extracellular (Potential).|Ig-like C2-type 4.		A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	SNP	ENST00000391749.4	37	c.1094C>A	CCDS12886.1	.	.	.	.	.	.	.	.	.	.	G	11.57	1.677340	0.29783	.	.	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000391746;ENST00000434421	T;T;T;T;T	0.03635	3.86;3.86;3.86;3.86;3.86	1.88	0.822	0.18806	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.940580	0.02816	N	0.125013	T	0.20210	0.0486	M	0.88640	2.97	0.09310	N	1	D;D;P	0.56521	0.976;0.976;0.924	D;D;P	0.69654	0.965;0.949;0.839	T	0.04065	-1.0980	10	0.87932	D	0	.	4.456	0.11643	0.2022:0.0:0.7978:0.0	.	365;382;365	A8MU67;E7EVY1;Q8N423	.;.;LIRB2_HUMAN	Q	365;365;365;365;249	ENSP00000375628:P365Q;ENSP00000319960:P365Q;ENSP00000375629:P365Q;ENSP00000375626:P365Q;ENSP00000410117:P249Q	ENSP00000319960:P365Q	P	-	2	0	LILRB2	59474090	0.009000	0.17119	0.006000	0.13384	0.007000	0.05969	1.342000	0.33919	0.388000	0.25054	0.442000	0.29010	CCA		0.582	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			36	90	1	0	2.00842e-17	0.010771	3.14361e-17	36	90				
ZNF776	284309	broad.mit.edu	37	19	58265941	58265941	+	Silent	SNP	T	T	C	rs563977196		TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr19:58265941T>C	ENST00000317178.5	+	3	1706	c.1443T>C	c.(1441-1443)atT>atC	p.I481I	ZNF776_ENST00000489376.1_3'UTR	NM_173632.3	NP_775903.3	Q68DI1	ZN776_HUMAN	zinc finger protein 776	481					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		ATCAGCAGATTCACTCTGGAG	0.448																																							uc002qpx.2		NA																	0				ovary(1)	1						c.(1441-1443)ATT>ATC		zinc finger protein 776							121.0	105.0	111.0					19																	58265941		2203	4300	6503	SO:0001819	synonymous_variant	284309				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58265941T>C	AK095607	CCDS12962.2	19q13.43	2013-01-08			ENSG00000152443	ENSG00000152443		"""Zinc fingers, C2H2-type"", ""-"""	26765	protein-coding gene	gene with protein product							Standard	NM_173632		Approved	FLJ38288		Q68DI1	OTTHUMG00000156943	ENST00000317178.5:c.1443T>C	19.37:g.58265941T>C						ZNF587_uc002qqb.2_Intron|ZNF776_uc002qqa.2_Silent_p.I481I	p.I481I	NM_173632	NP_775903	Q68DI1	ZN776_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)	3	1666	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	481			C2H2-type 10; degenerate.		Q6ZS36|Q8N968	Silent	SNP	ENST00000317178.5	37	c.1443T>C	CCDS12962.2																																																																																				0.448	ZNF776-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346722.2	NM_173632		3	52	0	0	0	0.009096	0	3	52				
LTBP1	4052	broad.mit.edu	37	2	33572462	33572462	+	Silent	SNP	G	G	C			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr2:33572462G>C	ENST00000404816.2	+	26	4238	c.3885G>C	c.(3883-3885)ggG>ggC	p.G1295G	LTBP1_ENST00000418533.2_Silent_p.G927G|LTBP1_ENST00000404525.1_Silent_p.G916G|LTBP1_ENST00000402934.1_Silent_p.G916G|LTBP1_ENST00000354476.3_Silent_p.G1296G|LTBP1_ENST00000407925.1_Silent_p.G969G|LTBP1_ENST00000390003.4_Silent_p.G970G|LTBP1_ENST00000272273.5_Silent_p.G193G			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1295	EGF-like 14; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TGCTCAGTGGGGTGTGTGGTG	0.517																																							uc002ros.2		NA																	0				ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8						c.(3886-3888)GGG>GGC		latent transforming growth factor beta binding							265.0	235.0	245.0					2																	33572462		2203	4300	6503	SO:0001819	synonymous_variant	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33572462G>C		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.3885G>C	2.37:g.33572462G>C						LTBP1_uc002rot.2_Silent_p.G970G|LTBP1_uc002rou.2_Silent_p.G969G|LTBP1_uc002rov.2_Silent_p.G916G|LTBP1_uc010ymz.1_Silent_p.G927G|LTBP1_uc010yna.1_Silent_p.G874G|LTBP1_uc010ynb.1_Silent_p.G193G	p.G1296G	NM_206943	NP_996826	Q14766	LTBP1_HUMAN			26	3888	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	1295			EGF-like 14; calcium-binding (Potential).		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Silent	SNP	ENST00000404816.2	37	c.3888G>C	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	G	9.381	1.072985	0.20147	.	.	ENSG00000049323	ENST00000415140	.	.	.	5.19	-7.12	0.01537	.	.	.	.	.	T	0.36331	0.0963	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46555	-0.9183	5	0.33141	T	0.24	.	0.5607	0.00678	0.2855:0.1208:0.2516:0.3421	.	.	.	.	A	257	.	ENSP00000388154:G257A	G	+	2	0	LTBP1	33425966	0.734000	0.28142	0.901000	0.35422	0.993000	0.82548	-0.190000	0.09615	-1.089000	0.03073	-0.254000	0.11334	GGG		0.517	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		20	37	0	0	0	0.00333	0	20	37				
STRN	6801	broad.mit.edu	37	2	37088298	37088298	+	Missense_Mutation	SNP	T	T	C	rs112595766		TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr2:37088298T>C	ENST00000263918.4	-	13	1654	c.1646A>G	c.(1645-1647)aAc>aGc	p.N549S	STRN_ENST00000379213.2_Missense_Mutation_p.N500S	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	549					dendrite development (GO:0016358)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|tight junction assembly (GO:0070830)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|estrogen receptor binding (GO:0030331)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				GGGGTCGATGTTGGGATTAGT	0.403																																							uc002rpn.2		NA																	0				skin(1)	1						c.(1645-1647)AAC>AGC		striatin, calmodulin binding protein		T	SER/ASN	1,4405	2.1+/-5.4	0,1,2202	165.0	136.0	146.0		1646	2.7	1.0	2	dbSNP_132	146	1,8599	1.2+/-3.3	0,1,4299	yes	missense	STRN	NM_003162.3	46	0,2,6501	CC,CT,TT		0.0116,0.0227,0.0154	possibly-damaging	549/781	37088298	2,13004	2203	4300	6503	SO:0001583	missense	6801				dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding	g.chr2:37088298T>C	AJ223814	CCDS1784.1	2p22.2	2013-01-10	2001-11-28		ENSG00000115808	ENSG00000115808		"""WD repeat domain containing"""	11424	protein-coding gene	gene with protein product		614765	"""striatin, calmodulin-binding protein"""			9693043, 8769426	Standard	NM_003162		Approved	SG2NA	uc002rpn.3	O43815	OTTHUMG00000100959	ENST00000263918.4:c.1646A>G	2.37:g.37088298T>C	ENSP00000263918:p.Asn549Ser					STRN_uc010ezx.2_Missense_Mutation_p.N512S	p.N549S	NM_003162	NP_003153	O43815	STRN_HUMAN			13	1655	-		Ovarian(717;0.0129)|all_hematologic(82;0.21)	549			WD 2.		Q3KP65|Q53TQ8|Q9NP38	Missense_Mutation	SNP	ENST00000263918.4	37	c.1646A>G	CCDS1784.1	.	.	.	.	.	.	.	.	.	.	T	15.15	2.746906	0.49257	2.27E-4	1.16E-4	ENSG00000115808	ENST00000263918;ENST00000538092;ENST00000379213	T;T	0.64260	-0.09;-0.04	5.16	2.73	0.32206	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	0.48978	0.1530	N	0.17564	0.495	0.80722	D	1	P;B	0.35307	0.494;0.052	B;B	0.42738	0.396;0.099	T	0.44221	-0.9342	10	0.39692	T	0.17	-13.2887	9.631	0.39778	0.0:0.1454:0.0:0.8546	.	500;549	O43815-2;O43815	.;STRN_HUMAN	S	549;524;500	ENSP00000263918:N549S;ENSP00000368513:N500S	ENSP00000263918:N549S	N	-	2	0	STRN	36941802	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	5.161000	0.64935	0.811000	0.34303	0.482000	0.46254	AAC		0.403	STRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218568.1			12	34	0	0	0	0.006122	0	12	34				
ZEB2	9839	broad.mit.edu	37	2	145147526	145147526	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr2:145147526G>T	ENST00000558170.2	-	10	4321	c.3137C>A	c.(3136-3138)tCa>tAa	p.S1046*	ZEB2_ENST00000409487.3_Nonsense_Mutation_p.S1046*|ZEB2_ENST00000539609.3_Nonsense_Mutation_p.S1022*|ZEB2_ENST00000303660.4_Nonsense_Mutation_p.S1046*	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1046					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)		GTGAAGCCTTGAGTGCTCGAT	0.478																																					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.(3136-3138)TCA>TAA		zinc finger homeobox 1b							56.0	56.0	56.0					2																	145147526		2203	4300	6503	SO:0001587	stop_gained	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145147526G>T	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.3137C>A	2.37:g.145147526G>T	ENSP00000454157:p.Ser1046*					ZEB2_uc002tvv.2_Nonsense_Mutation_p.S1040*|ZEB2_uc010zbm.1_Nonsense_Mutation_p.S1017*|ZEB2_uc010fnp.2_Intron	p.S1046*	NM_014795	NP_055610	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	10	3617	-			1046			C2H2-type 6.		A0JP09|B7Z2P2|F5H814|Q9UED1	Nonsense_Mutation	SNP	ENST00000558170.2	37	c.3137C>A	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	G	39	7.692076	0.98434	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487	.	.	.	5.61	4.72	0.59763	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-3.6733	16.3065	0.82849	0.0:0.0:0.8667:0.1333	.	.	.	.	X	1022;1046;1046	.	ENSP00000302501:S1046X	S	-	2	0	ZEB2	144863996	1.000000	0.71417	1.000000	0.80357	0.350000	0.29205	7.633000	0.83260	1.488000	0.48433	-0.169000	0.13324	TCA		0.478	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		10	29	1	0	2.80697e-09	0.010729	3.71511e-09	10	29				
KCNJ3	3760	broad.mit.edu	37	2	155711395	155711395	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr2:155711395A>T	ENST00000295101.2	+	3	1553	c.1076A>T	c.(1075-1077)aAa>aTa	p.K359I	KCNJ3_ENST00000544049.1_3'UTR|KCNJ3_ENST00000493505.1_3'UTR	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	KCNJ3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	359					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to electrical stimulus (GO:0051602)|synaptic transmission (GO:0007268)	external side of plasma membrane (GO:0009897)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	TACAGTGTGAAAGAGCAGGAG	0.413																																							uc002tyv.1		NA																	0				upper_aerodigestive_tract(1)|pancreas(1)	2						c.(1075-1077)AAA>ATA		potassium inwardly-rectifying channel J3	Halothane(DB01159)						111.0	111.0	111.0					2																	155711395		2203	4300	6503	SO:0001583	missense	3760				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr2:155711395A>T	U50964	CCDS2200.1, CCDS58733.1	2q24.1	2011-07-05			ENSG00000162989	ENSG00000162989		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6264	protein-coding gene	gene with protein product		601534				8088798, 16382105	Standard	NM_002239		Approved	Kir3.1, GIRK1, KGA	uc002tyv.2	P48549	OTTHUMG00000131937	ENST00000295101.2:c.1076A>T	2.37:g.155711395A>T	ENSP00000295101:p.Lys359Ile					KCNJ3_uc010zce.1_3'UTR	p.K359I	NM_002239	NP_002230	P48549	IRK3_HUMAN			3	1271	+			359			Cytoplasmic (By similarity).		B4DEW7|Q8TBI0	Missense_Mutation	SNP	ENST00000295101.2	37	c.1076A>T	CCDS2200.1	.	.	.	.	.	.	.	.	.	.	A	18.87	3.714888	0.68844	.	.	ENSG00000162989	ENST00000295101	D	0.94497	-3.44	5.7	5.7	0.88788	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.97489	0.9178	M	0.90759	3.145	0.80722	D	1	D	0.55800	0.973	D	0.64687	0.928	D	0.98296	1.0516	10	0.87932	D	0	.	15.1574	0.72755	1.0:0.0:0.0:0.0	.	359	P48549	IRK3_HUMAN	I	359	ENSP00000295101:K359I	ENSP00000295101:K359I	K	+	2	0	KCNJ3	155419641	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.576000	0.82467	2.184000	0.69523	0.528000	0.53228	AAA		0.413	KCNJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254890.2	NM_002239		17	45	0	0	0	0.00499	0	17	45				
ACVR1C	130399	broad.mit.edu	37	2	158406754	158406754	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr2:158406754C>A	ENST00000243349.8	-	4	1055	c.695G>T	c.(694-696)tGg>tTg	p.W232L	ACVR1C_ENST00000409680.3_Missense_Mutation_p.W182L|ACVR1C_ENST00000335450.7_Missense_Mutation_p.W152L|ACVR1C_ENST00000348328.5_Intron	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2			activin A receptor, type IC											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						CTCACGAAACCAAGATCTTTC	0.428																																							uc002tzk.3		NA																	0				lung(3)|ovary(2)|skin(2)	7						c.(694-696)TGG>TTG		activin A receptor, type IC isoform 1							168.0	166.0	167.0					2																	158406754		2203	4300	6503	SO:0001583	missense	130399				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity	g.chr2:158406754C>A	BC022530	CCDS2205.1, CCDS46432.1, CCDS46433.1, CCDS46434.1	2q24.2	2008-02-05			ENSG00000123612	ENSG00000123612			18123	protein-coding gene	gene with protein product		608981					Standard	NM_145259		Approved	ALK7, ACVRLK7	uc002tzk.4	Q8NER5	OTTHUMG00000131964	ENST00000243349.8:c.695G>T	2.37:g.158406754C>A	ENSP00000243349:p.Trp232Leu					ACVR1C_uc002tzl.3_Missense_Mutation_p.W152L|ACVR1C_uc010fof.2_Intron|ACVR1C_uc010foe.2_Missense_Mutation_p.W182L	p.W232L	NM_145259	NP_660302	Q8NER5	ACV1C_HUMAN			4	938	-			232			Protein kinase.|Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000243349.8	37	c.695G>T	CCDS2205.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.281656	0.80692	.	.	ENSG00000123612	ENST00000243349;ENST00000409680;ENST00000335450	D;D;D	0.92299	-3.01;-3.01;-3.01	6.16	6.16	0.99307	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.51477	D	0.000100	D	0.95909	0.8668	M	0.69185	2.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95449	0.8532	10	0.87932	D	0	.	20.4549	0.99139	0.0:1.0:0.0:0.0	.	152;232	Q8NER5-3;Q8NER5	.;ACV1C_HUMAN	L	232;182;152	ENSP00000243349:W232L;ENSP00000387168:W182L;ENSP00000335178:W152L	ENSP00000243349:W232L	W	-	2	0	ACVR1C	158115000	1.000000	0.71417	1.000000	0.80357	0.367000	0.29736	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	TGG		0.428	ACVR1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254924.2	NM_145259		16	44	1	0	2.4624e-09	0.008871	3.3077e-09	16	44				
PDE11A	50940	broad.mit.edu	37	2	178682641	178682641	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr2:178682641C>T	ENST00000286063.6	-	8	1905	c.1588G>A	c.(1588-1590)Gtg>Atg	p.V530M	PDE11A_ENST00000449286.2_Missense_Mutation_p.V172M|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000409504.1_Missense_Mutation_p.V172M|PDE11A_ENST00000358450.4_Missense_Mutation_p.V280M|PDE11A_ENST00000389683.3_Missense_Mutation_p.V86M	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	530	GAF 2.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	CTGTTTAACACTTGAGCCACT	0.378									Primary Pigmented Nodular Adrenocortical Disease, Familial																														uc002ulq.2		NA																	0				ovary(3)|large_intestine(1)	4						c.(1588-1590)GTG>ATG		phosphodiesterase 11A isoform 4							87.0	93.0	91.0					2																	178682641		2202	4300	6502	SO:0001583	missense	50940	Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr2:178682641C>T	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.1588G>A	2.37:g.178682641C>T	ENSP00000286063:p.Val530Met					PDE11A_uc002ulp.2_Missense_Mutation_p.V86M|PDE11A_uc002ulr.2_Missense_Mutation_p.V280M|PDE11A_uc002uls.1_Missense_Mutation_p.V172M|PDE11A_uc002ult.1_Missense_Mutation_p.V280M|PDE11A_uc002ulu.1_Missense_Mutation_p.V172M	p.V530M	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		8	1906	-			530			GAF 2.		Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	ENST00000286063.6	37	c.1588G>A	CCDS33334.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.105832	0.56291	.	.	ENSG00000128655	ENST00000286063;ENST00000358450;ENST00000409504;ENST00000389683;ENST00000449286	T;T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42;-0.42	5.82	5.82	0.92795	GAF (2);	0.248972	0.41001	D	0.000963	T	0.64371	0.2592	N	0.04260	-0.245	0.80722	D	1	D;D	0.59357	0.985;0.978	P;P	0.61397	0.865;0.888	T	0.72257	-0.4346	10	0.52906	T	0.07	.	18.8801	0.92352	0.0:1.0:0.0:0.0	.	280;530	Q9HCR9-2;Q9HCR9	.;PDE11_HUMAN	M	530;280;172;86;172	ENSP00000286063:V530M;ENSP00000351232:V280M;ENSP00000386539:V172M;ENSP00000374333:V86M;ENSP00000390599:V172M	ENSP00000286063:V530M	V	-	1	0	PDE11A	178390887	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.552000	0.60747	2.756000	0.94617	0.563000	0.77884	GTG		0.378	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2			5	23	0	0	0	0.00308	0	5	23				
MARS2	92935	broad.mit.edu	37	2	198570447	198570447	+	Silent	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr2:198570447G>T	ENST00000282276.6	+	1	361	c.318G>T	c.(316-318)gcG>gcT	p.A106A	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	106					cell death (GO:0008219)|gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	CAGCTACCGCGGGCCTGGCCC	0.662																																							uc002uuq.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(316-318)GCG>GCT		methionine-tRNA synthetase 2 precursor	L-Methionine(DB00134)						21.0	25.0	24.0					2																	198570447		2202	4298	6500	SO:0001819	synonymous_variant	92935				methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity	g.chr2:198570447G>T	BC009115	CCDS33358.1	2q33.1	2014-01-30	2007-02-26		ENSG00000247626	ENSG00000247626	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	25133	protein-coding gene	gene with protein product	"""methionine tRNA ligase 2, mitochondrial"""	609728				15274629	Standard	NM_138395		Approved	mtMetRS, SPAX3	uc002uuq.3	Q96GW9	OTTHUMG00000154487	ENST00000282276.6:c.318G>T	2.37:g.198570447G>T						uc002uup.2_Intron	p.A106A	NM_138395	NP_612404	Q96GW9	SYMM_HUMAN			1	361	+			106					A0AVC3|Q76E79|Q8IW62|Q8N7N4	Silent	SNP	ENST00000282276.6	37	c.318G>T	CCDS33358.1																																																																																				0.662	MARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335477.1	NM_138395		15	26	1	0	2.23348e-06	0.004007	2.69817e-06	15	26				
EPHA4	2043	broad.mit.edu	37	2	222294680	222294680	+	Silent	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr2:222294680G>T	ENST00000281821.2	-	15	2729	c.2688C>A	c.(2686-2688)tcC>tcA	p.S896S	EPHA4_ENST00000409854.1_Silent_p.S896S|EPHA4_ENST00000392071.4_Silent_p.S845S|EPHA4_ENST00000409938.1_Silent_p.S896S	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	896					adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TGGCTGACCTGGAGCTCTCCG	0.488																																							uc002vmq.2		NA																	0				lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12						c.(2686-2688)TCC>TCA		ephrin receptor EphA4 precursor							189.0	186.0	187.0					2																	222294680		2203	4300	6503	SO:0001819	synonymous_variant	2043					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr2:222294680G>T	L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.2688C>A	2.37:g.222294680G>T						EPHA4_uc002vmr.2_Silent_p.S896S|EPHA4_uc010zlm.1_Silent_p.S837S|EPHA4_uc010zln.1_Silent_p.S896S	p.S896S	NM_004438	NP_004429	P54764	EPHA4_HUMAN		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)	15	2730	-		Renal(207;0.0183)	896			Cytoplasmic (Potential).		A8K2P1|B2R601|B7Z6Q8|Q2M380	Silent	SNP	ENST00000281821.2	37	c.2688C>A	CCDS2447.1																																																																																				0.488	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3			41	90	1	0	5.82388e-19	0.01441	9.35981e-19	41	90				
SLC19A3	80704	broad.mit.edu	37	2	228552263	228552263	+	Silent	SNP	T	T	C			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr2:228552263T>C	ENST00000258403.3	-	6	1412	c.1341A>G	c.(1339-1341)gcA>gcG	p.A447A	SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_Silent_p.A443A	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	447					small molecule metabolic process (GO:0044281)|thiamine transmembrane transport (GO:0071934)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thiamine uptake transmembrane transporter activity (GO:0015403)	p.A447A(1)		breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	CAGCAATTACTGCAAAATAGC	0.353																																							uc002vpi.2		NA																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(2)	2						c.(1339-1341)GCA>GCG		solute carrier family 19, member 3	L-Cysteine(DB00151)						96.0	96.0	96.0					2																	228552263		2203	4300	6503	SO:0001819	synonymous_variant	80704				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity	g.chr2:228552263T>C	AF271633	CCDS2468.1	2q37	2013-07-18	2013-07-18		ENSG00000135917	ENSG00000135917		"""Solute carriers"""	16266	protein-coding gene	gene with protein product	"""thiamine transporter 2"""	606152	"""solute carrier family 19, member 3"""			11136550, 15871139	Standard	XM_005246871		Approved	THTR2	uc002vpi.3	Q9BZV2	OTTHUMG00000133185	ENST00000258403.3:c.1341A>G	2.37:g.228552263T>C						SLC19A3_uc002vpj.2_RNA|SLC19A3_uc010zlv.1_Silent_p.A443A	p.A447A	NM_025243	NP_079519	Q9BZV2	S19A3_HUMAN		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	6	1430	-		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)	447			Helical; (Potential).			Silent	SNP	ENST00000258403.3	37	c.1341A>G	CCDS2468.1																																																																																				0.353	SLC19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256894.1			7	19	0	0	0	0.004482	0	7	19				
KIF1A	547	broad.mit.edu	37	2	241724433	241724433	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr2:241724433G>C	ENST00000320389.7	-	7	851	c.693C>G	c.(691-693)gaC>gaG	p.D231E	KIF1A_ENST00000498729.2_Missense_Mutation_p.D231E	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	231	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)	p.D231E(1)		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)		TGGTCTCTGCGTCATGGCGCT	0.607																																							uc002vzy.2		NA																	1	Substitution - Missense(1)		kidney(1)	lung(1)	1						c.(691-693)GAC>GAG		axonal transport of synaptic vesicles							256.0	266.0	263.0					2																	241724433		2202	4300	6502	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241724433G>C	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.693C>G	2.37:g.241724433G>C	ENSP00000322791:p.Asp231Glu					KIF1A_uc010fzk.2_Missense_Mutation_p.D231E|KIF1A_uc002vzz.1_Missense_Mutation_p.D231E	p.D231E	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)	7	839	-		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)	231			Kinesin-motor.		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.693C>G	CCDS46561.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.00|13.00	2.106668|2.106668	0.37145|0.37145	.|.	.|.	ENSG00000130294|ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283|ENST00000428768	T;T;T|.	0.74315|.	-0.83;-0.83;-0.83|.	4.04|4.04	-6.54|-6.54	0.01860|0.01860	Kinesin, motor domain (4);|.	0.059543|.	0.64402|.	U|.	0.000004|.	T|T	0.51534|0.51534	0.1680|0.1680	L|L	0.42744|0.42744	1.35|1.35	0.49915|0.49915	D|D	0.99983|0.99983	B;B;B|.	0.21147|.	0.048;0.02;0.052|.	B;B;B|.	0.23716|.	0.048;0.007;0.022|.	T|T	0.56098|0.56098	-0.8035|-0.8035	10|5	0.72032|.	D|.	0.01|.	.|.	12.6682|12.6682	0.56853|0.56853	0.6434:0.0:0.3566:0.0|0.6434:0.0:0.3566:0.0	.|.	231;231;231|.	F5H045;Q12756-2;Q12756|.	.;.;KIF1A_HUMAN|.	E|G	231|39	ENSP00000322791:D231E;ENSP00000438388:D231E;ENSP00000384231:D231E|.	ENSP00000322791:D231E|.	D|R	-|-	3|1	2|0	KIF1A|KIF1A	241373106|241373106	0.001000|0.001000	0.12720|0.12720	0.827000|0.827000	0.32855|0.32855	0.691000|0.691000	0.40173|0.40173	-1.307000|-1.307000	0.02733|0.02733	-1.005000|-1.005000	0.03417|0.03417	-1.166000|-1.166000	0.01754|0.01754	GAC|CGC		0.607	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		26	89	0	0	0	0.012213	0	26	89				
JPH2	57158	broad.mit.edu	37	20	42788419	42788419	+	Silent	SNP	G	G	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr20:42788419G>A	ENST00000372980.3	-	2	1880	c.1008C>T	c.(1006-1008)cgC>cgT	p.R336R		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	336					calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TGCCCTCCTCGCGGTGGCCGT	0.657																																							uc002xli.1		NA																	0					0						c.(1006-1008)CGC>CGT		junctophilin 2 isoform 1							43.0	37.0	39.0					20																	42788419		2203	4300	6503	SO:0001819	synonymous_variant	57158				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr20:42788419G>A	AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.1008C>T	20.37:g.42788419G>A							p.R336R	NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		2	1881	-		Myeloproliferative disorder(115;0.0122)	336			MORN 8.|Cytoplasmic (Potential).		E1P5X1|O95913|Q5JY74|Q9UJN4	Silent	SNP	ENST00000372980.3	37	c.1008C>T	CCDS13325.1																																																																																				0.657	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080307.1			10	27	0	0	0	0.013537	0	10	27				
B4GALT5	9334	broad.mit.edu	37	20	48273160	48273160	+	Nonsense_Mutation	SNP	A	A	C			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr20:48273160A>C	ENST00000371711.4	-	2	382	c.195T>G	c.(193-195)taT>taG	p.Y65*		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	65					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)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			GCACCTGCTCATAAACCTGAG	0.468																																							uc002xuu.3		NA																	0				ovary(1)	1						c.(193-195)TAT>TAG		UDP-Gal:betaGlcNAc beta 1,4-							136.0	123.0	127.0					20																	48273160		2203	4300	6503	SO:0001587	stop_gained	9334				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	galactosyltransferase activity|metal ion binding	g.chr20:48273160A>C	AB004550	CCDS13420.1	20q13.1-q13.2	2013-02-19			ENSG00000158470	ENSG00000158470		"""Beta 4-glycosyltransferases"""	928	protein-coding gene	gene with protein product	"""beta4-GalT IV"""	604016				9597550, 9435216	Standard	NM_004776		Approved	beta4GalT-V	uc002xuu.4	O43286	OTTHUMG00000033086	ENST00000371711.4:c.195T>G	20.37:g.48273160A>C	ENSP00000360776:p.Tyr65*						p.Y65*	NM_004776	NP_004767	O43286	B4GT5_HUMAN	BRCA - Breast invasive adenocarcinoma(9;2.51e-06)		2	389	-			65			Lumenal (Potential).		E1P625|Q2M394|Q9UJQ8	Nonsense_Mutation	SNP	ENST00000371711.4	37	c.195T>G	CCDS13420.1	.	.	.	.	.	.	.	.	.	.	A	36	5.666581	0.96745	.	.	ENSG00000158470	ENST00000371711	.	.	.	5.72	-3.03	0.05429	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.7252	16.397	0.83610	0.3564:0.0:0.6436:0.0	.	.	.	.	X	65	.	ENSP00000360776:Y65X	Y	-	3	2	B4GALT5	47706567	0.306000	0.24490	0.876000	0.34364	0.989000	0.77384	-0.350000	0.07721	-0.901000	0.03891	-0.326000	0.08463	TAT		0.468	B4GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080543.3	NM_004776		12	46	0	0	0	0.001855	0	12	46				
NCF4	4689	broad.mit.edu	37	22	37266471	37266471	+	Silent	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr22:37266471G>T	ENST00000248899.6	+	5	541	c.357G>T	c.(355-357)ctG>ctT	p.L119L	NCF4_ENST00000397147.4_Silent_p.L119L|CTA-833B7.2_ENST00000330602.2_RNA|CTA-833B7.2_ENST00000431290.1_RNA	NM_000631.4	NP_000622.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	119	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				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)|immune response (GO:0006955)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|positive regulation of catalytic activity (GO:0043085)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|membrane (GO:0016020)|NADPH oxidase complex (GO:0043020)|phagolysosome (GO:0032010)	phosphatidylinositol-3-phosphate binding (GO:0032266)|protein dimerization activity (GO:0046983)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16					Dextromethorphan(DB00514)	TGCTCAGCCTGCCGGTCTGGG	0.637																																							uc003apy.3		NA																	0				ovary(1)	1						c.(355-357)CTG>CTT		neutrophil cytosolic factor 4 isoform 1							89.0	77.0	81.0					22																	37266471		2203	4300	6503	SO:0001819	synonymous_variant	4689				cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity	g.chr22:37266471G>T	X77094	CCDS13934.1, CCDS13935.1	22q13.1	2014-09-17	2002-08-29		ENSG00000100365	ENSG00000100365			7662	protein-coding gene	gene with protein product	"""neutrophil NADPH oxidase factor 4"""	601488	"""neutrophil cytosolic factor 4 (40kD)"""			8839867	Standard	NM_013416		Approved	p40phox, SH3PXD4	uc003apy.4	Q15080	OTTHUMG00000150548	ENST00000248899.6:c.357G>T	22.37:g.37266471G>T						NCF4_uc003apz.3_Silent_p.L119L	p.L119L	NM_000631	NP_000622	Q15080	NCF4_HUMAN			5	541	+			119			PX.		A8K4F9|O60808|Q86U56|Q9BU98|Q9NP45	Silent	SNP	ENST00000248899.6	37	c.357G>T	CCDS13934.1																																																																																				0.637	NCF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318863.1	NM_000631		17	36	1	0	6.44725e-10	0.014323	8.85882e-10	17	36				
EIF3L	51386	broad.mit.edu	37	22	38259297	38259297	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr22:38259297C>G	ENST00000412331.2	+	7	1106	c.524C>G	c.(523-525)cCc>cGc	p.P175R	EIF3L_ENST00000476955.1_Intron|EIF3L_ENST00000381683.6_Intron|EIF3L_ENST00000406934.1_Missense_Mutation_p.P77R	NM_016091.3	NP_057175.1			eukaryotic translation initiation factor 3, subunit L											kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GGTCCTGCTCCCCTTGAACTA	0.463																																							uc003auf.2		NA																	0				ovary(1)	1						c.(523-525)CCC>CGC		eukaryotic translation initiation factor 3							148.0	129.0	136.0					22																	38259297		2203	4300	6503	SO:0001583	missense	51386					eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr22:38259297C>G	AF083243	CCDS13960.1, CCDS56230.1	22q	2012-12-20	2009-01-07	2009-01-07	ENSG00000100129	ENSG00000100129			18138	protein-coding gene	gene with protein product			"""eukaryotic translation initiation factor 3, subunit 6 interacting protein"", ""eukaryotic translation initiation factor 3, subunit E interacting protein"""	EIF3S6IP, EIF3EIP		11042152, 11590142	Standard	NM_016091		Approved	HSPC021, HSPC025, EIF3S11	uc003auf.3	Q9Y262	OTTHUMG00000150671	ENST00000412331.2:c.524C>G	22.37:g.38259297C>G	ENSP00000416892:p.Pro175Arg					EIF3L_uc003aue.1_Missense_Mutation_p.P175R|EIF3L_uc011ann.1_Intron|EIF3L_uc003aug.2_Missense_Mutation_p.P67R	p.P175R	NM_016091	NP_057175	Q9Y262	EIF3L_HUMAN			7	611	+			175						Missense_Mutation	SNP	ENST00000412331.2	37	c.524C>G	CCDS13960.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.471167	0.84533	.	.	ENSG00000100129	ENST00000412331;ENST00000425539;ENST00000262832;ENST00000406934	T;T	0.41065	1.01;1.01	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.34366	0.0895	L	0.41573	1.285	0.80722	D	1	B;B;P	0.34837	0.08;0.307;0.472	B;B;B	0.27715	0.062;0.046;0.082	T	0.11542	-1.0583	10	0.27785	T	0.31	-24.1086	18.6572	0.91458	0.0:1.0:0.0:0.0	.	77;175;218	B0QY90;Q9Y262;B0QY89	.;EIF3L_HUMAN;.	R	175;218;142;77	ENSP00000416892:P175R;ENSP00000384634:P77R	ENSP00000262832:P142R	P	+	2	0	EIF3L	36589243	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.331000	0.79192	2.469000	0.83416	0.467000	0.42956	CCC		0.463	EIF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319551.2	NM_016091		21	39	0	0	0	0.00632	0	21	39				
ZC3H7B	23264	broad.mit.edu	37	22	41734353	41734353	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr22:41734353G>C	ENST00000352645.4	+	8	876	c.619G>C	c.(619-621)Gaa>Caa	p.E207Q	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.E207Q	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	207					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						AGATGACATCGAAACAGGTAA	0.607																																							uc003azw.2		NA																	0				central_nervous_system(1)	1						c.(619-621)GAA>CAA		zinc finger CCCH-type containing 7B							59.0	50.0	53.0					22																	41734353		2203	4300	6503	SO:0001583	missense	23264				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr22:41734353G>C		CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.619G>C	22.37:g.41734353G>C	ENSP00000345793:p.Glu207Gln					ZC3H7B_uc010gyl.1_Intron	p.E207Q	NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN			8	835	+			207					A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Missense_Mutation	SNP	ENST00000352645.4	37	c.619G>C	CCDS14013.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.377218	0.61735	.	.	ENSG00000100403	ENST00000352645;ENST00000351589	T;T	0.12147	2.71;2.71	4.83	4.83	0.62350	.	0.463430	0.24447	N	0.038459	T	0.17280	0.0415	L	0.49778	1.585	0.38926	D	0.957843	B	0.17268	0.021	B	0.15484	0.013	T	0.04440	-1.0951	10	0.59425	D	0.04	-6.098	18.1019	0.89508	0.0:0.0:1.0:0.0	.	207	Q9UGR2-2	.	Q	207	ENSP00000345793:E207Q;ENSP00000263243:E207Q	ENSP00000263243:E207Q	E	+	1	0	ZC3H7B	40064299	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	6.692000	0.74578	2.521000	0.84997	0.491000	0.48974	GAA		0.607	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	NM_017590		4	10	0	0	0	0.001984	0	4	10				
MPPED1	758	broad.mit.edu	37	22	43870629	43870629	+	Silent	SNP	C	C	T	rs532827143	byFrequency	TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr22:43870629C>T	ENST00000417669.2	+	4	864	c.420C>T	c.(418-420)taC>taT	p.Y140Y	MPPED1_ENST00000414469.2_Silent_p.Y34Y|MPPED1_ENST00000542779.1_Silent_p.Y140Y|MPPED1_ENST00000443721.1_Silent_p.Y140Y|MPPED1_ENST00000538182.1_Silent_p.Y173Y|MPPED1_ENST00000439548.1_5'UTR			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	140							hydrolase activity (GO:0016787)	p.Y140*(1)		endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				GCCTGCCCTACGAGTACAAGA	0.582													C|||	5	0.000998403	0.0	0.0	5008	,	,		22219	0.001		0.0	False		,,,				2504	0.0041						uc011apv.1		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(418-420)TAC>TAT		metallophosphoesterase domain containing 1							98.0	100.0	100.0					22																	43870629		2116	4250	6366	SO:0001819	synonymous_variant	758						hydrolase activity	g.chr22:43870629C>T	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.420C>T	22.37:g.43870629C>T						MPPED1_uc011apw.1_Silent_p.Y34Y|MPPED1_uc011apx.1_Translation_Start_Site|MPPED1_uc011apy.1_Silent_p.Y140Y|MPPED1_uc011apz.1_Silent_p.Y173Y	p.Y140Y	NM_001044370	NP_001037835	O15442	MPPD1_HUMAN			4	643	+		all_neural(38;0.0244)|Ovarian(80;0.0694)	140					A8K159|B7Z2S9|Q8N361	Silent	SNP	ENST00000417669.2	37	c.420C>T	CCDS46723.1																																																																																				0.582	MPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318938.2	NM_001044370		4	83	0	0	0	0.009096	0	4	83				
MPPED1	758	broad.mit.edu	37	22	43870650	43870650	+	Silent	SNP	A	A	G	rs550402193		TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr22:43870650A>G	ENST00000417669.2	+	4	885	c.441A>G	c.(439-441)gcA>gcG	p.A147A	MPPED1_ENST00000414469.2_Silent_p.A41A|MPPED1_ENST00000542779.1_Silent_p.A147A|MPPED1_ENST00000443721.1_Silent_p.A147A|MPPED1_ENST00000538182.1_Silent_p.A180A|MPPED1_ENST00000439548.1_5'UTR			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	147							hydrolase activity (GO:0016787)	p.A147A(1)		endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				TCGTGATCGCAGGCAACCACG	0.562													A|||	1	0.000199681	0.0	0.0	5008	,	,		23291	0.001		0.0	False		,,,				2504	0.0						uc011apv.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(439-441)GCA>GCG		metallophosphoesterase domain containing 1							132.0	135.0	134.0					22																	43870650		2118	4243	6361	SO:0001819	synonymous_variant	758						hydrolase activity	g.chr22:43870650A>G	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.441A>G	22.37:g.43870650A>G						MPPED1_uc011apw.1_Silent_p.A41A|MPPED1_uc011apx.1_5'UTR|MPPED1_uc011apy.1_Silent_p.A147A|MPPED1_uc011apz.1_Silent_p.A180A	p.A147A	NM_001044370	NP_001037835	O15442	MPPD1_HUMAN			4	664	+		all_neural(38;0.0244)|Ovarian(80;0.0694)	147					A8K159|B7Z2S9|Q8N361	Silent	SNP	ENST00000417669.2	37	c.441A>G	CCDS46723.1																																																																																				0.562	MPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318938.2	NM_001044370		4	113	0	0	0	0.009096	0	4	113				
LRRC2	79442	broad.mit.edu	37	3	46593050	46593050	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr3:46593050G>A	ENST00000395905.3	-	2	424	c.32C>T	c.(31-33)tCt>tTt	p.S11F	LRRC2_ENST00000296144.3_Missense_Mutation_p.S11F|LRRC2_ENST00000496388.1_Intron|AC104304.2_ENST00000583198.1_RNA	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	11										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		TCTGATGACAGAAATGTCGAA	0.413																																							uc010hji.2		NA																	0				ovary(1)	1						c.(31-33)TCT>TTT		leucine rich repeat containing 2							113.0	109.0	111.0					3																	46593050		2203	4300	6503	SO:0001583	missense	79442							g.chr3:46593050G>A	AJ308569	CCDS2741.1	3p21.3	2014-07-30	2003-11-19		ENSG00000163827	ENSG00000163827			14676	protein-coding gene	gene with protein product		607180	"""leucine-rich repeat-containing 2"""			11896456	Standard	NM_024512		Approved		uc010hji.3	Q9BYS8	OTTHUMG00000133479	ENST00000395905.3:c.32C>T	3.37:g.46593050G>A	ENSP00000379241:p.Ser11Phe					LRRC2_uc003cpu.3_Missense_Mutation_p.S11F	p.S11F	NM_024512	NP_078788	Q9BYS8	LRRC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)	2	396	-		Ovarian(412;0.0563)	11					B2RDQ7|Q96LT5	Missense_Mutation	SNP	ENST00000395905.3	37	c.32C>T	CCDS2741.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.104307	0.76983	.	.	ENSG00000163827	ENST00000395905;ENST00000296144	T;T	0.24350	1.86;1.86	4.63	4.63	0.57726	.	0.100767	0.42821	D	0.000651	T	0.35885	0.0947	L	0.34521	1.04	0.53688	D	0.999976	D	0.64830	0.994	P	0.59288	0.855	T	0.12553	-1.0543	10	0.87932	D	0	.	15.3894	0.74731	0.0:0.0:1.0:0.0	.	11	Q9BYS8	LRRC2_HUMAN	F	11	ENSP00000379241:S11F;ENSP00000296144:S11F	ENSP00000296144:S11F	S	-	2	0	LRRC2	46568054	1.000000	0.71417	0.772000	0.31596	0.983000	0.72400	5.919000	0.70005	2.567000	0.86603	0.655000	0.94253	TCT		0.413	LRRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257375.2			9	38	0	0	0	0.010729	0	9	38				
COL7A1	1294	broad.mit.edu	37	3	48622506	48622506	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr3:48622506G>A	ENST00000328333.8	-	32	4045	c.3938C>T	c.(3937-3939)gCc>gTc	p.A1313V	COL7A1_ENST00000454817.1_Missense_Mutation_p.A1313V	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1313	Interrupted collagenous region.|Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGGATTCCCGGCGCGGCCAGG	0.682																																							uc003ctz.2		NA																	0				ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11						c.(3937-3939)GCC>GTC		alpha 1 type VII collagen precursor							26.0	32.0	30.0					3																	48622506		2202	4299	6501	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48622506G>A	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.3938C>T	3.37:g.48622506G>A	ENSP00000332371:p.Ala1313Val						p.A1313V	NM_000094	NP_000085	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	32	3939	-			1313			Triple-helical region.|Interrupted collagenous region.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.3938C>T	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.554336	0.45487	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.93712	-3.27;-3.27	4.6	4.6	0.57074	.	0.472699	0.17607	N	0.168225	D	0.88702	0.6508	N	0.17312	0.475	0.24219	N	0.995441	B	0.17852	0.024	B	0.26416	0.069	T	0.81413	-0.0944	10	0.59425	D	0.04	.	16.4769	0.84135	0.0:0.0:1.0:0.0	.	1313	Q02388	CO7A1_HUMAN	V	1313	ENSP00000332371:A1313V;ENSP00000412569:A1313V	ENSP00000332371:A1313V	A	-	2	0	COL7A1	48597510	0.999000	0.42202	0.037000	0.18230	0.002000	0.02628	4.634000	0.61325	2.489000	0.83994	0.655000	0.94253	GCC		0.682	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		8	8	0	0	0	0.010729	0	8	8				
MAPKAPK3	7867	broad.mit.edu	37	3	50685429	50685429	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr3:50685429A>T	ENST00000446044.1	+	13	1697	c.1101A>T	c.(1099-1101)aaA>aaT	p.K367N	MAPKAPK3_ENST00000357955.2_Missense_Mutation_p.K367N	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	367	p38 MAPK-binding site. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|innate immune response (GO:0045087)|macropinocytosis (GO:0044351)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|Ras protein signal transduction (GO:0007265)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		AGAGGAGAAAAAAGCAGGCAG	0.552																																							uc003day.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1099-1101)AAA>AAT		mitogen-activated protein kinase-activated							78.0	78.0	78.0					3																	50685429		2203	4300	6503	SO:0001583	missense	7867				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras 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	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity	g.chr3:50685429A>T	U43784	CCDS2832.1	3p21.3	2004-03-10			ENSG00000114738	ENSG00000114738			6888	protein-coding gene	gene with protein product		602130				8626550, 8622688	Standard	NM_004635		Approved	3pK, MAPKAP3, 3PK	uc003dba.2	Q16644	OTTHUMG00000156850	ENST00000446044.1:c.1101A>T	3.37:g.50685429A>T	ENSP00000396467:p.Lys367Asn					MAPKAPK3_uc003daz.1_Missense_Mutation_p.K367N|MAPKAPK3_uc003dba.1_Missense_Mutation_p.K367N|MAPKAPK3_uc010hlr.1_Missense_Mutation_p.K367N	p.K367N	NM_004635	NP_004626	Q16644	MAPK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)	13	1697	+			367					B5BU67	Missense_Mutation	SNP	ENST00000446044.1	37	c.1101A>T	CCDS2832.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.41|17.41	3.381893|3.381893	0.61845|0.61845	.|.	.|.	ENSG00000114738|ENSG00000114738	ENST00000446044;ENST00000357955|ENST00000451680	T;T|.	0.68765|.	-0.35;-0.35|.	5.88|5.88	1.23|1.23	0.21249|0.21249	.|.	0.050714|0.050714	0.85682|0.85682	D|D	0.000000|0.000000	T|.	0.58047|.	0.2095|.	L|L	0.52206|0.52206	1.635|1.635	0.58432|0.58432	D|D	0.999993|0.999993	P|.	0.45428|.	0.858|.	P|.	0.50314|.	0.637|.	T|.	0.55477|.	-0.8135|.	10|.	0.48119|0.48119	T|T	0.1|0.1	-29.9576|-29.9576	10.1212|10.1212	0.42621|0.42621	0.4242:0.0:0.5758:0.0|0.4242:0.0:0.5758:0.0	.|.	367|.	Q16644|.	MAPK3_HUMAN|.	N|X	367|82	ENSP00000396467:K367N;ENSP00000350639:K367N|.	ENSP00000350639:K367N|ENSP00000394894:K82X	K|K	+|+	3|1	2|0	MAPKAPK3|MAPKAPK3	50660433|50660433	0.997000|0.997000	0.39634|0.39634	0.999000|0.999000	0.59377|0.59377	0.996000|0.996000	0.88848|0.88848	0.455000|0.455000	0.21843|0.21843	0.235000|0.235000	0.21160|0.21160	0.533000|0.533000	0.62120|0.62120	AAA|AAA		0.552	MAPKAPK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346237.1	NM_004635		6	23	0	0	0	0.001984	0	6	23				
ALDH1L1	10840	broad.mit.edu	37	3	125843207	125843207	+	Splice_Site	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr3:125843207C>A	ENST00000393434.2	-	16	2237	c.1888G>T	c.(1888-1890)Ggc>Tgc	p.G630C	ALDH1L1_ENST00000472186.1_Splice_Site_p.G630C|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000452905.2_Splice_Site_p.G529C|ALDH1L1_ENST00000273450.3_Splice_Site_p.G640C	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	630	Aldehyde dehydrogenase.				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)	TGGCTCTTACCAGATCCTGGG	0.592																																							uc003eim.1		NA																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(1888-1890)GGC>TGC		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)						123.0	122.0	122.0					3																	125843207		2203	4300	6503	SO:0001630	splice_region_variant	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125843207C>A	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.1888+1G>T	3.37:g.125843207C>A						ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Missense_Mutation_p.G529C	p.G630C	NM_012190	NP_036322	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	16	2078	-			630			Aldehyde dehydrogenase.		B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	37	c.1888G>T	CCDS3034.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.072025	0.55646	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434	T;T;T;T	0.11821	2.74;2.74;2.74;2.74	4.41	4.41	0.53225	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.58481	0.2125	H	0.99732	4.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78471	-0.2191	9	.	.	.	.	14.5752	0.68240	0.0:1.0:0.0:0.0	.	529;630	E9PBX3;O75891	.;AL1L1_HUMAN	C	640;630;529;630	ENSP00000273450:G640C;ENSP00000420293:G630C;ENSP00000395881:G529C;ENSP00000377083:G630C	.	G	-	1	0	ALDH1L1	127325897	1.000000	0.71417	1.000000	0.80357	0.083000	0.17756	7.074000	0.76791	2.287000	0.76781	0.586000	0.80456	GGC		0.592	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190	Missense_Mutation	20	85	1	0	1.50039e-11	0.012319	2.12654e-11	20	85				
SLC9A9	285195	broad.mit.edu	37	3	143513867	143513867	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr3:143513867G>A	ENST00000316549.6	-	4	717	c.509C>T	c.(508-510)aCt>aTt	p.T170I		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	170					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						GGAGATGGCAGTTCCCAAGAA	0.418																																							uc003evn.2		NA																	0				ovary(2)|skin(1)	3						c.(508-510)ACT>ATT		solute carrier family 9 (sodium/hydrogen							113.0	107.0	109.0					3																	143513867		2203	4300	6503	SO:0001583	missense	285195				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	g.chr3:143513867G>A	AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.509C>T	3.37:g.143513867G>A	ENSP00000320246:p.Thr170Ile					SLC9A9_uc011bnk.1_Missense_Mutation_p.T44I	p.T170I	NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN			4	691	-			170			Helical; (Potential).		A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Missense_Mutation	SNP	ENST00000316549.6	37	c.509C>T	CCDS33872.1	.	.	.	.	.	.	.	.	.	.	G	33	5.239318	0.95240	.	.	ENSG00000181804	ENST00000316549;ENST00000450105;ENST00000474151	T;D	0.89270	2.45;-2.49	6.07	6.07	0.98685	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	D	0.96901	0.8988	H	0.97540	4.025	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97593	1.0118	10	0.87932	D	0	.	19.4153	0.94694	0.0:0.0:1.0:0.0	.	170	Q8IVB4	SL9A9_HUMAN	I	170;53;144	ENSP00000320246:T170I;ENSP00000418627:T144I	ENSP00000320246:T170I	T	-	2	0	SLC9A9	144996557	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	8.462000	0.90374	2.890000	0.99128	0.650000	0.86243	ACT		0.418	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653		3	71	0	0	0	0.000602	0	3	71				
BCHE	590	broad.mit.edu	37	3	165548239	165548239	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr3:165548239C>A	ENST00000264381.3	-	2	749	c.583G>T	c.(583-585)Ggt>Tgt	p.G195C	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	195					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	TCAAATAAACCCATGTTCCCT	0.443																																							uc003fem.3		NA																	0				ovary(3)|pancreas(1)	4						c.(583-585)GGT>TGT		butyrylcholinesterase precursor	Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)						71.0	75.0	74.0					3																	165548239		2203	4300	6503	SO:0001583	missense	590				choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	g.chr3:165548239C>A	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.583G>T	3.37:g.165548239C>A	ENSP00000264381:p.Gly195Cys					BCHE_uc003fen.3_Intron	p.G195C	NM_000055	NP_000046	P06276	CHLE_HUMAN			2	743	-			195					A8K7P8	Missense_Mutation	SNP	ENST00000264381.3	37	c.583G>T	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.093986	0.76870	.	.	ENSG00000114200	ENST00000264381	D	0.83163	-1.69	5.86	5.86	0.93980	Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	D	0.95868	0.8655	H	0.99642	4.675	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97614	1.0131	10	0.87932	D	0	.	19.1901	0.93663	0.0:1.0:0.0:0.0	.	195	P06276	CHLE_HUMAN	C	195	ENSP00000264381:G195C	ENSP00000264381:G195C	G	-	1	0	BCHE	167030933	1.000000	0.71417	0.884000	0.34674	0.997000	0.91878	7.518000	0.81795	2.776000	0.95493	0.655000	0.94253	GGT		0.443	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			10	19	1	0	0.00829132	0.008291	0.0086268	10	19				
SLC2A2	6514	broad.mit.edu	37	3	170732306	170732306	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr3:170732306C>T	ENST00000314251.3	-	3	402	c.323G>A	c.(322-324)gGa>gAa	p.G108E	SLC2A2_ENST00000382808.4_Intron	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	108					carbohydrate metabolic process (GO:0005975)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transmembrane transport (GO:0035428)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	brush border (GO:0005903)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|hexose transmembrane transporter activity (GO:0015149)			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		Streptozocin(DB00428)	TGCAGTCATTCCACCAACTGC	0.448																																							uc003fhe.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(322-324)GGA>GAA		solute carrier family 2 (facilitated glucose							178.0	162.0	167.0					3																	170732306		2203	4300	6503	SO:0001583	missense	6514				carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity	g.chr3:170732306C>T	J03810	CCDS3215.1	3q26.2-q27	2013-05-22			ENSG00000163581	ENSG00000163581		"""Solute carriers"""	11006	protein-coding gene	gene with protein product		138160		GLUT2		1852621	Standard	NM_000340		Approved		uc003fhe.1	P11168	OTTHUMG00000158997	ENST00000314251.3:c.323G>A	3.37:g.170732306C>T	ENSP00000323568:p.Gly108Glu					SLC2A2_uc003fhf.1_5'UTR|SLC2A2_uc011bpu.1_Intron	p.G108E	NM_000340	NP_000331	P11168	GTR2_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		3	632	-	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		108			Helical; Name=2; (Potential).		A8K481|B2R936|B7Z547|F8W8V8|Q9UCW9	Missense_Mutation	SNP	ENST00000314251.3	37	c.323G>A	CCDS3215.1	.	.	.	.	.	.	.	.	.	.	C	34	5.323778	0.95708	.	.	ENSG00000163581	ENST00000314251	T	0.74315	-0.83	6.08	6.08	0.98989	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.045228	0.85682	N	0.000000	D	0.92743	0.7693	H	0.98701	4.305	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94802	0.7971	10	0.87932	D	0	.	20.2738	0.98482	0.0:1.0:0.0:0.0	.	108	P11168	GTR2_HUMAN	E	108	ENSP00000323568:G108E	ENSP00000323568:G108E	G	-	2	0	SLC2A2	172215000	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.369000	0.79578	2.894000	0.99253	0.655000	0.94253	GGA		0.448	SLC2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352834.1	NM_000340		35	56	0	0	0	0.00874	0	35	56				
ZNF639	51193	broad.mit.edu	37	3	179051622	179051622	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr3:179051622G>T	ENST00000326361.3	+	7	1315	c.870G>T	c.(868-870)tgG>tgT	p.W290C	ZNF639_ENST00000484866.1_Missense_Mutation_p.W290C|ZNF639_ENST00000496856.1_Missense_Mutation_p.W290C	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	zinc finger protein 639	290					negative regulation by host of viral transcription (GO:0043922)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|transcription, DNA-templated (GO:0006351)|viral entry into host cell (GO:0046718)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein self-association (GO:0043621)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			ACCTCTATTGGTGTGAACAGT	0.418																																							uc003fjq.1		NA																	0					0						c.(868-870)TGG>TGT		zinc finger protein 639							144.0	134.0	138.0					3																	179051622		2203	4300	6503	SO:0001583	missense	51193				initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr3:179051622G>T	BC020500	CCDS3227.1	3q27.1	2010-03-26			ENSG00000121864	ENSG00000121864		"""Zinc fingers, C2H2-type"""	30950	protein-coding gene	gene with protein product	"""zinc finger amplified in esophageal squamous cell carcinomas 1"""					14522885	Standard	NM_016331		Approved	ANC-2H01, ZASC1	uc003fjr.1	Q9UID6	OTTHUMG00000157439	ENST00000326361.3:c.870G>T	3.37:g.179051622G>T	ENSP00000325634:p.Trp290Cys					ZNF639_uc003fjr.1_Missense_Mutation_p.W290C	p.W290C	NM_016331	NP_057415	Q9UID6	ZN639_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		6	1213	+	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		290			C2H2-type 4.		A9X3Z9|D3DNR3	Missense_Mutation	SNP	ENST00000326361.3	37	c.870G>T	CCDS3227.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.691059	0.48097	.	.	ENSG00000121864	ENST00000496856;ENST00000326361;ENST00000484866	T;T;T	0.14893	2.47;2.47;2.47	5.78	4.91	0.64330	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000001	T	0.21427	0.0516	N	0.04203	-0.255	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.39121	-0.9629	10	0.54805	T	0.06	.	15.0092	0.71536	0.0683:0.0:0.9317:0.0	.	290	Q9UID6	ZN639_HUMAN	C	290	ENSP00000417740:W290C;ENSP00000325634:W290C;ENSP00000418766:W290C	ENSP00000325634:W290C	W	+	3	0	ZNF639	180534316	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.627000	0.74258	1.588000	0.49971	0.655000	0.94253	TGG		0.418	ZNF639-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348855.1	NM_016331		30	53	1	0	2.20474e-14	0.003755	3.3919e-14	30	53				
LMLN	89782	broad.mit.edu	37	3	197751542	197751542	+	Silent	SNP	C	C	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr3:197751542C>T	ENST00000330198.4	+	14	1561	c.1539C>T	c.(1537-1539)aaC>aaT	p.N513N	LMLN_ENST00000482695.1_Silent_p.N498N|LMLN_ENST00000332636.5_Silent_p.N461N|LMLN_ENST00000420910.2_Silent_p.N550N	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	513					cell adhesion (GO:0007155)|mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		TTTTTAAGAACTATGGCGCTG	0.373																																							uc011buo.1		NA																	0				skin(1)	1						c.(1537-1539)AAC>AAT		leishmanolysin-like isoform 2							89.0	87.0	88.0					3																	197751542		2203	4300	6503	SO:0001819	synonymous_variant	89782				cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding	g.chr3:197751542C>T	AJ312398	CCDS3332.1, CCDS46988.1	3q29	2008-02-04			ENSG00000185621	ENSG00000185621	3.4.24.36		15991	protein-coding gene	gene with protein product		609380					Standard	NM_033029		Approved	Gp63, Msp	uc010iar.3	Q96KR4	OTTHUMG00000155375	ENST00000330198.4:c.1539C>T	3.37:g.197751542C>T						LMLN_uc003fyt.2_Silent_p.N498N|LMLN_uc010iar.2_Silent_p.N550N|LMLN_uc010ias.2_Silent_p.N461N|LMLN_uc003fyu.2_Silent_p.N310N	p.N513N	NM_033029	NP_149018	Q96KR4	LMLN_HUMAN	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)	14	1561	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	513					B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Silent	SNP	ENST00000330198.4	37	c.1539C>T	CCDS3332.1																																																																																				0.373	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339701.1	NM_033029		7	13	0	0	0	0.00308	0	7	13				
ZNF721	170960	broad.mit.edu	37	4	436574	436574	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr4:436574T>A	ENST00000338977.5	-	2	1694	c.1646A>T	c.(1645-1647)gAa>gTa	p.E549V	ZNF721_ENST00000511833.2_Missense_Mutation_p.E561V|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA			Q8TF20	ZN721_HUMAN	zinc finger protein 721	549					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						TTTGCCACATTCTTCACATGT	0.413																																							uc003gag.2		NA																	0				ovary(1)	1						c.(1681-1683)GAA>GTA		zinc finger protein 721							100.0	109.0	106.0					4																	436574		2128	4264	6392	SO:0001583	missense	170960					intracellular	nucleic acid binding|zinc ion binding	g.chr4:436574T>A	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		ENST00000338977.5:c.1646A>T	4.37:g.436574T>A	ENSP00000340524:p.Glu549Val					ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Missense_Mutation_p.E593V|ZNF721_uc010ibe.2_Missense_Mutation_p.E549V	p.E561V	NM_133474	NP_597731	D9N162	D9N162_HUMAN			3	2373	-			561					Q69YG7	Missense_Mutation	SNP	ENST00000338977.5	37	c.1682A>T		.	.	.	.	.	.	.	.	.	.	T	15.35	2.807181	0.50421	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	T;T	0.04706	3.57;3.57	1.28	1.28	0.21552	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05502	0.0145	N	0.03115	-0.41	0.09310	N	0.999999	D;B;B	0.54964	0.969;0.005;0.004	D;B;B	0.67382	0.951;0.006;0.003	T	0.44406	-0.9330	9	0.42905	T	0.14	.	6.3325	0.21279	0.0:0.0:0.0:1.0	.	549;561;561	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	V	549;561	ENSP00000340524:E549V;ENSP00000428878:E561V	ENSP00000340524:E549V	E	-	2	0	ZNF721	426574	0.000000	0.05858	0.043000	0.18650	0.774000	0.43823	0.580000	0.23803	0.561000	0.29186	0.155000	0.16302	GAA		0.413	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474		5	82	0	0	0	0.000602	0	5	82				
BST1	683	broad.mit.edu	37	4	15716986	15716986	+	Splice_Site	SNP	T	T	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr4:15716986T>A	ENST00000265016.4	+	5	806		c.e5+2		BST1_ENST00000382346.3_Splice_Site	NM_004334.2	NP_004325.2	Q10588	BST1_HUMAN	bone marrow stromal cell antigen 1						humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|transferase activity (GO:0016740)			central_nervous_system(1)|large_intestine(1)|lung(2)|stomach(3)|urinary_tract(1)	8						CATCAAAGGGTAAGAACACCA	0.393																																							uc003goh.3		NA																	0				central_nervous_system(1)	1						c.e5+2		bone marrow stromal cell antigen 1 precursor							103.0	97.0	99.0					4																	15716986		2203	4300	6503	SO:0001630	splice_region_variant	683				humoral immune response|multicellular organismal development	anchored to membrane|extrinsic to membrane|plasma membrane	binding|NAD+ nucleosidase activity	g.chr4:15716986T>A	D21878	CCDS3416.1	4p15	2010-05-04			ENSG00000109743	ENSG00000109743	3.2.2.5	"""CD molecules"""	1118	protein-coding gene	gene with protein product	"""NAD(+) nucleosidase"", ""ADP-ribosyl cyclase 2"""	600387				8202488	Standard	NM_004334		Approved	CD157	uc003goh.4	Q10588	OTTHUMG00000097739	ENST00000265016.4:c.611+2T>A	4.37:g.15716986T>A						BST1_uc003goi.2_Splice_Site_p.G15_splice	p.G204_splice	NM_004334	NP_004325	Q10588	BST1_HUMAN			5	806	+								B2R6A2|Q1XII0|Q5U0K0|Q96EN3	Splice_Site	SNP	ENST00000265016.4	37	c.611_splice	CCDS3416.1	.	.	.	.	.	.	.	.	.	.	T	17.68	3.449981	0.63290	.	.	ENSG00000109743	ENST00000265016;ENST00000382346;ENST00000505785;ENST00000514445;ENST00000514989	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1979	0.59749	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	BST1	15326084	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	4.222000	0.58580	2.367000	0.80283	0.528000	0.53228	.		0.393	BST1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214968.2	NM_004334	Intron	5	25	0	0	0	0.001984	0	5	25				
ANK2	287	broad.mit.edu	37	4	114275061	114275061	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr4:114275061A>T	ENST00000357077.4	+	38	5340	c.5287A>T	c.(5287-5289)Att>Ttt	p.I1763F	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.I1730F|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1763					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)		AGAAACTCCCATTGGTTCCAT	0.473																																							uc003ibe.3		NA																	0				central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(5287-5289)ATT>TTT		ankyrin 2 isoform 1							231.0	243.0	239.0					4																	114275061		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114275061A>T	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.5287A>T	4.37:g.114275061A>T	ENSP00000349588:p.Ile1763Phe					ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Missense_Mutation_p.I1778F	p.I1763F	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	5387	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1730					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.5287A>T	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	A	16.09	3.025835	0.54683	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.75938	-0.98;-0.96	5.7	5.7	0.88788	.	0.000000	0.64402	D	0.000014	T	0.75729	0.3889	M	0.68952	2.095	0.80722	D	1	B;P	0.40638	0.412;0.725	B;P	0.45449	0.207;0.481	T	0.75642	-0.3247	9	.	.	.	.	11.1091	0.48221	0.8622:0.0:0.0:0.1378	.	1730;1763	Q01484;Q01484-4	ANK2_HUMAN;.	F	1763;1730	ENSP00000349588:I1763F;ENSP00000264366:I1730F	.	I	+	1	0	ANK2	114494510	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.125000	0.71627	2.168000	0.68352	0.533000	0.62120	ATT		0.473	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		55	121	0	0	0	0.01441	0	55	121				
PCDH18	54510	broad.mit.edu	37	4	138451547	138451547	+	Missense_Mutation	SNP	T	T	C	rs149770317		TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr4:138451547T>C	ENST00000344876.4	-	1	2082	c.1696A>G	c.(1696-1698)Atc>Gtc	p.I566V	PCDH18_ENST00000412923.2_Missense_Mutation_p.I566V|PCDH18_ENST00000507846.1_Missense_Mutation_p.I346V|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	566	Cadherin 5. {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)					TCGTCAATGATGGTGAGCACA	0.453																																							uc003ihe.3		NA																	0				pancreas(3)|skin(2)	5						c.(1696-1698)ATC>GTC		protocadherin 18 precursor		T	VAL/ILE	0,4406		0,0,2203	182.0	173.0	176.0		1696	3.5	1.0	4	dbSNP_134	176	1,8599	1.2+/-3.3	0,1,4299	no	missense	PCDH18	NM_019035.3	29	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign	566/1136	138451547	1,13005	2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138451547T>C	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.1696A>G	4.37:g.138451547T>C	ENSP00000355082:p.Ile566Val					PCDH18_uc003ihf.3_Missense_Mutation_p.I559V|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.I346V|PCDH18_uc011cha.1_Intron	p.I566V	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN			1	2083	-	all_hematologic(180;0.24)		566			Extracellular (Potential).|Cadherin 5.		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.1696A>G	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	T	1.370	-0.586340	0.03827	0.0	1.16E-4	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.35048	1.33;1.33;1.33	5.93	3.54	0.40534	Cadherin (5);Cadherin conserved site (1);Cadherin-like (1);	0.154615	0.29522	N	0.011905	T	0.16041	0.0386	N	0.11927	0.2	0.80722	D	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.13407	0.001;0.007;0.009	T	0.11131	-1.0600	10	0.02654	T	1	.	8.3312	0.32187	0.0:0.2099:0.0:0.7901	.	346;566;566	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	V	566;566;346	ENSP00000355082:I566V;ENSP00000390688:I566V;ENSP00000425903:I346V	ENSP00000355082:I566V	I	-	1	0	PCDH18	138670997	0.974000	0.33945	1.000000	0.80357	0.886000	0.51366	0.485000	0.22324	1.056000	0.40484	0.460000	0.39030	ATC		0.453	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		33	81	0	0	0	0.00623	0	33	81				
ASB5	140458	broad.mit.edu	37	4	177142395	177142395	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr4:177142395A>T	ENST00000296525.3	-	5	694	c.581T>A	c.(580-582)gTt>gAt	p.V194D	ASB5_ENST00000512254.1_Missense_Mutation_p.V141D|ASB5_ENST00000511879.1_5'Flank	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	194					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		TTCTTGGTCAACATCTATGCC	0.438																																							uc003iuq.1		NA																	0				skin(2)	2						c.(580-582)GTT>GAT		ankyrin repeat and SOCS box-containing protein							120.0	110.0	113.0					4																	177142395		2203	4300	6503	SO:0001583	missense	140458				intracellular signal transduction			g.chr4:177142395A>T	AY057053	CCDS3827.1	4q34.1	2013-01-10	2011-01-25		ENSG00000164122	ENSG00000164122		"""Ankyrin repeat domain containing"""	17180	protein-coding gene	gene with protein product		615050	"""ankyrin repeat and SOCS box-containing 5"""				Standard	NM_080874		Approved		uc003iuq.2	Q8WWX0	OTTHUMG00000160793	ENST00000296525.3:c.581T>A	4.37:g.177142395A>T	ENSP00000296525:p.Val194Asp					ASB5_uc003iup.1_Missense_Mutation_p.V141D	p.V194D	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)	5	597	-		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	194			ANK 4.		Q8N7B5	Missense_Mutation	SNP	ENST00000296525.3	37	c.581T>A	CCDS3827.1	.	.	.	.	.	.	.	.	.	.	A	14.41	2.526454	0.44969	.	.	ENSG00000164122	ENST00000296525;ENST00000512254	T;T	0.69306	-0.39;0.39	5.91	5.91	0.95273	Ankyrin repeat-containing domain (4);	0.055643	0.64402	D	0.000001	T	0.81870	0.4914	M	0.92412	3.305	0.80722	D	1	P;P	0.52316	0.896;0.952	B;P	0.51701	0.399;0.677	D	0.86653	0.1899	10	0.87932	D	0	-21.5481	16.3453	0.83126	1.0:0.0:0.0:0.0	.	194;141	Q8WWX0;Q8N7B5	ASB5_HUMAN;.	D	194;141	ENSP00000296525:V194D;ENSP00000422877:V141D	ENSP00000296525:V194D	V	-	2	0	ASB5	177379389	1.000000	0.71417	0.990000	0.47175	0.002000	0.02628	8.384000	0.90160	2.261000	0.74972	0.533000	0.62120	GTT		0.438	ASB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362344.1			14	39	0	0	0	0.00499	0	14	39				
ZNF622	90441	broad.mit.edu	37	5	16463792	16463793	+	Missense_Mutation	DNP	CG	CG	AA			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	CG	CG	-	-	CG	CG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr5:16463792_16463793CG>AA	ENST00000308683.2	-	2	810_811	c.684_685CG>TT	c.(682-687)gaCGat>gaTTat	p.D229Y		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	229	Glu-rich.				intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of kinase activity (GO:0033674)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						TCCACCACATCGTCCATTGCTT	0.446																																							uc003jfq.2		NA																	0				ovary(1)	1						c.(682-687)GACGAT>GATTAT		zinc finger protein 622																																				SO:0001583	missense	90441					cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr5:16463792_16463793CG>AA	AY046059	CCDS3886.1	5p15.1	2012-10-05			ENSG00000173545	ENSG00000173545			30958	protein-coding gene	gene with protein product		608694				11802789, 12645566	Standard	NM_033414		Approved	MGC2485, MGC17552, ZPR9	uc003jfq.3	Q969S3	OTTHUMG00000090567	ENST00000308683.2:c.684_685delinsAA	5.37:g.16463792_16463793delinsAA	ENSP00000310042:p.Asp229Tyr						p.D229Y	NM_033414	NP_219482	Q969S3	ZN622_HUMAN			2	804_805	-			229			Glu-rich.			Missense_Mutation	DNP	ENST00000308683.2	37	c.684_685CG>TT	CCDS3886.1																																																																																				0.446	ZNF622-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207105.1	NM_033414		40	213	0	0	0	0.004672	0	40	213				
FAM134B	54463	broad.mit.edu	37	5	16616835	16616835	+	Silent	SNP	G	G	C			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr5:16616835G>C	ENST00000306320.9	-	1	332	c.246C>G	c.(244-246)cgC>cgG	p.R82R	CTC-461F20.1_ENST00000504935.1_lincRNA|RP11-260E18.1_ENST00000499131.1_RNA|FAM134B_ENST00000509048.1_5'UTR	NM_001034850.2	NP_001030022.1	Q9H6L5	F134B_HUMAN	family with sequence similarity 134, member B	82					sensory perception of pain (GO:0019233)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1)	16						GCTCGTCGGCGCGGCAGCCCA	0.746																																							uc003jfs.2		NA																	0				ovary(2)|breast(1)	3						c.(244-246)CGC>CGG		hypothetical protein LOC54463 isoform 1							4.0	5.0	5.0					5																	16616835		1579	3565	5144	SO:0001819	synonymous_variant	54463				sensory perception of pain	cis-Golgi network|endoplasmic reticulum|integral to membrane		g.chr5:16616835G>C	BC053326	CCDS43304.1, CCDS43305.1	5p15.1	2014-09-17			ENSG00000154153	ENSG00000154153			25964	protein-coding gene	gene with protein product		613114				19838196, 24327336	Standard	NM_001034850		Approved	FLJ20152	uc003jfs.3	Q9H6L5	OTTHUMG00000161788	ENST00000306320.9:c.246C>G	5.37:g.16616835G>C							p.R82R	NM_001034850	NP_001030022	Q9H6L5	F134B_HUMAN			1	284	-			82					Q69YN8|Q9H6K6|Q9H764|Q9NXM8	Silent	SNP	ENST00000306320.9	37	c.246C>G	CCDS43304.1																																																																																				0.746	FAM134B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000366090.1	NM_001034850		3	1	0	0	0	0.000602	0	3	1				
PRDM9	56979	broad.mit.edu	37	5	23527693	23527693	+	Silent	SNP	T	T	C			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr5:23527693T>C	ENST00000296682.3	+	11	2678	c.2496T>C	c.(2494-2496)taT>taC	p.Y832Y		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	832					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)	p.Y832Y(1)		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						AGAAGCCCTATGTCTGCAGGG	0.587										HNSCC(3;0.000094)																													uc003jgo.2		NA																	1	Substitution - coding silent(1)		endometrium(1)	ovary(3)|large_intestine(2)|pancreas(1)	6						c.(2494-2496)TAT>TAC		PR domain containing 9							48.0	60.0	56.0					5																	23527693		2166	4285	6451	SO:0001819	synonymous_variant	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23527693T>C	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.2496T>C	5.37:g.23527693T>C		HNSCC(3;0.000094)					p.Y832Y	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			11	2678	+			832			C2H2-type 13.		B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	c.2496T>C	CCDS43307.1																																																																																				0.587	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		7	141	0	0	0	0.001984	0	7	141				
SPEF2	79925	broad.mit.edu	37	5	35700661	35700661	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr5:35700661G>T	ENST00000356031.3	+	16	2359	c.2205G>T	c.(2203-2205)caG>caT	p.Q735H	SPEF2_ENST00000440995.2_Missense_Mutation_p.Q730H|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000509059.1_Missense_Mutation_p.Q730H	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	735					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACCAAGCACAGCTTCTGGAAG	0.383																																							uc003jjo.2		NA																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(2203-2205)CAG>CAT		KPL2 protein isoform 1							91.0	82.0	84.0					5																	35700661		1817	4081	5898	SO:0001583	missense	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35700661G>T	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.2205G>T	5.37:g.35700661G>T	ENSP00000348314:p.Gln735His					SPEF2_uc003jjq.3_Missense_Mutation_p.Q730H|SPEF2_uc003jjp.1_Missense_Mutation_p.Q221H	p.Q735H	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		16	2316	+	all_lung(31;7.56e-05)		735			Potential.		Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	c.2205G>T	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	G	8.813	0.935641	0.18206	.	.	ENSG00000152582	ENST00000356031;ENST00000509059;ENST00000440995;ENST00000504054	T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06	5.79	0.137	0.14787	.	0.413235	0.26792	N	0.022462	T	0.69735	0.3144	L	0.31157	0.91	0.80722	D	1	P;B;P	0.37612	0.602;0.415;0.602	P;B;B	0.45377	0.478;0.247;0.252	T	0.66126	-0.6001	10	0.59425	D	0.04	.	9.5292	0.39182	0.5024:0.0:0.4976:0.0	.	730;730;735	D6REZ4;Q9C093-2;Q9C093	.;.;SPEF2_HUMAN	H	735;730;730;241	ENSP00000348314:Q735H;ENSP00000421593:Q730H;ENSP00000412125:Q730H;ENSP00000421744:Q241H	ENSP00000348314:Q735H	Q	+	3	2	SPEF2	35736418	1.000000	0.71417	0.610000	0.28997	0.230000	0.25150	0.864000	0.27926	0.076000	0.16826	-0.150000	0.13652	CAG		0.383	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		20	14	1	0	8.10497e-08	0.010504	1.02739e-07	20	14				
VCAN	1462	broad.mit.edu	37	5	82816757	82816757	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr5:82816757A>G	ENST00000265077.3	+	7	3197	c.2632A>G	c.(2632-2634)Aaa>Gaa	p.K878E	VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.K830E|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.K878E	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	878	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AGCCCATGGAAAATTCACAAT	0.373																																							uc003kii.3		NA																	0				ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(2632-2634)AAA>GAA		versican isoform 1 precursor							111.0	115.0	114.0					5																	82816757		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82816757A>G	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.2632A>G	5.37:g.82816757A>G	ENSP00000265077:p.Lys878Glu					VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.K878E|VCAN_uc003kik.3_Intron	p.K878E	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	7	2988	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	878			GAG-alpha (glucosaminoglycan attachment domain).		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.2632A>G	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	A	0.088	-1.172057	0.01646	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	T;T;T	0.22336	1.96;1.96;1.96	5.8	1.77	0.24775	.	0.288754	0.30028	N	0.010599	T	0.10508	0.0257	L	0.28115	0.83	0.18873	N	0.999989	B;B	0.28419	0.211;0.103	B;B	0.26094	0.066;0.031	T	0.34950	-0.9808	10	0.05620	T	0.96	.	8.36	0.32353	0.7227:0.0:0.2773:0.0	.	878;878	P13611-3;P13611	.;CSPG2_HUMAN	E	878;878;830	ENSP00000265077:K878E;ENSP00000342768:K878E;ENSP00000425959:K830E	ENSP00000265077:K878E	K	+	1	0	VCAN	82852513	0.006000	0.16342	0.505000	0.27651	0.247000	0.25773	0.268000	0.18571	0.472000	0.27344	0.533000	0.62120	AAA		0.373	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		19	63	0	0	0	0.00278	0	19	63				
CAMK4	814	broad.mit.edu	37	5	110782425	110782425	+	Silent	SNP	A	A	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr5:110782425A>T	ENST00000282356.4	+	6	899	c.501A>T	c.(499-501)ccA>ccT	p.P167P	CAMK4_ENST00000512453.1_Silent_p.P167P	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	167	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		ATCTCAAACCAGAGAATCTTC	0.368																																							uc011cvj.1		NA																	0				ovary(3)|lung(2)	5						c.(499-501)CCA>CCT		calcium/calmodulin-dependent protein kinase IV							129.0	121.0	124.0					5																	110782425		2202	4300	6502	SO:0001819	synonymous_variant	814				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr5:110782425A>T	D30742	CCDS4103.1	5q22.1	2012-09-20			ENSG00000152495	ENSG00000152495	2.7.11.17		1464	protein-coding gene	gene with protein product	"""brain Ca++-calmodulin-dependent protein kinase type IV"", ""calcium/calmodulin-dependent protein kinase type IV catalytic chain"", ""CAM kinase IV"", ""CAM kinase- GR"""	114080				2536634	Standard	NM_001744		Approved	CaMK-GR	uc003kpf.3	Q16566	OTTHUMG00000128792	ENST00000282356.4:c.501A>T	5.37:g.110782425A>T						CAMK4_uc003kpf.2_Silent_p.P167P|CAMK4_uc010jbv.2_5'UTR	p.P167P	NM_001744	NP_001735	Q16566	KCC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)	7	600	+		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)	167			Protein kinase.		D3DSZ7	Silent	SNP	ENST00000282356.4	37	c.501A>T	CCDS4103.1																																																																																				0.368	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250719.2	NM_001744		16	35	0	0	0	0.014323	0	16	35				
PCDHB15	56121	broad.mit.edu	37	5	140626445	140626445	+	Silent	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr5:140626445C>A	ENST00000231173.3	+	1	1299	c.1299C>A	c.(1297-1299)acC>acA	p.T433T		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	433	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(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCTGAAAACCGAGCAGAGCA	0.577																																							uc003lje.2		NA																	0				ovary(2)|breast(2)|skin(1)	5						c.(1297-1299)ACC>ACA		protocadherin beta 15 precursor							115.0	108.0	110.0					5																	140626445		2203	4300	6503	SO:0001819	synonymous_variant	56121				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140626445C>A	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.1299C>A	5.37:g.140626445C>A							p.T433T	NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1299	+			433			Extracellular (Potential).|Cadherin 4.		Q8IUX5	Silent	SNP	ENST00000231173.3	37	c.1299C>A	CCDS4257.1																																																																																				0.577	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		24	57	1	0	4.26978e-12	0.00333	6.09968e-12	24	57				
PCDHGA12	26025	broad.mit.edu	37	5	140810956	140810956	+	Silent	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr5:140810956G>T	ENST00000252085.3	+	1	772	c.630G>T	c.(628-630)ctG>ctT	p.L210L	PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	210	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)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCACCACCTGGTCCTTACGG	0.622																																							uc003lkt.1		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(628-630)CTG>CTT		protocadherin gamma subfamily A, 12 isoform 1							67.0	69.0	69.0					5																	140810956		2203	4300	6503	SO:0001819	synonymous_variant	26025				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140810956G>T	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.630G>T	5.37:g.140810956G>T						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_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Silent_p.L210L	p.L210L	NM_003735	NP_003726	O60330	PCDGC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	799	+			210			Extracellular (Potential).|Cadherin 2.		O15100|Q6UW70|Q9Y5D7	Silent	SNP	ENST00000252085.3	37	c.630G>T	CCDS4260.1																																																																																				0.622	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		23	37	1	0	0.00465635	0.004656	0.0048893	23	37				
ARSI	340075	broad.mit.edu	37	5	149677134	149677134	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr5:149677134G>T	ENST00000328668.7	-	2	1932	c.1353C>A	c.(1351-1353)aaC>aaA	p.N451K		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	451					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCGTTCCAGGTTCCACCAGC	0.632																																							uc003lrv.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1351-1353)AAC>AAA		arylsulfatase family, member I precursor							36.0	40.0	39.0					5																	149677134		2203	4300	6503	SO:0001583	missense	340075					endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding	g.chr5:149677134G>T	AY875937	CCDS34275.1	5q32	2014-03-03	2006-03-07			ENSG00000183876		"""Arylsulfatase family"""	32521	protein-coding gene	gene with protein product		610009	"""arylsulfatase I"""			16174644, 24482476	Standard	NM_001012301		Approved	FLJ16069, SPG66	uc003lrv.2	Q5FYB1		ENST00000328668.7:c.1353C>A	5.37:g.149677134G>T	ENSP00000333395:p.Asn451Lys						p.N451K	NM_001012301	NP_001012301	Q5FYB1	ARSI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	1942	-			451					A1L3B0|B3KV22|B7XD03	Missense_Mutation	SNP	ENST00000328668.7	37	c.1353C>A	CCDS34275.1	.	.	.	.	.	.	.	.	.	.	G	9.036	0.988578	0.18966	.	.	ENSG00000183876	ENST00000328668;ENST00000515301	D;D	0.91945	-2.94;-2.94	4.44	2.64	0.31445	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.096876	0.64402	D	0.000002	D	0.83408	0.5248	L	0.31294	0.92	0.40810	D	0.983411	B	0.12013	0.005	B	0.24006	0.05	T	0.70270	-0.4918	10	0.07175	T	0.84	.	7.8545	0.29474	0.2542:0.0:0.7458:0.0	.	451	Q5FYB1	ARSI_HUMAN	K	451;308	ENSP00000333395:N451K;ENSP00000426879:N308K	ENSP00000333395:N451K	N	-	3	2	ARSI	149657327	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.741000	0.38238	0.496000	0.27904	0.555000	0.69702	AAC		0.632	ARSI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373681.1	NM_001012301		12	23	1	0	6.31663e-08	0.003163	8.06378e-08	12	23				
NPM1	4869	broad.mit.edu	37	5	170818327	170818327	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr5:170818327G>T	ENST00000296930.5	+	3	458	c.157G>T	c.(157-159)Gca>Tca	p.A53S	NPM1_ENST00000393820.2_Missense_Mutation_p.A53S|NPM1_ENST00000351986.6_Missense_Mutation_p.A53S|NPM1_ENST00000517671.1_Missense_Mutation_p.A53S	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	53	Necessary for interaction with APEX1.|Required for interaction with SENP3.				cell aging (GO:0007569)|CENP-A containing nucleosome assembly (GO:0034080)|centrosome cycle (GO:0007098)|DNA repair (GO:0006281)|intracellular protein transport (GO:0006886)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of centrosome duplication (GO:0010826)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of translation (GO:0045727)|protein localization (GO:0008104)|protein oligomerization (GO:0051259)|regulation of centriole replication (GO:0046599)|regulation of eIF2 alpha phosphorylation by dsRNA (GO:0060735)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of endoribonuclease activity (GO:0060699)|response to stress (GO:0006950)|ribosome assembly (GO:0042255)|signal transduction (GO:0007165)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle pole centrosome (GO:0031616)	histone binding (GO:0042393)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|unfolded protein binding (GO:0051082)		NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGGGGCTGGTGCAAAGGATGA	0.403			"""T, F """	"""ALK, RARA, MLF1"""	"""NHL, APL, AML"""																																		uc011dex.1		NA		Dom	yes		5	5q35	4869	T|F 	"""nucleophosmin (nucleolar phosphoprotein B23, numatrin)"""			L	ALK|RARA|MLF1		NHL|APL|AML	NPM1/ALK(632)	0				haematopoietic_and_lymphoid_tissue(3109)|skin(1)	3110						c.(157-159)GCA>TCA		nucleophosmin 1 isoform 1							124.0	128.0	127.0					5																	170818327		2203	4300	6503	SO:0001583	missense	4869				anti-apoptosis|cell aging|CenH3-containing nucleosome assembly at centromere|centrosome cycle|DNA repair|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction	nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome	histone binding|NF-kappaB binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|RNA binding|Tat protein binding|transcription coactivator activity|unfolded protein binding	g.chr5:170818327G>T	M26697	CCDS4376.1, CCDS4377.1, CCDS43399.1	5q35.1	2014-09-17			ENSG00000181163	ENSG00000181163			7910	protein-coding gene	gene with protein product	"""nucleolar phosphoprotein B23"", ""numatrin"", ""nucleophosmin/nucleoplasmin family, member 1"""	164040				8471164, 8122112	Standard	NM_002520		Approved	B23, NPM	uc003mbi.3	P06748	OTTHUMG00000130465	ENST00000296930.5:c.157G>T	5.37:g.170818327G>T	ENSP00000296930:p.Ala53Ser					NPM1_uc003mbh.2_Missense_Mutation_p.A53S|NPM1_uc003mbi.2_Missense_Mutation_p.A53S|NPM1_uc003mbj.2_Missense_Mutation_p.A53S	p.A53S	NM_002520	NP_002511	P06748	NPM_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		4	292	+	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	53			Necessary for interaction with APEX1.|Required for interaction with SENP3.		A8K3N7|B5BU00|D3DQL6|P08693|Q12826|Q13440|Q13441|Q14115|Q5EU94|Q5EU95|Q5EU96|Q5EU97|Q5EU98|Q5EU99|Q6V962|Q8WTW5|Q96AT6|Q96DC4|Q96EA5|Q9BYG9|Q9UDJ7	Missense_Mutation	SNP	ENST00000296930.5	37	c.157G>T	CCDS4376.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.491533	0.84962	.	.	ENSG00000181163	ENST00000517671;ENST00000296930;ENST00000351986;ENST00000393820;ENST00000523622	T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02	4.64	4.64	0.57946	Nucleoplasmin core (2);	0.131073	0.51477	U	0.000094	D	0.84270	0.5435	H	0.95004	3.61	0.37562	D	0.919109	P;P;D	0.53619	0.914;0.833;0.961	P;P;D	0.65443	0.893;0.894;0.935	D	0.90679	0.4604	10	0.72032	D	0.01	.	17.4858	0.87688	0.0:0.0:1.0:0.0	.	53;53;53	P06748-2;P06748;Q9BYG9	.;NPM_HUMAN;.	S	53;53;53;53;45	ENSP00000428755:A53S;ENSP00000296930:A53S;ENSP00000341168:A53S;ENSP00000377408:A53S;ENSP00000428647:A45S	ENSP00000296930:A53S	A	+	1	0	NPM1	170750932	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.843000	0.75384	2.282000	0.76494	0.585000	0.79938	GCA		0.403	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252858.2	NM_002520		29	38	1	0	6.00712e-18	0.012213	9.48493e-18	29	38				
HRH2	3274	broad.mit.edu	37	5	175110541	175110541	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr5:175110541G>T	ENST00000231683.2	+	1	2078	c.305G>T	c.(304-306)tGc>tTc	p.C102F	HRH2_ENST00000377291.2_Missense_Mutation_p.C102F	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	102					digestive tract development (GO:0048565)|epithelial cell morphogenesis (GO:0003382)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|gastrin-induced gastric acid secretion (GO:0001698)|gland development (GO:0048732)|histamine-induced gastric acid secretion (GO:0001697)|immune response (GO:0006955)|memory (GO:0007613)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Amitriptyline(DB00321)|Asenapine(DB06216)|Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Methantheline(DB00940)|Nizatidine(DB00585)|Olanzapine(DB00334)|Ranitidine(DB00863)|Roxatidine acetate(DB08806)|Tolazoline(DB00797)	GTGATGCTCTGCACAGCCTCC	0.567																																							uc003mdd.2		NA																	0				ovary(1)	1						c.(304-306)TGC>TTC		histamine receptor H2 isoform 2	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)						115.0	96.0	102.0					5																	175110541		2203	4300	6503	SO:0001583	missense	3274				G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity	g.chr5:175110541G>T		CCDS4395.1, CCDS47344.1	5q35	2012-08-08			ENSG00000113749	ENSG00000113749		"""GPCR / Class A : Histamine receptors"""	5183	protein-coding gene	gene with protein product		142703				1714721	Standard	NM_022304		Approved		uc003mdc.4	P25021	OTTHUMG00000130660	ENST00000231683.2:c.305G>T	5.37:g.175110541G>T	ENSP00000231683:p.Cys102Phe					HRH2_uc003mdc.3_Missense_Mutation_p.C102F	p.C102F	NM_022304	NP_071640	P25021	HRH2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	1	2078	+	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	102			Helical; Name=3; (Potential).		B5BUP7|Q14464|Q7Z5R9	Missense_Mutation	SNP	ENST00000231683.2	37	c.305G>T	CCDS4395.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.013643	0.54468	.	.	ENSG00000113749	ENST00000377291;ENST00000231683	T;T	0.72615	-0.67;-0.67	5.46	5.46	0.80206	GPCR, rhodopsin-like superfamily (1);	0.051827	0.85682	D	0.000000	D	0.86674	0.5989	M	0.86864	2.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.88709	0.3221	10	0.87932	D	0	.	18.2999	0.90160	0.0:0.0:1.0:0.0	.	102;102	P25021;Q7Z5R9	HRH2_HUMAN;.	F	102	ENSP00000366506:C102F;ENSP00000231683:C102F	ENSP00000231683:C102F	C	+	2	0	HRH2	175043147	1.000000	0.71417	1.000000	0.80357	0.115000	0.19883	8.008000	0.88588	2.579000	0.87056	0.462000	0.41574	TGC		0.567	HRH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253151.1			12	34	1	0	5.50884e-06	0.013537	6.39736e-06	12	34				
GRM6	2916	broad.mit.edu	37	5	178418469	178418469	+	Silent	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr5:178418469G>T	ENST00000517717.1	-	4	851	c.813C>A	c.(811-813)ccC>ccA	p.P271P	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Silent_p.P271P			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	271					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CCCGGGCGTTGGGCGTCTCCA	0.597																																							uc003mjr.2		NA																	0				lung(4)|ovary(2)|breast(1)|pancreas(1)	8						c.(811-813)CCC>CCA		glutamate receptor, metabotropic 6 precursor							193.0	189.0	190.0					5																	178418469		2203	4300	6503	SO:0001819	synonymous_variant	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178418469G>T	U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.813C>A	5.37:g.178418469G>T						GRM6_uc010jla.1_5'Flank|GRM6_uc003mjs.1_5'Flank	p.P271P	NM_000843	NP_000834	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	3	992	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	271			Extracellular (Potential).			Silent	SNP	ENST00000517717.1	37	c.813C>A	CCDS4442.1																																																																																				0.597	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			32	79	1	0	6.05902e-23	0.003755	1.02889e-22	32	79				
ITPR3	3710	broad.mit.edu	37	6	33658712	33658712	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr6:33658712C>T	ENST00000374316.5	+	53	8111	c.7051C>T	c.(7051-7053)Cgc>Tgc	p.R2351C	ITPR3_ENST00000605930.1_Missense_Mutation_p.R2351C			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2351					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|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)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	CCTCATCTACCGCGAGGAGAC	0.607																																							uc011drk.1		NA																	0				ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						c.(7051-7053)CGC>TGC		inositol 1,4,5-triphosphate receptor, type 3							107.0	89.0	95.0					6																	33658712		2203	4300	6503	SO:0001583	missense	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33658712C>T	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.7051C>T	6.37:g.33658712C>T	ENSP00000363435:p.Arg2351Cys					ITPR3_uc003oey.2_Missense_Mutation_p.R438C	p.R2351C	NM_002224	NP_002215	Q14573	ITPR3_HUMAN			52	7270	+			2351			Cytoplasmic (Potential).		Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.7051C>T	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692695	0.88735	.	.	ENSG00000096433	ENST00000374316	D	0.98807	-5.15	5.17	5.17	0.71159	Ion transport (1);	0.104203	0.64402	D	0.000003	D	0.99221	0.9729	M	0.90082	3.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99308	1.0903	10	0.87932	D	0	-14.9982	14.7357	0.69414	0.1453:0.8547:0.0:0.0	.	2351;2021	Q14573;Q59ES2	ITPR3_HUMAN;.	C	2351	ENSP00000363435:R2351C	ENSP00000363435:R2351C	R	+	1	0	ITPR3	33766690	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	4.804000	0.62554	2.562000	0.86427	0.561000	0.74099	CGC		0.607	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		10	46	0	0	0	0.00245	0	10	46				
SNAP91	9892	broad.mit.edu	37	6	84301006	84301006	+	Missense_Mutation	SNP	A	A	T	rs540264016		TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr6:84301006A>T	ENST00000439399.2	-	22	2254	c.1938T>A	c.(1936-1938)ttT>ttA	p.F646L	SNAP91_ENST00000521485.1_Missense_Mutation_p.F646L|SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000369694.2_Missense_Mutation_p.F646L|SNAP91_ENST00000428679.2_Missense_Mutation_p.F646L|SNAP91_ENST00000521743.1_Missense_Mutation_p.F646L|SNAP91_ENST00000195649.6_Missense_Mutation_p.F646L|SNAP91_ENST00000520302.1_Missense_Mutation_p.F616L	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	646					clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		CACTACTTCCAAATGCATCTA	0.378																																							uc011dze.1		NA																	0				ovary(1)	1						c.(1936-1938)TTT>TTA		synaptosomal-associated protein, 91kDa homolog							109.0	106.0	107.0					6																	84301006		1890	4106	5996	SO:0001583	missense	9892				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding	g.chr6:84301006A>T	AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"""synaptosomal-associated protein, 91 kDa (mouse) homolog"", ""synaptosomal-associated protein, 91kDa homolog (mouse)"""			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.1938T>A	6.37:g.84301006A>T	ENSP00000400459:p.Phe646Leu					SNAP91_uc011dzd.1_Missense_Mutation_p.F149L|SNAP91_uc003pkb.2_Missense_Mutation_p.F555L|SNAP91_uc003pkc.2_Missense_Mutation_p.F616L|SNAP91_uc003pkd.2_Intron|SNAP91_uc003pka.2_Missense_Mutation_p.F644L	p.F646L	NM_014841	NP_055656	O60641	AP180_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0967)	21	2255	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)	646					A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	ENST00000439399.2	37	c.1938T>A	CCDS47455.1	.	.	.	.	.	.	.	.	.	.	A	15.30	2.791278	0.50102	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000520302;ENST00000521743;ENST00000521931	T;T;T;T;T;T;T;T	0.34072	2.39;2.4;2.4;2.39;2.39;2.27;2.4;1.38	5.99	4.83	0.62350	.	0.245386	0.41097	D	0.000960	T	0.39682	0.1087	M	0.68952	2.095	0.80722	D	1	P;D;B;D	0.54964	0.956;0.969;0.024;0.969	D;D;B;D	0.65010	0.931;0.914;0.018;0.914	T	0.30794	-0.9966	10	0.31617	T	0.26	-17.2493	9.2049	0.37282	0.8619:0.0:0.1381:0.0	.	527;616;646;644	B7Z2N2;E5RI02;O60641;E1P549	.;.;AP180_HUMAN;.	L	646;646;646;646;646;616;646;459	ENSP00000429776:F646L;ENSP00000358708:F646L;ENSP00000400459:F646L;ENSP00000195649:F646L;ENSP00000412492:F646L;ENSP00000428511:F616L;ENSP00000428215:F646L;ENSP00000430071:F459L	ENSP00000195649:F646L	F	-	3	2	SNAP91	84357725	1.000000	0.71417	1.000000	0.80357	0.514000	0.34195	2.886000	0.48578	1.092000	0.41356	0.533000	0.62120	TTT		0.378	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1			21	21	0	0	0	0.00333	0	21	21				
VNN2	8875	broad.mit.edu	37	6	133078832	133078832	+	Missense_Mutation	SNP	G	G	T	rs201471643		TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr6:133078832G>T	ENST00000326499.6	-	1	315	c.191C>A	c.(190-192)gCg>gAg	p.A64E	VNN2_ENST00000525289.1_Missense_Mutation_p.A64E|VNN2_ENST00000525270.1_Missense_Mutation_p.A11E|VNN2_ENST00000526192.1_5'UTR	NM_004665.2	NP_004656	O95498	VNN2_HUMAN	vanin 2	64	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				cellular component movement (GO:0006928)|pantothenate metabolic process (GO:0015939)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		CTGCTTGATCGCTGTCTCCAG	0.433																																							uc003qdt.2		NA																	0					0						c.(190-192)GCG>GAG		vanin 2 isoform 1 precursor							123.0	119.0	120.0					6																	133078832		2203	4300	6503	SO:0001583	missense	8875				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity	g.chr6:133078832G>T	AB026705	CCDS5161.1, CCDS5162.1, CCDS56451.1	6q23-q24	2013-02-13			ENSG00000112303	ENSG00000112303	3.5.1.92	"""Vanins"""	12706	protein-coding gene	gene with protein product	"""pantetheinase"""	603571				9790769, 11491533	Standard	NM_078488		Approved	FOAP-4, GPI-80	uc003qdt.3	O95498	OTTHUMG00000015588	ENST00000326499.6:c.191C>A	6.37:g.133078832G>T	ENSP00000322276:p.Ala64Glu					VNN2_uc003qds.2_5'UTR|VNN2_uc010kgb.2_Missense_Mutation_p.A64E|VNN2_uc003qdv.2_Missense_Mutation_p.A11E	p.A64E	NM_004665	NP_004656	O95498	VNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)	1	202	-			64			CN hydrolase.		A0AUZ3|A6NDY1|A8K4E3|A8K7W0|B2DFZ0|B2DFZ1|B2DFZ2|B2DFZ3|F6XL73|Q2XUN1|Q9UJF3|Q9UMW2	Missense_Mutation	SNP	ENST00000326499.6	37	c.191C>A	CCDS5161.1	.	.	.	.	.	.	.	.	.	.	g	14.88	2.666110	0.47677	.	.	ENSG00000112303	ENST00000326499;ENST00000525270;ENST00000525289;ENST00000524919;ENST00000530536;ENST00000532012	D;D;D;D;D;D	0.90504	-2.68;-2.68;-2.68;-2.68;-2.68;-2.68	5.59	-0.685	0.11328	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.344571	0.27340	N	0.019815	D	0.90553	0.7039	M	0.86343	2.81	0.09310	N	1	B;D	0.76494	0.141;0.999	B;D	0.75020	0.067;0.985	D	0.83552	0.0102	10	0.30854	T	0.27	-0.0851	6.0925	0.20003	0.3304:0.0:0.5562:0.1134	.	64;64	O95498-2;O95498	.;VNN2_HUMAN	E	64;11;64;64;11;64	ENSP00000322276:A64E;ENSP00000436822:A11E;ENSP00000436935:A64E;ENSP00000431451:A64E;ENSP00000434210:A11E;ENSP00000431680:A64E	ENSP00000322276:A64E	A	-	2	0	VNN2	133120525	0.057000	0.20700	0.000000	0.03702	0.002000	0.02628	1.510000	0.35790	-0.367000	0.08052	-0.476000	0.04901	GCG		0.433	VNN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042264.2			13	24	1	0	0.000308642	0.003163	0.0003367	13	24				
BCLAF1	9774	broad.mit.edu	37	6	136582546	136582546	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr6:136582546C>A	ENST00000531224.1	-	12	2866	c.2614G>T	c.(2614-2616)Ggc>Tgc	p.G872C	BCLAF1_ENST00000031135.9_Missense_Mutation_p.G90C|BCLAF1_ENST00000527536.1_Missense_Mutation_p.G823C|BCLAF1_ENST00000353331.4_Missense_Mutation_p.G821C|BCLAF1_ENST00000527759.1_Missense_Mutation_p.G870C|BCLAF1_ENST00000392348.2_Missense_Mutation_p.G821C|BCLAF1_ENST00000530767.1_Missense_Mutation_p.G699C|BCLAF1_ENST00000529917.1_5'UTR	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	872					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CGCCCTCTGCCACGTTGAAAA	0.423																																					Colon(142;1534 1789 5427 7063 28491)	Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1		NA																	0				ovary(1)	1						c.(2614-2616)GGC>TGC		BCL2-associated transcription factor 1 isoform							221.0	221.0	221.0					6																	136582546		2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136582546C>A	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.2614G>T	6.37:g.136582546C>A	ENSP00000435210:p.Gly872Cys					BCLAF1_uc011edb.1_Missense_Mutation_p.G151C|BCLAF1_uc003qgw.1_Missense_Mutation_p.G699C|BCLAF1_uc003qgy.1_Missense_Mutation_p.G821C|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.G870C	p.G872C	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	12	2867	-	Colorectal(23;0.24)		872					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.2614G>T	CCDS5177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.75|17.75	3.465165|3.465165	0.63513|0.63513	.|.	.|.	ENSG00000029363|ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000031135;ENST00000392348|ENST00000534762	T;T;T;T;T;T;T|.	0.54866|.	2.42;2.67;2.67;2.14;2.42;0.55;2.67|.	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	0.085776|.	0.50627|.	D|.	0.000110|.	T|T	0.65080|0.65080	0.2657|0.2657	L|L	0.54323|0.54323	1.7|1.7	0.45139|0.45139	D|D	0.99815|0.99815	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;0.999|.	D;D;D;D;D|.	0.83275|.	0.982;0.992;0.982;0.992;0.996|.	T|T	0.61387|0.61387	-0.7073|-0.7073	10|5	0.72032|.	D|.	0.01|.	-2.1233|-2.1233	19.3961|19.3961	0.94607|0.94607	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	870;151;821;872;699|.	Q9NYF8-2;B7Z8J9;Q9NYF8-3;Q9NYF8;Q9NYF8-4|.	.;.;.;BCLF1_HUMAN;.|.	C|L	872;821;823;699;870;90;821|138	ENSP00000435210:G872C;ENSP00000229446:G821C;ENSP00000435441:G823C;ENSP00000436501:G699C;ENSP00000434826:G870C;ENSP00000031135:G90C;ENSP00000376159:G821C|.	ENSP00000031135:G90C|.	G|W	-|-	1|2	0|0	BCLAF1|BCLAF1	136624239|136624239	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.674000|4.674000	0.61612|0.61612	2.581000|2.581000	0.87130|0.87130	0.655000|0.655000	0.94253|0.94253	GGC|TGG		0.423	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		21	127	1	0	3.5997e-14	0.014323	5.49107e-14	21	127				
TMEM181	57583	broad.mit.edu	37	6	159029488	159029488	+	Missense_Mutation	SNP	G	G	A	rs201228986		TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr6:159029488G>A	ENST00000367090.3	+	9	1219	c.1208G>A	c.(1207-1209)cGt>cAt	p.R403H		NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN	transmembrane protein 181	403					pathogenesis (GO:0009405)	integral component of membrane (GO:0016021)	toxic substance binding (GO:0015643)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		CACGGGATTCGTGTCCAGGTG	0.602																																							uc003qrm.3		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1207-1209)CGT>CAT		G protein-coupled receptor 178							123.0	122.0	123.0					6																	159029488		2099	4243	6342	SO:0001583	missense	57583				pathogenesis	integral to membrane	toxin binding	g.chr6:159029488G>A	AB037844	CCDS43520.1	6q25.3	2012-08-10	2006-10-19	2006-10-19	ENSG00000146433	ENSG00000146433			20958	protein-coding gene	gene with protein product		613209	"""G protein-coupled receptor 178"", ""KIAA1423"""	KIAA1423, GPR178		16452613	Standard	NM_020823		Approved		uc003qrm.4	Q9P2C4	OTTHUMG00000015913	ENST00000367090.3:c.1208G>A	6.37:g.159029488G>A	ENSP00000356057:p.Arg403His					TMEM181_uc010kjr.1_Missense_Mutation_p.R234H	p.R403H	NM_020823	NP_065874	Q9P2C4	TM181_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)	9	1219	+		Breast(66;0.000776)|Ovarian(120;0.0303)	403					Q5VTU1	Missense_Mutation	SNP	ENST00000367090.3	37	c.1208G>A	CCDS43520.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.325809	0.81580	.	.	ENSG00000146433	ENST00000314630;ENST00000367090	T	0.53423	0.62	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.59878	0.2226	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.55095	-0.8194	10	0.35671	T	0.21	.	18.2103	0.89868	0.0:0.0:1.0:0.0	.	403	Q9P2C4	TM181_HUMAN	H	310;403	ENSP00000356057:R403H	ENSP00000323755:R310H	R	+	2	0	TMEM181	158949476	1.000000	0.71417	0.825000	0.32803	0.260000	0.26232	8.846000	0.92159	2.577000	0.86979	0.650000	0.86243	CGT		0.602	TMEM181-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042873.1	NM_020823		28	51	0	0	0	0.003271	0	28	51				
FOXK1	221937	broad.mit.edu	37	7	4798734	4798734	+	Missense_Mutation	SNP	G	G	T	rs138350134		TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr7:4798734G>T	ENST00000328914.4	+	6	1297	c.1297G>T	c.(1297-1299)Ggc>Tgc	p.G433C	FOXK1_ENST00000446823.1_Missense_Mutation_p.G270C	NM_001037165.1	NP_001032242.1			forkhead box K1											breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		TCGCTCCGGCGGCCTGCAGAC	0.662																																							uc003snc.1		NA																	0				upper_aerodigestive_tract(1)|skin(1)	2						c.(1297-1299)GGC>TGC		forkhead box K1		G	CYS/GLY	0,4406		0,0,2203	76.0	82.0	80.0		1297	5.9	1.0	7	dbSNP_134	80	1,8599	1.2+/-3.3	0,1,4299	no	missense	FOXK1	NM_001037165.1	159	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	probably-damaging	433/734	4798734	1,13005	2203	4300	6503	SO:0001583	missense	221937				cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion 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.chr7:4798734G>T	BK004104	CCDS34591.1	7p22	2006-12-15			ENSG00000164916	ENSG00000164916		"""Forkhead boxes"""	23480	protein-coding gene	gene with protein product						15202027	Standard	NM_001037165		Approved	IMAGE:5164497	uc003snc.1	P85037	OTTHUMG00000151739	ENST00000328914.4:c.1297G>T	7.37:g.4798734G>T	ENSP00000328720:p.Gly433Cys					FOXK1_uc003sna.1_Missense_Mutation_p.G270C	p.G433C	NM_001037165	NP_001032242	P85037	FOXK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)	6	1307	+		Ovarian(82;0.0175)	433						Missense_Mutation	SNP	ENST00000328914.4	37	c.1297G>T	CCDS34591.1	.	.	.	.	.	.	.	.	.	.	g	33	5.233757	0.95207	0.0	1.16E-4	ENSG00000164916	ENST00000446823;ENST00000450194;ENST00000328914;ENST00000545598	D;D	0.96619	-3.8;-4.07	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.97785	0.9273	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98276	1.0506	10	0.87932	D	0	.	19.2294	0.93831	0.0:0.0:1.0:0.0	.	433;270	P85037;P85037-2	FOXK1_HUMAN;.	C	270;197;433;316	ENSP00000394442:G270C;ENSP00000328720:G433C	ENSP00000328720:G433C	G	+	1	0	FOXK1	4765260	1.000000	0.71417	0.971000	0.41717	0.933000	0.57130	9.860000	0.99555	2.793000	0.96121	0.558000	0.71614	GGC		0.662	FOXK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323729.2			33	58	1	0	7.93934e-33	0.00623	1.38746e-32	33	58				
CPVL	54504	broad.mit.edu	37	7	29103807	29103807	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr7:29103807G>A	ENST00000409850.1	-	15	1653	c.1007C>T	c.(1006-1008)cCa>cTa	p.P336L	CPVL_ENST00000265394.5_Missense_Mutation_p.P336L|CPVL_ENST00000396276.3_Missense_Mutation_p.P336L			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	336						extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						TCTCACCTCTGGGAGTGACAA	0.438																																							uc003szv.2		NA																	0				ovary(2)	2						c.(1006-1008)CCA>CTA		serine carboxypeptidase vitellogenic-like							91.0	92.0	91.0					7																	29103807		2203	4300	6503	SO:0001583	missense	54504				proteolysis		protein binding|serine-type carboxypeptidase activity	g.chr7:29103807G>A	AF106704	CCDS5419.1	7p15.1	2012-02-10			ENSG00000106066	ENSG00000106066			14399	protein-coding gene	gene with protein product	"""carboxypeptidase WUG"", ""vitellogenic carboxypeptidase-like protein"", ""CP-Mac carboxypeptidase"""	609780				11401439	Standard	XM_005249786		Approved		uc003szw.3	Q9H3G5	OTTHUMG00000023669	ENST00000409850.1:c.1007C>T	7.37:g.29103807G>A	ENSP00000387164:p.Pro336Leu					CPVL_uc003szw.2_Missense_Mutation_p.P336L|CPVL_uc003szx.2_Missense_Mutation_p.P336L	p.P336L	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN			11	1126	-			336					A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Missense_Mutation	SNP	ENST00000409850.1	37	c.1007C>T	CCDS5419.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.581185	0.65992	.	.	ENSG00000106066	ENST00000265394;ENST00000396276;ENST00000409850;ENST00000542995	T;T;T	0.34072	1.38;1.38;1.38	5.87	5.87	0.94306	.	0.256776	0.46145	D	0.000308	T	0.60586	0.2280	M	0.93638	3.44	0.80722	D	1	P	0.48911	0.917	P	0.47470	0.548	T	0.70547	-0.4842	10	0.56958	D	0.05	-1.284	19.3531	0.94398	0.0:0.0:1.0:0.0	.	336	Q9H3G5	CPVL_HUMAN	L	336;336;336;220	ENSP00000265394:P336L;ENSP00000379572:P336L;ENSP00000387164:P336L	ENSP00000265394:P336L	P	-	2	0	CPVL	29070332	1.000000	0.71417	0.563000	0.28383	0.289000	0.27227	7.192000	0.77771	2.941000	0.99782	0.655000	0.94253	CCA		0.438	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328305.1	NM_019029		10	18	0	0	0	0.010729	0	10	18				
HIP1	3092	broad.mit.edu	37	7	75221730	75221730	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr7:75221730C>T	ENST00000336926.6	-	3	313	c.287G>A	c.(286-288)tGc>tAc	p.C96Y	HIP1_ENST00000434438.2_Missense_Mutation_p.C96Y	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	96	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GAACACATGGCAGAACTTCCA	0.577			T	PDGFRB	CMML																																		uc003uds.1		NA		Dom	yes		7	7q11.23	3092	T	huntingtin interacting protein 1			L	PDGFRB		CMML		0				lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1)	8						c.(286-288)TGC>TAC		huntingtin interacting protein 1							82.0	67.0	72.0					7																	75221730		2203	4300	6503	SO:0001583	missense	3092				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	g.chr7:75221730C>T	AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.287G>A	7.37:g.75221730C>T	ENSP00000336747:p.Cys96Tyr					HIP1_uc011kfz.1_5'UTR	p.C96Y	NM_005338	NP_005329	O00291	HIP1_HUMAN			3	328	-			96			ENTH.		B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP	ENST00000336926.6	37	c.287G>A	CCDS34669.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.944573	0.92593	.	.	ENSG00000127946	ENST00000336926;ENST00000434438;ENST00000420909	T;T;T	0.32272	1.46;1.46;1.46	5.78	5.78	0.91487	ENTH/VHS (2);ANTH (1);Epsin-like, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.58637	0.2136	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.59952	-0.7357	10	0.72032	D	0.01	-23.2571	18.5649	0.91113	0.0:1.0:0.0:0.0	.	96	O00291	HIP1_HUMAN	Y	96;96;67	ENSP00000336747:C96Y;ENSP00000410300:C96Y;ENSP00000414280:C67Y	ENSP00000336747:C96Y	C	-	2	0	HIP1	75059666	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.735000	0.93741	0.557000	0.71058	TGC		0.577	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338		5	17	0	0	0	0.000602	0	5	17				
ANKIB1	54467	broad.mit.edu	37	7	92000845	92000845	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr7:92000845C>A	ENST00000265742.3	+	11	1917	c.1541C>A	c.(1540-1542)aCt>aAt	p.T514N		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	514							zinc ion binding (GO:0008270)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGGTTATTAACTAACTCCAAG	0.398																																							uc003ulw.2		NA																	0				lung(1)	1						c.(1540-1542)ACT>AAT		ankyrin repeat and IBR domain containing 1							72.0	67.0	69.0					7																	92000845		1904	4124	6028	SO:0001583	missense	54467						protein binding|zinc ion binding	g.chr7:92000845C>A	AB037807	CCDS47639.1	7q21.3	2013-01-10			ENSG00000001629	ENSG00000001629		"""Ankyrin repeat domain containing"""	22215	protein-coding gene	gene with protein product							Standard	NM_019004		Approved	DKFZP434A0225, KIAA1386	uc003ulw.2	Q9P2G1	OTTHUMG00000155859	ENST00000265742.3:c.1541C>A	7.37:g.92000845C>A	ENSP00000265742:p.Thr514Asn					ANKIB1_uc010lew.1_5'UTR	p.T514N	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		11	1917	+	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		514					Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Missense_Mutation	SNP	ENST00000265742.3	37	c.1541C>A	CCDS47639.1	.	.	.	.	.	.	.	.	.	.	C	31	5.088332	0.94100	.	.	ENSG00000001629	ENST00000265742	D	0.93247	-3.19	5.39	5.39	0.77823	Zinc finger, C6HC-type (1);	0.105732	0.64402	D	0.000003	D	0.92273	0.7549	L	0.28014	0.82	0.53688	D	0.999978	P	0.43231	0.801	P	0.48770	0.589	D	0.93173	0.6568	10	0.87932	D	0	.	19.5141	0.95155	0.0:1.0:0.0:0.0	.	514	Q9P2G1	AKIB1_HUMAN	N	514	ENSP00000265742:T514N	ENSP00000265742:T514N	T	+	2	0	ANKIB1	91838781	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.926000	0.63433	2.698000	0.92095	0.563000	0.77884	ACT		0.398	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1			3	5	1	0	2.56e-06	0.009096	3.072e-06	3	5				
FLNC	2318	broad.mit.edu	37	7	128470746	128470746	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr7:128470746G>A	ENST00000325888.8	+	1	316	c.55G>A	c.(55-57)Gac>Aac	p.D19N	FLNC_ENST00000346177.6_Missense_Mutation_p.D19N	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	19	Actin-binding.				cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CGATGAGACAGACGAGATGCC	0.657																																							uc003vnz.3		NA																	0				breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						c.(55-57)GAC>AAC		gamma filamin isoform a							33.0	34.0	34.0					7																	128470746		2201	4300	6501	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128470746G>A	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.55G>A	7.37:g.128470746G>A	ENSP00000327145:p.Asp19Asn					FLNC_uc003voa.3_Missense_Mutation_p.D19N	p.D19N	NM_001458	NP_001449	Q14315	FLNC_HUMAN			1	264	+			19			Actin-binding.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.55G>A	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.332974	0.41297	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	T;T	0.59502	0.26;0.26	4.04	3.15	0.36227	.	0.214020	0.37053	N	0.002279	T	0.44456	0.1294	L	0.36672	1.1	0.40452	D	0.980151	B;B	0.34329	0.449;0.22	B;B	0.31614	0.133;0.069	T	0.42932	-0.9422	10	0.48119	T	0.1	.	10.9282	0.47203	0.0966:0.0:0.9034:0.0	.	19;19	Q14315-2;Q14315	.;FLNC_HUMAN	N	19	ENSP00000327145:D19N;ENSP00000344002:D19N	ENSP00000327145:D19N	D	+	1	0	FLNC	128257982	1.000000	0.71417	0.999000	0.59377	0.079000	0.17450	7.326000	0.79133	0.813000	0.34350	-0.333000	0.08304	GAC		0.657	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			8	15	0	0	0	0.006214	0	8	15				
DEFA6	1671	broad.mit.edu	37	8	6783429	6783429	+	Silent	SNP	C	C	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr8:6783429C>T	ENST00000297436.2	-	1	169	c.129G>A	c.(127-129)ggG>ggA	p.G43G	GS1-24F4.3_ENST00000526235.1_RNA	NM_001926.3	NP_001917.1	Q01524	DEF6_HUMAN	defensin, alpha 6, Paneth cell-specific	43					antibacterial humoral response (GO:0019731)|defense response to fungus (GO:0050832)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)				lung(4)	4			STAD - Stomach adenocarcinoma(24;0.0322)	COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		GGTCATTTGCCCCACGCTGCT	0.552																																							uc003wqt.2		NA																	0					0						c.(127-129)GGG>GGA		defensin, alpha 6 preproprotein							70.0	57.0	62.0					8																	6783429		2203	4300	6503	SO:0001819	synonymous_variant	1671				defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space		g.chr8:6783429C>T	M98331	CCDS5960.1	8p23.1	2007-02-20			ENSG00000164822	ENSG00000164822		"""Defensins, alpha"""	2765	protein-coding gene	gene with protein product		600471				8417977	Standard	NM_001926		Approved	HD-6, DEF6	uc003wqt.3	Q01524	OTTHUMG00000149984	ENST00000297436.2:c.129G>A	8.37:g.6783429C>T							p.G43G	NM_001926	NP_001917	Q01524	DEF6_HUMAN	STAD - Stomach adenocarcinoma(24;0.0322)	COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)	1	170	-			43					Q6EZF9	Silent	SNP	ENST00000297436.2	37	c.129G>A	CCDS5960.1																																																																																				0.552	DEFA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206739.1	NM_001926		3	9	0	0	0	0.004672	0	3	9				
ADAM18	8749	broad.mit.edu	37	8	39494786	39494786	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr8:39494786G>T	ENST00000265707.5	+	8	637	c.592G>T	c.(592-594)Gat>Tat	p.D198Y	ADAM18_ENST00000379866.1_Intron|ADAM18_ENST00000541111.1_5'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	198	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TTTTCAGTATGATTATATGGG	0.274																																							uc003xni.2		NA																	0				central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1)	6						c.(592-594)GAT>TAT		a disintegrin and metalloprotease domain 18							60.0	64.0	63.0					8																	39494786		2203	4290	6493	SO:0001583	missense	8749				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	g.chr8:39494786G>T	AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"""ADAM metallopeptidase domain containing"""	196	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 18"""			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.592G>T	8.37:g.39494786G>T	ENSP00000265707:p.Asp198Tyr					ADAM18_uc010lww.2_RNA|ADAM18_uc010lwx.2_Intron	p.D198Y	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000199)		8	592	+		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	198			Peptidase M12B.|Extracellular (Potential).		B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Missense_Mutation	SNP	ENST00000265707.5	37	c.592G>T	CCDS6113.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.000870	0.54254	.	.	ENSG00000168619	ENST00000265707	T	0.64618	-0.11	5.11	3.27	0.37495	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.348037	0.21249	N	0.077665	T	0.76104	0.3941	M	0.80982	2.52	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.76691	-0.2866	10	0.59425	D	0.04	.	8.1552	0.31165	0.1873:0.0:0.8127:0.0	.	198	Q9Y3Q7	ADA18_HUMAN	Y	198	ENSP00000265707:D198Y	ENSP00000265707:D198Y	D	+	1	0	ADAM18	39613943	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	0.886000	0.28241	1.397000	0.46682	0.650000	0.86243	GAT		0.274	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237		10	22	1	0	6.40141e-05	0.010729	7.11268e-05	10	22				
HOOK3	84376	broad.mit.edu	37	8	42863022	42863022	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr8:42863022A>G	ENST00000307602.4	+	18	1888	c.1688A>G	c.(1687-1689)cAg>cGg	p.Q563R	HOOK3_ENST00000524839.1_3'UTR	NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	563	Required for association with Golgi.|Required for interaction with MSR1.				cytoplasmic microtubule organization (GO:0031122)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|Golgi localization (GO:0051645)|interkinetic nuclear migration (GO:0022027)|lysosome organization (GO:0007040)|microtubule anchoring at centrosome (GO:0034454)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|protein localization to centrosome (GO:0071539)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|FHF complex (GO:0070695)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|pericentriolar material (GO:0000242)	identical protein binding (GO:0042802)|microtubule binding (GO:0008017)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			AATGAACTACAGAAGAAGAGA	0.373			T	RET	papillary thyroid																																		uc003xpr.2		NA		Dom	yes		8	8p11.21	84376	T	hook homolog 3			E	RET		papillary thyroid		0				ovary(1)|breast(1)	2						c.(1687-1689)CAG>CGG		golgi-associated microtubule-binding protein							137.0	129.0	132.0					8																	42863022		2203	4300	6503	SO:0001583	missense	84376				cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding	g.chr8:42863022A>G	AK090540	CCDS6139.1	8p11.21	2013-08-21	2013-08-21		ENSG00000168172	ENSG00000168172			23576	protein-coding gene	gene with protein product		607825	"""hook homolog 3 (Drosophila)"""			9927460	Standard	NM_032410		Approved	HK3	uc003xpr.3	Q86VS8	OTTHUMG00000165278	ENST00000307602.4:c.1688A>G	8.37:g.42863022A>G	ENSP00000305699:p.Gln563Arg						p.Q563R	NM_032410	NP_115786	Q86VS8	HOOK3_HUMAN	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)		18	1930	+	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	563			Potential.|Required for interaction with MSR1.|Required for association with Golgi.		D3DSY8|Q8NBH0|Q9BY13	Missense_Mutation	SNP	ENST00000307602.4	37	c.1688A>G	CCDS6139.1	.	.	.	.	.	.	.	.	.	.	A	12.88	2.070727	0.36566	.	.	ENSG00000168172	ENST00000307602;ENST00000533539	T;T	0.78707	2.18;-1.2	5.63	5.63	0.86233	.	0.165528	0.53938	D	0.000060	T	0.79621	0.4477	L	0.49455	1.56	0.47341	D	0.999399	P	0.37594	0.601	P	0.46144	0.505	T	0.78295	-0.2259	10	0.38643	T	0.18	-12.9995	16.1381	0.81502	1.0:0.0:0.0:0.0	.	563	Q86VS8	HOOK3_HUMAN	R	563;41	ENSP00000305699:Q563R;ENSP00000433953:Q41R	ENSP00000305699:Q563R	Q	+	2	0	HOOK3	42982179	1.000000	0.71417	0.997000	0.53966	0.441000	0.31987	5.175000	0.65021	2.258000	0.74832	0.533000	0.62120	CAG		0.373	HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383172.2	NM_032410		16	41	0	0	0	0.00333	0	16	41				
SNTG1	54212	broad.mit.edu	37	8	51363285	51363285	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr8:51363285A>T	ENST00000522124.1	+	8	1020	c.359A>T	c.(358-360)gAa>gTa	p.E120V	SNTG1_ENST00000276467.5_Missense_Mutation_p.E120V|SNTG1_ENST00000518864.1_Missense_Mutation_p.E120V|SNTG1_ENST00000517473.1_Missense_Mutation_p.E120V	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	120	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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)				AGACATGAAGAAGTGGTGAGT	0.333																																							uc010lxy.1		NA																	0				ovary(5)	5						c.(358-360)GAA>GTA		syntrophin, gamma 1							138.0	129.0	132.0					8																	51363285		2202	4299	6501	SO:0001583	missense	54212				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	g.chr8:51363285A>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.359A>T	8.37:g.51363285A>T	ENSP00000429842:p.Glu120Val					SNTG1_uc003xqs.1_Missense_Mutation_p.E120V|SNTG1_uc010lxz.1_Missense_Mutation_p.E120V|SNTG1_uc011ldl.1_RNA	p.E120V	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN			9	730	+		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)	120			PDZ.		Q2M3Q0|Q9NY98	Missense_Mutation	SNP	ENST00000522124.1	37	c.359A>T	CCDS6147.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.210184	0.79240	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.4	5.4	0.78164	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.68504	0.3008	M	0.78801	2.425	0.80722	D	1	D;D	0.89917	1.0;0.991	D;D	0.81914	0.995;0.991	T	0.73139	-0.4077	10	0.87932	D	0	.	13.38	0.60762	1.0:0.0:0.0:0.0	.	120;120	Q9NSN8-2;Q9NSN8	.;SNTG1_HUMAN	V	120	ENSP00000429276:E120V;ENSP00000429842:E120V;ENSP00000431123:E120V;ENSP00000276467:E120V	ENSP00000276467:E120V	E	+	2	0	SNTG1	51525838	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.440000	0.73435	2.043000	0.60533	0.533000	0.62120	GAA		0.333	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1			4	18	0	0	0	0.000602	0	4	18				
PLEC	5339	broad.mit.edu	37	8	145011192	145011192	+	Silent	SNP	G	G	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr8:145011192G>A	ENST00000322810.4	-	5	970	c.801C>T	c.(799-801)ccC>ccT	p.P267P	PLEC_ENST00000527096.1_Silent_p.P157P|PLEC_ENST00000345136.3_Silent_p.P130P|PLEC_ENST00000356346.3_Silent_p.P116P|PLEC_ENST00000354589.3_Silent_p.P130P|PLEC_ENST00000436759.2_Silent_p.P157P|PLEC_ENST00000354958.2_Silent_p.P108P|PLEC_ENST00000398774.2_Silent_p.P98P|PLEC_ENST00000357649.2_Silent_p.P134P	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	267	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.|Globular 1.				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						GGGTCAGCTTGGGGTTGCCGT	0.617																																							uc003zaf.1		NA																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(799-801)CCC>CCT		plectin isoform 1							98.0	105.0	102.0					8																	145011192		2158	4286	6444	SO:0001819	synonymous_variant	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.chr8:145011192G>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.801C>T	8.37:g.145011192G>A						PLEC_uc003zab.1_Silent_p.P130P|PLEC_uc003zac.1_Silent_p.P134P|PLEC_uc003zad.2_Silent_p.P130P|PLEC_uc003zae.1_Silent_p.P98P|PLEC_uc003zag.1_Silent_p.P108P|PLEC_uc003zah.2_Silent_p.P116P|PLEC_uc003zaj.2_Silent_p.P157P	p.P267P	NM_201380	NP_958782	Q15149	PLEC_HUMAN			5	971	-			267			CH 1.|Globular 1.|Actin-binding.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.801C>T	CCDS43772.1																																																																																				0.617	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		15	61	0	0	0	0.008871	0	15	61				
LINGO2	158038	broad.mit.edu	37	9	27950644	27950644	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr9:27950644C>A	ENST00000379992.2	-	6	475	c.26G>T	c.(25-27)tGg>tTg	p.W9L	LINGO2_ENST00000308675.3_Missense_Mutation_p.W9L	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	9						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GAATGGCTGCCAGCATGATAT	0.537																																							uc003zqu.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(25-27)TGG>TTG		leucine rich repeat and Ig domain containing 2							64.0	50.0	55.0					9																	27950644		2203	4300	6503	SO:0001583	missense	158038					integral to membrane		g.chr9:27950644C>A	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.26G>T	9.37:g.27950644C>A	ENSP00000369328:p.Trp9Leu					LINGO2_uc010mjf.1_Missense_Mutation_p.W9L|LINGO2_uc003zqv.1_Missense_Mutation_p.W9L	p.W9L	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	2	220	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	9					A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	ENST00000379992.2	37	c.26G>T	CCDS6524.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.351625	0.61183	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	T;T	0.55930	0.49;0.49	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.46483	0.1395	L	0.45285	1.41	0.58432	D	0.999999	B	0.29835	0.258	B	0.31442	0.13	T	0.29971	-0.9994	9	.	.	.	.	15.0502	0.71862	0.142:0.858:0.0:0.0	.	9	Q7L985	LIGO2_HUMAN	L	9	ENSP00000369328:W9L;ENSP00000310126:W9L	.	W	-	2	0	LINGO2	27940644	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.679000	0.61649	2.873000	0.98535	0.561000	0.74099	TGG		0.537	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		10	21	1	0	5.50884e-06	0.013537	6.39736e-06	10	21				
PGM5	5239	broad.mit.edu	37	9	70993155	70993155	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr9:70993155C>A	ENST00000396396.1	+	2	531	c.302C>A	c.(301-303)aCa>aAa	p.T101K	PGM5_ENST00000396392.1_Missense_Mutation_p.T101K|PGM5_ENST00000604870.2_3'UTR	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	101					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						ATCTTGTCGACACCTGCGGTC	0.473																																							uc004agr.2		NA																	0				ovary(1)|pancreas(1)	2						c.(301-303)ACA>AAA		phosphoglucomutase 5							32.0	35.0	34.0					9																	70993155		2199	4285	6484	SO:0001583	missense	5239				cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity	g.chr9:70993155C>A	L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"""phosphoglucomutase-related protein"""	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.302C>A	9.37:g.70993155C>A	ENSP00000379678:p.Thr101Lys						p.T101K	NM_021965	NP_068800	Q15124	PGM5_HUMAN			2	531	+			101					B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Missense_Mutation	SNP	ENST00000396396.1	37	c.302C>A	CCDS6622.2	.	.	.	.	.	.	.	.	.	.	.	23.7	4.443169	0.83993	.	.	ENSG00000154330	ENST00000396396;ENST00000396392;ENST00000377314;ENST00000431583	D;D;D	0.82255	-1.59;-1.59;-1.59	4.37	4.37	0.52481	Alpha-D-phosphohexomutase, alpha/beta/alpha domain I (1);Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);	0.000000	0.85682	U	0.000000	D	0.94863	0.8340	H	0.98918	4.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97186	0.9854	10	0.87932	D	0	.	16.0292	0.80564	0.0:1.0:0.0:0.0	.	101	Q15124	PGM5_HUMAN	K	101;101;101;67	ENSP00000379678:T101K;ENSP00000379674:T101K;ENSP00000394864:T67K	ENSP00000366531:T101K	T	+	2	0	PGM5	70182975	1.000000	0.71417	0.858000	0.33744	0.884000	0.51177	7.647000	0.83462	2.131000	0.65755	0.544000	0.68410	ACA		0.473	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052548.2	NM_021965		6	16	1	0	3.09899e-07	0.004482	3.87373e-07	6	16				
PTCH1	5727	broad.mit.edu	37	9	98220527	98220527	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr9:98220527T>C	ENST00000331920.6	-	18	3235	c.2936A>G	c.(2935-2937)aAc>aGc	p.N979S	PTCH1_ENST00000418258.1_Missense_Mutation_p.N828S|PTCH1_ENST00000421141.1_Missense_Mutation_p.N828S|PTCH1_ENST00000430669.2_Missense_Mutation_p.N913S|PTCH1_ENST00000429896.2_Missense_Mutation_p.N828S|PTCH1_ENST00000375274.2_Missense_Mutation_p.N978S|PTCH1_ENST00000437951.1_Missense_Mutation_p.N913S	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	979					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.I963fs*2(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CCGCAAGCCGTTGAGGTAGAA	0.562																																							uc004avk.3		NA																	1	Deletion - Frameshift(1)	p.I963fs*2(1)	central_nervous_system(1)	skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379						c.(2935-2937)AAC>AGC		patched isoform L							41.0	36.0	38.0					9																	98220527		2203	4300	6503	SO:0001583	missense	5727	Basal_Cell_Nevus_syndrome			embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	g.chr9:98220527T>C	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.2936A>G	9.37:g.98220527T>C	ENSP00000332353:p.Asn979Ser					PTCH1_uc010mro.2_Missense_Mutation_p.N828S|PTCH1_uc010mrp.2_Missense_Mutation_p.N828S|PTCH1_uc010mrq.2_Missense_Mutation_p.N828S|PTCH1_uc004avl.3_Missense_Mutation_p.N828S|PTCH1_uc010mrr.2_Missense_Mutation_p.N913S|PTCH1_uc004avm.3_Missense_Mutation_p.N978S	p.N979S	NM_000264	NP_000255	Q13635	PTC1_HUMAN			18	3124	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	979			Extracellular (Potential).		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	c.2936A>G	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	T	14.00	2.404491	0.42613	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000375275;ENST00000430669;ENST00000429896;ENST00000375274	D;D;D;D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89;-1.89;-1.89;-1.89	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.76659	0.4018	L	0.31371	0.925	0.80722	D	1	B;P;B	0.36010	0.104;0.532;0.213	B;B;B	0.32928	0.155;0.122;0.086	T	0.75243	-0.3386	10	0.25106	T	0.35	-37.0521	15.5441	0.76081	0.0:0.0:0.0:1.0	.	913;978;979	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	S	979;913;828;828;415;913;828;978	ENSP00000332353:N979S;ENSP00000389744:N913S;ENSP00000399981:N828S;ENSP00000396135:N828S;ENSP00000410287:N913S;ENSP00000414823:N828S;ENSP00000364423:N978S	ENSP00000332353:N979S	N	-	2	0	PTCH1	97260348	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	4.683000	0.61679	2.317000	0.78254	0.459000	0.35465	AAC		0.562	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		4	18	0	0	0	0.009096	0	4	18				
LPAR1	1902	broad.mit.edu	37	9	113704290	113704290	+	Silent	SNP	T	T	C	rs145661148		TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr9:113704290T>C	ENST00000374431.3	-	4	587	c.204A>G	c.(202-204)ctA>ctG	p.L68L	LPAR1_ENST00000541779.1_Silent_p.L69L|LPAR1_ENST00000358883.4_Silent_p.L68L|LPAR1_ENST00000538760.1_Silent_p.L69L|LPAR1_ENST00000374430.2_Silent_p.L68L	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	68					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|bleb assembly (GO:0032060)|cellular response to oxygen levels (GO:0071453)|G-protein coupled receptor signaling pathway (GO:0007186)|myelination (GO:0042552)|negative regulation of neuron projection development (GO:0010977)|positive regulation of apoptotic process (GO:0043065)|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 dendritic spine development (GO:0060999)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell chemotaxis (GO:0071673)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						CCATGACCAATAGGTTGGCCA	0.468																																					NSCLC(115;661 2323 9836 34256)	NSCLC(115;661 2323 9836 34256)	uc004bfa.2		NA																	0				ovary(2)	2						c.(202-204)CTA>CTG		lysophosphatidic acid receptor 1		T	,	2,4404	4.2+/-10.8	0,2,2201	100.0	94.0	96.0		204,204	-10.7	0.0	9	dbSNP_134	96	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	LPAR1	NM_001401.3,NM_057159.2	,	0,2,6501	CC,CT,TT		0.0,0.0454,0.0154	,	68/365,68/365	113704290	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	1902				positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane		g.chr9:113704290T>C	U80811	CCDS6777.1	9q	2012-08-08	2008-04-11	2008-04-11	ENSG00000198121	ENSG00000198121		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	3166	protein-coding gene	gene with protein product		602282	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2"""	EDG2		8922387, 9070858	Standard	NM_001401		Approved	edg-2, rec.1.3, vzg-1, Gpcr26, Mrec1.3, LPA1, GPR26	uc004bfc.3	Q92633	OTTHUMG00000020486	ENST00000374431.3:c.204A>G	9.37:g.113704290T>C						LPAR1_uc011lwm.1_Silent_p.L69L|LPAR1_uc004bfb.2_Silent_p.L68L|LPAR1_uc004bfc.2_Silent_p.L68L|LPAR1_uc011lwn.1_Silent_p.L50L|LPAR1_uc011lwo.1_Silent_p.L69L|LPAR1_uc010mub.2_Silent_p.L68L	p.L68L	NM_057159	NP_476500	Q92633	LPAR1_HUMAN			4	459	-			68			Helical; Name=1; (Potential).		B4DK36|O00656|O00722|P78351	Silent	SNP	ENST00000374431.3	37	c.204A>G	CCDS6777.1																																																																																				0.468	LPAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053631.1	NM_057159		14	46	0	0	0	0.00499	0	14	46				
RC3H2	54542	broad.mit.edu	37	9	125613429	125613429	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr9:125613429G>A	ENST00000373670.1	-	19	3911	c.3311C>T	c.(3310-3312)cCa>cTa	p.P1104L	RC3H2_ENST00000357244.2_Missense_Mutation_p.P1104L			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	1104					B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CTGCTGTACTGGATGCCCATT	0.388																																							uc010mwc.1		NA																	0				ovary(2)|lung(2)	4						c.(3310-3312)CCA>CTA		ring finger and CCCH-type zinc finger domains 2							174.0	167.0	169.0					9																	125613429		1951	4152	6103	SO:0001583	missense	54542					cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding	g.chr9:125613429G>A	AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	21461	protein-coding gene	gene with protein product		615231	"""membrane associated DNA binding protein"", ""ring finger and CCCH-type zinc finger domains 2"""	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.3311C>T	9.37:g.125613429G>A	ENSP00000362774:p.Pro1104Leu					uc004bnb.1_5'Flank|RC3H2_uc004bnc.2_RNA	p.P1104L	NM_001100588	NP_001094058	Q9HBD1	RC3H2_HUMAN			20	3552	-			1104					Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	ENST00000373670.1	37	c.3311C>T	CCDS43874.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.13|16.13	3.034615|3.034615	0.54896|0.54896	.|.	.|.	ENSG00000056586|ENSG00000056586	ENST00000373670;ENST00000357244|ENST00000454740	T;T|.	0.43294|.	0.95;0.95|.	5.89|5.89	5.89|5.89	0.94794|0.94794	.|.	0.297846|.	0.29362|.	N|.	0.012378|.	T|.	0.37461|.	0.1004|.	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|.	0.27054|.	-1.0085|.	10|.	0.52906|.	T|.	0.07|.	-16.3039|-16.3039	12.6961|12.6961	0.57005|0.57005	0.0776:0.0:0.9224:0.0|0.0776:0.0:0.9224:0.0	.|.	1104|.	Q9HBD1|.	RC3H2_HUMAN|.	L|X	1104|163	ENSP00000362774:P1104L;ENSP00000349783:P1104L|.	ENSP00000349783:P1104L|.	P|Q	-|-	2|1	0|0	RC3H2|RC3H2	124653250|124653250	0.970000|0.970000	0.33590|0.33590	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	2.862000|2.862000	0.48388|0.48388	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	CCA|CAG		0.388	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	NM_018835		26	64	0	0	0	0.004656	0	26	64				
RS1	6247	broad.mit.edu	37	X	18675776	18675776	+	Missense_Mutation	SNP	C	C	A	rs281865339		TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chrX:18675776C>A	ENST00000379984.3	-	2	102	c.62G>T	c.(61-63)gGa>gTa	p.G21V		NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	21					adaptation of rhodopsin mediated signaling (GO:0016062)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|retina layer formation (GO:0010842)|visual perception (GO:0007601)	extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					AGACGATAATCCCAATGTGGC	0.338																																							uc004cyo.2		NA																	0				ovary(2)	2						c.(61-63)GGA>GTA		X-linked juvenile retinoschisis protein							112.0	97.0	102.0					X																	18675776		2203	4300	6503	SO:0001583	missense	6247				cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space		g.chrX:18675776C>A	AF014459	CCDS14187.1	Xp22.2-p22.1	2014-09-17	2008-07-29		ENSG00000102104	ENSG00000102104			10457	protein-coding gene	gene with protein product		300839	"""retinoschisis (X-linked, juvenile) 1"""	RS		9326935, 17804407	Standard	NM_000330		Approved	XLRS1	uc004cyo.3	O15537	OTTHUMG00000021216	ENST00000379984.3:c.62G>T	X.37:g.18675776C>A	ENSP00000369320:p.Gly21Val						p.G21V	NM_000330	NP_000321	O15537	XLRS1_HUMAN			2	97	-	Hepatocellular(33;0.183)		21					Q0QD39	Missense_Mutation	SNP	ENST00000379984.3	37	c.62G>T	CCDS14187.1	.	.	.	.	.	.	.	.	.	.	C	6.915	0.538532	0.13250	.	.	ENSG00000102104	ENST00000379984	D	0.98207	-4.79	4.1	4.1	0.47936	.	0.404759	0.25695	N	0.028916	D	0.95146	0.8427	L	0.38175	1.15	0.54753	D	0.999989	B	0.13145	0.007	B	0.15052	0.012	D	0.92335	0.5877	10	0.27082	T	0.32	.	10.7196	0.46032	0.0:1.0:0.0:0.0	.	21	O15537	XLRS1_HUMAN	V	21	ENSP00000369320:G21V	ENSP00000369320:G21V	G	-	2	0	RS1	18585697	1.000000	0.71417	1.000000	0.80357	0.110000	0.19582	3.014000	0.49590	2.292000	0.77174	0.594000	0.82650	GGA		0.338	RS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055949.1			10	38	1	0	4.3838e-07	0.001855	5.44196e-07	10	38				
PHEX	5251	broad.mit.edu	37	X	22129677	22129677	+	Splice_Site	SNP	G	G	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chrX:22129677G>A	ENST00000379374.4	+	10	1737	c.1172G>A	c.(1171-1173)aGg>aAg	p.R391K	PHEX_ENST00000418858.3_Splice_Site_p.R94K|PHEX_ENST00000535894.1_Splice_Site_p.R294K|PHEX_ENST00000537599.1_Splice_Site_p.R391K	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	391					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						GAATTCTCAAGGGTAAGTTTA	0.383																																							uc004dah.2		NA																	0				ovary(2)|lung(1)	3						c.(1171-1173)AGG>AAG		phosphate-regulating neutral endopeptidase							118.0	111.0	113.0					X																	22129677		2203	4300	6503	SO:0001630	splice_region_variant	5251				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding	g.chrX:22129677G>A	U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"""phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"""	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.1173+1G>A	X.37:g.22129677G>A						PHEX_uc011mjr.1_Missense_Mutation_p.R391K|PHEX_uc011mjs.1_Missense_Mutation_p.R294K	p.R391K	NM_000444	NP_000435	P78562	PHEX_HUMAN			10	1375	+			391			Extracellular (Potential).		O00678|Q13646|Q2M325|Q93032|Q99827	Missense_Mutation	SNP	ENST00000379374.4	37	c.1172G>A	CCDS14204.1	.	.	.	.	.	.	.	.	.	.	G	10.77	1.444534	0.25987	.	.	ENSG00000102174	ENST00000379374;ENST00000537599;ENST00000535894;ENST00000418858	T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61	5.58	5.58	0.84498	Peptidase M13 (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.48840	0.1522	N	0.05012	-0.13	0.58432	D	0.999996	P;P	0.42296	0.734;0.775	B;B	0.39660	0.203;0.306	T	0.56872	-0.7907	10	0.02654	T	1	.	18.2521	0.90007	0.0:0.0:1.0:0.0	.	391;391	F5GXU4;P78562	.;PHEX_HUMAN	K	391;391;294;94	ENSP00000368682:R391K;ENSP00000440362:R391K;ENSP00000439418:R294K;ENSP00000443531:R94K	ENSP00000368682:R391K	R	+	2	0	PHEX	22039598	1.000000	0.71417	0.993000	0.49108	0.992000	0.81027	7.944000	0.87722	2.349000	0.79799	0.600000	0.82982	AGG		0.383	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056035.1	NM_000444	Missense_Mutation	19	40	0	0	0	0.008871	0	19	40				
GRIPAP1	56850	broad.mit.edu	37	X	48858616	48858616	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chrX:48858616C>G	ENST00000376441.1	-	1	59	c.25G>C	c.(25-27)Gag>Cag	p.E9Q	GRIPAP1_ENST00000376444.3_Missense_Mutation_p.E9Q|GRIPAP1_ENST00000376423.4_Missense_Mutation_p.E9Q|GRIPAP1_ENST00000376425.3_Missense_Mutation_p.E9Q	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	9						blood microparticle (GO:0072562)|endosome (GO:0005768)				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						CGCTGAAACTCCTCCTCAGAC	0.657																																							uc004dly.1		NA																	0				breast(2)|kidney(1)	3						c.(25-27)GAG>CAG		GRIP1 associated protein 1 isoform 1							49.0	44.0	46.0					X																	48858616		2203	4300	6503	SO:0001583	missense	56850					early endosome		g.chrX:48858616C>G	AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.25G>C	X.37:g.48858616C>G	ENSP00000365624:p.Glu9Gln					GRIPAP1_uc004dma.2_Missense_Mutation_p.E9Q	p.E9Q	NM_020137	NP_064522	Q4V328	GRAP1_HUMAN			1	60	-			9			Potential.		A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	Missense_Mutation	SNP	ENST00000376441.1	37	c.25G>C	CCDS35248.1	.	.	.	.	.	.	.	.	.	.	c	29.3	4.996610	0.93167	.	.	ENSG00000068400	ENST00000376425;ENST00000376444;ENST00000376441;ENST00000537291;ENST00000376423	T;T;T;T	0.26957	1.7;1.7;1.7;1.7	5.45	5.45	0.79879	.	0.060661	0.64402	D	0.000005	T	0.50120	0.1597	M	0.71581	2.175	0.39548	D	0.968932	D;D	0.89917	0.998;1.0	D;D	0.85130	0.994;0.997	T	0.50154	-0.8861	10	0.46703	T	0.11	-21.5096	14.9769	0.71281	0.0:1.0:0.0:0.0	.	9;9	Q4V328-2;Q4V328	.;GRAP1_HUMAN	Q	9	ENSP00000365608:E9Q;ENSP00000365627:E9Q;ENSP00000365624:E9Q;ENSP00000365606:E9Q	ENSP00000365606:E9Q	E	-	1	0	GRIPAP1	48743560	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.917000	0.69989	2.518000	0.84900	0.540000	0.68198	GAG		0.657	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080970.2	NM_207672		13	61	0	0	0	0.004007	0	13	61				
KIF4A	24137	broad.mit.edu	37	X	69595170	69595170	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chrX:69595170C>A	ENST00000374403.3	+	17	1977	c.1895C>A	c.(1894-1896)aCt>aAt	p.T632N	KIF4A_ENST00000374388.3_Missense_Mutation_p.T632N	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	632					anterograde axon cargo transport (GO:0008089)|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)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						ACAGAGCGTACTGTCTCCAAA	0.413																																							uc004dyg.2		NA																	0				ovary(4)	4						c.(1894-1896)ACT>AAT		kinesin family member 4							105.0	92.0	96.0					X																	69595170		2203	4300	6503	SO:0001583	missense	24137				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding	g.chrX:69595170C>A	AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"""Kinesins"""	13339	protein-coding gene	gene with protein product	"""chromokinesin"""	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.1895C>A	X.37:g.69595170C>A	ENSP00000363524:p.Thr632Asn					KIF4A_uc010nkw.2_Missense_Mutation_p.T632N|KIF4A_uc004dyf.1_Missense_Mutation_p.T632N	p.T632N	NM_012310	NP_036442	O95239	KIF4A_HUMAN			17	2022	+			632			Potential.		B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP	ENST00000374403.3	37	c.1895C>A	CCDS14401.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.365162	0.41902	.	.	ENSG00000090889	ENST00000374388;ENST00000374403	T;T	0.17054	2.3;2.3	5.29	5.29	0.74685	.	0.000000	0.64402	D	0.000015	T	0.18964	0.0455	L	0.46157	1.445	0.50039	D	0.999849	B;B	0.30686	0.29;0.011	B;B	0.32624	0.149;0.036	T	0.03103	-1.1072	10	0.25751	T	0.34	.	16.8714	0.86041	0.0:1.0:0.0:0.0	.	632;632	O95239;O95239-2	KIF4A_HUMAN;.	N	632	ENSP00000363509:T632N;ENSP00000363524:T632N	ENSP00000363509:T632N	T	+	2	0	KIF4A	69511895	0.969000	0.33509	1.000000	0.80357	0.983000	0.72400	2.205000	0.42770	2.450000	0.82876	0.600000	0.82982	ACT		0.413	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1	NM_012310		22	44	1	0	9.39395e-14	0.00632	1.40909e-13	22	44				
ZCCHC12	170261	broad.mit.edu	37	X	117960178	117960178	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chrX:117960178G>T	ENST00000310164.2	+	4	1478	c.971G>T	c.(970-972)gGt>gTt	p.G324V		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	324					BMP signaling pathway (GO:0030509)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						ACCAGTGGTGGTTCTGGCTAT	0.542																																							uc004equ.2		NA																	0				ovary(1)	1						c.(970-972)GGT>GTT		zinc finger, CCHC domain containing 12							118.0	100.0	106.0					X																	117960178		2203	4300	6503	SO:0001583	missense	170261				regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	g.chrX:117960178G>T	AK122676	CCDS14574.1	Xq24	2013-10-11			ENSG00000174460	ENSG00000174460		"""Zinc fingers, CCHC domain containing"", ""Paraneoplastic Ma antigens"""	27273	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 7A"""	300701				21739307, 19578717	Standard	NM_173798		Approved	FLJ16123, SIZN, SIZN1, PNMA7A	uc004equ.3	Q6PEW1	OTTHUMG00000022261	ENST00000310164.2:c.971G>T	X.37:g.117960178G>T	ENSP00000308921:p.Gly324Val						p.G324V	NM_173798	NP_776159	Q6PEW1	ZCH12_HUMAN			4	1444	+			324					B3KV48|Q6PID5|Q8N1C1	Missense_Mutation	SNP	ENST00000310164.2	37	c.971G>T	CCDS14574.1	.	.	.	.	.	.	.	.	.	.	G	9.961	1.222924	0.22457	.	.	ENSG00000174460	ENST00000310164	T	0.38560	1.13	3.3	2.43	0.29744	.	.	.	.	.	T	0.56891	0.2016	M	0.79123	2.44	0.47374	D	0.999406	D	0.67145	0.996	D	0.64877	0.93	T	0.57201	-0.7852	9	0.87932	D	0	-2.9461	5.5905	0.17299	0.1546:0.0:0.8454:0.0	.	324	Q6PEW1	ZCH12_HUMAN	V	324	ENSP00000308921:G324V	ENSP00000308921:G324V	G	+	2	0	ZCCHC12	117844206	0.702000	0.27816	0.797000	0.32132	0.285000	0.27093	0.964000	0.29306	0.763000	0.33175	0.600000	0.82982	GGT		0.542	ZCCHC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058014.1	NM_173798		30	65	1	0	1.36161e-19	0.004289	2.2281e-19	30	65				
GRIA3	2892	broad.mit.edu	37	X	122561800	122561800	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chrX:122561800C>A	ENST00000371251.1	+	12	1938	c.1886C>A	c.(1885-1887)tCc>tAc	p.S629Y	GRIA3_ENST00000264357.5_Missense_Mutation_p.S629Y|GRIA3_ENST00000542149.1_Missense_Mutation_p.S629Y|GRIA3_ENST00000371256.5_Missense_Mutation_p.S629Y			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	629					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)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	AGATCACTCTCCGGGCGCATT	0.433																																							uc004etq.3		NA																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(1885-1887)TCC>TAC		glutamate receptor, ionotrophic, AMPA 3 isoform	L-Glutamic Acid(DB00142)						126.0	114.0	118.0					X																	122561800		2203	4300	6503	SO:0001583	missense	2892				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chrX:122561800C>A	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.1886C>A	X.37:g.122561800C>A	ENSP00000360297:p.Ser629Tyr					GRIA3_uc004etr.3_Missense_Mutation_p.S629Y|GRIA3_uc004ets.3_RNA	p.S629Y	NM_007325	NP_015564	P42263	GRIA3_HUMAN			13	2179	+			629			Cytoplasmic (Potential).		D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	ENST00000371251.1	37	c.1886C>A	CCDS14604.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439865	0.83885	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251	T;T;T;T	0.59638	0.25;0.25;0.25;0.25	5.36	5.36	0.76844	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	D	0.83945	0.5364	H	0.96430	3.82	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.83275	0.996;0.992	D	0.89313	0.3634	10	0.87932	D	0	.	17.2329	0.86989	0.0:1.0:0.0:0.0	.	629;629	P42263;P42263-2	GRIA3_HUMAN;.	Y	629	ENSP00000264357:S629Y;ENSP00000446146:S629Y;ENSP00000360302:S629Y;ENSP00000360297:S629Y	ENSP00000264357:S629Y	S	+	2	0	GRIA3	122389481	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.776000	0.85560	2.367000	0.80283	0.600000	0.82982	TCC		0.433	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		25	63	1	0	1.61788e-16	0.012213	2.5105e-16	25	63				
UTP14A	10813	broad.mit.edu	37	X	129040175	129040175	+	5'UTR	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chrX:129040175C>A	ENST00000394422.3	+	0	17				UTP14A_ENST00000425117.2_5'UTR|UTP14A_ENST00000371051.5_5'UTR|RP4-537K23.4_ENST00000432062.1_RNA	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)						rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						GTGAGAGAAGCTGGCTGCTGA	0.577																																							uc004euz.2		NA																	0				ovary(2)	2						c.(-13--9)AGCTG>AGATG		UTP14, U3 small nucleolar ribonucleoprotein,							98.0	93.0	95.0					X																	129040175		2203	4300	6503	SO:0001623	5_prime_UTR_variant	10813				rRNA processing	nucleolus|small-subunit processome	protein binding	g.chrX:129040175C>A	AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"""serologically defined colon cancer antigen 16"""	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.-12C>A	X.37:g.129040175C>A						UTP14A_uc011mup.1_Translation_Start_Site|UTP14A_uc011muq.1_Translation_Start_Site		NM_006649	NP_006640	Q9BVJ6	UT14A_HUMAN			1	17	+								A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Translation_Start_Site	SNP	ENST00000394422.3	37	c.-11C>A	CCDS14615.1																																																																																				0.577	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058221.1	NM_006649		28	92	1	0	3.21399e-22	0.004878	5.35666e-22	28	92				
MAGEC1	9947	broad.mit.edu	37	X	140993298	140993298	+	Silent	SNP	G	G	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chrX:140993298G>A	ENST00000285879.4	+	4	394	c.108G>A	c.(106-108)caG>caA	p.Q36Q	MAGEC1_ENST00000406005.2_5'UTR	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	36										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCTCTCCAGATTCCCCAGA	0.572										HNSCC(15;0.026)																													uc004fbt.2		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(106-108)CAG>CAA		melanoma antigen family C, 1							84.0	85.0	85.0					X																	140993298		2203	4300	6503	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140993298G>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.108G>A	X.37:g.140993298G>A		HNSCC(15;0.026)				MAGEC1_uc010nsl.1_5'UTR	p.Q36Q	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	394	+	Acute lymphoblastic leukemia(192;6.56e-05)		36					A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.108G>A	CCDS35417.1																																																																																				0.572	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		20	69	0	0	0	0.014323	0	20	69				
MAGEC1	9947	broad.mit.edu	37	X	140993708	140993708	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chrX:140993708C>A	ENST00000285879.4	+	4	804	c.518C>A	c.(517-519)tCc>tAc	p.S173Y	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	173										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GCCTCCTCCTCCACTTTAGTG	0.493										HNSCC(15;0.026)																													uc004fbt.2		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(517-519)TCC>TAC		melanoma antigen family C, 1							80.0	89.0	86.0					X																	140993708		2202	4296	6498	SO:0001583	missense	9947						protein binding	g.chrX:140993708C>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.518C>A	X.37:g.140993708C>A	ENSP00000285879:p.Ser173Tyr	HNSCC(15;0.026)				MAGEC1_uc010nsl.1_Intron	p.S173Y	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	804	+	Acute lymphoblastic leukemia(192;6.56e-05)		173					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.518C>A	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	-	1.809	-0.475156	0.04414	.	.	ENSG00000155495	ENST00000285879	T	0.02974	4.09	.	.	.	.	.	.	.	.	T	0.02012	0.0063	N	0.08118	0	0.58432	D	0.999999	P	0.50156	0.932	P	0.46208	0.507	T	0.63198	-0.6691	8	0.87932	D	0	.	5.0868	0.14687	0.0:0.6249:0.375:1.0E-4	.	173	O60732	MAGC1_HUMAN	Y	173	ENSP00000285879:S173Y	ENSP00000285879:S173Y	S	+	2	0	MAGEC1	140821374	0.007000	0.16637	0.024000	0.17045	0.024000	0.10985	0.290000	0.18975	0.054000	0.16065	0.054000	0.15206	TCC		0.493	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		21	60	1	0	1.37657e-19	0.012319	2.23227e-19	21	60				
BGN	633	broad.mit.edu	37	X	152773722	152773722	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chrX:152773722C>A	ENST00000331595.4	+	8	1112	c.926C>A	c.(925-927)tCc>tAc	p.S309Y	BGN_ENST00000480756.1_3'UTR	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan	309					blood vessel remodeling (GO:0001974)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|transport vesicle (GO:0030133)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|glycosaminoglycan binding (GO:0005539)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TATCTGCACTCCAACAACATC	0.607																																							uc004fhr.1		NA																	0				breast(2)	2						c.(925-927)TCC>TAC		biglycan preproprotein							207.0	182.0	191.0					X																	152773722		2203	4300	6503	SO:0001583	missense	633					proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent	g.chrX:152773722C>A	AK092954	CCDS14721.1	Xq28	2008-02-05			ENSG00000182492	ENSG00000182492		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	1044	protein-coding gene	gene with protein product	"""biglycan proteoglycan"""	301870				1612609	Standard	NM_001711		Approved	DSPG1, SLRR1A	uc004fhr.2	P21810	OTTHUMG00000024205	ENST00000331595.4:c.926C>A	X.37:g.152773722C>A	ENSP00000327336:p.Ser309Tyr					BGN_uc004fhq.1_RNA	p.S309Y	NM_001711	NP_001702	P21810	PGS1_HUMAN			8	1098	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		309			LRR 10.		D3DWU3|P13247	Missense_Mutation	SNP	ENST00000331595.4	37	c.926C>A	CCDS14721.1	.	.	.	.	.	.	.	.	.	.	c	10.11	1.259961	0.23051	.	.	ENSG00000182492	ENST00000331595;ENST00000370204;ENST00000430380	T;T	0.58506	0.33;0.33	4.94	4.06	0.47325	.	0.116963	0.64402	D	0.000014	T	0.44201	0.1282	N	0.20401	0.57	0.41391	D	0.987614	B	0.31227	0.314	B	0.34242	0.178	T	0.39563	-0.9608	10	0.42905	T	0.14	-25.2868	12.9042	0.58143	0.1642:0.8358:0.0:0.0	.	309	P21810	PGS1_HUMAN	Y	309;248;248	ENSP00000327336:S309Y;ENSP00000359223:S248Y	ENSP00000327336:S309Y	S	+	2	0	BGN	152426916	0.041000	0.20044	0.888000	0.34837	0.368000	0.29767	0.472000	0.22116	0.975000	0.38392	0.519000	0.50382	TCC		0.607	BGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060981.1	NM_001711		48	151	1	0	1.64573e-32	0.01441	2.84839e-32	48	151				
SLC6A8	6535	broad.mit.edu	37	X	152954185	152954185	+	Silent	SNP	C	C	G			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chrX:152954185C>G	ENST00000253122.5	+	1	632	c.156C>G	c.(154-156)cgC>cgG	p.R52R	SLC6A8_ENST00000430077.2_5'Flank	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	52					cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|creatine transmembrane transport (GO:1902598)|creatine transport (GO:0015881)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	creatine transmembrane transporter activity (GO:0005308)|creatine:sodium symporter activity (GO:0005309)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	TGCCGCCGCGCGAGACCTGGA	0.741																																							uc004fib.3		NA																	0				pancreas(1)	1						c.(154-156)CGC>CGG		solute carrier family 6 member 8 isoform 1	Creatine(DB00148)						21.0	17.0	18.0					X																	152954185		2194	4288	6482	SO:0001819	synonymous_variant	6535				creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chrX:152954185C>G		CCDS14726.1, CCDS48190.1	Xq28	2013-07-19	2013-07-19		ENSG00000130821	ENSG00000130821		"""Solute carriers"""	11055	protein-coding gene	gene with protein product	"""creatine transporter"""	300036	"""solute carrier family 6 (neurotransmitter transporter, creatine), member 8"""			7774949	Standard	NM_001142805		Approved	CRTR, CT1	uc004fib.3	P48029	OTTHUMG00000024208	ENST00000253122.5:c.156C>G	X.37:g.152954185C>G						SLC6A8_uc004fic.3_Silent_p.R52R|SLC6A8_uc011myx.1_5'Flank|PNCK_uc011myw.1_5'Flank|SLC6A8_uc010nui.1_5'Flank	p.R52R	NM_005629	NP_005620	P48029	SC6A8_HUMAN			1	434	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		52			Cytoplasmic (Potential).		B2KY47|B4DIA3|E9PFC0|Q13032|Q66I36	Silent	SNP	ENST00000253122.5	37	c.156C>G	CCDS14726.1																																																																																				0.741	SLC6A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061003.1			4	11	0	0	0	0.009096	0	4	11				
FUNDC2	65991	broad.mit.edu	37	X	154274857	154274857	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chrX:154274857C>T	ENST00000369498.3	+	3	612	c.358C>T	c.(358-360)Cag>Tag	p.Q120*	FUNDC2_ENST00000484175.1_3'UTR	NM_023934.3	NP_076423.2	Q9BWH2	FUND2_HUMAN	FUN14 domain containing 2	120						mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTTTCTCCTTCAGGTCTGTAT	0.438																																							uc004fmw.2		NA																	0					0						c.(358-360)CAG>TAG		FUN14 domain containing 2							210.0	177.0	188.0					X																	154274857		2203	4300	6503	SO:0001587	stop_gained	65991					mitochondrion		g.chrX:154274857C>T	AF267862	CCDS14763.1	Xq28	2010-03-12			ENSG00000165775	ENSG00000165775			24925	protein-coding gene	gene with protein product						12477932	Standard	NM_023934		Approved	HCBP6, DC44	uc004fmw.3	Q9BWH2	OTTHUMG00000013504	ENST00000369498.3:c.358C>T	X.37:g.154274857C>T	ENSP00000358510:p.Gln120*						p.Q120*	NM_023934	NP_076423	Q9BWH2	FUND2_HUMAN			3	508	+	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		120					B2R7W5|D3DWY5|Q8NHX8|Q9H2I6	Nonsense_Mutation	SNP	ENST00000369498.3	37	c.358C>T	CCDS14763.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.825796	0.90955	.	.	ENSG00000165775	ENST00000369498	.	.	.	4.96	4.1	0.47936	.	0.147733	0.47093	U	0.000249	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.8287	0.35072	0.0:0.8906:0.0:0.1094	.	.	.	.	X	120	.	ENSP00000358510:Q120X	Q	+	1	0	FUNDC2	153928051	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.584000	0.67490	1.183000	0.42943	0.292000	0.19580	CAG		0.438	FUNDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037641.3	NM_023934		13	90	0	0	0	0.001855	0	13	90				
INSC	387755	broad.mit.edu	37	11	15134077	15134077	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr11:15134077delG	ENST00000379554.3	+	1	108	c.62delG	c.(61-63)tggfs	p.W21fs	INSC_ENST00000379556.3_5'Flank|INSC_ENST00000424273.1_5'Flank	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	21					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						TGGGGTCTATGGGGAGTCCAG	0.597																																							uc001mly.2		NA																	0				upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)	5						c.(61-63)TGGfs		inscuteable isoform a							65.0	84.0	78.0					11																	15134077		2037	4179	6216	SO:0001589	frameshift_variant	387755				cell differentiation|nervous system development	cytoplasm	binding	g.chr11:15134077delG	AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"""inscuteable spindle orientation adaptor protein"""	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.62delG	11.37:g.15134077delG	ENSP00000368872:p.Trp21fs					INSC_uc001mlz.2_5'Flank	p.W21fs	NM_001031853	NP_001027024	Q1MX18	INSC_HUMAN			1	108	+			21					A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Frame_Shift_Del	DEL	ENST00000379554.3	37	c.62delG	CCDS41621.1																																																																																				0.597	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	NM_001031853		13	43	NA	NA	NA	NA	NA	13	43	---	---	---	---
KCNA1	3736	broad.mit.edu	37	12	5021881	5021881	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr12:5021881delC	ENST00000382545.3	+	2	2444	c.1337delC	c.(1336-1338)tccfs	p.S447fs	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	447					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	CGCCGCAGTTCCTCTACTATG	0.478																																							uc001qnh.2		NA																	0				ovary(1)|skin(1)	2						c.(1336-1338)TCCfs		potassium voltage-gated channel subfamily A	Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						201.0	197.0	198.0					12																	5021881		2203	4300	6503	SO:0001589	frameshift_variant	3736				synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	g.chr12:5021881delC	L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.1337delC	12.37:g.5021881delC	ENSP00000371985:p.Ser447fs						p.S446fs	NM_000217	NP_000208	Q09470	KCNA1_HUMAN			2	2442	+			446					A6NM83|Q3MIQ9	Frame_Shift_Del	DEL	ENST00000382545.3	37	c.1337delC	CCDS8535.1																																																																																				0.478	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	NM_000217		53	135	NA	NA	NA	NA	NA	53	135	---	---	---	---
ANKS1B	56899	broad.mit.edu	37	12	99446957	99446958	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr12:99446957_99446958insT	ENST00000547776.2	-	17	2754_2755	c.2755_2756insA	c.(2755-2757)atcfs	p.I919fs	ANKS1B_ENST00000546568.1_Frame_Shift_Ins_p.I145fs|ANKS1B_ENST00000549025.2_Frame_Shift_Ins_p.I88fs|ANKS1B_ENST00000549558.2_Frame_Shift_Ins_p.I145fs|ANKS1B_ENST00000329257.7_Frame_Shift_Ins_p.I919fs|ANKS1B_ENST00000547010.1_Frame_Shift_Ins_p.I495fs|ANKS1B_ENST00000547446.1_Frame_Shift_Ins_p.I114fs|ANKS1B_ENST00000549493.2_Frame_Shift_Ins_p.I145fs|ANKS1B_ENST00000332712.7_Frame_Shift_Ins_p.I145fs|ANKS1B_ENST00000550693.2_Frame_Shift_Ins_p.I145fs|ANKS1B_ENST00000546960.1_Frame_Shift_Ins_p.I145fs	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	919	SAM 2. {ECO:0000255|PROSITE- ProRule:PRU00184}.					cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		AACCTCCCAGATTTTTTTCAAC	0.371																																							uc001tge.1		NA																	0					0						c.(2755-2757)ATCfs		cajalin 2 isoform a																																				SO:0001589	frameshift_variant	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:99446957_99446958insT	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.2756dupA	12.37:g.99446964_99446964dupT	ENSP00000449629:p.Ile919fs					ANKS1B_uc001tgf.1_Frame_Shift_Ins_p.I495fs|ANKS1B_uc001tgk.2_Frame_Shift_Ins_p.I216fs|ANKS1B_uc001tgd.1_Frame_Shift_Ins_p.I145fs|ANKS1B_uc001tgi.2_Frame_Shift_Ins_p.I145fs|ANKS1B_uc009ztr.2_Frame_Shift_Ins_p.I145fs|ANKS1B_uc001tgj.2_Frame_Shift_Ins_p.I145fs|ANKS1B_uc001tgg.3_Frame_Shift_Ins_p.I88fs|ANKS1B_uc010svg.1_Frame_Shift_Ins_p.I114fs|ANKS1B_uc009zts.1_Frame_Shift_Ins_p.I145fs|ANKS1B_uc001tgm.1_Frame_Shift_Ins_p.I145fs	p.I919fs	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	17	3172_3173	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	919			SAM 2.		A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Frame_Shift_Ins	INS	ENST00000547776.2	37	c.2755_2756insA	CCDS55872.1																																																																																				0.371	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		9	8	NA	NA	NA	NA	NA	9	8	---	---	---	---
ARHGAP5	394	broad.mit.edu	37	14	32561858	32561858	+	Frame_Shift_Del	DEL	A	A	-	rs369766568		TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr14:32561858delA	ENST00000345122.3	+	2	2298	c.1983delA	c.(1981-1983)gtafs	p.V661fs	ARHGAP5_ENST00000539826.2_Frame_Shift_Del_p.V661fs|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000432921.1_Frame_Shift_Del_p.V661fs|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Frame_Shift_Del_p.V661fs	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	661					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		GCTTCTGTGTATTTAATTCCA	0.373																																					NSCLC(9;77 350 3443 29227 41353)	NSCLC(9;77 350 3443 29227 41353)	uc001wrl.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(1981-1983)GTAfs		Rho GTPase activating protein 5 isoform b							102.0	103.0	102.0					14																	32561858		2203	4299	6502	SO:0001589	frameshift_variant	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32561858delA	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.1983delA	14.37:g.32561858delA	ENSP00000371897:p.Val661fs					ARHGAP5_uc001wrm.2_Frame_Shift_Del_p.V661fs|ARHGAP5_uc001wrn.2_Frame_Shift_Del_p.V661fs|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	p.V661fs	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	2	2222	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		661					A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Frame_Shift_Del	DEL	ENST00000345122.3	37	c.1983delA	CCDS32062.1																																																																																				0.373	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		19	51	NA	NA	NA	NA	NA	19	51	---	---	---	---
CRK	1398	broad.mit.edu	37	17	1326904	1326904	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr17:1326904delC	ENST00000300574.2	-	3	958	c.818delG	c.(817-819)ggtfs	p.G273fs	CRK_ENST00000574295.1_Intron|CRK_ENST00000572145.1_5'UTR|RP11-818O24.3_ENST00000570924.1_RNA|RP11-818O24.3_ENST00000576825.1_RNA|CRK_ENST00000398970.5_3'UTR	NM_016823.3	NP_058431.2	P46108	CRK_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog	273	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				activation of MAPKK activity (GO:0000186)|blood coagulation (GO:0007596)|ephrin receptor signaling pathway (GO:0048013)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of signal transduction (GO:0009967)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Rho GTPase activity (GO:0032319)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|SH2 domain binding (GO:0042169)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)	9				UCEC - Uterine corpus endometrioid carcinoma (25;0.083)		TTCCCACTGACCACTCACATT	0.483																																							uc002fsl.2		NA																	0				lung(2)|central_nervous_system(1)	3						c.(817-819)GGTfs		v-crk sarcoma virus CT10 oncogene homolog							233.0	176.0	195.0					17																	1326904		2203	4300	6503	SO:0001589	frameshift_variant	1398				actin cytoskeleton organization|activation of MAPKK activity|blood coagulation|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of transcription from RNA polymerase II promoter	cytosol|endosome|nucleus|plasma membrane	protein binding|SH2 domain binding	g.chr17:1326904delC	D10656	CCDS11002.1, CCDS45561.1	17p13	2013-07-09	2013-07-09		ENSG00000167193	ENSG00000167193		"""SH2 domain containing"""	2362	protein-coding gene	gene with protein product		164762				1690891	Standard	NM_005206		Approved		uc002fsl.3	P46108	OTTHUMG00000090317	ENST00000300574.2:c.818delG	17.37:g.1326904delC	ENSP00000300574:p.Gly273fs					CRK_uc002fsm.2_3'UTR	p.G273fs	NM_016823	NP_058431	P46108	CRK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.083)	3	951	-			273			SH3 2.		A8MWE8|B0LPE8|D3DTH6|Q96GA9|Q96HJ0	Frame_Shift_Del	DEL	ENST00000300574.2	37	c.818delG	CCDS11002.1																																																																																				0.483	CRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206679.1	NM_016823		31	69	NA	NA	NA	NA	NA	31	69	---	---	---	---
RXFP1	59350	broad.mit.edu	37	4	159568146	159568146	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr4:159568146delC	ENST00000307765.5	+	16	1800	c.1549delC	c.(1549-1551)cctfs	p.P517fs	RXFP1_ENST00000470033.1_Frame_Shift_Del_p.P484fs|RXFP1_ENST00000448688.2_Frame_Shift_Del_p.P412fs|RXFP1_ENST00000460056.2_Frame_Shift_Del_p.P436fs|RXFP1_ENST00000343542.5_Frame_Shift_Del_p.P469fs	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	517					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		CATTGTCTATCCTTTTAGATG	0.358																																							uc003ipz.2		NA																	0					0						c.(1549-1551)CCTfs		relaxin/insulin-like family peptide receptor 1							126.0	115.0	119.0					4																	159568146		1858	4106	5964	SO:0001589	frameshift_variant	59350					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr4:159568146delC	AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"""GPCR / Class A : Relaxin family peptide receptors"""	19718	protein-coding gene	gene with protein product		606654	"""leucine-rich repeat-containing G protein-coupled receptor 7"""	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.1549delC	4.37:g.159568146delC	ENSP00000303248:p.Pro517fs					RXFP1_uc011cja.1_Frame_Shift_Del_p.P412fs|RXFP1_uc010iqo.2_Frame_Shift_Del_p.P469fs|RXFP1_uc011cjb.1_Frame_Shift_Del_p.P415fs|RXFP1_uc010iqk.2_Frame_Shift_Del_p.P385fs|RXFP1_uc011cjc.1_Frame_Shift_Del_p.P436fs|RXFP1_uc011cjd.1_Frame_Shift_Del_p.P436fs|RXFP1_uc010iql.2_Frame_Shift_Del_p.P361fs|RXFP1_uc011cje.1_Frame_Shift_Del_p.P544fs|RXFP1_uc010iqm.2_Frame_Shift_Del_p.P484fs|RXFP1_uc011cjf.1_Frame_Shift_Del_p.P386fs|RXFP1_uc010iqn.2_Frame_Shift_Del_p.P462fs	p.P517fs	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN		COAD - Colon adenocarcinoma(41;0.0219)	16	1631	+	all_hematologic(180;0.24)	Renal(120;0.0854)	517			Cytoplasmic (Potential).		B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Frame_Shift_Del	DEL	ENST00000307765.5	37	c.1549delC	CCDS43276.1																																																																																				0.358	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314865.1	NM_021634		15	32	NA	NA	NA	NA	NA	15	32	---	---	---	---
DCBLD1	285761	broad.mit.edu	37	6	117866753	117866754	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr6:117866753_117866754insA	ENST00000338728.5	+	14	1728_1729	c.1608_1609insA	c.(1609-1611)atgfs	p.M537fs	DCBLD1_ENST00000296955.8_Frame_Shift_Ins_p.M537fs|DCBLD1_ENST00000368503.4_Frame_Shift_Ins_p.M338fs|GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000534777.1_3'UTR			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	537					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		TCACAAGTGATATGGCAGGTAA	0.411																																							uc003pxs.2		NA																	0				ovary(1)	1						c.(1606-1611)GATATGfs		discoidin, CUB and LCCL domain containing 1																																				SO:0001589	frameshift_variant	285761				cell adhesion	integral to membrane		g.chr6:117866753_117866754insA	AK055462	CCDS34522.1	6q22.31	2003-06-20			ENSG00000164465	ENSG00000164465			21479	protein-coding gene	gene with protein product							Standard	NM_173674		Approved	MGC46341, dJ94G16.1	uc003pxs.3	Q8N8Z6	OTTHUMG00000015455	ENST00000338728.5:c.1609dupA	6.37:g.117866754_117866754dupA	ENSP00000342422:p.Met537fs					GOPC_uc003pxq.1_Intron|DCBLD1_uc003pxr.1_3'UTR|DCBLD1_uc003pxt.1_Frame_Shift_Ins_p.D191fs	p.D536fs	NM_173674	NP_775945	Q8N8Z6	DCBD1_HUMAN		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)	14	1733_1734	+		all_cancers(87;0.171)	536_537			Cytoplasmic (Potential).		Q5H992|Q8IYK5|Q8N7L9|Q96NH2	Frame_Shift_Ins	INS	ENST00000338728.5	37	c.1608_1609insA																																																																																					0.411	DCBLD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000041979.2	NM_173674		7	70	NA	NA	NA	NA	NA	7	70	---	---	---	---
ARID1B	57492	broad.mit.edu	37	6	157469810	157469811	+	Frame_Shift_Ins	INS	-	-	G	rs145635490	byFrequency	TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr6:157469810_157469811insG	ENST00000350026.5	+	8	2566_2567	c.2565_2566insG	c.(2566-2568)ggcfs	p.G856fs	ARID1B_ENST00000275248.4_Frame_Shift_Ins_p.G798fs|ARID1B_ENST00000367148.1_Frame_Shift_Ins_p.G856fs|ARID1B_ENST00000346085.5_Frame_Shift_Ins_p.G869fs	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	856					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CAAGCTACAGCGGCCCAGGGCC	0.53																																							uc003qqn.2		NA																	0				ovary(1)|breast(1)	2						c.(2389-2394)AGCGGCfs		AT rich interactive domain 1B (SWI1-like)																																				SO:0001589	frameshift_variant	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157469810_157469811insG	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.2567dupG	6.37:g.157469812_157469812dupG	ENSP00000055163:p.Gly856fs					ARID1B_uc003qqo.2_Frame_Shift_Ins_p.S810fs|ARID1B_uc003qqp.2_Frame_Shift_Ins_p.S797fs|ARID1B_uc003qqq.1_Frame_Shift_Ins_p.S239fs|ARID1B_uc010kjl.2_5'UTR	p.S797fs	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	8	2543_2544	+		Breast(66;0.000162)|Ovarian(120;0.0265)	855_856					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Frame_Shift_Ins	INS	ENST00000350026.5	37	c.2391_2392insG	CCDS5251.2																																																																																				0.530	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		21	44	NA	NA	NA	NA	NA	21	44	---	---	---	---
SSMEM1	136263	broad.mit.edu	37	7	129856175	129856176	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr7:129856175_129856176insT	ENST00000297819.3	+	3	651_652	c.600_601insT	c.(601-603)tgcfs	p.C201fs		NM_145268.3	NP_660311.1	Q8WWF3	SSMM1_HUMAN	serine-rich single-pass membrane protein 1	201						integral component of membrane (GO:0016021)											ACTGCCTCCACTGCAAAGCCTT	0.485																																							uc003vpp.2		NA																	0					0						c.(598-603)CACTGCfs		hypothetical protein LOC136263																																				SO:0001589	frameshift_variant	136263					integral to membrane		g.chr7:129856175_129856176insT	AK097635	CCDS5816.1	7q32.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000165120	ENSG00000165120			29580	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 45"""	C7orf45		12477932	Standard	NM_145268		Approved	FLJ40316	uc003vpp.3	Q8WWF3	OTTHUMG00000157844	ENST00000297819.3:c.601dupT	7.37:g.129856176_129856176dupT	ENSP00000297819:p.Cys201fs						p.H200fs	NM_145268	NP_660311	Q8WWF3	CG045_HUMAN			3	647_648	+	Melanoma(18;0.0435)		200_201						Frame_Shift_Ins	INS	ENST00000297819.3	37	c.600_601insT	CCDS5816.1																																																																																				0.485	SSMEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349768.1	NM_145268		23	78	NA	NA	NA	NA	NA	23	78	---	---	---	---
FAM47B	170062	broad.mit.edu	37	X	34962676	34962676	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chrX:34962676delG	ENST00000329357.5	+	1	1764	c.1728delG	c.(1726-1728)aagfs	p.K576fs		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	576										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TACTTGAAAAGCCTGATGAAC	0.458																																							uc004ddi.1		NA																	0				ovary(3)|breast(1)	4						c.(1726-1728)AAGfs		hypothetical protein LOC170062							127.0	121.0	123.0					X																	34962676		2202	4300	6502	SO:0001589	frameshift_variant	170062							g.chrX:34962676delG	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.1728delG	X.37:g.34962676delG	ENSP00000328307:p.Lys576fs						p.K576fs	NM_152631	NP_689844	Q8NA70	FA47B_HUMAN			1	1746	+			576					Q5JQN5|Q6PIG3	Frame_Shift_Del	DEL	ENST00000329357.5	37	c.1728delG	CCDS14236.1																																																																																				0.458	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		31	92	NA	NA	NA	NA	NA	31	92	---	---	---	---
OGT	8473	broad.mit.edu	37	X	70779527	70779527	+	Splice_Site	DEL	G	G	-			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chrX:70779527delG	ENST00000373719.3	+	14	2068	c.1851delG	c.(1849-1851)cag>ca	p.Q617fs	OGT_ENST00000373701.3_Splice_Site_p.Q607fs	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	617					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					ATCTTTCTCAGGTAGATGAAA	0.358																																							uc004eaa.1		NA																	0				ovary(3)|kidney(1)|pancreas(1)	5						c.(1849-1851)CAGfs		O-linked GlcNAc transferase isoform 1							67.0	50.0	56.0					X																	70779527		2203	4300	6503	SO:0001630	splice_region_variant	8473				cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	g.chrX:70779527delG	U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"""Tetratricopeptide (TTC) repeat domain containing"""	8127	protein-coding gene	gene with protein product	"""UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"""	300255	"""O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"""			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.1851+1G>-	X.37:g.70779527delG						BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.1_Frame_Shift_Del_p.Q607fs|OGT_uc004eac.2_Frame_Shift_Del_p.Q478fs|OGT_uc004ead.2_Frame_Shift_Del_p.Q236fs	p.Q617fs	NM_181672	NP_858058	O15294	OGT1_HUMAN			14	2068	+	Renal(35;0.156)		617					Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Frame_Shift_Del	DEL	ENST00000373719.3	37	c.1851delG	CCDS14414.1																																																																																				0.358	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3	NM_003605, NM_181672	Frame_Shift_Del	8	23	NA	NA	NA	NA	NA	8	23	---	---	---	---
