#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
KRTAP4-6	81871	broad.mit.edu	37	17	39296282	39296282	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr17:39296282G>T	ENST00000345847.4	-	1	457	c.458C>A	c.(457-459)tCt>tAt	p.S153Y		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	153	30 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						ttcacagcaagaggggcggca	0.662																																						ENST00000345847.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						c.(457-459)tCt>tAt		keratin associated protein 4-6																																				SO:0001583	missense	81871					keratin filament		g.chr17:39296282G>T	AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.458C>A	17.37:g.39296282G>T	ENSP00000328270:p.Ser153Tyr						p.S153Y	NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN			1	457	-			149			29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].		Q9BYR1	Missense_Mutation	SNP	ENST00000345847.4	37	c.458C>A	CCDS54125.1	.	.	.	.	.	.	.	.	.	.	.	10.39	1.337834	0.24253	.	.	ENSG00000198090	ENST00000345847	T	0.01838	4.61	3.93	-1.16	0.09678	.	.	.	.	.	T	0.05181	0.0138	M	0.83012	2.62	0.09310	N	1	.	.	.	.	.	.	T	0.30297	-0.9983	7	0.27785	T	0.31	.	4.1853	0.10395	0.0937:0.4543:0.2973:0.1547	.	.	.	.	Y	153	ENSP00000328270:S153Y	ENSP00000328270:S153Y	S	-	2	0	KRTAP4-6	36549808	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.680000	0.01939	-0.014000	0.14175	-1.066000	0.02275	TCT		0.662	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257779.1			3	24	1	0	0.115264	1	0.116934	3	24				
HIST1H3G	8355	broad.mit.edu	37	6	26271485	26271485	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr6:26271485C>A	ENST00000305910.3	-	1	127	c.128G>T	c.(127-129)cGt>cTt	p.R43L	HIST1H2BI_ENST00000377733.2_5'Flank	NM_003534.2	NP_003525.1	P68431	H31_HUMAN	histone cluster 1, H3g	43					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						GGTGCCGGGACGGTAGCGATG	0.637																																						ENST00000305910.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(127-129)cGt>cTt		histone cluster 1, H3g							50.0	54.0	52.0					6																	26271485		2203	4300	6503	SO:0001583	missense	8355				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26271485C>A	Z80785	CCDS4602.1	6p22.1	2011-07-22	2006-10-11	2003-03-14	ENSG00000256018			"""Histones / Replication-dependent"""	4772	protein-coding gene	gene with protein product		602815	"""H3 histone family, member H"", ""histone 1, H3g"""	H3FH		9119399, 12408966	Standard	NM_003534		Approved	H3/h	uc003nhi.3	P68431	OTTHUMG00000014436	ENST00000305910.3:c.128G>T	6.37:g.26271485C>A	ENSP00000439660:p.Arg43Leu						p.R43L	NM_003534.2	NP_003525.1	P68431	H31_HUMAN			1	127	-			43					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000305910.3	37	c.128G>T	CCDS4602.1	.	.	.	.	.	.	.	.	.	.	.	10.71	1.427658	0.25726	.	.	ENSG00000256018	ENST00000305910	T	0.48522	0.81	4.56	3.7	0.42460	.	.	.	.	.	T	0.39462	0.1079	.	.	.	0.28908	N	0.892857	.	.	.	.	.	.	T	0.32052	-0.9921	6	0.87932	D	0	.	11.9332	0.52857	0.0:0.915:0.0:0.085	.	.	.	.	L	43	ENSP00000439660:R43L	ENSP00000439660:R43L	R	-	2	0	HIST1H3G	26379464	1.000000	0.71417	0.982000	0.44146	0.086000	0.17979	7.557000	0.82243	1.064000	0.40671	0.563000	0.77884	CGT		0.637	HIST1H3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040099.2	NM_003534		6	106	1	0	0.0215528	1	0.0221867	6	106				
LRP1B	53353	broad.mit.edu	37	2	141607757	141607757	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr2:141607757T>A	ENST00000389484.3	-	29	5824	c.4853A>T	c.(4852-4854)gAa>gTa	p.E1618V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1618					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTATAAACGTTCCTCAGATGC	0.363										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(4852-4854)gAa>gTa		low density lipoprotein receptor-related protein 1B							191.0	189.0	190.0					2																	141607757		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141607757T>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.4853A>T	2.37:g.141607757T>A	ENSP00000374135:p.Glu1618Val	TSP Lung(27;0.18)					p.E1618V	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	29	5824	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1618					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.4853A>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.675140	0.88445	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;T	0.91521	-2.86;1.49	5.32	5.32	0.75619	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	U	0.000001	D	0.93006	0.7774	M	0.68952	2.095	0.47183	D	0.99934	D;D	0.58970	0.97;0.984	P;P	0.57009	0.811;0.773	D	0.92250	0.5808	10	0.35671	T	0.21	.	15.2862	0.73831	0.0:0.0:0.0:1.0	.	801;1618	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	V	1618;1556;763	ENSP00000374135:E1618V;ENSP00000413239:E763V	ENSP00000374135:E1618V	E	-	2	0	LRP1B	141324227	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.992000	0.88273	2.029000	0.59856	0.260000	0.18958	GAA		0.363	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		7	65	0	0	0	1	0	7	65				
CDC20B	166979	broad.mit.edu	37	5	54420671	54420671	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr5:54420671C>T	ENST00000381375.2	-	9	1320	c.1175G>A	c.(1174-1176)gGc>gAc	p.G392D	CDC20B_ENST00000334206.5_3'UTR|CDC20B_ENST00000296733.1_Missense_Mutation_p.G392D|CDC20B_ENST00000322374.6_Missense_Mutation_p.G392D			Q86Y33	CD20B_HUMAN	cell division cycle 20B	392										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			CAGCGGTTGGCCCTGTGCACT	0.537																																						ENST00000296733.1																			0				kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19						c.(1174-1176)gGc>gAc		cell division cycle 20B							90.0	81.0	84.0					5																	54420671		2203	4300	6503	SO:0001583	missense	166979							g.chr5:54420671C>T	AB086378	CCDS3966.1, CCDS47207.1, CCDS54852.1	5q11.2	2013-01-17	2013-01-17		ENSG00000164287	ENSG00000164287		"""WD repeat domain containing"""	24222	protein-coding gene	gene with protein product			"""CDC20 cell division cycle 20 homolog B (S. cerevisiae)"", ""cell division cycle 20 homolog B (S. cerevisiae)"""				Standard	NM_152623		Approved	FLJ37927	uc003jpo.2	Q86Y33	OTTHUMG00000131185	ENST00000381375.2:c.1175G>A	5.37:g.54420671C>T	ENSP00000370781:p.Gly392Asp					CDC20B_ENST00000334206.5_3'UTR|CDC20B_ENST00000381375.2_Missense_Mutation_p.G392D|CDC20B_ENST00000322374.6_Missense_Mutation_p.G392D	p.G392D	NM_001170402.1|NM_152623.2	NP_001163873.1|NP_689836.2	Q86Y33	CD20B_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.225)		9	1349	-		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	392					B7WNV8|B9EGL8|C9J6X8|C9JHE9|C9JKL5|Q86Y31|Q86Y32|Q8IUZ8|Q8N1S1|Q8NG56	Missense_Mutation	SNP	ENST00000381375.2	37	c.1175G>A	CCDS54852.1	.	.	.	.	.	.	.	.	.	.	C	6.657	0.489722	0.12702	.	.	ENSG00000164287	ENST00000296733;ENST00000381375;ENST00000322374	T;T;T	0.37058	1.22;1.22;1.22	4.66	-1.98	0.07480	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.949899	0.08655	N	0.913306	T	0.24774	0.0601	L	0.31664	0.95	0.09310	N	1	B;B;P	0.45474	0.435;0.309;0.859	B;B;P	0.45712	0.277;0.143;0.491	T	0.17048	-1.0382	10	0.12430	T	0.62	-25.6373	5.61	0.17400	0.3026:0.1989:0.4318:0.0667	.	392;392;392	Q86Y33-3;Q86Y33;Q86Y33-2	.;CD20B_HUMAN;.	D	392	ENSP00000296733:G392D;ENSP00000370781:G392D;ENSP00000315720:G392D	ENSP00000296733:G392D	G	-	2	0	CDC20B	54456428	0.000000	0.05858	0.000000	0.03702	0.076000	0.17211	0.043000	0.13971	-0.715000	0.04968	0.650000	0.86243	GGC		0.537	CDC20B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369715.1	NM_152623		4	84	0	0	0	1	0	4	84				
POLQ	10721	broad.mit.edu	37	3	121206355	121206355	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr3:121206355A>G	ENST00000264233.5	-	16	5551	c.5423T>C	c.(5422-5424)tTa>tCa	p.L1808S		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1808					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		ATCCTGTGATAACTGAAGTGA	0.388								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	ENST00000264233.5																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(5422-5424)tTa>tCa	DNA polymerases (catalytic subunits)	polymerase (DNA directed), theta							137.0	133.0	134.0					3																	121206355		2203	4300	6503	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121206355A>G	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.5423T>C	3.37:g.121206355A>G	ENSP00000264233:p.Leu1808Ser						p.L1808S	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	16	5551	-			1808					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.5423T>C	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	A	10.60	1.395915	0.25205	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.54866	0.55	5.67	3.34	0.38264	.	0.664927	0.14238	N	0.332294	T	0.49762	0.1576	L	0.56769	1.78	0.09310	N	0.999998	B;B	0.31548	0.221;0.328	B;B	0.34180	0.07;0.177	T	0.49447	-0.8939	10	0.87932	D	0	.	9.5253	0.39160	0.8584:0.0:0.1416:0.0	.	1808;980	O75417;O75417-2	DPOLQ_HUMAN;.	S	1431;1808;1944	ENSP00000264233:L1808S	ENSP00000264233:L1808S	L	-	2	0	POLQ	122689045	0.952000	0.32445	0.336000	0.25522	0.690000	0.40134	4.534000	0.60622	0.989000	0.38761	-0.376000	0.06991	TTA		0.388	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		8	106	0	0	0	1	0	8	106				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687																																						ENST00000432432.2																			1	Substitution - coding silent(1)	p.K44K(1)	prostate(1)																																																0							g.chr2:95522786T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522786T>C								NR_040113.1						0	241	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.687	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			4	76	0	0	0	1	0	4	76				
COL6A3	1293	broad.mit.edu	37	2	238274427	238274427	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr2:238274427G>A	ENST00000295550.4	-	12	6204	c.5752C>T	c.(5752-5754)Cgc>Tgc	p.R1918C	COL6A3_ENST00000346358.4_Missense_Mutation_p.R1718C|COL6A3_ENST00000409809.1_Missense_Mutation_p.R1712C|COL6A3_ENST00000353578.4_Missense_Mutation_p.R1712C|COL6A3_ENST00000472056.1_Missense_Mutation_p.R1311C|COL6A3_ENST00000347401.3_Missense_Mutation_p.R1717C	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1918	Nonhelical region.|VWFA 10. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TGCTGGCTGCGCATGTTCCGG	0.617																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(5752-5754)Cgc>Tgc		collagen, type VI, alpha 3							82.0	77.0	79.0					2																	238274427		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238274427G>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.5752C>T	2.37:g.238274427G>A	ENSP00000295550:p.Arg1918Cys					COL6A3_ENST00000472056.1_Missense_Mutation_p.R1311C|COL6A3_ENST00000409809.1_Missense_Mutation_p.R1712C|COL6A3_ENST00000353578.4_Missense_Mutation_p.R1712C|COL6A3_ENST00000347401.3_Missense_Mutation_p.R1717C|COL6A3_ENST00000346358.4_Missense_Mutation_p.R1718C	p.R1918C	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	12	6204	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1918			Nonhelical region.|VWFA 10.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.5752C>T	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.715185	0.30413	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09;1.09	5.34	4.41	0.53225	von Willebrand factor, type A (2);	0.334836	0.21508	N	0.073409	T	0.57080	0.2029	L	0.57536	1.79	0.53688	D	0.999971	D;D;D	0.89917	0.999;1.0;0.999	P;D;P	0.70016	0.893;0.967;0.642	T	0.57820	-0.7745	10	0.72032	D	0.01	.	10.7977	0.46470	0.0:0.1183:0.6653:0.2164	.	1311;1712;1918	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	C	1918;1717;1712;1311;1712;1718	ENSP00000295550:R1918C;ENSP00000315609:R1717C;ENSP00000315873:R1712C;ENSP00000418285:R1311C;ENSP00000386844:R1712C;ENSP00000295546:R1718C	ENSP00000295550:R1918C	R	-	1	0	COL6A3	237939166	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	1.091000	0.30915	2.665000	0.90641	0.655000	0.94253	CGC		0.617	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		6	112	0	0	0	1	0	6	112				
HIPK3	10114	broad.mit.edu	37	11	33308014	33308014	+	Silent	SNP	T	T	C			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr11:33308014T>C	ENST00000303296.4	+	2	359	c.54T>C	c.(52-54)agT>agC	p.S18S	HIPK3_ENST00000379016.3_Silent_p.S18S|HIPK3_ENST00000525975.1_Silent_p.S18S|HIPK3_ENST00000456517.1_Silent_p.S18S	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	18					apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						CTCAGTCAAGTGCCTTTTGTA	0.373																																						ENST00000303296.4																			0				endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						c.(52-54)agT>agC		homeodomain interacting protein kinase 3							62.0	58.0	59.0					11																	33308014		2202	4298	6500	SO:0001819	synonymous_variant	10114				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:33308014T>C	AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"""homeodomain-interacting protein kinase 3"""			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.54T>C	11.37:g.33308014T>C						HIPK3_ENST00000525975.1_Silent_p.S18S|HIPK3_ENST00000379016.3_Silent_p.S18S|HIPK3_ENST00000456517.1_Silent_p.S18S	p.S18S	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN			2	359	+			18					O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Silent	SNP	ENST00000303296.4	37	c.54T>C	CCDS7884.1																																																																																				0.373	HIPK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255358.1	NM_005734		3	36	0	0	0	1	0	3	36				
ZNF883	169834	broad.mit.edu	37	9	115759947	115759947	+	lincRNA	SNP	C	C	T	rs376605473		TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr9:115759947C>T	ENST00000427548.1	-	0	1866							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TCTCTGATGTCGGATTAGTGA	0.408													C|||	1	0.000199681	0.0	0.0	5008	,	,		20354	0.0		0.0	False		,,,				2504	0.001					ENST00000427548.1																			0													zinc finger protein 883		C	GLN/ARG	0,4376		0,0,2188	67.0	69.0	68.0		593	0.4	0.0	9		68	1,8587	1.2+/-3.3	0,1,4293	no	missense	ZNF883	NM_001101338.1	43	0,1,6481	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	198/380	115759947	1,12963	2188	4294	6482			169834				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:115759947C>T	AK095843		9q32	2010-07-23			ENSG00000228623	ENSG00000228623		"""Zinc fingers, C2H2-type"""	27271	protein-coding gene	gene with protein product							Standard	NM_001101338		Approved		uc011lwy.2	P0CG24	OTTHUMG00000020514		9.37:g.115759947C>T										P0CG24	ZN883_HUMAN			0	1866	-									RNA	SNP	ENST00000427548.1	37																																																																																						0.408	ZNF883-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000053704.1	NM_001101338		19	49	0	0	0	1	0	19	49				
RP11-478B9.1	0	broad.mit.edu	37	12	45458702	45458702	+	RNA	SNP	G	G	T			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr12:45458702G>T	ENST00000548424.1	+	0	448																											CAGATTCATCGCTAATTTAAA	0.438																																						ENST00000548424.1																			0																																																			0							g.chr12:45458702G>T																													12.37:g.45458702G>T														0	448	+									RNA	SNP	ENST00000548424.1	37																																																																																						0.438	RP11-478B9.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000404811.1			11	23	1	0	4.68919e-08	1	5.1288e-08	11	23				
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs571530750	byFrequency	TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr6:26422353C>T	ENST00000466808.2	+	0	7							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622													C|||	7	0.00139776	0.0023	0.0	5008	,	,		16376	0.001		0.0	False		,,,				2504	0.0031					ENST00000466808.2																			2	Substitution - Missense(2)	p.P3S(2)	endometrium(1)|kidney(1)																																																0							g.chr6:26422353C>T	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422353C>T														0	7	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.622	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		5	178	0	0	0	1	0	5	178				
GRIN2B	2904	broad.mit.edu	37	12	13724865	13724865	+	Missense_Mutation	SNP	G	G	A	rs387906636		TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr12:13724865G>A	ENST00000609686.1	-	10	2253	c.2044C>T	c.(2044-2046)Cgc>Tgc	p.R682C		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	682			R -> C (in MRD6; analysis of agonist dose-response curves reveal no differences in the affinities of wild- type and mutant receptors for glutamate and glycine). {ECO:0000269|PubMed:20890276}.		behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GTCCCAAAGCGGAAAGGGGGT	0.488																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(2044-2046)Cgc>Tgc		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						101.0	83.0	89.0					12																	13724865		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13724865G>A		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.2044C>T	12.37:g.13724865G>A	ENSP00000477455:p.Arg682Cys						p.R682C	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			10	2253	-			682					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.2044C>T	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	G	34	5.385529	0.95967	.	.	ENSG00000150086	ENST00000279593	T	0.31769	1.48	5.73	5.73	0.89815	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.61590	0.2359	M	0.79693	2.465	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63747	-0.6567	10	0.87932	D	0	.	20.2602	0.98440	0.0:0.0:1.0:0.0	.	682	Q13224	NMDE2_HUMAN	C	682	ENSP00000279593:R682C	ENSP00000279593:R682C	R	-	1	0	GRIN2B	13616132	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.807000	0.99171	2.861000	0.98227	0.655000	0.94253	CGC		0.488	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			4	36	0	0	0	1	0	4	36				
FAM198B	51313	broad.mit.edu	37	4	159092350	159092350	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr4:159092350G>A	ENST00000296530.8	-	2	799	c.178C>T	c.(178-180)Ctc>Ttc	p.L60F	FAM198B_ENST00000585682.1_Missense_Mutation_p.L60F|RP11-597D13.9_ENST00000503611.1_RNA|FAM198B_ENST00000393807.5_Missense_Mutation_p.L60F|RP11-597D13.9_ENST00000514381.1_RNA|FAM198B_ENST00000589306.1_Intron|RP11-597D13.9_ENST00000505532.1_RNA|FAM198B_ENST00000592057.1_Missense_Mutation_p.L60F|RP11-597D13.9_ENST00000509463.1_RNA	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	60						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						CCATGCTGGAGAGAGGCCCTC	0.662																																						ENST00000296530.8																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						c.(178-180)Ctc>Ttc		family with sequence similarity 198, member B							39.0	41.0	40.0					4																	159092350		2203	4300	6503	SO:0001583	missense	51313					Golgi membrane|integral to membrane		g.chr4:159092350G>A		CCDS3798.1, CCDS34087.1	4q32.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000164125	ENSG00000164125			25312	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 18"""	C4orf18		12975309	Standard	NM_001031700		Approved	FLJ38155, DKFZp434L142	uc003ipr.4	Q6UWH4	OTTHUMG00000161537	ENST00000296530.8:c.178C>T	4.37:g.159092350G>A	ENSP00000296530:p.Leu60Phe					FAM198B_ENST00000592057.1_Missense_Mutation_p.L60F|RP11-597D13.9_ENST00000503611.1_RNA|FAM198B_ENST00000585682.1_Missense_Mutation_p.L60F|FAM198B_ENST00000393807.5_Missense_Mutation_p.L60F|FAM198B_ENST00000589306.1_Intron	p.L60F	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN			2	799	-			60					Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	Missense_Mutation	SNP	ENST00000296530.8	37	c.178C>T	CCDS3798.1	.	.	.	.	.	.	.	.	.	.	G	8.535	0.871810	0.17322	.	.	ENSG00000164125	ENST00000337222;ENST00000296530;ENST00000393807;ENST00000417442	T;T	0.31769	1.49;1.48	5.21	-0.858	0.10689	.	1.083460	0.06974	N	0.818543	T	0.16642	0.0400	N	0.16478	0.41	0.09310	N	1	B;B;B	0.14438	0.01;0.003;0.003	B;B;B	0.14023	0.01;0.005;0.003	T	0.28106	-1.0054	10	0.28530	T	0.3	-19.2623	4.6591	0.12634	0.0674:0.3483:0.2619:0.3224	.	60;60;60	Q6UWH4-3;Q6UWH4-2;Q6UWH4	.;.;F198B_HUMAN	F	60	ENSP00000296530:L60F;ENSP00000377396:L60F	ENSP00000296530:L60F	L	-	1	0	FAM198B	159311800	0.905000	0.30787	0.001000	0.08648	0.831000	0.47069	1.193000	0.32162	-0.435000	0.07264	-0.868000	0.02995	CTC		0.662	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365230.1	NM_001031700, NM_016613		6	101	0	0	0	1	0	6	101				
RAB13	5872	broad.mit.edu	37	1	153958656	153958656	+	Silent	SNP	C	C	T			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr1:153958656C>T	ENST00000368575.3	-	1	172	c.57G>A	c.(55-57)gtG>gtA	p.V19V	RAB13_ENST00000462680.1_5'UTR	NM_002870.2	NP_002861.1	P51153	RAB13_HUMAN	RAB13, member RAS oncogene family	19					cellular response to insulin stimulus (GO:0032869)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endosomal transport (GO:0016197)|endothelial cell chemotaxis (GO:0035767)|establishment of protein localization to plasma membrane (GO:0090002)|establishment of Sertoli cell barrier (GO:0097368)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|protein kinase A signaling (GO:0010737)|protein localization to cell leading edge (GO:1902463)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)|trans-Golgi network to recycling endosome transport (GO:0044795)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|insulin-responsive compartment (GO:0032593)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|tight junction (GO:0005923)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(3)|kidney(1)|lung(5)|urinary_tract(1)	11	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AAGTCTTGCCCACCCCCGAGT	0.627																																					Ovarian(138;395 2427 24306 43415)	ENST00000368575.3																			0				breast(1)|endometrium(3)|kidney(1)|lung(5)|urinary_tract(1)	11						c.(55-57)gtG>gtA		RAB13, member RAS oncogene family							65.0	57.0	60.0					1																	153958656		2203	4296	6499	SO:0001819	synonymous_variant	5872				cell adhesion|protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	cytoplasmic vesicle membrane|tight junction	GTP binding|GTPase activity	g.chr1:153958656C>T	X75593	CCDS1058.1, CCDS72921.1	1q21.2	2008-02-05			ENSG00000143545	ENSG00000143545		"""RAB, member RAS oncogene"""	9762	protein-coding gene	gene with protein product		602672				8294494	Standard	NM_002870		Approved		uc001fdt.2	P51153	OTTHUMG00000036589	ENST00000368575.3:c.57G>A	1.37:g.153958656C>T						RAB13_ENST00000462680.1_5'UTR	p.V19V	NM_002870.2	NP_002861.1	P51153	RAB13_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		1	172	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		19					A8K6B5|D3DV67|Q5U0A6|Q6GPG6|Q96GU4	Silent	SNP	ENST00000368575.3	37	c.57G>A	CCDS1058.1																																																																																				0.627	RAB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088992.1	NM_002870		8	26	0	0	0	1	0	8	26				
HMCN1	83872	broad.mit.edu	37	1	185939492	185939492	+	Silent	SNP	A	A	T			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr1:185939492A>T	ENST00000271588.4	+	15	2467	c.2238A>T	c.(2236-2238)acA>acT	p.T746T	HMCN1_ENST00000367492.2_Silent_p.T746T|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	746	Ig-like C2-type 4.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGCCCTCAACATTCCTCATTA	0.383																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(2236-2238)acA>acT		hemicentin 1							154.0	168.0	163.0					1																	185939492		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185939492A>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.2238A>T	1.37:g.185939492A>T						HMCN1_ENST00000367492.2_Silent_p.T746T|HMCN1_ENST00000485744.1_3'UTR	p.T746T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			15	2467	+			746			Ig-like C2-type 4.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.2238A>T	CCDS30956.1																																																																																				0.383	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		7	177	0	0	0	1	0	7	177				
MPEG1	219972	broad.mit.edu	37	11	58979777	58979777	+	Silent	SNP	T	T	G			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr11:58979777T>G	ENST00000361050.3	-	1	647	c.562A>C	c.(562-564)Agg>Cgg	p.R188R	RN7SL42P_ENST00000579786.1_RNA	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	188	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.					integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				GTGGCCATCCTCGTCTGGTTG	0.527																																						ENST00000361050.3																			0				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(562-564)Agg>Cgg		macrophage expressed 1							118.0	110.0	113.0					11																	58979777		1982	4153	6135	SO:0001819	synonymous_variant	219972					integral to membrane		g.chr11:58979777T>G	AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"""macrophage expressed gene 1"""	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.562A>C	11.37:g.58979777T>G							p.R188R	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN			1	647	-		all_epithelial(135;0.125)	188			MACPF.		Q2M1T6|Q8TEF8	Silent	SNP	ENST00000361050.3	37	c.562A>C	CCDS41650.1																																																																																				0.527	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	NM_001039396		8	105	0	0	0	1	0	8	105				
ITGB8	3696	broad.mit.edu	37	7	20444317	20444317	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr7:20444317G>A	ENST00000222573.4	+	11	2438	c.1754G>A	c.(1753-1755)tGc>tAc	p.C585Y	ITGB8_ENST00000537992.1_Missense_Mutation_p.C450Y	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	585	Cysteine-rich tandem repeats.				cartilage development (GO:0051216)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|ganglioside metabolic process (GO:0001573)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of gene expression (GO:0010629)|placenta blood vessel development (GO:0060674)|positive regulation of gene expression (GO:0010628)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	extracellular matrix protein binding (GO:1990430)|receptor activity (GO:0004872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						CGATGCCAGTGCCCTTCAGCA	0.562																																						ENST00000222573.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(1753-1755)tGc>tAc		integrin, beta 8							144.0	111.0	122.0					7																	20444317		2203	4300	6503	SO:0001583	missense	3696				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity	g.chr7:20444317G>A		CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855		"""Integrins"""	6163	protein-coding gene	gene with protein product		604160					Standard	XM_005249751		Approved		uc003suu.3	P26012	OTTHUMG00000023594	ENST00000222573.4:c.1754G>A	7.37:g.20444317G>A	ENSP00000222573:p.Cys585Tyr					ITGB8_ENST00000537992.1_Missense_Mutation_p.C450Y	p.C585Y	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN			11	2438	+			585			Cysteine-rich tandem repeats.		A4D133|B4DHD4	Missense_Mutation	SNP	ENST00000222573.4	37	c.1754G>A	CCDS5370.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.854942	0.91355	.	.	ENSG00000105855	ENST00000537992;ENST00000222573	D;D	0.96587	-4.06;-4.06	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.98507	0.9502	M	0.88570	2.965	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98883	1.0770	10	0.87932	D	0	.	20.3472	0.98799	0.0:0.0:1.0:0.0	.	585	P26012	ITB8_HUMAN	Y	450;585	ENSP00000441561:C450Y;ENSP00000222573:C585Y	ENSP00000222573:C585Y	C	+	2	0	ITGB8	20410842	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.020000	0.93667	2.890000	0.99128	0.650000	0.86243	TGC		0.562	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3	NM_002214		5	47	0	0	0	1	0	5	47				
CNPY2	10330	broad.mit.edu	37	12	56711419	56711419	+	5'Flank	SNP	C	C	T			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr12:56711419C>T	ENST00000273308.4	-	0	0				PAN2_ENST00000548043.1_Missense_Mutation_p.V1195I|RP11-977G19.10_ENST00000549318.1_5'Flank|PAN2_ENST00000257931.5_Missense_Mutation_p.V1194I|PAN2_ENST00000425394.2_Missense_Mutation_p.V1195I|PAN2_ENST00000440411.3_Missense_Mutation_p.V1191I|PAN2_ENST00000549090.1_5'UTR|RP11-977G19.11_ENST00000549565.1_RNA|RP11-977G19.11_ENST00000549860.1_RNA|CNPY2_ENST00000551720.1_5'Flank	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2						negative regulation of gene expression (GO:0010629)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of low-density lipoprotein particle clearance (GO:0010988)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)				large_intestine(2)|lung(2)	4						GAGGAGAAGACAGCTGCATCT	0.463																																						ENST00000425394.2																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(3583-3585)Gtc>Atc		PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)							92.0	86.0	88.0					12																	56711419		2203	4300	6503	SO:0001631	upstream_gene_variant	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56711419C>T	AB015631	CCDS8914.1	12q15	2013-07-23	2013-07-23	2007-10-22		ENSG00000257727			13529	protein-coding gene	gene with protein product		605861	"""transmembrane protein 4"", ""canopy 2 homolog (zebrafish)"""	TMEM4		10072769, 15905959	Standard	NM_001190991		Approved	HP10390, ZSIG9, Cnpy2	uc001sku.2	Q9Y2B0	OTTHUMG00000170330		12.37:g.56711419C>T	Exception_encountered					PAN2_ENST00000257931.5_Missense_Mutation_p.V1194I|PAN2_ENST00000549090.1_5'UTR|PAN2_ENST00000548043.1_Missense_Mutation_p.V1195I|PAN2_ENST00000440411.3_Missense_Mutation_p.V1191I	p.V1195I	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN			26	3959	-			1195					B2R7B9|Q9UHE9	Missense_Mutation	SNP	ENST00000273308.4	37	c.3583G>A	CCDS8914.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.141295	0.57044	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	T;T;T;T	0.24538	1.85;1.86;1.85;1.85	4.55	4.55	0.56014	.	0.687384	0.13125	N	0.411921	T	0.22475	0.0542	L	0.36672	1.1	0.37085	D	0.899176	P;P;B	0.37207	0.587;0.587;0.452	B;B;B	0.35114	0.196;0.196;0.096	T	0.18903	-1.0322	10	0.59425	D	0.04	-6.9718	13.0181	0.58771	0.0:1.0:0.0:0.0	.	1194;1191;1195	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	I	1195;1191;1194;1195	ENSP00000401721:V1195I;ENSP00000388231:V1191I;ENSP00000257931:V1194I;ENSP00000449861:V1195I	ENSP00000257931:V1194I	V	-	1	0	PAN2	54997686	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.081000	0.50120	2.538000	0.85594	0.563000	0.77884	GTC		0.463	CNPY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408546.1	NM_014255		5	49	0	0	0	1	0	5	49				
MCPH1	79648	broad.mit.edu	37	8	6312713	6312713	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr8:6312713C>G	ENST00000344683.5	+	9	1951	c.1875C>G	c.(1873-1875)gaC>gaG	p.D625E		NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	625					cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)		AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		ACTCATGTGACGGCTTTAAGG	0.348																																					Colon(95;1448 1467 8277 34473 35819)	ENST00000344683.5																		AGPAT5/MCPH1(2)	0				central_nervous_system(1)|large_intestine(4)|skin(1)	6						c.(1873-1875)gaC>gaG		microcephalin 1							147.0	140.0	142.0					8																	6312713		1848	4104	5952	SO:0001583	missense	79648					microtubule organizing center		g.chr8:6312713C>G	AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"""BRCT-repeat inhibitor of TERT expression 1"""	607117	"""microcephaly, primary autosomal recessive 1"""			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.1875C>G	8.37:g.6312713C>G	ENSP00000342924:p.Asp625Glu						p.D625E	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN		Colorectal(4;0.0505)	9	1951	+		Hepatocellular(245;0.0663)	625					B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Missense_Mutation	SNP	ENST00000344683.5	37	c.1875C>G	CCDS43689.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.576313	0.00131	.	.	ENSG00000147316	ENST00000344683	T	0.03717	3.83	5.66	-2.39	0.06602	.	0.820767	0.11426	N	0.565270	T	0.00906	0.0030	N	0.01297	-0.9	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44375	-0.9332	10	0.02654	T	1	-3.615	1.5949	0.02662	0.3942:0.1486:0.3192:0.138	.	625	Q8NEM0	MCPH1_HUMAN	E	625	ENSP00000342924:D625E	ENSP00000342924:D625E	D	+	3	2	MCPH1	6300121	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.334000	0.19787	-0.395000	0.07715	-2.251000	0.00283	GAC		0.348	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374532.2	NM_024596		8	98	0	0	0	1	0	8	98				
SGCZ	137868	broad.mit.edu	37	8	14412372	14412372	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr8:14412372G>T	ENST00000382080.1	-	2	818	c.103C>A	c.(103-105)Caa>Aaa	p.Q35K	SGCZ_ENST00000421524.2_Missense_Mutation_p.Q22K	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	22					membrane organization (GO:0061024)|muscle cell cellular homeostasis (GO:0046716)|muscle cell development (GO:0055001)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|sarcoglycan complex (GO:0016012)				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		GGGTAAAGTTGTGCATTCTCA	0.388																																						ENST00000382080.1																			0				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47						c.(103-105)Caa>Aaa		sarcoglycan, zeta							245.0	235.0	239.0					8																	14412372		2203	4300	6503	SO:0001583	missense	137868				cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma		g.chr8:14412372G>T	AY028700	CCDS5992.2	8p22	2014-09-17	2010-04-21		ENSG00000185053	ENSG00000185053			14075	protein-coding gene	gene with protein product		608113				12189167	Standard	XM_006716287		Approved	ZSG1	uc003wwq.3	Q96LD1	OTTHUMG00000090827	ENST00000382080.1:c.103C>A	8.37:g.14412372G>T	ENSP00000371512:p.Gln35Lys					SGCZ_ENST00000421524.2_Missense_Mutation_p.Q22K	p.Q35K	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN		all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)	2	818	-			22					Q6REU0	Missense_Mutation	SNP	ENST00000382080.1	37	c.103C>A	CCDS5992.2	.	.	.	.	.	.	.	.	.	.	G	14.52	2.559341	0.45590	.	.	ENSG00000185053	ENST00000382080;ENST00000421524	D;T	0.85861	-2.04;1.54	5.39	5.39	0.77823	.	0.480501	0.23918	N	0.043272	T	0.81365	0.4807	L	0.42245	1.32	0.47476	D	0.999434	B;B	0.27732	0.118;0.187	B;B	0.25140	0.018;0.058	T	0.76748	-0.2845	10	0.30078	T	0.28	.	18.5343	0.91004	0.0:0.0:1.0:0.0	.	22;35	Q08AT0;Q96LD1-2	.;.	K	35;22	ENSP00000371512:Q35K;ENSP00000405224:Q22K	ENSP00000371512:Q35K	Q	-	1	0	SGCZ	14456743	1.000000	0.71417	0.956000	0.39512	0.804000	0.45430	7.021000	0.76425	2.708000	0.92522	0.650000	0.86243	CAA		0.388	SGCZ-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207636.2	NM_139167		7	185	1	0	0.307466	1	0.307466	7	185				
MYL6B	140465	broad.mit.edu	37	12	56549344	56549344	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr12:56549344G>C	ENST00000553066.1	+	5	910	c.488G>C	c.(487-489)gGa>gCa	p.G163A	MYL6B_ENST00000550443.1_Missense_Mutation_p.G163A|MYL6_ENST00000548580.1_5'Flank|MYL6B_ENST00000207437.5_Missense_Mutation_p.G163A|RP11-603J24.14_ENST00000548731.1_RNA|MYL6_ENST00000547649.1_5'Flank|MYL6_ENST00000293422.5_5'Flank|MYL6_ENST00000551589.1_5'Flank|MYL6_ENST00000549566.1_5'Flank|MYL6_ENST00000549017.1_5'Flank|MYL6_ENST00000550697.1_5'Flank|MYL6B_ENST00000552568.1_Intron|MYL6_ENST00000547408.1_5'Flank|MYL6_ENST00000348108.4_5'Flank|MYL6_ENST00000536128.1_5'Flank|MYL6_ENST00000548293.1_5'Flank|MYL6_ENST00000548400.1_5'Flank|MYL6B_ENST00000550152.1_3'UTR			P14649	MYL6B_HUMAN	myosin, light chain 6B, alkali, smooth muscle and non-muscle	163	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle tissue development (GO:0007519)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|unconventional myosin complex (GO:0016461)	calcium ion binding (GO:0005509)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			endometrium(2)|kidney(1)|large_intestine(4)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			AAAGTCATGGGAGCAGAGCTC	0.567																																						ENST00000553066.1																			0				endometrium(2)|kidney(1)|large_intestine(4)	7						c.(487-489)gGa>gCa		myosin, light chain 6B, alkali, smooth muscle and non-muscle							149.0	131.0	137.0					12																	56549344		2203	4300	6503	SO:0001583	missense	140465				muscle filament sliding|skeletal muscle tissue development	cytosol|muscle myosin complex|unconventional myosin complex	calcium ion binding|motor activity|protein binding|structural constituent of muscle	g.chr12:56549344G>C	M31211	CCDS8905.1	12q13.2	2013-01-10	2006-09-29			ENSG00000196465		"""Myosins / Light chain"", ""EF-hand domain containing"""	29823	protein-coding gene	gene with protein product	"""myosin light chain 1 slow a"""	609930	"""myosin, light polypeptide 6B, alkali, smooth muscle and non-muscle"""			2602161, 2304459	Standard	NM_002475		Approved	MLC1SA	uc001sjs.3	P14649		ENST00000553066.1:c.488G>C	12.37:g.56549344G>C	ENSP00000450385:p.Gly163Ala					MYL6B_ENST00000550152.1_3'UTR|MYL6B_ENST00000550443.1_Missense_Mutation_p.G163A|MYL6B_ENST00000552568.1_Intron|RP11-603J24.14_ENST00000548731.1_RNA|MYL6B_ENST00000207437.5_Missense_Mutation_p.G163A	p.G163A			P14649	MYL6B_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.0979)		5	910	+			163			EF-hand 2.			Missense_Mutation	SNP	ENST00000553066.1	37	c.488G>C	CCDS8905.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.478047	0.63849	.	.	ENSG00000196465	ENST00000553066;ENST00000550443;ENST00000207437	D;D;D	0.85955	-2.05;-2.05;-2.05	5.38	5.38	0.77491	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.78278	0.4258	N	0.01277	-0.915	0.80722	D	1	B;D	0.69078	0.067;0.997	B;P	0.61592	0.056;0.891	T	0.81099	-0.1086	10	0.21540	T	0.41	-12.0517	18.2845	0.90110	0.0:0.0:1.0:0.0	.	163;163	B4E368;P14649	.;MYL6B_HUMAN	A	163	ENSP00000450385:G163A;ENSP00000446643:G163A;ENSP00000207437:G163A	ENSP00000207437:G163A	G	+	2	0	MYL6B	54835611	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.461000	0.97646	2.710000	0.92621	0.491000	0.48974	GGA		0.567	MYL6B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407920.2	NM_002475		9	161	0	0	0	1	0	9	161				
KRTAP4-6	81871	broad.mit.edu	37	17	39296254	39296254	+	Silent	SNP	C	C	G	rs72483263		TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr17:39296254C>G	ENST00000345847.4	-	1	485	c.486G>C	c.(484-486)ccG>ccC	p.P162P		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	162	30 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						ggcagcagcacgggcggcagc	0.662																																						ENST00000345847.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						c.(484-486)ccG>ccC		keratin associated protein 4-6																																				SO:0001819	synonymous_variant	81871					keratin filament		g.chr17:39296254C>G	AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.486G>C	17.37:g.39296254C>G							p.P162P	NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN			1	485	-			158			29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].		Q9BYR1	Silent	SNP	ENST00000345847.4	37	c.486G>C	CCDS54125.1																																																																																				0.662	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257779.1			3	18	0	0	0	1	0	3	18				
MTHFD1	4522	broad.mit.edu	37	14	64909076	64909076	+	Missense_Mutation	SNP	G	G	T	rs530768829		TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr14:64909076G>T	ENST00000545908.1	+	21	2489	c.2260G>T	c.(2260-2262)Gtt>Ttt	p.V754F	MTHFD1_ENST00000216605.8_Missense_Mutation_p.V698F|CTD-2555O16.2_ENST00000556640.1_RNA|CTD-2555O16.4_ENST00000609125.1_RNA			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	698	Formyltetrahydrofolate synthetase.				folic acid metabolic process (GO:0046655)|folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity (GO:0004486)			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	Tetrahydrofolic acid(DB00116)	GGTGGTGCTTGTTGCCACTGT	0.537																																					Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)	ENST00000555709.1																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30						c.(2092-2094)Gtt>Ttt		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	NADH(DB00157)|Tetrahydrofolic acid(DB00116)						60.0	62.0	61.0					14																	64909076		2203	4300	6503	SO:0001583	missense	4522				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding	g.chr14:64909076G>T	J04031	CCDS9763.1	14q24	2004-12-13			ENSG00000100714	ENSG00000100714	1.5.1.15, 3.5.4.-		7432	protein-coding gene	gene with protein product		172460		MTHFC, MTHFD		3053686, 2786332	Standard	NM_005956		Approved		uc001xhb.3	P11586	OTTHUMG00000141309	ENST00000545908.1:c.2260G>T	14.37:g.64909076G>T	ENSP00000438588:p.Val754Phe					MTHFD1_ENST00000216605.7_Missense_Mutation_p.V754F|CTD-2555O16.2_ENST00000556640.1_RNA|MTHFD1_ENST00000545908.1_Missense_Mutation_p.V754F	p.V698F	NM_005956.3	NP_005947.3	P11586	C1TC_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	21	2479	+			698			Formyltetrahydrofolate synthetase.		B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Missense_Mutation	SNP	ENST00000545908.1	37	c.2092G>T		.	.	.	.	.	.	.	.	.	.	G	28.7	4.943524	0.92593	.	.	ENSG00000100714	ENST00000545908;ENST00000555709;ENST00000216605	T;T;T	0.37752	1.18;1.18;1.18	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.79522	0.4460	H	0.99535	4.615	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.87693	0.2555	10	0.87932	D	0	-25.0864	20.5827	0.99408	0.0:0.0:1.0:0.0	.	754;698	F5H2F4;G3V2B8	.;.	F	754;698;754	ENSP00000438588:V754F;ENSP00000450560:V698F;ENSP00000216605:V754F	ENSP00000216605:V698F	V	+	1	0	MTHFD1	63978829	1.000000	0.71417	0.985000	0.45067	0.582000	0.36321	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GTT		0.537	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000412167.1			4	89	1	0	0.00024832	1	0.000267422	4	89				
ZNF519	162655	broad.mit.edu	37	18	14105529	14105529	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr18:14105529T>C	ENST00000590202.1	-	3	1162	c.1010A>G	c.(1009-1011)cAa>cGa	p.Q337R	ZNF519_ENST00000589203.1_Intron|ZNF519_ENST00000589498.1_Intron|RP11-411B10.3_ENST00000592926.1_RNA	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	337					negative regulation of transcription during meiosis (GO:0051038)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						TCTCTGATGTTGAGTAAGGTA	0.428																																						ENST00000590202.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						c.(1009-1011)cAa>cGa		zinc finger protein 519							98.0	101.0	100.0					18																	14105529		2203	4300	6503	SO:0001583	missense	162655				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:14105529T>C	BC024227	CCDS32797.1	18p11.21	2014-06-18			ENSG00000175322	ENSG00000175322		"""Zinc fingers, C2H2-type"", ""-"""	30574	protein-coding gene	gene with protein product	"""similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1)"""					12477932	Standard	NM_145287		Approved	HsT2362, FLJ36809	uc002kst.2	Q8TB69	OTTHUMG00000182055	ENST00000590202.1:c.1010A>G	18.37:g.14105529T>C	ENSP00000464872:p.Gln337Arg					ZNF519_ENST00000589203.1_Intron|ZNF519_ENST00000589498.1_Intron	p.Q337R	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN			3	1162	-			337						Missense_Mutation	SNP	ENST00000590202.1	37	c.1010A>G	CCDS32797.1	.	.	.	.	.	.	.	.	.	.	T	0.080	-1.186245	0.01620	.	.	ENSG00000175322	ENST00000309305	.	.	.	0.646	-1.29	0.09288	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07638	0.0192	N	0.01015	-1.05	0.09310	N	1	B	0.17465	0.022	B	0.20184	0.028	T	0.27872	-1.0061	8	0.11485	T	0.65	.	2.6603	0.05025	0.0:0.2442:0.2694:0.4864	.	337	Q8TB69	ZN519_HUMAN	R	337	.	ENSP00000307908:Q337R	Q	-	2	0	ZNF519	14095529	0.000000	0.05858	0.015000	0.15790	0.524000	0.34500	-11.465000	0.00003	-1.219000	0.02597	0.076000	0.15429	CAA		0.428	ZNF519-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459037.1	NM_145287		10	132	0	0	0	1	0	10	132				
KIAA1211	57482	broad.mit.edu	37	4	57181784	57181784	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr4:57181784C>T	ENST00000504228.1	+	6	2221	c.2116C>T	c.(2116-2118)Cgc>Tgc	p.R706C	KIAA1211_ENST00000541073.1_Missense_Mutation_p.R699C|KIAA1211_ENST00000264229.6_Missense_Mutation_p.R706C			Q6ZU35	K1211_HUMAN	KIAA1211	706										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GTGTGATTCCCGCGGGAACCA	0.582																																						ENST00000504228.1																			0				endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65						c.(2116-2118)Cgc>Tgc		KIAA1211							55.0	65.0	61.0					4																	57181784		1960	4147	6107	SO:0001583	missense	57482							g.chr4:57181784C>T	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.2116C>T	4.37:g.57181784C>T	ENSP00000423366:p.Arg706Cys					KIAA1211_ENST00000264229.6_Missense_Mutation_p.R706C|KIAA1211_ENST00000541073.1_Missense_Mutation_p.R699C	p.R706C			Q6ZU35	K1211_HUMAN			6	2221	+	Glioma(25;0.08)|all_neural(26;0.101)		706					Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	c.2116C>T	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	C	31	5.066416	0.93898	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.02280	4.36;4.36;4.36	4.47	4.47	0.54385	.	.	.	.	.	T	0.10852	0.0265	M	0.64997	1.995	0.53688	D	0.999974	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.69824	0.953;0.953;0.966	T	0.01294	-1.1393	9	0.87932	D	0	-6.2129	17.3293	0.87258	0.0:1.0:0.0:0.0	.	699;699;706	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	C	706;706;699;616	ENSP00000264229:R706C;ENSP00000423366:R706C;ENSP00000444006:R699C	ENSP00000264229:R706C	R	+	1	0	KIAA1211	56876541	1.000000	0.71417	0.505000	0.27651	0.416000	0.31233	7.132000	0.77251	2.306000	0.77630	0.555000	0.69702	CGC		0.582	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		20	146	0	0	0	1	0	20	146				
CSPG4	1464	broad.mit.edu	37	15	75985564	75985564	+	Silent	SNP	G	G	A			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr15:75985564G>A	ENST00000308508.5	-	2	191	c.99C>T	c.(97-99)ttC>ttT	p.F33F		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	33	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GGTTCTCACCGAAGAAGGAAG	0.617																																						ENST00000308508.5																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(97-99)ttC>ttT		chondroitin sulfate proteoglycan 4							33.0	24.0	27.0					15																	75985564		2197	4294	6491	SO:0001819	synonymous_variant	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75985564G>A	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.99C>T	15.37:g.75985564G>A							p.F33F	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN			2	191	-			33			Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 1.|Neurite growth inhibition (By similarity).		D3DW77|Q92675	Silent	SNP	ENST00000308508.5	37	c.99C>T	CCDS10284.1																																																																																				0.617	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		7	24	0	0	0	1	0	7	24				
ADIPOR2	79602	broad.mit.edu	37	12	1889767	1889767	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr12:1889767A>G	ENST00000357103.4	+	5	865	c.614A>G	c.(613-615)tAc>tGc	p.Y205C		NM_024551.2	NP_078827.2	Q86V24	ADR2_HUMAN	adiponectin receptor 2	205					adiponectin-activated signaling pathway (GO:0033211)|fatty acid oxidation (GO:0019395)|female pregnancy (GO:0007565)|heart development (GO:0007507)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of cell growth (GO:0030308)|positive regulation of glucose import (GO:0046326)|response to nutrient (GO:0007584)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|receptor activity (GO:0004872)			endometrium(1)|large_intestine(3)|lung(7)|stomach(1)	12	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			CACACAGTCTACTGCCACTCA	0.448																																						ENST00000357103.4																			0				endometrium(1)|large_intestine(3)|lung(7)|stomach(1)	12						c.(613-615)tAc>tGc		adiponectin receptor 2							147.0	149.0	148.0					12																	1889767		2203	4300	6503	SO:0001583	missense	79602				fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane	hormone binding|receptor activity	g.chr12:1889767A>G	AY424280	CCDS8511.1	12p13	2012-08-22			ENSG00000006831	ENSG00000006831		"""GPCR / Unclassified : Adiponectin receptors"""	24041	protein-coding gene	gene with protein product		607946				12802337	Standard	NM_024551		Approved	PAQR2, ACDCR2	uc001qjm.3	Q86V24	OTTHUMG00000130139	ENST00000357103.4:c.614A>G	12.37:g.1889767A>G	ENSP00000349616:p.Tyr205Cys						p.Y205C	NM_024551.2	NP_078827.2	Q86V24	ADR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000382)		5	865	+	Ovarian(42;0.107)		205					Q53YY5|Q9H737	Missense_Mutation	SNP	ENST00000357103.4	37	c.614A>G	CCDS8511.1	.	.	.	.	.	.	.	.	.	.	A	16.41	3.115224	0.56505	.	.	ENSG00000006831	ENST00000357103	T	0.28454	1.61	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.21387	0.0515	N	0.10874	0.06	0.80722	D	1	B	0.24618	0.107	B	0.29176	0.099	T	0.07065	-1.0792	10	0.39692	T	0.17	-18.178	16.255	0.82510	1.0:0.0:0.0:0.0	.	205	Q86V24	ADR2_HUMAN	C	205	ENSP00000349616:Y205C	ENSP00000349616:Y205C	Y	+	2	0	ADIPOR2	1760028	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.240000	0.73641	0.533000	0.62120	TAC		0.448	ADIPOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252447.2	NM_024551		15	158	0	0	0	1	0	15	158				
GLG1	2734	broad.mit.edu	37	16	74490581	74490581	+	Missense_Mutation	SNP	T	T	C	rs144493700	byFrequency	TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr16:74490581T>C	ENST00000422840.2	-	25	3337	c.3338A>G	c.(3337-3339)aAt>aGt	p.N1113S	GLG1_ENST00000447066.2_Missense_Mutation_p.N1102S|RNU6-237P_ENST00000515985.1_RNA|GLG1_ENST00000205061.5_Missense_Mutation_p.N1113S	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	1113					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						AATCCGGTCATTGAGGCGCTT	0.418																																						ENST00000422840.2																			0				breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						c.(3337-3339)aAt>aGt		golgi glycoprotein 1							146.0	141.0	143.0					16																	74490581		2198	4300	6498	SO:0001583	missense	2734					Golgi membrane|integral to membrane	receptor binding	g.chr16:74490581T>C		CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"""golgi apparatus protein 1"""			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.3338A>G	16.37:g.74490581T>C	ENSP00000405984:p.Asn1113Ser					GLG1_ENST00000447066.2_Missense_Mutation_p.N1102S|GLG1_ENST00000205061.5_Missense_Mutation_p.N1113S	p.N1113S	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN			25	3337	-			1113					B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Missense_Mutation	SNP	ENST00000422840.2	37	c.3338A>G	CCDS45527.1	.	.	.	.	.	.	.	.	.	.	T	11.26	1.584942	0.28268	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	5.75	5.75	0.90469	.	0.110120	0.64402	D	0.000003	T	0.35941	0.0949	N	0.08118	0	0.40384	D	0.979479	B;B;B;B	0.12630	0.0;0.004;0.006;0.003	B;B;B;B	0.13407	0.0;0.006;0.009;0.004	T	0.31613	-0.9937	9	0.07325	T	0.83	-14.6311	16.0681	0.80903	0.0:0.0:0.0:1.0	.	243;1113;1113;1102	Q6ZMF1;Q92896;Q92896-2;B7Z8Y4	.;GSLG1_HUMAN;.;.	S	1113;1102;1113	.	ENSP00000205061:N1113S	N	-	2	0	GLG1	73048082	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.698000	0.84413	2.188000	0.69820	0.528000	0.53228	AAT		0.418	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201		23	112	0	0	0	1	0	23	112				
SPATA2	9825	broad.mit.edu	37	20	48525010	48525010	+	Silent	SNP	T	T	G			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr20:48525010T>G	ENST00000422556.1	-	2	367	c.18A>C	c.(16-18)tcA>tcC	p.S6S	SPATA2_ENST00000543716.1_Intron|SPATA2_ENST00000289431.5_Silent_p.S6S	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	6					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			TAGTATCCATTGAACTGGGCT	0.522																																						ENST00000422556.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20						c.(16-18)tcA>tcC		spermatogenesis associated 2							69.0	67.0	67.0					20																	48525010		2203	4300	6503	SO:0001819	synonymous_variant	9825				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus		g.chr20:48525010T>G	AB018300	CCDS13422.1	20q13.13	2014-06-13			ENSG00000158480	ENSG00000158480			14681	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 145"""	607662					Standard	NM_001135773		Approved	KIAA0757, PD1, tamo, PPP1R145	uc002xuw.3	Q9UM82	OTTHUMG00000032704	ENST00000422556.1:c.18A>C	20.37:g.48525010T>G						SPATA2_ENST00000543716.1_Intron|SPATA2_ENST00000289431.5_Silent_p.S6S	p.S6S	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;4.03e-06)		2	367	-	Hepatocellular(150;0.133)		6					E1P626|O94857	Silent	SNP	ENST00000422556.1	37	c.18A>C	CCDS13422.1																																																																																				0.522	SPATA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079658.1	NM_006038		5	51	0	0	0	1	0	5	51				
NACA	4666	broad.mit.edu	37	12	57112089	57112089	+	Silent	SNP	G	G	A			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr12:57112089G>A	ENST00000454682.1	-	3	3506	c.3225C>T	c.(3223-3225)tcC>tcT	p.S1075S	NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1075	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CCCCCTTGAGGGATGGGGTAG	0.667			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(3223-3225)tcC>tcT		nascent polypeptide-associated complex alpha subunit							36.0	41.0	40.0					12																	57112089		1403	3252	4655	SO:0001819	synonymous_variant	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57112089G>A	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.3225C>T	12.37:g.57112089G>A						NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron	p.S1075S	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	3506	-			0						Silent	SNP	ENST00000454682.1	37	c.3225C>T																																																																																					0.667	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		5	115	0	0	0	1	0	5	115				
ZNF804B	219578	broad.mit.edu	37	7	88956732	88956732	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr7:88956732A>C	ENST00000333190.4	+	3	933	c.324A>C	c.(322-324)caA>caC	p.Q108H		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	108							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AGAAAAAACAAGAAAAAGCAC	0.373										HNSCC(36;0.09)																												ENST00000333190.4																			0				NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144						c.(322-324)caA>caC		zinc finger protein 804B							97.0	98.0	97.0					7																	88956732		2203	4300	6503	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88956732A>C	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.324A>C	7.37:g.88956732A>C	ENSP00000329638:p.Gln108His	HNSCC(36;0.09)					p.Q108H	NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		3	933	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		108					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.324A>C	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	A	19.85	3.903172	0.72754	.	.	ENSG00000182348	ENST00000333190	T	0.19938	2.11	5.04	2.74	0.32292	.	0.000000	0.56097	D	0.000022	T	0.40570	0.1122	M	0.78049	2.395	0.39089	D	0.961064	D	0.89917	1.0	D	0.87578	0.998	T	0.36286	-0.9754	10	0.87932	D	0	-15.6722	4.7768	0.13184	0.6055:0.0:0.3944:0.0	.	108	A4D1E1	Z804B_HUMAN	H	108	ENSP00000329638:Q108H	ENSP00000329638:Q108H	Q	+	3	2	ZNF804B	88794668	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.822000	0.39052	1.057000	0.40506	0.528000	0.53228	CAA		0.373	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		4	70	0	0	0	1	0	4	70				
DMPK	1760	broad.mit.edu	37	19	46281067	46281067	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr19:46281067C>T	ENST00000291270.4	-	7	865	c.740G>A	c.(739-741)gGc>gAc	p.G247D	DMPK_ENST00000600757.1_Missense_Mutation_p.G257D|DMPK_ENST00000595361.1_5'Flank|DMPK_ENST00000458663.2_Missense_Mutation_p.G247D|DMPK_ENST00000354227.5_Missense_Mutation_p.G247D|DMPK_ENST00000343373.4_Missense_Mutation_p.G257D|DMPK_ENST00000447742.2_Missense_Mutation_p.G247D	NM_004409.3	NP_004400.4	Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	247	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular calcium ion homeostasis (GO:0006874)|muscle cell apoptotic process (GO:0010657)|nuclear envelope organization (GO:0006998)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction (GO:0014853)|regulation of heart contraction (GO:0008016)|regulation of myotube differentiation (GO:0010830)|regulation of skeletal muscle contraction by calcium ion signaling (GO:0014722)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of mitochondrial outer membrane (GO:0031307)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|myosin phosphatase regulator activity (GO:0017020)|protein serine/threonine kinase activity (GO:0004674)			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		AGGCCCACCGCCCACAGCCTG	0.652																																					Esophageal Squamous(35;307 869 9153 24033 28903)	ENST00000600757.1																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16						c.(769-771)gGc>gAc		dystrophia myotonica-protein kinase							51.0	58.0	56.0					19																	46281067		2202	4296	6498	SO:0001583	missense	1760				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:46281067C>T	L19268	CCDS12674.1, CCDS46117.1, CCDS46118.1, CCDS46119.1, CCDS74400.1	19q13.3	2014-02-05					2.7.11.1		2933	protein-coding gene	gene with protein product	"""dystrophia myotonica 1"", ""DM protein kinase"", ""myotonin protein kinase A"", ""myotonic dystrophy associated protein kinase"", ""thymopoietin homolog"""	605377	"""dystrophia myotonica 1 (includes dystrophia myotonia protein kinase)"""	DM1, DM		1546325, 1546326	Standard	NM_001288765		Approved	DMK, DM1PK, MDPK, MT-PK	uc002pdf.1	Q09013		ENST00000291270.4:c.740G>A	19.37:g.46281067C>T	ENSP00000291270:p.Gly247Asp					DMPK_ENST00000354227.5_Missense_Mutation_p.G247D|DMPK_ENST00000343373.4_Missense_Mutation_p.G257D|DMPK_ENST00000447742.2_Missense_Mutation_p.G247D|DMPK_ENST00000458663.2_Missense_Mutation_p.G247D|DMPK_ENST00000291270.4_Missense_Mutation_p.G247D	p.G257D			Q09013	DMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)	6	1457	-		Ovarian(192;0.0308)|all_neural(266;0.112)	257			Protein kinase.		E5KR08|Q16205|Q6P5Z6	Missense_Mutation	SNP	ENST00000291270.4	37	c.770G>A	CCDS12674.1	.	.	.	.	.	.	.	.	.	.	c	20.6	4.012150	0.75046	.	.	ENSG00000104936	ENST00000458663;ENST00000342805;ENST00000291270;ENST00000447742;ENST00000377750;ENST00000343373;ENST00000348168;ENST00000354227	T;T;T;T;T	0.72167	-0.63;-0.58;-0.61;-0.6;-0.57	4.77	4.77	0.60923	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.45126	D	0.000391	T	0.70527	0.3234	L	0.42686	1.345	0.80722	D	1	B;D;D;P;P;P;D;D	0.62365	0.026;0.96;0.977;0.855;0.916;0.941;0.969;0.991	B;B;P;P;B;P;P;P	0.55303	0.041;0.397;0.653;0.574;0.41;0.688;0.52;0.773	T	0.70011	-0.4989	10	0.44086	T	0.13	.	8.837	0.35117	0.0:0.8998:0.0:0.1002	.	247;247;273;247;247;247;294;257	Q09013-12;Q09013-16;G5E982;E5KR07;E5KR05;Q09013;Q59FU6;E5KR08	.;.;.;.;.;DMPK_HUMAN;.;.	D	247;273;247;247;247;257;257;247	ENSP00000401753:G247D;ENSP00000291270:G247D;ENSP00000413417:G247D;ENSP00000345997:G257D;ENSP00000346168:G247D	ENSP00000291270:G247D	G	-	2	0	DMPK	50972907	0.997000	0.39634	0.998000	0.56505	0.955000	0.61496	3.246000	0.51414	2.455000	0.83008	0.655000	0.94253	GGC		0.652	DMPK-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460572.1	NM_004409		8	161	0	0	0	1	0	8	161				
SLC2A14	144195	broad.mit.edu	37	12	7967015	7967015	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr12:7967015C>T	ENST00000543909.1	-	16	2219	c.1460G>A	c.(1459-1461)cGg>cAg	p.R487Q	SLC2A14_ENST00000340749.5_Missense_Mutation_p.R464Q|SLC2A14_ENST00000542505.1_Missense_Mutation_p.R128Q|SLC2A14_ENST00000539924.1_Missense_Mutation_p.R502Q|SLC2A14_ENST00000431042.2_Missense_Mutation_p.R464Q|SLC2A14_ENST00000542546.1_Missense_Mutation_p.R378Q|SLC2A14_ENST00000535295.1_Missense_Mutation_p.R378Q|SLC2A14_ENST00000396589.2_Missense_Mutation_p.R487Q			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	487					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		TTCAAAGGCCCGTGTGATATC	0.517																																						ENST00000543909.1																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38						c.(1459-1461)cGg>cAg		solute carrier family 2 (facilitated glucose transporter), member 14							120.0	88.0	99.0					12																	7967015		2203	4300	6503	SO:0001583	missense	144195				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity	g.chr12:7967015C>T	AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"""Solute carriers"""	18301	protein-coding gene	gene with protein product		611039	"""solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"""	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.1460G>A	12.37:g.7967015C>T	ENSP00000440480:p.Arg487Gln					SLC2A14_ENST00000396589.2_Missense_Mutation_p.R487Q|SLC2A14_ENST00000431042.2_Missense_Mutation_p.R464Q|SLC2A14_ENST00000539924.1_Missense_Mutation_p.R502Q|SLC2A14_ENST00000535295.1_Missense_Mutation_p.R378Q|SLC2A14_ENST00000542546.1_Missense_Mutation_p.R378Q|SLC2A14_ENST00000542505.1_Missense_Mutation_p.R128Q|SLC2A14_ENST00000340749.5_Missense_Mutation_p.R464Q	p.R487Q			Q8TDB8	GTR14_HUMAN		Kidney(36;0.0883)	16	2219	-			487					B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Missense_Mutation	SNP	ENST00000543909.1	37	c.1460G>A	CCDS8585.1	.	.	.	.	.	.	.	.	.	.	C	14.11	2.436519	0.43224	.	.	ENSG00000173262	ENST00000340749;ENST00000543909;ENST00000431042;ENST00000542505;ENST00000396589;ENST00000535295;ENST00000542546;ENST00000539924	T;T;T;T;T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85;-0.85;-0.85;-0.85;-0.85	3.81	-0.444	0.12245	Major facilitator superfamily domain, general substrate transporter (1);	0.263966	0.38164	N	0.001792	T	0.48429	0.1499	N	0.16602	0.42	0.09310	N	0.999999	B;B;B;B	0.24721	0.11;0.027;0.051;0.057	B;B;B;B	0.22753	0.041;0.015;0.009;0.022	T	0.24225	-1.0166	10	0.16420	T	0.52	.	4.6099	0.12397	0.0:0.4381:0.1619:0.4	.	502;378;464;487	B7ZAC3;B7Z844;Q8TDB8-2;Q8TDB8	.;.;.;GTR14_HUMAN	Q	464;487;464;128;487;378;378;502	ENSP00000340450:R464Q;ENSP00000440480:R487Q;ENSP00000407287:R464Q;ENSP00000438484:R128Q;ENSP00000379834:R487Q;ENSP00000440492:R378Q;ENSP00000443903:R378Q;ENSP00000445929:R502Q	ENSP00000340450:R464Q	R	-	2	0	SLC2A14	7858282	0.001000	0.12720	0.047000	0.18901	0.899000	0.52679	-0.098000	0.11024	-0.069000	0.12931	-0.459000	0.05422	CGG		0.517	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	NM_153449		4	159	0	0	0	1	0	4	159				
KMT2D	8085	broad.mit.edu	37	12	49416433	49416433	+	Nonsense_Mutation	SNP	G	G	C			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr12:49416433G>C	ENST00000301067.7	-	51	16277	c.16278C>G	c.(16276-16278)taC>taG	p.Y5426*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5426	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TGGTGCCAATGTACTCGATAA	0.552																																						ENST00000301067.7																			0											c.(16276-16278)taC>taG		lysine (K)-specific methyltransferase 2D							185.0	191.0	189.0					12																	49416433		2036	4170	6206	SO:0001587	stop_gained	8085							g.chr12:49416433G>C	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.16278C>G	12.37:g.49416433G>C	ENSP00000301067:p.Tyr5426*						p.Y5426*	NM_003482.3	NP_003473.3					51	16277	-								O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	c.16278C>G	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	56	25.352275	0.99964	.	.	ENSG00000167548	ENST00000301067;ENST00000526209	.	.	.	5.09	-0.117	0.13551	.	0.000000	0.33959	N	0.004386	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	9.8645	0.41134	0.5724:0.0:0.4276:0.0	.	.	.	.	X	5426;107	.	ENSP00000301067:Y5426X	Y	-	3	2	MLL2	47702700	1.000000	0.71417	0.993000	0.49108	0.980000	0.70556	2.571000	0.45990	-0.228000	0.09869	-0.229000	0.12294	TAC		0.552	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			55	239	0	0	0	1	0	55	239				
P4HA2	8974	broad.mit.edu	37	5	131544974	131544974	+	Silent	SNP	A	A	G	rs148453847		TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr5:131544974A>G	ENST00000401867.1	-	8	1328	c.760T>C	c.(760-762)Ttg>Ctg	p.L254L	P4HA2_ENST00000379100.2_Silent_p.L254L|P4HA2_ENST00000360568.3_Silent_p.L254L|P4HA2_ENST00000379104.2_Silent_p.L254L|P4HA2_ENST00000166534.4_Silent_p.L254L|P4HA2_ENST00000379086.1_Silent_p.L254L			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	254					peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|procollagen-proline 4-dioxygenase complex (GO:0016222)	electron carrier activity (GO:0009055)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	TCTTCCTCCAATAACTGCTCA	0.468													A|||	1	0.000199681	0.0008	0.0	5008	,	,		20085	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(68;117 1135 17362 19256 34242)	ENST00000401867.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(760-762)Ttg>Ctg		prolyl 4-hydroxylase, alpha polypeptide II	L-Proline(DB00172)|Succinic acid(DB00139)						211.0	207.0	208.0					5																	131544974		2203	4300	6503	SO:0001819	synonymous_variant	8974					endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding	g.chr5:131544974A>G	U90441	CCDS4151.1, CCDS34230.1	5q31	2008-12-09	2008-12-09		ENSG00000072682	ENSG00000072682	1.14.11.2		8547	protein-coding gene	gene with protein product	"""4-PH alpha 2"", ""collagen prolyl 4-hydroxylase alpha(II)"""	600608	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II"""			9211872, 9149945	Standard	NM_001142598		Approved	C-P4Halpha(II)	uc003kwl.3	O15460	OTTHUMG00000059647	ENST00000401867.1:c.760T>C	5.37:g.131544974A>G						P4HA2_ENST00000379104.2_Silent_p.L254L|P4HA2_ENST00000379086.1_Silent_p.L254L|P4HA2_ENST00000379100.2_Silent_p.L254L|P4HA2_ENST00000360568.3_Silent_p.L254L|P4HA2_ENST00000166534.4_Silent_p.L254L	p.L254L			O15460	P4HA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		8	1328	-		all_cancers(142;0.103)|Breast(839;0.198)	254					D3DQ85|D3DQ86|Q8WWN0	Silent	SNP	ENST00000401867.1	37	c.760T>C	CCDS4151.1																																																																																				0.468	P4HA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132653.4	NM_004199		7	231	0	0	0	1	0	7	231				
IL17RA	23765	broad.mit.edu	37	22	17589607	17589607	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr22:17589607G>A	ENST00000319363.6	+	13	1631	c.1498G>A	c.(1498-1500)Gta>Ata	p.V500I		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	500	SEFIR. {ECO:0000255|PROSITE- ProRule:PRU00867}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	interleukin-17 receptor activity (GO:0030368)			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CGGCACCTACGTAGTCTGCTA	0.642																																						ENST00000319363.6																			0				endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30						c.(1498-1500)Gta>Ata		interleukin 17 receptor A							29.0	31.0	30.0					22																	17589607		2203	4300	6503	SO:0001583	missense	23765				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity	g.chr22:17589607G>A	U58917	CCDS13739.1	22q11.1	2014-09-17	2006-04-26	2006-04-26	ENSG00000177663	ENSG00000177663		"""Interleukins and interleukin receptors"", ""CD molecules"""	5985	protein-coding gene	gene with protein product		605461	"""interleukin 17 receptor"""	IL17R		9367539, 10591208	Standard	NM_014339		Approved	hIL-17R, IL-17RA, CDw217, CD217	uc002zly.4	Q96F46	OTTHUMG00000150026	ENST00000319363.6:c.1498G>A	22.37:g.17589607G>A	ENSP00000320936:p.Val500Ile						p.V500I	NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN		Colorectal(9;0.241)	13	1631	+		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	500			SEFIR.		O43844|Q20WK1	Missense_Mutation	SNP	ENST00000319363.6	37	c.1498G>A	CCDS13739.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.887557	0.00527	.	.	ENSG00000177663	ENST00000425985;ENST00000319363	T	0.29655	1.56	5.46	-4.43	0.03568	SEFIR (1);	0.477489	0.22669	N	0.057081	T	0.07818	0.0196	N	0.01624	-0.795	0.19945	N	0.99994	B;B	0.15141	0.012;0.01	B;B	0.19391	0.025;0.013	T	0.35351	-0.9792	10	0.02654	T	1	-14.7139	11.3221	0.49428	0.3152:0.1008:0.5839:0.0	.	448;500	D3YTB4;Q96F46	.;I17RA_HUMAN	I	448;500	ENSP00000320936:V500I	ENSP00000320936:V500I	V	+	1	0	IL17RA	15969607	0.003000	0.15002	0.060000	0.19600	0.085000	0.17905	-0.096000	0.11059	-0.608000	0.05731	-0.391000	0.06502	GTA		0.642	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315820.1	NM_014339		4	28	0	0	0	1	0	4	28				
CR1L	1379	broad.mit.edu	37	1	207818584	207818584	+	Silent	SNP	G	G	T			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr1:207818584G>T	ENST00000508064.2	+	1	66	c.6G>T	c.(4-6)gcG>gcT	p.A2A		NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	2						cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CGCTCATGGCGCCTCCCGTCC	0.637																																						ENST00000508064.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(4-6)gcG>gcT		complement component (3b/4b) receptor 1-like							56.0	62.0	60.0					1																	207818584		2203	4300	6503	SO:0001819	synonymous_variant	1379					cytoplasm|extracellular region|membrane		g.chr1:207818584G>T	AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721		"""Complement system"""	2335	protein-coding gene	gene with protein product		605886				2295627	Standard	NM_175710		Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.6G>T	1.37:g.207818584G>T							p.A2A	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN			1	66	+			2					Q32MC9|Q8NEU7	Silent	SNP	ENST00000508064.2	37	c.6G>T	CCDS44310.1																																																																																				0.637	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390247.1	XM_114735		5	88	1	0	0.000602214	1	0.000638712	5	88				
LILRB1	10859	broad.mit.edu	37	19	55143586	55143586	+	Missense_Mutation	SNP	G	G	A	rs529461921		TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr19:55143586G>A	ENST00000396331.1	+	6	916	c.559G>A	c.(559-561)Gtg>Atg	p.V187M	LILRB1_ENST00000396317.1_Missense_Mutation_p.V187M|LILRB1_ENST00000418536.2_Missense_Mutation_p.V187M|LILRB1_ENST00000396327.3_Missense_Mutation_p.V187M|LILRB1_ENST00000396332.4_Missense_Mutation_p.V187M|LILRB1_ENST00000434867.2_Missense_Mutation_p.V187M|AC009892.1_ENST00000578908.1_RNA|LILRB1_ENST00000324602.7_Missense_Mutation_p.V187M|LILRB1_ENST00000448689.1_Missense_Mutation_p.V187M|LILRB1_ENST00000396315.1_Missense_Mutation_p.V187M|LILRB1_ENST00000396321.2_Missense_Mutation_p.V187M|LILRB1_ENST00000427581.2_Missense_Mutation_p.V223M	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	187	Ig-like C2-type 2.				cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CGTGGGCCCCGTGAGCCCGAG	0.587										HNSCC(37;0.09)			g|||	1	0.000199681	0.0008	0.0	5008	,	,		18727	0.0		0.0	False		,,,				2504	0.0					ENST00000396331.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(559-561)Gtg>Atg		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1							134.0	132.0	133.0					19																	55143586		2203	4300	6503	SO:0001583	missense	0				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55143586G>A	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.559G>A	19.37:g.55143586G>A	ENSP00000379622:p.Val187Met	HNSCC(37;0.09)				LILRB1_ENST00000396332.4_Missense_Mutation_p.V187M|LILRB1_ENST00000448689.1_Missense_Mutation_p.V187M|LILRB1_ENST00000434867.2_Missense_Mutation_p.V187M|LILRB1_ENST00000324602.7_Missense_Mutation_p.V187M|LILRB1_ENST00000396317.1_Missense_Mutation_p.V187M|LILRB1_ENST00000396327.3_Missense_Mutation_p.V187M|LILRB1_ENST00000427581.2_Missense_Mutation_p.V223M|LILRB1_ENST00000396315.1_Missense_Mutation_p.V187M|LILRB1_ENST00000418536.2_Missense_Mutation_p.V187M|LILRB1_ENST00000396321.2_Missense_Mutation_p.V187M	p.V187M	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	6	916	+			187			Ig-like C2-type 2.		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	c.559G>A	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	G	11.11	1.541058	0.27563	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T;T	0.05786	3.39;3.39;3.39;3.39;3.39;3.39;3.39;3.39;3.39;3.39;3.39	1.57	-1.03	0.10102	Immunoglobulin-like fold (1);	0.759821	0.11578	N	0.550089	T	0.16727	0.0402	M	0.75447	2.3	0.09310	N	1	D;D;D;D;D	0.89917	1.0;0.998;0.999;0.989;0.998	D;P;P;P;P	0.75484	0.986;0.896;0.825;0.686;0.902	T	0.13202	-1.0518	10	0.48119	T	0.1	.	2.251	0.04043	0.2014:0.0:0.5031:0.2956	.	187;187;187;187;187	A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;LIRB1_HUMAN	M	187;187;187;187;187;187;187;187;223;187;187	ENSP00000379614:V187M;ENSP00000391514:V187M;ENSP00000409968:V187M;ENSP00000379622:V187M;ENSP00000379618:V187M;ENSP00000315997:V187M;ENSP00000405243:V187M;ENSP00000379623:V187M;ENSP00000395004:V223M;ENSP00000379610:V187M;ENSP00000379608:V187M	ENSP00000315997:V187M	V	+	1	0	LILRB1	59835398	0.003000	0.15002	0.001000	0.08648	0.040000	0.13550	-0.395000	0.07287	-0.167000	0.10871	0.184000	0.17185	GTG		0.587	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			4	201	0	0	0	1	0	4	201				
KANK1	23189	broad.mit.edu	37	9	732477	732477	+	Silent	SNP	G	G	A	rs569686873|rs370051574		TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr9:732477G>A	ENST00000382303.1	+	10	3757	c.3105G>A	c.(3103-3105)gaG>gaA	p.E1035E	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Silent_p.E1035E|KANK1_ENST00000382293.3_Silent_p.E877E	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1035					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TTGAAGAAGAGGAGGAGGAGG	0.468													G|||	1	0.000199681	0.0	0.0	5008	,	,		19819	0.0		0.0	False		,,,				2504	0.001					ENST00000382303.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43						c.(3103-3105)gaG>gaA		KN motif and ankyrin repeat domains 1							153.0	134.0	140.0					9																	732477		2203	4300	6503	SO:0001819	synonymous_variant	23189				negative regulation of actin filament polymerization	cytoplasm		g.chr9:732477G>A	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.3105G>A	9.37:g.732477G>A						KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Silent_p.E1035E|KANK1_ENST00000382293.3_Silent_p.E877E	p.E1035E	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)	10	3757	+		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)	1035					A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Silent	SNP	ENST00000382303.1	37	c.3105G>A	CCDS34976.1																																																																																				0.468	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		4	131	0	0	0	1	0	4	131				
PRTFDC1	56952	broad.mit.edu	37	10	25160959	25160959	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr10:25160959C>T	ENST00000320152.6	-	4	401	c.373G>A	c.(373-375)Gga>Aga	p.G125R	PRTFDC1_ENST00000376378.1_Missense_Mutation_p.G125R	NM_020200.5	NP_064585.1	Q9NRG1	PRDC1_HUMAN	phosphoribosyl transferase domain containing 1	125					nucleoside metabolic process (GO:0009116)	cytosol (GO:0005829)	magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)	p.G125R(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						TCATCGCCTCCGATTATCTGC	0.453																																						ENST00000320152.6																			1	Substitution - Missense(1)	p.G125R(1)	ovary(1)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						c.(373-375)Gga>Aga		phosphoribosyl transferase domain containing 1							276.0	237.0	250.0					10																	25160959		2203	4300	6503	SO:0001583	missense	56952				adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP salvage|grooming behavior|hypoxanthine metabolic process|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity	g.chr10:25160959C>T	AF226056	CCDS7145.1, CCDS60506.1	10p12.31	2003-11-10			ENSG00000099256	ENSG00000099256			23333	protein-coding gene	gene with protein product		610751					Standard	XM_005252537		Approved	HHGP	uc001ise.1	Q9NRG1	OTTHUMG00000017829	ENST00000320152.6:c.373G>A	10.37:g.25160959C>T	ENSP00000318602:p.Gly125Arg					PRTFDC1_ENST00000376378.1_Missense_Mutation_p.G125R	p.G125R	NM_020200.5	NP_064585.1	Q9NRG1	PRDC1_HUMAN			4	401	-			125					B7Z1Z3|Q53HA7|Q59EL9|Q5VV18|Q5VV20	Missense_Mutation	SNP	ENST00000320152.6	37	c.373G>A	CCDS7145.1	.	.	.	.	.	.	.	.	.	.	C	19.76	3.887726	0.72410	.	.	ENSG00000099256	ENST00000320152;ENST00000358336;ENST00000376378	D;D	0.99319	-5.74;-5.74	5.7	4.8	0.61643	Phosphoribosyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.99121	0.9697	M	0.73753	2.245	0.80722	D	1	D;D	0.89917	0.991;1.0	P;D	0.81914	0.5;0.995	D	0.99421	1.0933	10	0.26408	T	0.33	.	10.6276	0.45516	0.0:0.9119:0.0:0.0881	.	125;125	Q9NRG1-2;Q9NRG1	.;PRDC1_HUMAN	R	125	ENSP00000318602:G125R;ENSP00000365558:G125R	ENSP00000318602:G125R	G	-	1	0	PRTFDC1	25200965	0.987000	0.35691	0.956000	0.39512	0.875000	0.50365	2.977000	0.49297	1.414000	0.47017	0.655000	0.94253	GGA		0.453	PRTFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047243.2	NM_020200		11	314	0	0	0	1	0	11	314				
PROSER1	80209	broad.mit.edu	37	13	39586310	39586310	+	Silent	SNP	C	C	T	rs370484502		TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr13:39586310C>T	ENST00000352251.3	-	12	3455	c.2622G>A	c.(2620-2622)ccG>ccA	p.P874P	PROSER1_ENST00000350125.3_Silent_p.P852P|PROSER1_ENST00000484434.3_5'UTR	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	874								p.P874P(1)									CAGGGATACCCGGGAGGGACA	0.453																																						ENST00000352251.3																			1	Substitution - coding silent(1)	p.P874P(1)	lung(1)								c.(2620-2622)ccG>ccA		proline and serine rich 1		C	,	0,4406		0,0,2203	145.0	163.0	157.0		2622,2556	-5.5	0.9	13		157	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	PROSER1	NM_025138.3,NM_170719.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	874/945,852/923	39586310	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80209							g.chr13:39586310C>T	AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 23"""	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.2622G>A	13.37:g.39586310C>T						PROSER1_ENST00000484434.2_5'UTR|PROSER1_ENST00000350125.3_Silent_p.P852P	p.P874P	NM_025138.3	NP_079414.3	Q86XN7	CM023_HUMAN			12	3455	-			874					A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Silent	SNP	ENST00000352251.3	37	c.2622G>A	CCDS9368.2																																																																																				0.453	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044607.5	NM_025138		18	278	0	0	0	1	0	18	278				
SLC12A7	10723	broad.mit.edu	37	5	1065403	1065403	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr5:1065403A>G	ENST00000264930.5	-	18	2475	c.2432T>C	c.(2431-2433)tTt>tCt	p.F811S	MIR4635_ENST00000583759.1_RNA	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	811					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CCTACCCACAAAGTTCTTCCA	0.642																																						ENST00000264930.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32						c.(2431-2433)tTt>tCt		solute carrier family 12 (potassium/chloride transporter), member 7	Potassium Chloride(DB00761)						59.0	60.0	60.0					5																	1065403		2203	4300	6503	SO:0001583	missense	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1065403A>G	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.2432T>C	5.37:g.1065403A>G	ENSP00000264930:p.Phe811Ser						p.F811S	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		18	2475	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		811					A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	37	c.2432T>C	CCDS34129.1	.	.	.	.	.	.	.	.	.	.	a	18.83	3.707906	0.68615	.	.	ENSG00000113504	ENST00000264930	D	0.94232	-3.38	4.49	4.49	0.54785	.	0.000000	0.85682	D	0.000000	D	0.94670	0.8281	M	0.90977	3.165	0.80722	D	1	D	0.53312	0.959	P	0.44732	0.459	D	0.95191	0.8308	10	0.87932	D	0	.	12.5865	0.56421	1.0:0.0:0.0:0.0	.	811	Q9Y666	S12A7_HUMAN	S	811	ENSP00000264930:F811S	ENSP00000264930:F811S	F	-	2	0	SLC12A7	1118403	1.000000	0.71417	0.896000	0.35187	0.760000	0.43138	8.167000	0.89668	1.669000	0.50854	0.383000	0.25322	TTT		0.642	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		5	94	0	0	0	1	0	5	94				
ANKRD36BP2	645784	broad.mit.edu	37	2	89084114	89084114	+	RNA	SNP	G	G	A			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr2:89084114G>A	ENST00000393525.3	+	0	576									ankyrin repeat domain 36B pseudogene 2																		TTGCTTTTCAGTGTCTTCTCA	0.313																																						ENST00000393525.3																			0																																																			0							g.chr2:89084114G>A			2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89084114G>A														0	576	+									RNA	SNP	ENST00000393525.3	37																																																																																						0.313	ANKRD36BP2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000323523.1			7	62	0	0	0	1	0	7	62				
TTC3	7267	broad.mit.edu	37	21	38511002	38511002	+	Silent	SNP	A	A	C			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr21:38511002A>C	ENST00000399017.2	+	19	4394	c.1647A>C	c.(1645-1647)atA>atC	p.I549I	TTC3_ENST00000354749.2_Silent_p.I549I|TTC3_ENST00000540756.1_Silent_p.I239I|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Silent_p.I549I	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	549					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TCCTTGGAATAGGACAGCCTG	0.323																																					Ovarian(38;194 1649 35661)	ENST00000399017.2																			0				breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75						c.(1645-1647)atA>atC		tetratricopeptide repeat domain 3							168.0	156.0	160.0					21																	38511002		2203	4300	6503	SO:0001819	synonymous_variant	7267				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr21:38511002A>C	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.1647A>C	21.37:g.38511002A>C						TTC3_ENST00000355666.1_Silent_p.I549I|TTC3_ENST00000354749.2_Silent_p.I549I|TTC3_ENST00000540756.1_Silent_p.I239I|TTC3_ENST00000479930.1_3'UTR	p.I549I	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN			19	4394	+		Myeloproliferative disorder(46;0.0412)	549					A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Silent	SNP	ENST00000399017.2	37	c.1647A>C	CCDS13651.1																																																																																				0.323	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			5	120	0	0	0	1	0	5	120				
FDXACB1	91893	broad.mit.edu	37	11	111745901	111745901	+	Silent	SNP	A	A	G			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr11:111745901A>G	ENST00000260257.4	-	5	1667	c.1620T>C	c.(1618-1620)gtT>gtC	p.V540V	ALG9_ENST00000524880.1_Intron|FDXACB1_ENST00000542429.1_Silent_p.V391V|ALG9_ENST00000527377.1_Intron	NM_138378.2	NP_612387.1	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain containing 1	540	FDX-ACB. {ECO:0000255|PROSITE- ProRule:PRU00778}.				phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA processing (GO:0008033)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)			endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						TCCAAAAACTAACATCATGCA	0.383																																						ENST00000260257.4																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						c.(1618-1620)gtT>gtC		ferredoxin-fold anticodon binding domain containing 1							58.0	57.0	57.0					11																	111745901		1870	4100	5970	SO:0001819	synonymous_variant	91893				phenylalanyl-tRNA aminoacylation|tRNA processing		ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding	g.chr11:111745901A>G		CCDS44729.1	11q23.1	2011-04-15			ENSG00000255561	ENSG00000255561			25110	protein-coding gene	gene with protein product	"""hypothetical protein BC006136"""						Standard	NR_038364		Approved	LOC91893, hCG_2033039	uc001pmc.4	Q9BRP7	OTTHUMG00000166795	ENST00000260257.4:c.1620T>C	11.37:g.111745901A>G						FDXACB1_ENST00000542429.1_Silent_p.V391V|ALG9_ENST00000527377.1_Intron|ALG9_ENST00000524880.1_Intron	p.V540V	NM_138378.2	NP_612387.1	Q9BRP7	FDXA1_HUMAN			5	1667	-			540			FDX-ACB.		A0PJW7|B4DUU2	Silent	SNP	ENST00000260257.4	37	c.1620T>C	CCDS44729.1																																																																																				0.383	FDXACB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391497.1	NM_138378		3	47	0	0	0	1	0	3	47				
GAD2	2572	broad.mit.edu	37	10	26505785	26505785	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr10:26505785G>A	ENST00000376261.3	+	1	550	c.47G>A	c.(46-48)gGc>gAc	p.G16D	GAD2_ENST00000259271.3_Missense_Mutation_p.G16D|GAD2_ENST00000376248.1_5'Flank	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	16					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCGGAAGATGGCTCTGGGGAT	0.637																																						ENST00000376261.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(46-48)gGc>gAc		glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	L-Glutamic Acid(DB00142)						63.0	70.0	68.0					10																	26505785		2203	4300	6503	SO:0001583	missense	2572				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr10:26505785G>A	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"""glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"""			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.47G>A	10.37:g.26505785G>A	ENSP00000365437:p.Gly16Asp					GAD2_ENST00000259271.3_Missense_Mutation_p.G16D	p.G16D	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN			1	550	+			16					Q9UD87	Missense_Mutation	SNP	ENST00000376261.3	37	c.47G>A	CCDS7149.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698004	0.68386	.	.	ENSG00000136750	ENST00000376261;ENST00000259271;ENST00000428517	T;T;T	0.61510	0.1;0.1;0.1	4.92	4.92	0.64577	.	0.075107	0.52532	D	0.000066	T	0.68183	0.2973	L	0.38531	1.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.992	T	0.70400	-0.4882	10	0.54805	T	0.06	-16.0227	16.9203	0.86162	0.0:0.0:1.0:0.0	.	16;16	Q4G154;Q05329	.;DCE2_HUMAN	D	16	ENSP00000365437:G16D;ENSP00000259271:G16D;ENSP00000390434:G16D	ENSP00000259271:G16D	G	+	2	0	GAD2	26545791	1.000000	0.71417	1.000000	0.80357	0.299000	0.27559	5.787000	0.69013	2.282000	0.76494	0.455000	0.32223	GGC		0.637	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		7	115	0	0	0	1	0	7	115				
GNRHR	2798	broad.mit.edu	37	4	68619905	68619905	+	Missense_Mutation	SNP	G	G	A	rs150422225		TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr4:68619905G>A	ENST00000226413.4	-	1	173	c.149C>T	c.(148-150)gCg>gTg	p.A50V	GNRHR_ENST00000420975.2_Missense_Mutation_p.A50V|UBA6-AS1_ENST00000500538.2_RNA|UBA6-AS1_ENST00000502758.1_RNA	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	50					cellular response to gonadotropin-releasing hormone (GO:0097211)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gonadotropin-releasing hormone receptor activity (GO:0004968)			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Buserelin(DB06719)|Cetrorelix(DB00050)|Danazol(DB01406)|Degarelix(DB06699)|Gonadorelin(DB00644)|Goserelin(DB00014)|Leuprolide(DB00007)|Nafarelin(DB00666)	ATTAAAGGTCGCAGAGAGCAG	0.443																																						ENST00000226413.4																			0				endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13						c.(148-150)gCg>gTg		gonadotropin-releasing hormone receptor	Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)	G	VAL/ALA,VAL/ALA	0,4406		0,0,2203	79.0	84.0	82.0		149,149	5.3	0.4	4	dbSNP_134	82	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	GNRHR	NM_000406.2,NM_001012763.1	64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	50/329,50/250	68619905	1,13005	2203	4300	6503	SO:0001583	missense	0				multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity	g.chr4:68619905G>A		CCDS3517.1, CCDS47064.1	4q21.2	2012-08-08			ENSG00000109163	ENSG00000109163		"""GPCR / Class A : Gonadotropin-releasing hormone receptors"""	4421	protein-coding gene	gene with protein product		138850		GRHR		8386108	Standard	NM_000406		Approved	LHRHR	uc003hdn.3	P30968	OTTHUMG00000129302	ENST00000226413.4:c.149C>T	4.37:g.68619905G>A	ENSP00000226413:p.Ala50Val					RP11-453E17.1_ENST00000500538.2_RNA|GNRHR_ENST00000420975.2_Missense_Mutation_p.A50V|RP11-453E17.1_ENST00000502758.1_RNA	p.A50V	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN			1	173	-			50					O75793|Q14D13|Q92644	Missense_Mutation	SNP	ENST00000226413.4	37	c.149C>T	CCDS3517.1	.	.	.	.	.	.	.	.	.	.	G	8.665	0.901562	0.17760	0.0	1.16E-4	ENSG00000109163	ENST00000226413;ENST00000420975	T;T	0.32272	1.46;1.46	6.17	5.34	0.76211	.	0.084539	0.51477	D	0.000085	T	0.16811	0.0404	N	0.08118	0	0.30657	N	0.754812	B;B	0.18610	0.014;0.029	B;B	0.14023	0.004;0.01	T	0.09640	-1.0665	10	0.23891	T	0.37	-10.6622	13.3312	0.60488	0.0754:0.0:0.9246:0.0	.	50;50	P30968;P30968-2	GNRHR_HUMAN;.	V	50	ENSP00000226413:A50V;ENSP00000397561:A50V	ENSP00000226413:A50V	A	-	2	0	GNRHR	68302500	0.999000	0.42202	0.402000	0.26371	0.058000	0.15608	6.949000	0.75971	1.635000	0.50512	0.655000	0.94253	GCG		0.443	GNRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251432.2			28	106	0	0	0	1	0	28	106				
ABCC11	85320	broad.mit.edu	37	16	48218517	48218517	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr16:48218517G>A	ENST00000394747.1	-	22	3441	c.3092C>T	c.(3091-3093)gCg>gTg	p.A1031V	ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000394748.1_Missense_Mutation_p.A1031V|ABCC11_ENST00000353782.5_Missense_Mutation_p.A1031V|ABCC11_ENST00000356608.2_Missense_Mutation_p.A1031V	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1031	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	GTTATTCTGCGCATCAGTCAG	0.507																																						ENST00000394747.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83						c.(3091-3093)gCg>gTg		ATP-binding cassette, sub-family C (CFTR/MRP), member 11							166.0	140.0	149.0					16																	48218517		2201	4300	6501	SO:0001583	missense	85320					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48218517G>A	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.3092C>T	16.37:g.48218517G>A	ENSP00000378230:p.Ala1031Val					ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000356608.2_Missense_Mutation_p.A1031V|ABCC11_ENST00000394748.1_Missense_Mutation_p.A1031V|ABCC11_ENST00000353782.5_Missense_Mutation_p.A1031V	p.A1031V	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN			22	3441	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	1031			ABC transmembrane type-1 2.		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	c.3092C>T	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.194100	0.38707	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747	D;D;D;D	0.89485	-2.52;-2.52;-2.52;-2.52	5.48	-10.6	0.00265	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	2.083830	0.02344	N	0.075165	T	0.77018	0.4069	L	0.27053	0.805	0.09310	N	1	B;B	0.13594	0.008;0.004	B;B	0.17098	0.003;0.017	T	0.61023	-0.7146	10	0.27785	T	0.31	10.331	5.4931	0.16787	0.4076:0.0:0.1518:0.4405	.	1031;1031	Q96J66-2;Q96J66	.;ABCCB_HUMAN	V	1031	ENSP00000311326:A1031V;ENSP00000349017:A1031V;ENSP00000378231:A1031V;ENSP00000378230:A1031V	ENSP00000311326:A1031V	A	-	2	0	ABCC11	46776018	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.571000	0.02138	-1.447000	0.01943	-0.253000	0.11424	GCG		0.507	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		6	106	0	0	0	1	0	6	106				
MYO3A	53904	broad.mit.edu	37	10	26455034	26455034	+	Missense_Mutation	SNP	G	G	A	rs368350598		TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr10:26455034G>A	ENST00000265944.5	+	27	3204	c.3038G>A	c.(3037-3039)cGc>cAc	p.R1013H	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1013	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R1013H(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GAGGAGCCCCGCATGAGCCCT	0.448																																						ENST00000265944.5																			1	Substitution - Missense(1)	p.R1013H(1)	urinary_tract(1)	NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(3037-3039)cGc>cAc		myosin IIIA							159.0	171.0	167.0					10																	26455034		2203	4300	6503	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26455034G>A	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.3038G>A	10.37:g.26455034G>A	ENSP00000265944:p.Arg1013His					MYO3A_ENST00000543632.1_Intron	p.R1013H	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			27	3204	+			1013			Myosin head-like.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.3038G>A	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	g	12.63	1.996356	0.35226	.	.	ENSG00000095777	ENST00000265944	D	0.87334	-2.24	6.07	4.24	0.50183	Myosin head, motor domain (2);	0.258100	0.45361	D	0.000374	T	0.76758	0.4032	L	0.41492	1.28	0.80722	D	1	P	0.37500	0.597	B	0.20767	0.031	T	0.72130	-0.4383	10	0.18276	T	0.48	.	12.5112	0.56007	0.0:0.8182:0.1185:0.0633	.	1013	Q8NEV4	MYO3A_HUMAN	H	1013	ENSP00000265944:R1013H	ENSP00000265944:R1013H	R	+	2	0	MYO3A	26495040	1.000000	0.71417	0.702000	0.30337	0.166000	0.22503	4.517000	0.60503	0.915000	0.36847	-0.134000	0.14843	CGC		0.448	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		5	273	0	0	0	1	0	5	273				
FMNL3	91010	broad.mit.edu	37	12	50041125	50041125	+	Silent	SNP	G	G	T			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr12:50041125G>T	ENST00000293590.5	-	24	3038	c.2805C>A	c.(2803-2805)cgC>cgA	p.R935R	FMNL3_ENST00000550488.1_Silent_p.R934R|FMNL3_ENST00000335154.5_Silent_p.R935R|FMNL3_ENST00000352151.5_Silent_p.R884R			Q8IVF7	FMNL3_HUMAN	formin-like 3	935	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						CCTGCTTCTTGCGGGCTTCAT	0.597																																						ENST00000335154.5																			0				breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						c.(2803-2805)cgC>cgA		formin-like 3							88.0	92.0	91.0					12																	50041125		2011	4173	6184	SO:0001819	synonymous_variant	91010				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr12:50041125G>T	AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.2805C>A	12.37:g.50041125G>T						FMNL3_ENST00000550488.1_Silent_p.R934R|FMNL3_ENST00000352151.5_Silent_p.R884R|FMNL3_ENST00000293590.5_Silent_p.R935R	p.R935R	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN			24	3038	-			935			FH2.		B0JZA7|Q6ZRJ1	Silent	SNP	ENST00000293590.5	37	c.2805C>A																																																																																					0.597	FMNL3-201	KNOWN	basic	protein_coding	protein_coding		NM_175736		8	114	1	0	0.00448238	1	0.00468308	8	114				
ZAN	7455	broad.mit.edu	37	7	100363150	100363150	+	RNA	SNP	C	C	T			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr7:100363150C>T	ENST00000348028.3	+	0	4608				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AGTGTGGGTGCCTCCACCCTG	0.637																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							30.0	33.0	32.0					7																	100363150		2093	4222	6315			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100363150C>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100363150C>T						ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	4591	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37																																																																																						0.637	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		4	16	0	0	0	1	0	4	16				
PRG4	10216	broad.mit.edu	37	1	186275982	186275982	+	Silent	SNP	C	C	T			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr1:186275982C>T	ENST00000445192.2	+	7	1176	c.1131C>T	c.(1129-1131)acC>acT	p.T377T	PRG4_ENST00000367485.4_Silent_p.T284T|PRG4_ENST00000367483.4_Silent_p.T336T|PRG4_ENST00000367484.3_Silent_p.T336T|PRG4_ENST00000367486.3_Silent_p.T334T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	377	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACCCCCAAGGAGC	0.637																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1129-1131)acC>acT		proteoglycan 4							171.0	164.0	166.0					1																	186275982		2203	4300	6503	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186275982C>T	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1131C>T	1.37:g.186275982C>T						PRG4_ENST00000367483.4_Silent_p.T336T|PRG4_ENST00000367485.4_Silent_p.T284T|PRG4_ENST00000367484.3_Silent_p.T336T|PRG4_ENST00000367486.3_Silent_p.T334T	p.T377T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1176	+			377			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.1131C>T	CCDS1369.1																																																																																				0.637	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		5	231	0	0	0	1	0	5	231				
PYGL	5836	broad.mit.edu	37	14	51372228	51372228	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr14:51372228G>A	ENST00000216392.7	-	20	2758	c.2426C>T	c.(2425-2427)tCg>tTg	p.S809L	PYGL_ENST00000544180.2_Missense_Mutation_p.S775L|PYGL_ENST00000532462.1_Intron	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	809					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	GAATTTCCCCGAGGCAGCTAT	0.423																																						ENST00000216392.7																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25						c.(2425-2427)tCg>tTg		phosphorylase, glycogen, liver	Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)						157.0	149.0	152.0					14																	51372228		2203	4300	6503	SO:0001583	missense	5836				glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding	g.chr14:51372228G>A		CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"""Glycogen phosphorylases"""	9725	protein-coding gene	gene with protein product	"""Hers disease"", ""glycogen storage disease type VI"", ""glycogen phosphorylase, liver form"""	613741	"""phosphorylase, glycogen; liver"""			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.2426C>T	14.37:g.51372228G>A	ENSP00000216392:p.Ser809Leu					PYGL_ENST00000544180.2_Missense_Mutation_p.S775L|PYGL_ENST00000532462.1_Intron	p.S809L	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN			20	2758	-	all_epithelial(31;0.00825)|Breast(41;0.148)		809					A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Missense_Mutation	SNP	ENST00000216392.7	37	c.2426C>T	CCDS32080.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.118057	0.77323	.	.	ENSG00000100504	ENST00000544180;ENST00000216392	D;D	0.93133	-3.17;-3.17	6.07	5.17	0.71159	.	0.291575	0.38897	N	0.001522	D	0.95629	0.8579	M	0.80028	2.48	0.48087	D	0.999586	B;B;D	0.55385	0.086;0.378;0.971	B;B;P	0.55713	0.057;0.362;0.782	D	0.95440	0.8524	10	0.51188	T	0.08	-2.3533	15.277	0.73750	0.0:0.0:0.8586:0.1414	.	775;775;809	F5H816;B4DUB7;P06737	.;.;PYGL_HUMAN	L	775;809	ENSP00000443787:S775L;ENSP00000216392:S809L	ENSP00000216392:S809L	S	-	2	0	PYGL	50441978	1.000000	0.71417	0.867000	0.34043	0.572000	0.35998	9.869000	0.99810	1.534000	0.49203	0.655000	0.94253	TCG		0.423	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	NM_002863		13	108	0	0	0	1	0	13	108				
MCHR2	84539	broad.mit.edu	37	6	100390958	100390958	+	Missense_Mutation	SNP	G	G	A	rs267600747		TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr6:100390958G>A	ENST00000281806.2	-	4	768	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W	MCHR2_ENST00000369212.2_Missense_Mutation_p.R152W	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	152			R -> Q (no changes in receptor binding or functional signaling; dbSNP:rs62434070). {ECO:0000269|PubMed:15340116}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		AAATTGATCCGGATGGTCTTG	0.473																																						ENST00000281806.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39						c.(454-456)Cgg>Tgg		melanin-concentrating hormone receptor 2							147.0	137.0	141.0					6																	100390958		2203	4300	6503	SO:0001583	missense	84539					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:100390958G>A	AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"""GPCR / Class A : MCH receptors"""	20867	protein-coding gene	gene with protein product		606111	"""G protein-coupled receptor 145"""	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.454C>T	6.37:g.100390958G>A	ENSP00000281806:p.Arg152Trp					MCHR2_ENST00000445970.1_Missense_Mutation_p.R152W|MCHR2_ENST00000369212.1_Missense_Mutation_p.R152W	p.R152W	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0429)	4	768	-		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)	152		R -> Q (no changes in receptor binding or functional signaling).			B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Missense_Mutation	SNP	ENST00000281806.2	37	c.454C>T	CCDS5044.1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.890903	0.33348	.	.	ENSG00000152034	ENST00000445970;ENST00000281806;ENST00000369212	T;T;T	0.72282	-0.64;-0.64;-0.64	4.95	2.17	0.27698	GPCR, rhodopsin-like superfamily (1);	0.385573	0.22790	N	0.055620	T	0.45458	0.1343	L	0.59912	1.85	0.22656	N	0.998884	B	0.16603	0.018	B	0.13407	0.009	T	0.46884	-0.9159	10	0.51188	T	0.08	.	9.5126	0.39087	0.2389:0.0:0.7611:0.0	.	152	Q969V1	MCHR2_HUMAN	W	152	ENSP00000403490:R152W;ENSP00000281806:R152W;ENSP00000358214:R152W	ENSP00000281806:R152W	R	-	1	2	MCHR2	100497679	0.214000	0.23563	0.687000	0.30102	0.878000	0.50629	0.214000	0.17541	0.144000	0.18951	0.655000	0.94253	CGG		0.473	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041620.2	NM_032503		9	133	0	0	0	1	0	9	133				
PLSCR5	389158	broad.mit.edu	37	3	146311885	146311885	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr3:146311885T>C	ENST00000443512.1	-	4	1278	c.275A>G	c.(274-276)aAc>aGc	p.N92S	PLSCR5_ENST00000492200.1_Missense_Mutation_p.N92S|PLSCR5_ENST00000482567.1_Missense_Mutation_p.N80S	NM_001085420.1	NP_001078889.1	A0PG75	PLS5_HUMAN	phospholipid scramblase family, member 5	92										endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						TCCCAAGCTGTTTTTAATCTC	0.348																																						ENST00000443512.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						c.(274-276)aAc>aGc		phospholipid scramblase family, member 5							116.0	113.0	114.0					3																	146311885		1832	4087	5919	SO:0001583	missense	389158							g.chr3:146311885T>C	AY436642	CCDS46931.1	3q24	2004-06-28			ENSG00000231213	ENSG00000231213			19952	protein-coding gene	gene with protein product							Standard	NM_001085420		Approved		uc010hvc.3	A0PG75	OTTHUMG00000159437	ENST00000443512.1:c.275A>G	3.37:g.146311885T>C	ENSP00000390111:p.Asn92Ser					PLSCR5_ENST00000492200.1_Missense_Mutation_p.N92S|PLSCR5_ENST00000482567.1_Missense_Mutation_p.N80S	p.N92S	NM_001085420.1	NP_001078889.1	A0PG75	PLS5_HUMAN			4	1278	-			92					B2RXK5	Missense_Mutation	SNP	ENST00000443512.1	37	c.275A>G	CCDS46931.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.133393	0.77662	.	.	ENSG00000231213	ENST00000492200;ENST00000482567;ENST00000443512	T;T;T	0.26067	1.76;1.76;1.76	5.65	5.65	0.86999	.	.	.	.	.	T	0.59998	0.2235	M	0.91300	3.195	0.47374	D	0.999404	D;D	0.89917	0.996;1.0	D;D	0.83275	0.936;0.996	T	0.67348	-0.5693	9	0.45353	T	0.12	-18.9248	15.9421	0.79763	0.0:0.0:0.0:1.0	.	80;92	B2RXK5;A0PG75	.;PLS5_HUMAN	S	92;80;92	ENSP00000417184:N92S;ENSP00000418626:N80S;ENSP00000390111:N92S	ENSP00000390111:N92S	N	-	2	0	PLSCR5	147794575	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	7.698000	0.84413	2.161000	0.67846	0.524000	0.50904	AAC		0.348	PLSCR5-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355365.1	XM_371670		25	117	0	0	0	1	0	25	117				
TUBBP5	643224	broad.mit.edu	37	9	141070783	141070783	+	RNA	SNP	G	G	C	rs28412015	byFrequency	TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr9:141070783G>C	ENST00000503395.1	+	0	1558									tubulin, beta pseudogene 5																		AGGGTTTCCAGCTGACCCACT	0.592													.|||	146	0.0291534	0.1006	0.0086	5008	,	,		9835	0.0		0.001	False		,,,				2504	0.0061					ENST00000503395.1																			0																																																			0							g.chr9:141070783G>C	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141070783G>C														0	1558	+									RNA	SNP	ENST00000503395.1	37																																																																																						0.592	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156		6	22	0	0	0	1	0	6	22				
CCDC144NL	339184	broad.mit.edu	37	17	20799125	20799125	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr17:20799125T>C	ENST00000327925.5	-	1	328	c.209A>G	c.(208-210)gAc>gGc	p.D70G	RP11-344E13.3_ENST00000577537.1_RNA|RNU6-1178P_ENST00000516674.1_RNA|RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000582324.1_RNA|RP11-344E13.3_ENST00000417232.2_RNA|RP11-344E13.3_ENST00000583962.1_RNA	NM_001004306.1	NP_001004306.1	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family, N-terminal like	70										large_intestine(3)|lung(3)|skin(1)	7						CTGGAGCTGGTCTAAGGCGCC	0.642																																						ENST00000327925.5																			0				large_intestine(3)|lung(3)|skin(1)	7						c.(208-210)gAc>gGc		coiled-coil domain containing 144 family, N-terminal like							72.0	85.0	81.0					17																	20799125		2203	4298	6501	SO:0001583	missense	339184							g.chr17:20799125T>C		CCDS32591.1	17p11.2	2009-01-15			ENSG00000205212	ENSG00000205212			33735	protein-coding gene	gene with protein product							Standard	NM_001004306		Approved	MGC87631	uc002gyf.3	Q6NUI1	OTTHUMG00000132271	ENST00000327925.5:c.209A>G	17.37:g.20799125T>C	ENSP00000328054:p.Asp70Gly					RP11-344E13.3_ENST00000417232.2_RNA|RP11-344E13.3_ENST00000577537.1_RNA|RP11-344E13.3_ENST00000582324.1_RNA|RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000439794.2_RNA	p.D70G	NM_001004306.1	NP_001004306.1	Q6NUI1	C144L_HUMAN			1	328	-			70						Missense_Mutation	SNP	ENST00000327925.5	37	c.209A>G	CCDS32591.1	.	.	.	.	.	.	.	.	.	.	t	8.737	0.917938	0.17982	.	.	ENSG00000205212	ENST00000327925	T	0.26373	1.74	.	.	.	.	.	.	.	.	T	0.22551	0.0544	N	0.14661	0.345	0.09310	N	1	D	0.60575	0.988	P	0.62885	0.908	T	0.14868	-1.0457	7	0.30078	T	0.28	.	.	.	.	.	70	Q6NUI1	C144L_HUMAN	G	70	ENSP00000328054:D70G	ENSP00000328054:D70G	D	-	2	0	CCDC144NL	20739717	0.102000	0.21896	0.000000	0.03702	0.071000	0.16799	0.163000	0.16520	-0.762000	0.04664	0.130000	0.15844	GAC		0.642	CCDC144NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255361.2	NM_001004306		7	191	0	0	0	1	0	7	191				
SCN5A	6331	broad.mit.edu	37	3	38592968	38592968	+	Missense_Mutation	SNP	C	C	T	rs199473286		TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr3:38592968C>T	ENST00000333535.4	-	28	5044	c.4895G>A	c.(4894-4896)cGc>cAc	p.R1632H	SCN5A_ENST00000443581.1_Missense_Mutation_p.R1631H|SCN5A_ENST00000425664.1_Missense_Mutation_p.R1614H|SCN5A_ENST00000450102.2_Missense_Mutation_p.R1578H|SCN5A_ENST00000449557.2_Missense_Mutation_p.R1578H|SCN5A_ENST00000451551.2_Missense_Mutation_p.R1578H|SCN5A_ENST00000413689.1_Missense_Mutation_p.R1632H|SCN5A_ENST00000423572.2_Missense_Mutation_p.R1631H|SCN5A_ENST00000414099.2_Missense_Mutation_p.R1614H|SCN5A_ENST00000455624.2_Missense_Mutation_p.R1599H|SCN5A_ENST00000464652.1_5'Flank			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1632					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TCTGAGGATGCGGCCTATTCG	0.592																																						ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	GRCh37	CM033023	SCN5A	M		c.(4894-4896)cGc>cAc		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						97.0	99.0	98.0					3																	38592968		2203	4300	6503	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38592968C>T	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.4895G>A	3.37:g.38592968C>T	ENSP00000328968:p.Arg1632His					SCN5A_ENST00000443581.1_Missense_Mutation_p.R1631H|SCN5A_ENST00000423572.2_Missense_Mutation_p.R1631H|SCN5A_ENST00000414099.2_Missense_Mutation_p.R1614H|SCN5A_ENST00000451551.2_Missense_Mutation_p.R1578H|SCN5A_ENST00000333535.4_Missense_Mutation_p.R1632H|SCN5A_ENST00000455624.2_Missense_Mutation_p.R1599H|SCN5A_ENST00000450102.2_Missense_Mutation_p.R1578H|SCN5A_ENST00000449557.2_Missense_Mutation_p.R1578H|SCN5A_ENST00000425664.1_Missense_Mutation_p.R1614H	p.R1632H	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	28	5088	-	Medulloblastoma(35;0.163)		1632					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.4895G>A	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.498866	0.85069	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.99591	-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24	4.54	4.54	0.55810	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99792	0.9912	H	0.97315	3.98	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;1.0;0.987	D;D;D;D;D;P	0.87578	0.997;0.998;0.997;0.948;0.994;0.728	D	0.96728	0.9537	10	0.87932	D	0	.	17.4903	0.87701	0.0:1.0:0.0:0.0	.	1578;1599;1614;1632;1631;1632	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	H	1614;1631;1632;1578;1631;1614;1632;1599;1578;1578	ENSP00000398962:R1614H;ENSP00000398266:R1631H;ENSP00000410257:R1632H;ENSP00000388797:R1578H;ENSP00000397915:R1631H;ENSP00000416634:R1614H;ENSP00000328968:R1632H;ENSP00000399524:R1599H;ENSP00000403355:R1578H;ENSP00000413996:R1578H	ENSP00000328968:R1632H	R	-	2	0	SCN5A	38567972	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.835000	0.69368	2.353000	0.79882	0.561000	0.74099	CGC		0.592	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		4	159	0	0	0	1	0	4	159				
POLQ	10721	broad.mit.edu	37	3	121192246	121192246	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr3:121192246A>T	ENST00000264233.5	-	21	6622	c.6494T>A	c.(6493-6495)aTt>aAt	p.I2165N		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2165					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TCCATTGTCAATCCCTCTTCT	0.443								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	ENST00000264233.5																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(6493-6495)aTt>aAt	DNA polymerases (catalytic subunits)	polymerase (DNA directed), theta							219.0	210.0	213.0					3																	121192246		2203	4300	6503	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121192246A>T	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.6494T>A	3.37:g.121192246A>T	ENSP00000264233:p.Ile2165Asn						p.I2165N	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	21	6622	-			2165					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.6494T>A	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	A	2.186	-0.386540	0.04966	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.48201	0.82	5.89	-8.89	0.00785	.	0.935133	0.09074	N	0.852378	T	0.10937	0.0267	N	0.00841	-1.15	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.19647	-1.0299	10	0.22706	T	0.39	.	2.5782	0.04812	0.3753:0.1145:0.3587:0.1515	.	2165;1337	O75417;O75417-2	DPOLQ_HUMAN;.	N	1788;2165;2301	ENSP00000264233:I2165N	ENSP00000264233:I2165N	I	-	2	0	POLQ	122674936	0.000000	0.05858	0.236000	0.24074	0.947000	0.59692	-1.160000	0.03147	-0.795000	0.04462	-0.360000	0.07572	ATT		0.443	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		20	231	0	0	0	1	0	20	231				
CDH24	64403	broad.mit.edu	37	14	23524544	23524544	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr14:23524544G>A	ENST00000267383.5	-	2	312	c.220C>T	c.(220-222)Cgg>Tgg	p.R74W	CDH24_ENST00000554034.1_Missense_Mutation_p.R74W|CDH24_ENST00000397359.3_Missense_Mutation_p.R74W|CDH24_ENST00000487137.2_Missense_Mutation_p.R74W			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	74	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		CCCTCTCCCCGGTCAACATCC	0.557											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000397359.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						c.(220-222)Cgg>Tgg		cadherin 24, type 2							45.0	50.0	49.0					14																	23524544		2203	4300	6503	SO:0001583	missense	64403				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding	g.chr14:23524544G>A	AL137477	CCDS9585.1, CCDS9586.1	14q11.2	2010-08-20	2009-11-20		ENSG00000139880	ENSG00000139880		"""Cadherins / Major cadherins"""	14265	protein-coding gene	gene with protein product			"""cadherin-like 24"""			12734196	Standard	NM_022478		Approved	CDH11L	uc001wil.3	Q86UP0	OTTHUMG00000028715	ENST00000267383.5:c.220C>T	14.37:g.23524544G>A	ENSP00000267383:p.Arg74Trp		OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	764	CDH24_ENST00000554034.1_Missense_Mutation_p.R74W|CDH24_ENST00000267383.5_Missense_Mutation_p.R74W|CDH24_ENST00000487137.2_Missense_Mutation_p.R74W	p.R74W	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	3	479	-	all_cancers(95;3.3e-05)		74			Cadherin 1.		D3DS44|Q86UP1|Q9NT84	Missense_Mutation	SNP	ENST00000267383.5	37	c.220C>T	CCDS9585.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.791284	0.50102	.	.	ENSG00000139880	ENST00000397359;ENST00000487137;ENST00000422751;ENST00000554034;ENST00000267383	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	3.89	-0.95	0.10372	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.63768	0.2539	M	0.72118	2.19	0.47065	D	0.999305	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.992;0.987;0.997	T	0.64546	-0.6382	10	0.87932	D	0	.	13.5074	0.61491	0.0:0.0:0.436:0.564	.	74;74;74	Q86UP0-2;Q96LQ7;Q86UP0	.;.;CAD24_HUMAN	W	74	ENSP00000380517:R74W;ENSP00000434821:R74W;ENSP00000452493:R74W;ENSP00000267383:R74W	ENSP00000267383:R74W	R	-	1	2	CDH24	22594384	0.000000	0.05858	0.994000	0.49952	0.997000	0.91878	-0.373000	0.07494	-0.490000	0.06707	0.462000	0.41574	CGG		0.557	CDH24-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257241.2	NM_022478		5	75	0	0	0	1	0	5	75				
MUC17	140453	broad.mit.edu	37	7	100677621	100677621	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr7:100677621C>A	ENST00000306151.4	+	3	2988	c.2924C>A	c.(2923-2925)aCc>aAc	p.T975N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	975	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGCATACCAACCTCGACTCCT	0.502																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(2923-2925)aCc>aAc		mucin 17, cell surface associated							355.0	331.0	339.0					7																	100677621		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100677621C>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.2924C>A	7.37:g.100677621C>A	ENSP00000302716:p.Thr975Asn						p.T975N	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	2988	+	Lung NSC(181;0.136)|all_lung(186;0.182)		975			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.2924C>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	0.760	-0.769784	0.02974	.	.	ENSG00000169876	ENST00000306151	T	0.02472	4.28	0.73	-0.301	0.12800	.	.	.	.	.	T	0.01092	0.0036	N	0.08118	0	0.09310	N	1	P	0.38827	0.649	B	0.18871	0.023	T	0.48990	-0.8985	9	0.33141	T	0.24	.	3.7676	0.08629	0.0:0.4437:0.0:0.5563	.	975	Q685J3	MUC17_HUMAN	N	975	ENSP00000302716:T975N	ENSP00000302716:T975N	T	+	2	0	MUC17	100464341	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.012000	0.13287	-0.110000	0.12022	0.134000	0.15878	ACC		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		29	972	1	0	1.55469e-16	1	1.72744e-16	29	972				
LINC01250	101927554	broad.mit.edu	37	2	2910722	2910723	+	lincRNA	INS	-	-	T	rs373675312		TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr2:2910722_2910723insT	ENST00000457478.1	-	0	594																											tccaccccctctccccagccca	0.708																																						ENST00000457478.1																			0																																																			0							g.chr2:2910722_2910723insT																													2.37:g.2910723_2910723dupT														0	594	-									RNA	INS	ENST00000457478.1	37																																																																																						0.708	AC019118.2-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000322597.1			2	4						2	4	---	---	---	---
TMEM184C	55751	broad.mit.edu	37	4	148555575	148555575	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr4:148555575delT	ENST00000296582.3	+	10	1881	c.1307delT	c.(1306-1308)gtgfs	p.V436fs	TMEM184C_ENST00000508208.1_Intron	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	436						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						GATAAATCCGTGGATTCCTGA	0.398																																						ENST00000296582.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						c.(1306-1308)ggfs		transmembrane protein 184C							55.0	58.0	57.0					4																	148555575		2202	4298	6500	SO:0001589	frameshift_variant	55751					integral to membrane		g.chr4:148555575delT	AF305823	CCDS3770.1	4q31.22	2008-06-05	2008-06-05	2008-06-05		ENSG00000164168			25587	protein-coding gene	gene with protein product		613937	"""transmembrane protein 34"""	TMEM34			Standard	NM_018241		Approved	FLJ10846	uc003ila.4	Q9NVA4		ENST00000296582.3:c.1307delT	4.37:g.148555575delT	ENSP00000296582:p.Val436fs					TMEM184C_ENST00000508208.1_Intron	p.V436fs	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN			10	1881	+			436					D3DP04|Q86X84|Q969I7|Q9NXM2	Frame_Shift_Del	DEL	ENST00000296582.3	37	c.1307delT	CCDS3770.1																																																																																				0.398	TMEM184C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364644.1	NM_018241		9	76						9	76	---	---	---	---
MEST	4232	broad.mit.edu	37	7	130143791	130143791	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr7:130143791delC	ENST00000223215.4	+	11	1065	c.844delC	c.(844-846)ccafs	p.P282fs	MEST_ENST00000341441.5_Frame_Shift_Del_p.P273fs|MEST_ENST00000416162.2_Frame_Shift_Del_p.P239fs|MEST_ENST00000437945.1_Intron|MEST_ENST00000378576.4_Frame_Shift_Del_p.P239fs|MEST_ENST00000393187.1_Frame_Shift_Del_p.P273fs	NM_001253900.1|NM_002402.3	NP_001240829.1|NP_002393.2	Q5EB52	MEST_HUMAN	mesoderm specific transcript	282					mesoderm development (GO:0007498)|regulation of lipid storage (GO:0010883)|response to retinoic acid (GO:0032526)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					TATCTATGGGCCATTGGATCC	0.408																																					Colon(126;2182 2305 6517 35181)	ENST00000223215.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12						c.(844-846)cafs		mesoderm specific transcript							154.0	152.0	153.0					7																	130143791		2203	4300	6503	SO:0001589	frameshift_variant	4232				mesoderm development	endoplasmic reticulum membrane|integral to membrane	hydrolase activity|protein binding	g.chr7:130143791delC		CCDS5822.1, CCDS5823.1, CCDS59081.1	7q32	2014-08-22	2012-12-07		ENSG00000106484	ENSG00000106484			7028	protein-coding gene	gene with protein product	"""Paternally-expressed gene 1"""	601029	"""mesoderm specific transcript (mouse) homolog"", ""mesoderm specific transcript homolog (mouse)"""			8884280	Standard	NM_002402		Approved	PEG1	uc003vqg.3	Q5EB52	OTTHUMG00000156661	ENST00000223215.4:c.844delC	7.37:g.130143791delC	ENSP00000223215:p.Pro282fs					MEST_ENST00000378576.4_Frame_Shift_Del_p.P239fs|MEST_ENST00000416162.2_Frame_Shift_Del_p.P239fs|MEST_ENST00000437945.1_Intron|MEST_ENST00000393187.1_Frame_Shift_Del_p.P273fs|MEST_ENST00000341441.4_Frame_Shift_Del_p.P273fs	p.P282fs	NM_001253900.1|NM_002402.3	NP_001240829.1|NP_002393.2	Q5EB52	MEST_HUMAN			11	1065	+	Melanoma(18;0.0435)		282					B2R6S1|O14973|O15007|Q6AI49|Q92571	Frame_Shift_Del	DEL	ENST00000223215.4	37	c.844delC	CCDS5822.1																																																																																				0.408	MEST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345183.2	NM_002402		11	80						11	80	---	---	---	---
OVOS2	144203	broad.mit.edu	37	12	31269189	31269190	+	RNA	INS	-	-	ATCAT	rs25559|rs10665556	byFrequency	TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr12:31269189_31269190insATCAT	ENST00000542490.1	-	0	165																				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41						CATGAGAACTCATTACCATGAT	0.351														3178	0.634585	0.7088	0.611	5008	,	,		12379	0.8274		0.4284	False		,,,				2504	0.5644					ENST00000542490.1																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41																																														0							g.chr12:31269189_31269190insATCAT																													12.37:g.31269189_31269190insATCAT														0	165	-									RNA	INS	ENST00000542490.1	37																																																																																						0.351	RP11-551L14.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400342.1			4	8						4	8	---	---	---	---
ESRRAP2	144832	broad.mit.edu	37	13	21835723	21835728	+	RNA	DEL	GGCGAG	GGCGAG	-			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr13:21835723_21835728delGGCGAG	ENST00000427890.1	+	0	61									estrogen-related receptor alpha pseudogene 2																		GATGGACTGAGGCGAGGGGTGGGACT	0.646																																						ENST00000427890.1																			0																																																			0							g.chr13:21835723_21835728delGGCGAG	U85258		13q12.11	2011-03-15			ENSG00000235438	ENSG00000235438			24647	pseudogene	pseudogene						9344655, 3267207, 18065488	Standard	NG_007350		Approved	ESTRRA			OTTHUMG00000016534		13.37:g.21835723_21835728delGGCGAG														0	61	+									RNA	DEL	ENST00000427890.1	37																																																																																						0.646	ESRRAP2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000471193.1	NR_000033		2	4						2	4	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25434470	25434470	+	RNA	DEL	C	C	-			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr15:25434470delC	ENST00000424208.1	+	0	906				SNORD115-12_ENST00000362583.1_RNA|SNHG14_ENST00000414175.1_RNA|SNORD115-10_ENST00000365073.1_RNA|SNORD115-11_ENST00000363616.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		TCAGGCTCTTCCTGGCGCCCT	0.612																																						ENST00000424208.1																			0																																																			0							g.chr15:25434470delC			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25434470delC						SNHG14_ENST00000414175.1_RNA		NR_003305.1						0	906	+									RNA	DEL	ENST00000424208.1	37																																																																																						0.612	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			19	126						19	126	---	---	---	---
VN1R2	317701	broad.mit.edu	37	19	53762385	53762385	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr19:53762385delC	ENST00000341702.3	+	1	841	c.757delC	c.(757-759)cttfs	p.L253fs		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	253					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		TTCTGCCCCACTTAGTGATGA	0.433																																						ENST00000341702.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31						c.(757-759)ttfs		vomeronasal 1 receptor 2							127.0	118.0	121.0					19																	53762385		2203	4300	6503	SO:0001589	frameshift_variant	317701				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53762385delC	AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.757delC	19.37:g.53762385delC	ENSP00000351244:p.Leu253fs						p.L253fs	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN		GBM - Glioblastoma multiforme(134;0.00301)	1	841	+			253					A1L411|Q8TDU4	Frame_Shift_Del	DEL	ENST00000341702.3	37	c.757delC	CCDS12862.1																																																																																				0.433	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	NM_173856		10	159						10	159	---	---	---	---
TMPRSS2	7113	broad.mit.edu	37	21	42843790	42843791	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr21:42843790_42843791insG	ENST00000332149.5	-	10	1151_1152	c.1017_1018insC	c.(1015-1020)tccaagfs	p.K340fs	TMPRSS2_ENST00000398585.3_Frame_Shift_Ins_p.K377fs|TMPRSS2_ENST00000458356.1_Frame_Shift_Ins_p.K340fs	NM_005656.3	NP_005647.3	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	340	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				positive regulation of viral entry into host cell (GO:0046598)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				TTCTTGGTCTTGGAGTCATAAT	0.46			T	"""ERG, ETV1, ETV4, ETV5"""	prostate																																	ENST00000398585.3				Dom	yes		21	21q22.3	7113	T	"""transmembrane protease, serine 2"""			E	"""ERG, ETV1, ETV4, ETV5"""		prostate	TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	0				central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4						c.(1126-1131)tcagacfs		transmembrane protease, serine 2																																				SO:0001589	frameshift_variant	0				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:42843790_42843791insG	U75329	CCDS33564.1, CCDS54486.1	21q22.3	2010-04-13			ENSG00000184012	ENSG00000184012		"""Serine peptidases / Transmembrane"""	11876	protein-coding gene	gene with protein product		602060				9325052	Standard	NM_005656		Approved	PRSS10	uc010gor.3	O15393	OTTHUMG00000086762	ENST00000332149.5:c.1018dupC	21.37:g.42843792_42843792dupG	ENSP00000330330:p.Lys340fs					TMPRSS2_ENST00000458356.1_Frame_Shift_Ins_p.D340fs|TMPRSS2_ENST00000332149.5_Frame_Shift_Ins_p.D340fs	p.D377fs	NM_001135099.1	NP_001128571.1	O15393	TMPS2_HUMAN			10	1188_1189	-		Prostate(19;4.48e-07)|all_epithelial(19;0.031)	340			Peptidase S1.		A8K6Z8|B2R8E5|B7Z459|D3DSJ2|F8WES1|Q6GTK7|Q9BXX1	Frame_Shift_Ins	INS	ENST00000332149.5	37	c.1128_1129insC	CCDS33564.1																																																																																				0.460	TMPRSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195189.1			14	130						14	130	---	---	---	---
XBP1	7494	broad.mit.edu	37	22	29196498	29196499	+	In_Frame_Ins	INS	-	-	GCC	rs528996789	byFrequency	TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr22:29196498_29196499insGCC	ENST00000216037.6	-	1	86_87	c.14_15insGGC	c.(13-15)gca>gcGGCa	p.5_5A>AA	XBP1_ENST00000403532.3_In_Frame_Ins_p.5_5A>AA|CTA-292E10.6_ENST00000585003.1_RNA|CTA-292E10.6_ENST00000458080.1_RNA|XBP1_ENST00000344347.5_In_Frame_Ins_p.5_5A>AA|CTA-292E10.6_ENST00000418292.1_RNA|XBP1_ENST00000405219.3_5'Flank|CTA-292E10.6_ENST00000451486.1_RNA	NM_001079539.1|NM_005080.3	NP_001073007.1|NP_005071.2	P17861	XBP1_HUMAN	X-box binding protein 1	5					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial cell maturation involved in salivary gland development (GO:0060691)|exocrine pancreas development (GO:0031017)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|serotonin secretion, neurotransmission (GO:0060096)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|large_intestine(1)|lung(1)	5						TCGGCGCGGCTGCCACCACCAC	0.762																																						ENST00000216037.6																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(1)	5						c.(13-15)ggc>gGGCgc		X-box binding protein 1			,	24,1974		9,6,984					,	1.1	1.0			2	13,4915		3,7,2454	no	coding,coding	XBP1	NM_005080.3,NM_001079539.1	,	12,13,3438	A1A1,A1R,RR		0.2638,1.2012,0.5342	,	,		37,6889				SO:0001652	inframe_insertion	7494				immune response	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:29196498_29196499insGCC	M31627	CCDS13847.1	22q12.1	2013-01-10			ENSG00000100219	ENSG00000100219		"""basic leucine zipper proteins"""	12801	protein-coding gene	gene with protein product		194355		XBP2		1718857, 2196176	Standard	NM_001079539		Approved		uc003aec.3	P17861	OTTHUMG00000151094	ENST00000216037.6:c.12_14dupGGC	22.37:g.29196499_29196501dupGCC	ENSP00000216037:p.Ala7dup					XBP1_ENST00000344347.5_In_Frame_Ins_p.5_6insR|XBP1_ENST00000403532.3_In_Frame_Ins_p.5_6insR	p.5_6insR	NM_001079539.1|NM_005080.3	NP_001073007.1|NP_005071.2	P17861	XBP1_HUMAN			1	86_87	-			5					Q8WYK6|Q969P1|Q96BD7	In_Frame_Ins	INS	ENST00000216037.6	37	c.14_15insGGC	CCDS13847.1																																																																																				0.762	XBP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321274.1	NM_005080		4	7						4	7	---	---	---	---
