#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
GRM7	2917	broad.mit.edu	37	3	7620568	7620568	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr3:7620568C>T	ENST00000357716.4	+	8	2249	c.1975C>T	c.(1975-1977)Cga>Tga	p.R659*	GRM7_ENST00000486284.1_Nonsense_Mutation_p.R659*|GRM7_ENST00000403881.1_Nonsense_Mutation_p.R659*|GRM7_ENST00000402647.2_Nonsense_Mutation_p.R659*|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000389336.4_Nonsense_Mutation_p.R659*	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	659					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						TTCTTTCCGGCGAGTTTTCTT	0.453																																						ENST00000486284.1																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						c.(1975-1977)Cga>Tga		glutamate receptor, metabotropic 7	L-Glutamic Acid(DB00142)						120.0	112.0	115.0					3																	7620568		2203	4300	6503	SO:0001587	stop_gained	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7620568C>T	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.1975C>T	3.37:g.7620568C>T	ENSP00000350348:p.Arg659*					GRM7_ENST00000357716.4_Nonsense_Mutation_p.R659*|GRM7_ENST00000402647.2_Nonsense_Mutation_p.R659*|GRM7_ENST00000389336.4_Nonsense_Mutation_p.R659*|GRM7_ENST00000403881.1_Nonsense_Mutation_p.R659*|GRM7_ENST00000458641.2_3'UTR	p.R659*	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN			8	2249	+			659					Q8NFS2|Q8NFS3|Q8NFS4	Nonsense_Mutation	SNP	ENST00000357716.4	37	c.1975C>T	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.805302	0.70682	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	.	.	.	5.93	4.02	0.46733	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.9452	0.71026	0.1889:0.8111:0.0:0.0	.	.	.	.	X	659	.	ENSP00000350348:R659X	R	+	1	2	GRM7	7595568	0.173000	0.23056	0.954000	0.39281	0.204000	0.24138	0.694000	0.25512	0.715000	0.32103	0.655000	0.94253	CGA		0.453	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		27	92	0	0	0	1	0	27	92				
PLEKHN1	84069	broad.mit.edu	37	1	906558	906558	+	Silent	SNP	G	G	A	rs375169656		TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr1:906558G>A	ENST00000379409.2	+	6	864	c.834G>A	c.(832-834)tcG>tcA	p.S278S	PLEKHN1_ENST00000379407.3_Silent_p.S238S|PLEKHN1_ENST00000379410.3_Silent_p.S226S			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	278	PH 2.									central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		TCTGTGCCTCGAGGGTCAAGC	0.692																																						ENST00000379409.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9						c.(832-834)tcG>tcA		pleckstrin homology domain containing, family N member 1		G	,	1,4371		0,1,2185	11.0	12.0	11.0		714,678	-3.2	1.0	1		11	0,8556		0,0,4278	no	coding-synonymous,coding-synonymous	PLEKHN1	NM_001160184.1,NM_032129.2	,	0,1,6463	AA,AG,GG		0.0,0.0229,0.0077	,	238/577,226/612	906558	1,12927	2186	4278	6464	SO:0001819	synonymous_variant	84069							g.chr1:906558G>A	AL136730	CCDS4.1, CCDS53256.1	1p36.33	2013-01-11			ENSG00000187583	ENSG00000187583		"""Pleckstrin homology (PH) domain containing"""	25284	protein-coding gene	gene with protein product						11230166	Standard	NM_032129		Approved	DKFZP434H2010	uc001acd.3	Q494U1	OTTHUMG00000040756	ENST00000379409.2:c.834G>A	1.37:g.906558G>A						PLEKHN1_ENST00000379407.2_Silent_p.S238S|PLEKHN1_ENST00000379410.3_Silent_p.S226S	p.S278S			Q494U1	PKHN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)	6	864	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	278			PH 2.		Q494U2|Q5SV98|Q9H0M7	Silent	SNP	ENST00000379409.2	37	c.834G>A																																																																																					0.692	PLEKHN1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000473256.1	NM_032129		8	4	0	0	0	1	0	8	4				
GPR148	344561	broad.mit.edu	37	2	131487215	131487215	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr2:131487215C>A	ENST00000309926.4	+	1	573	c.491C>A	c.(490-492)gCt>gAt	p.A164D		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	164						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					TCCCATGGGGCTGCCTGGAAG	0.602																																						ENST00000309926.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27						c.(490-492)gCt>gAt		G protein-coupled receptor 148							69.0	64.0	66.0					2																	131487215		2203	4300	6503	SO:0001583	missense	344561					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:131487215C>A	AY255532	CCDS2163.1	2q21.2	2012-08-21			ENSG00000173302	ENSG00000173302		"""GPCR / Class A : Orphans"""	23623	protein-coding gene	gene with protein product						12679517	Standard	NM_207364		Approved	PGR6	uc002trv.2	Q8TDV2	OTTHUMG00000131655	ENST00000309926.4:c.491C>A	2.37:g.131487215C>A	ENSP00000308908:p.Ala164Asp						p.A164D	NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN			1	573	+	Colorectal(110;0.1)		164					Q2M369|Q86SP7|Q86U87	Missense_Mutation	SNP	ENST00000309926.4	37	c.491C>A	CCDS2163.1	.	.	.	.	.	.	.	.	.	.	.	2.927	-0.222006	0.06061	.	.	ENSG00000173302	ENST00000309926	T	0.38077	1.16	2.87	0.911	0.19343	GPCR, rhodopsin-like superfamily (1);	0.580927	0.13817	U	0.360670	T	0.14270	0.0345	N	0.08118	0	0.09310	N	1	P	0.37176	0.586	B	0.33339	0.162	T	0.14035	-1.0487	10	0.72032	D	0.01	-1.4146	1.8909	0.03247	0.2037:0.4683:0.1997:0.1283	.	164	Q8TDV2	GP148_HUMAN	D	164	ENSP00000308908:A164D	ENSP00000308908:A164D	A	+	2	0	GPR148	131203685	0.000000	0.05858	0.001000	0.08648	0.211000	0.24417	0.259000	0.18405	0.058000	0.16222	-0.521000	0.04368	GCT		0.602	GPR148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254552.3	XM_293092		6	23	1	0	8.12818e-05	1	8.44282e-05	6	23				
CHRDL1	91851	broad.mit.edu	37	X	109937530	109937530	+	Silent	SNP	A	A	G			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chrX:109937530A>G	ENST00000372045.1	-	8	749	c.618T>C	c.(616-618)gaT>gaC	p.D206D	CHRDL1_ENST00000444321.2_Silent_p.D212D|CHRDL1_ENST00000372042.1_Silent_p.D213D|CHRDL1_ENST00000434224.1_Silent_p.D133D|CHRDL1_ENST00000394797.4_Silent_p.D212D|CHRDL1_ENST00000218054.4_Silent_p.D212D|CHRDL1_ENST00000482160.1_Silent_p.D133D			Q9BU40	CRDL1_HUMAN	chordin-like 1	206					BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|compound eye development (GO:0048749)|eye development (GO:0001654)|negative regulation of BMP signaling pathway (GO:0030514)|nervous system development (GO:0007399)|ossification (GO:0001503)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						TTGGTGGAGGATCATAGTGAG	0.473																																						ENST00000218054.4																			0				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						c.(634-636)gaT>gaC		chordin-like 1							81.0	74.0	76.0					X																	109937530		2203	4300	6503	SO:0001819	synonymous_variant	91851				BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region		g.chrX:109937530A>G	AL049176	CCDS14553.1, CCDS48148.1, CCDS48149.1, CCDS48150.1, CCDS48148.2	Xq23	2014-01-31			ENSG00000101938	ENSG00000101938			29861	protein-coding gene	gene with protein product		300350	"""megalocornea 1 (X-linked)"""	MGC1		11441185, 11118896, 22284829	Standard	NM_001143981		Approved	NRLN1, CHL	uc004eow.3	Q9BU40	OTTHUMG00000022199	ENST00000372045.1:c.618T>C	X.37:g.109937530A>G						CHRDL1_ENST00000372045.1_Silent_p.D206D|CHRDL1_ENST00000444321.2_Silent_p.D212D|CHRDL1_ENST00000482160.1_Silent_p.D133D|CHRDL1_ENST00000434224.1_Silent_p.D133D|CHRDL1_ENST00000372042.1_Silent_p.D213D|CHRDL1_ENST00000394797.4_Silent_p.D212D	p.D212D	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN			8	832	-			206					B1AKD0|B4DMP3|D3DUY6|E9PGS5|Q539E4|Q9Y3H7	Silent	SNP	ENST00000372045.1	37	c.636T>C																																																																																					0.473	CHRDL1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057912.1	NM_145234		24	46	0	0	0	1	0	24	46				
PLXNA4	91584	broad.mit.edu	37	7	131848963	131848963	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr7:131848963C>T	ENST00000359827.3	-	24	5400	c.4438G>A	c.(4438-4440)Gag>Aag	p.E1480K	PLXNA4_ENST00000321063.4_Missense_Mutation_p.E1480K			Q9HCM2	PLXA4_HUMAN	plexin A4	1480					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.E1480K(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TAGCGGGCCTCGCCCGTGATG	0.592																																						ENST00000359827.3																			2	Substitution - Missense(2)	p.E1480K(2)	lung(2)	NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(4438-4440)Gag>Aag		plexin A4							75.0	79.0	77.0					7																	131848963		2203	4300	6503	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131848963C>T	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.4438G>A	7.37:g.131848963C>T	ENSP00000352882:p.Glu1480Lys					PLXNA4_ENST00000321063.4_Missense_Mutation_p.E1480K	p.E1480K			Q9HCM2	PLXA4_HUMAN			24	5400	-			1480					A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.4438G>A	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.948470	0.92593	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.10668	2.85;2.85	5.45	5.45	0.79879	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.22820	0.0551	L	0.37850	1.14	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.03695	-1.1012	10	0.08837	T	0.75	.	19.3079	0.94171	0.0:1.0:0.0:0.0	.	1480	Q9HCM2	PLXA4_HUMAN	K	1480	ENSP00000323194:E1480K;ENSP00000352882:E1480K	ENSP00000323194:E1480K	E	-	1	0	PLXNA4	131499503	1.000000	0.71417	0.952000	0.39060	0.714000	0.41099	6.089000	0.71384	2.550000	0.86006	0.655000	0.94253	GAG		0.592	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		4	28	0	0	0	1	0	4	28				
ASTN1	460	broad.mit.edu	37	1	176934360	176934360	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr1:176934360T>C	ENST00000367654.3	-	9	1772	c.1561A>G	c.(1561-1563)Aca>Gca	p.T521A	ASTN1_ENST00000424564.2_Missense_Mutation_p.T513A|ASTN1_ENST00000367657.3_Missense_Mutation_p.T513A|ASTN1_ENST00000361833.2_Missense_Mutation_p.T513A|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	521					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TGAAATATTGTGTAAGGCCAT	0.418																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(1561-1563)Aca>Gca		astrotactin 1							118.0	119.0	119.0					1																	176934360		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176934360T>C	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.1561A>G	1.37:g.176934360T>C	ENSP00000356626:p.Thr521Ala					ASTN1_ENST00000424564.2_Missense_Mutation_p.T513A|ASTN1_ENST00000367657.3_Missense_Mutation_p.T513A|ASTN1_ENST00000361833.2_Missense_Mutation_p.T513A|ASTN1_ENST00000281881.3_5'UTR	p.T521A			O14525	ASTN1_HUMAN			9	1574	-			521					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.1561A>G		.	.	.	.	.	.	.	.	.	.	T	16.53	3.150095	0.57151	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;D;T	0.87103	2.38;2.79;-2.21;2.38	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	D	0.89245	0.6660	L	0.29908	0.895	0.80722	D	1	D;D;D	0.56035	0.974;0.974;0.974	D;D;D	0.70487	0.969;0.953;0.953	D	0.90752	0.4658	10	0.87932	D	0	-5.4462	14.6897	0.69076	0.0:0.0:0.0:1.0	.	521;513;513	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	A	513;513;521;513;513	ENSP00000356629:T513A;ENSP00000354536:T513A;ENSP00000356626:T521A;ENSP00000395041:T513A	ENSP00000354536:T513A	T	-	1	0	ASTN1	175200983	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.222000	0.78025	1.998000	0.58463	0.397000	0.26171	ACA		0.418	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		21	73	0	0	0	1	0	21	73				
RRAD	6236	broad.mit.edu	37	16	66957606	66957606	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr16:66957606C>A	ENST00000299759.6	-	4	712	c.462G>T	c.(460-462)ttG>ttT	p.L154F	RRAD_ENST00000420652.1_Missense_Mutation_p.L154F			P55042	RAD_HUMAN	Ras-related associated with diabetes	154					small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		AGTGGCCGGGCAACCAGCGGC	0.612																																						ENST00000299759.6																			0				endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17						c.(460-462)ttG>ttT		Ras-related associated with diabetes							93.0	95.0	94.0					16																	66957606		2200	4300	6500	SO:0001583	missense	6236				small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity	g.chr16:66957606C>A	L24564	CCDS10824.1	16q22	2014-05-09			ENSG00000166592	ENSG00000166592			10446	protein-coding gene	gene with protein product		179503				7859947	Standard	NM_004165		Approved	REM3, RAD	uc002eqo.2	P55042	OTTHUMG00000137511	ENST00000299759.6:c.462G>T	16.37:g.66957606C>A	ENSP00000299759:p.Leu154Phe					RRAD_ENST00000420652.1_Missense_Mutation_p.L154F	p.L154F			P55042	RAD_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)	4	712	-		Ovarian(137;0.192)	154					Q96F39	Missense_Mutation	SNP	ENST00000299759.6	37	c.462G>T	CCDS10824.1	.	.	.	.	.	.	.	.	.	.	C	8.953	0.968670	0.18659	.	.	ENSG00000166592	ENST00000420652;ENST00000299759	D;D	0.82081	-1.57;-1.57	4.81	1.41	0.22369	Small GTP-binding protein domain (1);	0.068319	0.64402	D	0.000010	D	0.86125	0.5858	M	0.71581	2.175	0.58432	D	0.999999	D	0.76494	0.999	D	0.71870	0.975	T	0.82198	-0.0576	10	0.49607	T	0.09	.	3.2498	0.06810	0.2253:0.3522:0.3301:0.0924	.	154	P55042	RAD_HUMAN	F	154	ENSP00000388744:L154F;ENSP00000299759:L154F	ENSP00000299759:L154F	L	-	3	2	RRAD	65515107	0.944000	0.32072	0.998000	0.56505	0.042000	0.13812	0.139000	0.16036	0.478000	0.27488	0.561000	0.74099	TTG		0.612	RRAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268830.1	NM_004165		18	81	1	0	2.94398e-08	1	3.15987e-08	18	81				
ZNF845	91664	broad.mit.edu	37	19	53856702	53856702	+	Missense_Mutation	SNP	G	G	A	rs200114728	byFrequency	TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr19:53856702G>A	ENST00000595091.1	+	5	2993	c.2774G>A	c.(2773-2775)cGt>cAt	p.R925H	ZNF845_ENST00000458035.1_Missense_Mutation_p.R925H			Q96IR2	ZN845_HUMAN	zinc finger protein 845	925					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R925H(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAAACCTTCCGTCACAATTCA	0.363													.|||	267	0.0533147	0.0484	0.0562	5008	,	,		21751	0.0466		0.0915	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - Missense(3)	p.R925H(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2773-2775)cGt>cAt		zinc finger protein 845							33.0	30.0	31.0					19																	53856702		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856702G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2774G>A	19.37:g.53856702G>A	ENSP00000470005:p.Arg925His					ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H	p.R925H	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2891	+			925						Missense_Mutation	SNP	ENST00000595091.1	37	c.2774G>A	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	G	5.812	0.334080	0.11013	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.36157	1.27	2.0	-4.0	0.04057	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42585	0.1209	L	0.58302	1.8	0.09310	N	1	D	0.55800	0.973	P	0.53760	0.734	T	0.43925	-0.9361	9	0.51188	T	0.08	.	10.7803	0.46374	0.0:0.6804:0.1821:0.1375	.	925	Q96IR2	ZN845_HUMAN	H	925;841	ENSP00000388311:R925H	ENSP00000412086:R841H	R	+	2	0	ZNF845	58548514	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.662000	0.00032	-1.603000	0.01597	-0.499000	0.04595	CGT		0.363	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		4	47	0	0	0	1	0	4	47				
TMEM50B	757	broad.mit.edu	37	21	34841096	34841096	+	Silent	SNP	A	A	G			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr21:34841096A>G	ENST00000542230.2	-	2	311	c.97T>C	c.(97-99)Ttg>Ctg	p.L33L		NM_006134.6	NP_006125.2	P56557	TM50B_HUMAN	transmembrane protein 50B	33						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|ovary(1)|skin(1)	4						TCACTTACCAATATACCTGCG	0.423																																						ENST00000542230.2																			0				breast(1)|kidney(1)|ovary(1)|skin(1)	4						c.(97-99)Ttg>Ctg		transmembrane protein 50B							148.0	128.0	135.0					21																	34841096		2203	4300	6503	SO:0001819	synonymous_variant	757					endoplasmic reticulum|integral to membrane|plasma membrane		g.chr21:34841096A>G	AF045606	CCDS13625.1	21q22.1	2008-07-29	2005-06-02	2005-06-02	ENSG00000142188	ENSG00000142188			1280	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 4"""	C21orf4			Standard	NR_040016		Approved		uc002yrs.2	P56557	OTTHUMG00000065286	ENST00000542230.2:c.97T>C	21.37:g.34841096A>G							p.L33L	NM_006134.6	NP_006125.2	P56557	TM50B_HUMAN			2	311	-			33					B2R4L4|D3DSF1|O60537|Q5PY47	Silent	SNP	ENST00000542230.2	37	c.97T>C	CCDS13625.1																																																																																				0.423	TMEM50B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140080.5			28	56	0	0	0	1	0	28	56				
FERMT1	55612	broad.mit.edu	37	20	6065882	6065882	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr20:6065882T>C	ENST00000217289.4	-	12	2212	c.1424A>G	c.(1423-1425)aAa>aGa	p.K475R	FERMT1_ENST00000478194.1_5'UTR|FERMT1_ENST00000536936.1_Missense_Mutation_p.K218R	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	475	FERM.				cell adhesion (GO:0007155)|establishment of epithelial cell polarity (GO:0090162)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						TGCCATGGTTTTGCCCTTCGA	0.512																																						ENST00000217289.4																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						c.(1423-1425)aAa>aGa		fermitin family member 1							99.0	83.0	88.0					20																	6065882		2203	4300	6503	SO:0001583	missense	55612				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding	g.chr20:6065882T>C	AK000123	CCDS13098.1	20p12.3	2013-01-10	2010-06-24	2007-12-14	ENSG00000101311	ENSG00000101311		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15889	protein-coding gene	gene with protein product	"""kindlin-1"", ""kinderlin"""	607900	"""chromosome 20 open reading frame 42"", ""fermitin family homolog 1 (Drosophila)"""	C20orf42		12697302, 12789646	Standard	NM_017671		Approved	FLJ20116, URP1, KIND1, UNC112A	uc002wmr.3	Q9BQL6	OTTHUMG00000031826	ENST00000217289.4:c.1424A>G	20.37:g.6065882T>C	ENSP00000217289:p.Lys475Arg					FERMT1_ENST00000478194.1_5'UTR|FERMT1_ENST00000536936.1_Missense_Mutation_p.K218R	p.K475R	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN			12	2212	-			475			FERM.		D3DW10|Q8IX34|Q8IYH2|Q9NWM2|Q9NXQ3	Missense_Mutation	SNP	ENST00000217289.4	37	c.1424A>G	CCDS13098.1	.	.	.	.	.	.	.	.	.	.	t	13.62	2.290870	0.40494	.	.	ENSG00000101311	ENST00000217289;ENST00000536936;ENST00000339538	T;T	0.59502	0.78;0.26	5.18	5.18	0.71444	Band 4.1 domain (1);FERM central domain (2);Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.52468	0.1736	L	0.46614	1.455	0.80722	D	1	B	0.25206	0.12	B	0.36244	0.22	T	0.45600	-0.9250	10	0.15499	T	0.54	-22.8003	11.3055	0.49332	0.0:0.074:0.0:0.926	.	475	Q9BQL6	FERM1_HUMAN	R	475;218;475	ENSP00000217289:K475R;ENSP00000441063:K218R	ENSP00000217289:K475R	K	-	2	0	FERMT1	6013882	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.130000	0.64745	2.080000	0.62538	0.454000	0.30748	AAA		0.512	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077908.2	NM_017671		19	102	0	0	0	1	0	19	102				
XXYLT1	152002	broad.mit.edu	37	3	194947506	194947506	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr3:194947506C>G	ENST00000310380.6	-	2	692	c.584G>C	c.(583-585)gGc>gCc	p.G195A	XXYLT1_ENST00000429994.1_Missense_Mutation_p.G49A	NM_152531.4	NP_689744.3	Q8NBI6	XXLT1_HUMAN	xyloside xylosyltransferase 1	195						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring pentosyl groups (GO:0016763)										GGTTCCCAAGCCAGCACTGAA	0.532																																						ENST00000310380.6																			0											c.(583-585)gGc>gCc		xyloside xylosyltransferase 1							102.0	106.0	105.0					3																	194947506		2067	4221	6288	SO:0001583	missense	152002					integral to membrane	transferase activity, transferring glycosyl groups	g.chr3:194947506C>G	AK075551	CCDS43188.1	3q29	2013-02-22	2011-10-19	2011-10-19	ENSG00000173950	ENSG00000173950		"""Glycosyltransferase family 8 domain containing"""	26639	protein-coding gene	gene with protein product		614552	"""chromosome 3 open reading frame 21"""	C3orf21		22117070	Standard	NM_152531		Approved	FLJ35155	uc003fum.4	Q8NBI6	OTTHUMG00000155915	ENST00000310380.6:c.584G>C	3.37:g.194947506C>G	ENSP00000309640:p.Gly195Ala					XXYLT1_ENST00000429994.1_Missense_Mutation_p.G49A	p.G195A	NM_152531.4	NP_689744.3	Q8NBI6	CC021_HUMAN			2	692	-			195					D3DNW5|Q8NAL3|Q8WV03|Q96ME0	Missense_Mutation	SNP	ENST00000310380.6	37	c.584G>C	CCDS43188.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.732778	0.48939	.	.	ENSG00000173950	ENST00000310380;ENST00000429994;ENST00000458652	T	0.21361	2.01	4.51	3.62	0.41486	.	0.050261	0.85682	D	0.000000	T	0.28267	0.0698	L	0.29908	0.895	0.80722	D	1	B;D	0.71674	0.178;0.998	B;D	0.69824	0.194;0.966	T	0.02519	-1.1147	10	0.08599	T	0.76	-0.9847	13.5558	0.61759	0.1574:0.8426:0.0:0.0	.	49;195	C9JV19;Q8NBI6	.;XXLT1_HUMAN	A	195;49;49	ENSP00000309640:G195A	ENSP00000309640:G195A	G	-	2	0	C3orf21	196428795	1.000000	0.71417	0.989000	0.46669	0.093000	0.18481	7.597000	0.82733	1.177000	0.42855	-0.293000	0.09583	GGC		0.532	XXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342290.1	NM_152531		12	77	0	0	0	1	0	12	77				
WNT3	7473	broad.mit.edu	37	17	44845707	44845707	+	Silent	SNP	G	G	A	rs571188215		TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr17:44845707G>A	ENST00000225512.5	-	4	1209	c.1047C>T	c.(1045-1047)taC>taT	p.Y349Y		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	349					anterior/posterior axis specification (GO:0009948)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell fate commitment (GO:0045165)|cell morphogenesis (GO:0000902)|cellular response to retinoic acid (GO:0071300)|dorsal/ventral axis specification (GO:0009950)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|gamete generation (GO:0007276)|head morphogenesis (GO:0060323)|limb bud formation (GO:0060174)|mammary gland epithelium development (GO:0061180)|mesoderm formation (GO:0001707)|negative regulation of axon extension involved in axon guidance (GO:0048843)|neuron differentiation (GO:0030182)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of gene expression (GO:0010628)|Spemann organizer formation at the anterior end of the primitive streak (GO:0060064)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			TGTGCACGTCGTAGATGCGAA	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		19262	0.001		0.0	False		,,,				2504	0.0					ENST00000225512.5																			0				endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13						c.(1045-1047)taC>taT		wingless-type MMTV integration site family, member 3							65.0	54.0	58.0					17																	44845707		2203	4300	6503	SO:0001819	synonymous_variant	7473				canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity	g.chr17:44845707G>A	AY009397	CCDS11505.1	17q21-q22	2013-02-28				ENSG00000108379		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12782	protein-coding gene	gene with protein product	"""WNT-3 proto-oncogene protein"""	165330		INT4		8244403	Standard	NM_030753		Approved	MGC131950, MGC138321, MGC138323	uc002ikv.3	P56703		ENST00000225512.5:c.1047C>T	17.37:g.44845707G>A							p.Y349Y	NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0257)		4	1209	-			349					Q2M237|Q9H1J9	Silent	SNP	ENST00000225512.5	37	c.1047C>T	CCDS11505.1																																																																																				0.617	WNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440427.1	NM_030753		14	43	0	0	0	1	0	14	43				
TUB	7275	broad.mit.edu	37	11	8122379	8122379	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr11:8122379G>A	ENST00000299506.2	+	11	1371	c.1222G>A	c.(1222-1224)Gag>Aag	p.E408K	TUB_ENST00000305253.4_Missense_Mutation_p.E463K|TUB_ENST00000534099.1_Missense_Mutation_p.E414K	NM_177972.2	NP_813977.1	P50607	TUB_HUMAN	tubby bipartite transcription factor	408					multicellular organismal macromolecule metabolic process (GO:0044259)|phagocytosis (GO:0006909)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|response to hormone (GO:0009725)|retina development in camera-type eye (GO:0060041)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled photoreceptor activity (GO:0008020)|protein complex binding (GO:0032403)			breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		CCAGGAGCATGAGACACTGCT	0.547																																						ENST00000305253.4																			0				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(1387-1389)Gag>Aag		tubby bipartite transcription factor							104.0	96.0	99.0					11																	8122379		2201	4296	6497	SO:0001583	missense	7275				phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane		g.chr11:8122379G>A	U54644	CCDS7786.1, CCDS7787.1	11p15.5	2013-08-06	2013-08-06		ENSG00000166402	ENSG00000166402			12406	protein-coding gene	gene with protein product		601197	"""tubby (mouse) homolog"", ""tubby homolog (mouse)"""			8612280	Standard	NM_003320		Approved	rd5	uc001mfy.3	P50607	OTTHUMG00000165690	ENST00000299506.2:c.1222G>A	11.37:g.8122379G>A	ENSP00000299506:p.Glu408Lys					TUB_ENST00000299506.2_Missense_Mutation_p.E408K|TUB_ENST00000534099.1_Missense_Mutation_p.E414K	p.E463K	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)	12	1628	+		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)	408					D3DQU4|O00293|Q6B007	Missense_Mutation	SNP	ENST00000299506.2	37	c.1387G>A	CCDS7787.1	.	.	.	.	.	.	.	.	.	.	G	36	5.627571	0.96671	.	.	ENSG00000166402	ENST00000534099;ENST00000305253;ENST00000299506	D;D;D	0.86432	-2.12;-2.12;-2.12	5.19	5.19	0.71726	Tubby, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.93556	0.7943	M	0.83312	2.635	0.80722	D	1	D;P;D	0.55385	0.971;0.942;0.964	D;D;P	0.64237	0.923;0.923;0.833	D	0.93602	0.6931	10	0.52906	T	0.07	-0.0113	19.0496	0.93038	0.0:0.0:1.0:0.0	.	414;408;463	E9PQR4;P50607;P50607-2	.;TUB_HUMAN;.	K	414;463;408	ENSP00000434400:E414K;ENSP00000305426:E463K;ENSP00000299506:E408K	ENSP00000299506:E408K	E	+	1	0	TUB	8078955	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.593000	0.87608	0.655000	0.94253	GAG		0.547	TUB-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385823.1	NM_003320		15	44	0	0	0	1	0	15	44				
PKHD1	5314	broad.mit.edu	37	6	51897826	51897826	+	Splice_Site	SNP	A	A	C			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr6:51897826A>C	ENST00000371117.3	-	29	3640		c.e29+1		PKHD1_ENST00000340994.4_Splice_Site	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)						cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CACATATTTTACCTGCTATAT	0.353																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.e29+1		polycystic kidney and hepatic disease 1 (autosomal recessive)							124.0	124.0	124.0					6																	51897826		2203	4300	6503	SO:0001630	splice_region_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51897826A>C	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.3364+1T>G	6.37:g.51897826A>C						PKHD1_ENST00000340994.4_Splice_Site		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			29	3640	-	Lung NSC(77;0.0605)							Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Splice_Site	SNP	ENST00000371117.3	37		CCDS4935.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.165467	0.78339	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	.	.	.	5.99	5.99	0.97316	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.653	0.77112	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PKHD1	52005785	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	6.186000	0.72026	2.292000	0.77174	0.482000	0.46254	.		0.353	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	Intron	40	137	0	0	0	1	0	40	137				
PANK2	80025	broad.mit.edu	37	20	3897632	3897632	+	Nonsense_Mutation	SNP	A	A	T			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr20:3897632A>T	ENST00000316562.4	+	5	1477	c.1471A>T	c.(1471-1473)Aga>Tga	p.R491*	PANK2_ENST00000464452.1_3'UTR|MIR103A2_ENST00000362154.1_RNA|PANK2_ENST00000497424.1_Nonsense_Mutation_p.R200*|PANK2_ENST00000610179.1_Nonsense_Mutation_p.R368*	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	491					aerobic respiration (GO:0009060)|cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|mitochondrion morphogenesis (GO:0070584)|pantothenate metabolic process (GO:0015939)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GGACCTGGCCAGAGCGACTTT	0.448																																						ENST00000497424.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(598-600)Aga>Tga		pantothenate kinase 2							138.0	115.0	123.0					20																	3897632		2203	4300	6503	SO:0001587	stop_gained	80025				cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding	g.chr20:3897632A>T	AK021791	CCDS13071.2, CCDS13072.1	20p13	2008-07-31	2008-07-31	2002-09-06	ENSG00000125779	ENSG00000125779	2.7.1.33		15894	protein-coding gene	gene with protein product	"""Hallervorden-Spatz syndrome"""	606157	"""neurodegeneration with brain iron accumulation 1 (Hallervorden-Spatz syndrome)"""	C20orf48, NBIA1		8944032, 11479594	Standard	XM_005260835		Approved	HSS, FLJ11729, PKAN, HARP	uc002wkc.3	Q9BZ23	OTTHUMG00000031768	ENST00000316562.4:c.1471A>T	20.37:g.3897632A>T	ENSP00000313377:p.Arg491*					PANK2_ENST00000316562.4_Nonsense_Mutation_p.R491*|PANK2_ENST00000336066.3_3'UTR	p.R200*	NM_024960.4|NM_153640.2	NP_079236.3|NP_705904.1	Q9BZ23	PANK2_HUMAN			5	909	+			491					B1AK33|B2Z3X0|D3DVZ0|Q5T7I2|Q5T7I4|Q7RTX5|Q8N7Q4|Q8TCR5|Q9BYW5|Q9HAF2	Nonsense_Mutation	SNP	ENST00000316562.4	37	c.598A>T	CCDS13071.2	.	.	.	.	.	.	.	.	.	.	A	38	6.894668	0.97916	.	.	ENSG00000125779	ENST00000497424;ENST00000316562;ENST00000399552	.	.	.	5.21	4.09	0.47781	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.3648	0.44017	0.8351:0.1649:0.0:0.0	.	.	.	.	X	200;491;307	.	ENSP00000313377:R491X	R	+	1	2	PANK2	3845632	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	5.826000	0.69293	0.968000	0.38212	0.533000	0.62120	AGA		0.448	PANK2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077793.2	NM_024960		42	80	0	0	0	1	0	42	80				
MUC5B	727897	broad.mit.edu	37	11	1264581	1264581	+	Silent	SNP	C	C	T			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr11:1264581C>T	ENST00000529681.1	+	31	6529	c.6471C>T	c.(6469-6471)ccC>ccT	p.P2157P	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.P2160P	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2157	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ggacaactcccatccccccag	0.647																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(6478-6480)ccC>ccT		mucin 5B, oligomeric mucus/gel-forming							105.0	136.0	126.0					11																	1264581		2094	4146	6240	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1264581C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.6471C>T	11.37:g.1264581C>T						MUC5B_ENST00000529681.1_Silent_p.P2157P|RP11-532E4.2_ENST00000532061.2_RNA	p.P2160P			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	6538	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2157			11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.6480C>T	CCDS44515.2																																																																																				0.647	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		3	11	0	0	0	1	0	3	11				
KRI1	65095	broad.mit.edu	37	19	10668543	10668543	+	Missense_Mutation	SNP	G	G	A	rs375673634		TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr19:10668543G>A	ENST00000312962.6	-	15	1425	c.1406C>T	c.(1405-1407)cCg>cTg	p.P469L	KRI1_ENST00000361821.5_Missense_Mutation_p.P465L	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	463						nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TTTCTTCCTCGGCTGGCTGGG	0.667																																						ENST00000312962.6																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						c.(1405-1407)cCg>cTg		KRI1 homolog (S. cerevisiae)		G	LEU/PRO	0,4406		0,0,2203	27.0	30.0	29.0		1406	-3.2	0.0	19		29	1,8597		0,1,4298	no	missense	KRI1	NM_023008.3	98	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign	469/710	10668543	1,13003	2203	4299	6502	SO:0001583	missense	65095							g.chr19:10668543G>A		CCDS12242.1	19p13.2	2008-02-05			ENSG00000129347	ENSG00000129347			25769	protein-coding gene	gene with protein product						12878157	Standard	NM_023008		Approved	FLJ12949	uc002moy.1	Q8N9T8	OTTHUMG00000150343	ENST00000312962.6:c.1406C>T	19.37:g.10668543G>A	ENSP00000320917:p.Pro469Leu					KRI1_ENST00000361821.5_Missense_Mutation_p.P465L	p.P469L	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		15	1425	-			469					Q2M1R5|Q2M1R7|Q7L5J7|Q96G92|Q9BU50|Q9H6I1|Q9H978	Missense_Mutation	SNP	ENST00000312962.6	37	c.1406C>T	CCDS12242.1	.	.	.	.	.	.	.	.	.	.	G	7.672	0.687181	0.14973	0.0	1.16E-4	ENSG00000129347	ENST00000312962;ENST00000361821;ENST00000541101	T;T	0.09255	3.17;3.0	5.36	-3.16	0.05217	.	0.506924	0.21116	N	0.079897	T	0.07143	0.0181	L	0.41824	1.3	0.26873	N	0.9677	B;B	0.15473	0.005;0.013	B;B	0.12156	0.004;0.007	T	0.30765	-0.9967	10	0.28530	T	0.3	-19.3537	8.0334	0.30478	0.1408:0.0:0.2063:0.6528	.	469;465	Q8N9T8;D3YTE0	KRI1_HUMAN;.	L	469;465;469	ENSP00000320917:P469L;ENSP00000355366:P465L	ENSP00000320917:P469L	P	-	2	0	KRI1	10529543	0.001000	0.12720	0.032000	0.17829	0.051000	0.14879	0.080000	0.14802	-0.284000	0.09102	-1.283000	0.01379	CCG		0.667	KRI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317705.1	NM_023008		4	14	0	0	0	1	0	4	14				
GABRB3	2562	broad.mit.edu	37	15	26812851	26812851	+	Missense_Mutation	SNP	G	G	A	rs144496462		TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr15:26812851G>A	ENST00000311550.5	-	7	823	c.712C>T	c.(712-714)Cgg>Tgg	p.R238W	GABRB3_ENST00000541819.2_Missense_Mutation_p.R294W|GABRB3_ENST00000400188.3_Missense_Mutation_p.R167W|GABRB3_ENST00000545868.1_Missense_Mutation_p.R153W|GABRB3_ENST00000299267.4_Missense_Mutation_p.R238W	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	238					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CTCTTCAACCGAAAGCTCAGT	0.428																																						ENST00000541819.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68						c.(880-882)Cgg>Tgg		gamma-aminobutyric acid (GABA) A receptor, beta 3	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	121.0	104.0	109.0		712,457,499,712	5.1	1.0	15	dbSNP_134	109	0,8600		0,0,4300	no	missense,missense,missense,missense	GABRB3	NM_000814.5,NM_001191320.1,NM_001191321.1,NM_021912.4	101,101,101,101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign,benign	238/474,153/389,167/403,238/474	26812851	1,13005	2203	4300	6503	SO:0001583	missense	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26812851G>A		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.712C>T	15.37:g.26812851G>A	ENSP00000308725:p.Arg238Trp					GABRB3_ENST00000299267.4_Missense_Mutation_p.R238W|GABRB3_ENST00000545868.1_Missense_Mutation_p.R153W|GABRB3_ENST00000400188.3_Missense_Mutation_p.R167W|GABRB3_ENST00000311550.5_Missense_Mutation_p.R238W	p.R294W			P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	8	982	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	238					B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	c.880C>T	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.033368	0.54896	2.27E-4	0.0	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868	T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28	6.06	5.08	0.68730	Neurotransmitter-gated ion-channel ligand-binding (3);	0.096499	0.64402	D	0.000001	T	0.75155	0.3811	M	0.61703	1.905	0.49687	D	0.999817	B;B;B	0.31730	0.337;0.083;0.161	B;B;B	0.21151	0.03;0.013;0.033	T	0.76586	-0.2905	10	0.87932	D	0	.	11.5757	0.50860	0.0:0.0:0.6664:0.3336	.	294;238;238	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	W	238;294;238;167;153	ENSP00000308725:R238W;ENSP00000442408:R294W;ENSP00000299267:R238W;ENSP00000383049:R167W;ENSP00000439169:R153W	ENSP00000299267:R238W	R	-	1	2	GABRB3	24363944	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.605000	0.61119	2.879000	0.98667	0.650000	0.86243	CGG		0.428	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			11	60	0	0	0	1	0	11	60				
PPARGC1A	10891	broad.mit.edu	37	4	23815564	23815564	+	Silent	SNP	G	G	A	rs529792659		TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr4:23815564G>A	ENST00000264867.2	-	8	1661	c.1542C>T	c.(1540-1542)agC>agT	p.S514S	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	514	Mediates interaction with RNF34. {ECO:0000269|PubMed:22064484}.				androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TTTCATCTTCGCTGTCATCAA	0.413													G|||	1	0.000199681	0.0	0.0	5008	,	,		19659	0.001		0.0	False		,,,				2504	0.0				Esophageal Squamous(29;694 744 13796 34866 44181)	ENST00000264867.2																			0				central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51						c.(1540-1542)agC>agT		peroxisome proliferator-activated receptor gamma, coactivator 1 alpha							152.0	144.0	146.0					4																	23815564		2203	4300	6503	SO:0001819	synonymous_variant	10891				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding	g.chr4:23815564G>A	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"""RNA binding motif (RRM) containing"""	9237	protein-coding gene	gene with protein product		604517	"""peroxisome proliferative activated receptor, gamma, coactivator 1"", ""peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"""	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.1542C>T	4.37:g.23815564G>A						PPARGC1A_ENST00000509702.1_5'UTR	p.S514S	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN			8	1661	-		Breast(46;0.0503)	514					B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Silent	SNP	ENST00000264867.2	37	c.1542C>T	CCDS3429.1																																																																																				0.413	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		28	112	0	0	0	1	0	28	112				
MYH1	4619	broad.mit.edu	37	17	10404677	10404677	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr17:10404677G>T	ENST00000226207.5	-	27	3582	c.3488C>A	c.(3487-3489)gCc>gAc	p.A1163D	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1163				A -> T (in Ref. 4; CAA27380). {ECO:0000305}.	muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTCAATCTGGGCTGAGGTGGC	0.637																																						ENST00000226207.5																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(3487-3489)gCc>gAc		myosin, heavy chain 1, skeletal muscle, adult							89.0	98.0	95.0					17																	10404677		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10404677G>T		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.3488C>A	17.37:g.10404677G>T	ENSP00000226207:p.Ala1163Asp					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.A1163D	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			27	3582	-			1163	A -> T (in Ref. 4; CAA27380).				Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.3488C>A	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.531475	0.85706	.	.	ENSG00000109061	ENST00000226207	D	0.82803	-1.65	5.51	5.51	0.81932	Myosin tail (1);	0.000000	0.42964	U	0.000638	D	0.93808	0.8020	H	0.96943	3.91	0.58432	D	0.999993	D	0.54207	0.965	P	0.58928	0.848	D	0.95343	0.8440	10	0.87932	D	0	.	19.7865	0.96442	0.0:0.0:1.0:0.0	.	1163	P12882	MYH1_HUMAN	D	1163	ENSP00000226207:A1163D	ENSP00000226207:A1163D	A	-	2	0	MYH1	10345402	0.997000	0.39634	0.997000	0.53966	0.998000	0.95712	3.813000	0.55636	2.751000	0.94390	0.650000	0.86243	GCC		0.637	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		39	195	1	0	8.01111e-26	1	9.34629e-26	39	195				
GREB1	9687	broad.mit.edu	37	2	11725952	11725952	+	Silent	SNP	A	A	T			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr2:11725952A>T	ENST00000381486.2	+	9	1380	c.1080A>T	c.(1078-1080)ccA>ccT	p.P360P	GREB1_ENST00000381483.2_Silent_p.P360P|GREB1_ENST00000263834.5_Silent_p.P360P|GREB1_ENST00000234142.5_Silent_p.P360P|RN7SL674P_ENST00000463397.2_RNA	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	360						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TCACCTTTCCAGTGGTGGCCT	0.507																																					Ovarian(39;850 945 2785 23371 33093)	ENST00000381486.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30						c.(1078-1080)ccA>ccT		growth regulation by estrogen in breast cancer 1							89.0	78.0	82.0					2																	11725952		2203	4300	6503	SO:0001819	synonymous_variant	9687					integral to membrane		g.chr2:11725952A>T		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.1080A>T	2.37:g.11725952A>T						GREB1_ENST00000381483.2_Silent_p.P360P|GREB1_ENST00000234142.5_Silent_p.P360P|GREB1_ENST00000263834.5_Silent_p.P360P	p.P360P	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	9	1380	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		360					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Silent	SNP	ENST00000381486.2	37	c.1080A>T	CCDS42655.1																																																																																				0.507	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		32	65	0	0	0	1	0	32	65				
PSMD14	10213	broad.mit.edu	37	2	162242001	162242001	+	Silent	SNP	C	C	A			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr2:162242001C>A	ENST00000409682.3	+	8	1193	c.489C>A	c.(487-489)atC>atA	p.I163I		NM_005805.5	NP_005796.1	O00487	PSDE_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 14	163					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of endopeptidase activity (GO:0010950)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K63-linked deubiquitination (GO:0070536)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle, lid subcomplex (GO:0008541)	endopeptidase activator activity (GO:0061133)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|proteasome binding (GO:0070628)|ubiquitin thiolesterase activity (GO:0004221)			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	12						TCAGATTGATCAATGCTAATA	0.363																																						ENST00000409682.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	12						c.(487-489)atC>atA		proteasome (prosome, macropain) 26S subunit, non-ATPase, 14							96.0	90.0	92.0					2																	162242001		1857	4106	5963	SO:0001819	synonymous_variant	10213				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K63-linked deubiquitination|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	endopeptidase activator activity|metal ion binding|metallopeptidase activity|proteasome binding|ubiquitin thiolesterase activity	g.chr2:162242001C>A	U86782	CCDS46437.1	2q14.3	2008-05-22			ENSG00000115233	ENSG00000115233		"""Proteasome (prosome, macropain) subunits"""	16889	protein-coding gene	gene with protein product		607173				9374539	Standard	NM_005805		Approved	POH1, pad1, Rpn11	uc002ubu.3	O00487	OTTHUMG00000153882	ENST00000409682.3:c.489C>A	2.37:g.162242001C>A							p.I163I	NM_005805.5	NP_005796.1	O00487	PSDE_HUMAN			8	1193	+			163					B3KNW2|O00176	Silent	SNP	ENST00000409682.3	37	c.489C>A	CCDS46437.1																																																																																				0.363	PSMD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332833.1	NM_005805		15	23	1	0	4.7546e-09	1	5.13753e-09	15	23				
ZIC2	7546	broad.mit.edu	37	13	100637229	100637229	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr13:100637229G>A	ENST00000376335.3	+	2	1398	c.1105G>A	c.(1105-1107)Ggc>Agc	p.G369S	ZIC2_ENST00000477213.1_3'UTR	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	369					brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGAGTTTGAGGGCTGCGACCG	0.612																																					Pancreas(97;119 1522 31925 44771 48764)	ENST00000376335.3																			0				large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1105-1107)Ggc>Agc		Zic family member 2							112.0	92.0	99.0					13																	100637229		2203	4300	6503	SO:0001583	missense	7546				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr13:100637229G>A	AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"""Zinc fingers, C2H2-type"""	12873	protein-coding gene	gene with protein product	"""Zinc finger protein of the cerebellum 2"""	603073	"""Zic family member 2 (odd-paired Drosophila homolog)"", ""Zic family member 2 (odd-paired homolog, Drosophila)"""			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.1105G>A	13.37:g.100637229G>A	ENSP00000365514:p.Gly369Ser					ZIC2_ENST00000477213.1_3'UTR	p.G369S	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN			2	1398	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		369					Q5VYA9|Q9H309	Missense_Mutation	SNP	ENST00000376335.3	37	c.1105G>A	CCDS9495.1	.	.	.	.	.	.	.	.	.	.	G	36	5.786503	0.96937	.	.	ENSG00000043355	ENST00000376335;ENST00000397444	T	0.57752	0.38	4.49	4.49	0.54785	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.59362	0.2188	N	0.17674	0.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65994	-0.6033	10	0.87932	D	0	.	16.4651	0.84076	0.0:0.0:1.0:0.0	.	369	O95409	ZIC2_HUMAN	S	369;118	ENSP00000365514:G369S	ENSP00000365514:G369S	G	+	1	0	ZIC2	99435230	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.526000	0.98042	2.457000	0.83068	0.655000	0.94253	GGC		0.612	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045618.2	NM_007129		16	33	0	0	0	1	0	16	33				
CCDC82	79780	broad.mit.edu	37	11	96117453	96117453	+	Silent	SNP	T	T	C			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr11:96117453T>C	ENST00000278520.5	-	3	887	c.459A>G	c.(457-459)ttA>ttG	p.L153L	CCDC82_ENST00000542662.1_Silent_p.L153L|CCDC82_ENST00000423339.2_Silent_p.L153L|CCDC82_ENST00000525786.1_5'Flank			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	153										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		CCTCTTGACTTAAATGTTTTT	0.323																																						ENST00000278520.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19						c.(457-459)ttA>ttG		coiled-coil domain containing 82							201.0	193.0	196.0					11																	96117453		2201	4298	6499	SO:0001819	synonymous_variant	79780						protein binding	g.chr11:96117453T>C	AF245436	CCDS8307.1	11q21	2006-03-09			ENSG00000149231	ENSG00000149231			26282	protein-coding gene	gene with protein product						12477932	Standard	NM_024725		Approved	FLJ23518	uc001pfx.4	Q8N4S0	OTTHUMG00000167678	ENST00000278520.5:c.459A>G	11.37:g.96117453T>C						CCDC82_ENST00000423339.2_Silent_p.L153L|CCDC82_ENST00000542662.1_Silent_p.L153L	p.L153L			Q8N4S0	CCD82_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.154)	3	887	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	153					B3KPU7|Q8WV71|Q9H2Q5|Q9H5E3	Silent	SNP	ENST00000278520.5	37	c.459A>G	CCDS8307.1																																																																																				0.323	CCDC82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395542.2	NM_024725		36	161	0	0	0	1	0	36	161				
TSGA10	80705	broad.mit.edu	37	2	99681511	99681511	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr2:99681511C>T	ENST00000393483.3	-	16	2139	c.1295G>A	c.(1294-1296)cGt>cAt	p.R432H	TSGA10_ENST00000355053.4_Missense_Mutation_p.R432H|TSGA10_ENST00000410001.1_Missense_Mutation_p.R432H|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000539964.1_Missense_Mutation_p.R432H	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	432					cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						CTCTGATTGACGGGCTTTATT	0.403																																						ENST00000393483.3																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						c.(1294-1296)cGt>cAt		testis specific, 10							153.0	143.0	146.0					2																	99681511		2203	4300	6503	SO:0001583	missense	80705				spermatogenesis	cytoplasm|nuclear membrane		g.chr2:99681511C>T	AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"""cancer/testis antigen 79"""	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.1295G>A	2.37:g.99681511C>T	ENSP00000377123:p.Arg432His					TSGA10_ENST00000410001.1_Missense_Mutation_p.R432H|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000539964.1_Missense_Mutation_p.R432H|TSGA10_ENST00000355053.4_Missense_Mutation_p.R432H	p.R432H	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN			16	2139	-			432					B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Missense_Mutation	SNP	ENST00000393483.3	37	c.1295G>A	CCDS2037.1	.	.	.	.	.	.	.	.	.	.	c	3.818	-0.038434	0.07497	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482	T;T;T;T;T;T	0.15256	2.44;2.44;2.44;2.44;2.44;2.44	5.3	3.48	0.39840	.	0.273381	0.30584	N	0.009309	T	0.04861	0.0131	N	0.01505	-0.83	0.80722	D	1	B	0.10296	0.003	B	0.04013	0.001	T	0.27839	-1.0062	10	0.09338	T	0.73	-4.1916	7.6274	0.28220	0.0:0.7447:0.0:0.2553	.	432	Q9BZW7	TSG10_HUMAN	H	432	ENSP00000377123:R432H;ENSP00000386956:R432H;ENSP00000347161:R432H;ENSP00000444419:R432H;ENSP00000386508:R432H;ENSP00000377122:R432H	ENSP00000347161:R432H	R	-	2	0	TSGA10	99047943	0.853000	0.29707	0.998000	0.56505	0.919000	0.55068	0.486000	0.22340	1.492000	0.48499	-0.196000	0.12772	CGT		0.403	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253125.1	NM_182911		39	124	0	0	0	1	0	39	124				
RHCG	51458	broad.mit.edu	37	15	90021122	90021122	+	Silent	SNP	G	G	T			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr15:90021122G>T	ENST00000268122.4	-	6	989	c.921C>A	c.(919-921)ctC>ctA	p.L307L	RHCG_ENST00000544600.1_Silent_p.L307L	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	307					amine transport (GO:0015837)|ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|cellular ion homeostasis (GO:0006873)|epithelial cell differentiation (GO:0030855)|homeostatic process (GO:0042592)|regulation of pH (GO:0006885)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					AGCCGATGATGAGGGCACCGT	0.617																																						ENST00000268122.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(919-921)ctC>ctA		Rh family, C glycoprotein							71.0	68.0	69.0					15																	90021122		2200	4299	6499	SO:0001819	synonymous_variant	51458				amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr15:90021122G>T	AF081497	CCDS10351.1	15q25	2013-05-22	2006-02-23		ENSG00000140519	ENSG00000140519		"""Solute carriers"""	18140	protein-coding gene	gene with protein product		605381	"""chromosome 15 open reading frame 6"", ""Rhesus blood group, C glycoprotein"""	C15orf6		10852913	Standard	NM_016321		Approved	RHGK, PDRC2, SLC42A3	uc002bnz.2	Q9UBD6	OTTHUMG00000149647	ENST00000268122.4:c.921C>A	15.37:g.90021122G>T						RHCG_ENST00000544600.1_Silent_p.L307L	p.L307L	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN			6	989	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		307					A8K4D4|Q6X3Y4	Silent	SNP	ENST00000268122.4	37	c.921C>A	CCDS10351.1																																																																																				0.617	RHCG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000312855.2	NM_016321		10	46	1	0	4.68919e-08	1	4.99973e-08	10	46				
FAM84B	157638	broad.mit.edu	37	8	127568878	127568878	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr8:127568878C>T	ENST00000304916.3	-	2	1212	c.757G>A	c.(757-759)Gag>Aag	p.E253K	RP11-89K10.1_ENST00000520512.1_RNA|RP11-89K10.1_ENST00000519880.1_RNA|FAM84B_ENST00000517458.1_5'Flank|RP11-103H7.5_ENST00000524320.1_RNA|RP11-89K10.1_ENST00000517773.1_RNA	NM_174911.4	NP_777571.1	Q96KN1	FA84B_HUMAN	family with sequence similarity 84, member B	253						cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)			CGTCGCTTCTCCATGATCAGG	0.682																																						ENST00000304916.3																			0				lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5						c.(757-759)Gag>Aag		family with sequence similarity 84, member B							15.0	17.0	16.0					8																	127568878		2181	4262	6443	SO:0001583	missense	157638					cytoplasm|plasma membrane	protein binding	g.chr8:127568878C>T	AJ417849	CCDS6358.1	8q24.13	2006-02-09				ENSG00000168672			24166	protein-coding gene	gene with protein product	"""breast cancer membrane-associated protein 101"", ""neurological/sensory 2"""	609483				12477722	Standard	NM_174911		Approved	BCMP101, NSE2	uc003yrz.2	Q96KN1		ENST00000304916.3:c.757G>A	8.37:g.127568878C>T	ENSP00000302578:p.Glu253Lys						p.E253K	NM_174911.4	NP_777571.1	Q96KN1	FA84B_HUMAN	STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)		2	1212	-	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		253						Missense_Mutation	SNP	ENST00000304916.3	37	c.757G>A	CCDS6358.1	.	.	.	.	.	.	.	.	.	.	C	18.95	3.732350	0.69189	.	.	ENSG00000168672	ENST00000304916	T	0.03212	4.01	4.84	4.84	0.62591	.	0.051510	0.85682	D	0.000000	T	0.09598	0.0236	M	0.65975	2.015	0.51012	D	0.999909	D	0.58620	0.983	P	0.47206	0.541	T	0.01706	-1.1291	10	0.87932	D	0	-23.8819	17.1689	0.86824	0.0:1.0:0.0:0.0	.	253	Q96KN1	FA84B_HUMAN	K	253	ENSP00000302578:E253K	ENSP00000302578:E253K	E	-	1	0	FAM84B	127638060	1.000000	0.71417	1.000000	0.80357	0.486000	0.33341	7.636000	0.83301	2.508000	0.84585	0.558000	0.71614	GAG		0.682	FAM84B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381487.1	NM_174911		9	10	0	0	0	1	0	9	10				
GRIN3B	116444	broad.mit.edu	37	19	1004615	1004615	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr19:1004615G>T	ENST00000234389.3	+	3	1134	c.1115G>T	c.(1114-1116)aGc>aTc	p.S372I	GRIN3B_ENST00000588335.1_Intron|AC004528.4_ENST00000588380.1_RNA	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	372					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AAGGTGTGGAGCCTTCGCCGG	0.706																																						ENST00000234389.3																			0				breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(1114-1116)aGc>aTc		glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)						16.0	16.0	16.0					19																	1004615		2175	4262	6437	SO:0001583	missense	116444				ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity	g.chr19:1004615G>T		CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.1115G>T	19.37:g.1004615G>T	ENSP00000234389:p.Ser372Ile					GRIN3B_ENST00000588335.1_Intron	p.S372I	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	1134	+		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)	372					Q5EAK7|Q7RTW9	Missense_Mutation	SNP	ENST00000234389.3	37	c.1115G>T	CCDS32861.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.267454	0.40095	.	.	ENSG00000116032	ENST00000234389	D	0.86097	-2.07	4.71	4.71	0.59529	.	0.676525	0.15778	N	0.245062	D	0.91219	0.7233	M	0.66939	2.045	0.36402	D	0.863172	D	0.76494	0.999	D	0.83275	0.996	D	0.91768	0.5425	10	0.35671	T	0.21	.	16.2628	0.82557	0.0:0.0:1.0:0.0	.	372	O60391	NMD3B_HUMAN	I	372	ENSP00000234389:S372I	ENSP00000234389:S372I	S	+	2	0	GRIN3B	955615	1.000000	0.71417	0.997000	0.53966	0.635000	0.38103	2.107000	0.41844	2.178000	0.69098	0.479000	0.44913	AGC		0.706	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2			3	8	1	0	0.115264	1	0.115264	3	8				
FGB	2244	broad.mit.edu	37	4	155487770	155487770	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr4:155487770C>T	ENST00000302068.4	+	3	499	c.436C>T	c.(436-438)Cag>Tag	p.Q146*	FGB_ENST00000509493.1_Intron|FGB_ENST00000502545.1_3'UTR	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	146				FQ -> QF (in Ref. 10; AA sequence, 11; AA sequence and 12; AA sequence). {ECO:0000305}.	blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|cellular response to interleukin-1 (GO:0071347)|cellular response to leptin stimulus (GO:0044320)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	chaperone binding (GO:0051087)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TTCTTCCTTTCAGTACATGTA	0.403																																					NSCLC(106;1133 1613 21870 46110 52656)	ENST00000302068.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(436-438)Cag>Tag		fibrinogen beta chain	Sucralfate(DB00364)						144.0	139.0	141.0					4																	155487770		2203	4300	6503	SO:0001587	stop_gained	2244				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155487770C>T		CCDS3786.1	4q28	2014-09-17			ENSG00000171564	ENSG00000171564		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3662	protein-coding gene	gene with protein product		134830	"""fibrinogen, B beta polypeptide"""				Standard	NM_005141		Approved		uc003ioa.4	P02675	OTTHUMG00000150331	ENST00000302068.4:c.436C>T	4.37:g.155487770C>T	ENSP00000306099:p.Gln146*					FGB_ENST00000502545.1_3'UTR|FGB_ENST00000509493.1_Intron	p.Q146*	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN			3	499	+	all_hematologic(180;0.215)	Renal(120;0.0458)	146	FQ -> QF (in Ref. 10; AA sequence, 11; AA sequence and 12; AA sequence).				A0JLR9|B2R7G3|Q32Q65|Q3KPF2	Nonsense_Mutation	SNP	ENST00000302068.4	37	c.436C>T	CCDS3786.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.807529	0.31961	.	.	ENSG00000171564	ENST00000302068;ENST00000537843	.	.	.	5.14	0.973	0.19710	.	1.001370	0.08050	N	0.996478	.	.	.	.	.	.	0.18873	N	0.999984	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	12.5484	0.56214	0.5732:0.4268:0.0:0.0	.	.	.	.	X	146;129	.	ENSP00000306099:Q146X	Q	+	1	0	FGB	155707220	0.001000	0.12720	0.053000	0.19242	0.268000	0.26511	-0.527000	0.06200	0.219000	0.20840	0.557000	0.71058	CAG		0.403	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317595.1	NM_005141		25	53	0	0	0	1	0	25	53				
ST6GAL2	84620	broad.mit.edu	37	2	107446571	107446571	+	Silent	SNP	C	C	T			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr2:107446571C>T	ENST00000409382.3	-	5	1879	c.1269G>A	c.(1267-1269)gaG>gaA	p.E423E	ST6GAL2_ENST00000361686.4_Silent_p.E423E|ST6GAL2_ENST00000409087.3_Silent_p.E423E	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	423					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)	p.E423D(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CTTTAGTGTTCTCCTGGATAA	0.388																																						ENST00000409382.3																			1	Substitution - Missense(1)	p.E423D(1)	lung(1)	autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						c.(1267-1269)gaG>gaA		ST6 beta-galactosamide alpha-2,6-sialyltranferase 2							120.0	125.0	124.0					2																	107446571		2203	4300	6503	SO:0001819	synonymous_variant	84620				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr2:107446571C>T	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.1269G>A	2.37:g.107446571C>T						ST6GAL2_ENST00000361686.4_Silent_p.E423E|ST6GAL2_ENST00000409087.3_Silent_p.E423E	p.E423E	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN			5	1879	-			423					D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Silent	SNP	ENST00000409382.3	37	c.1269G>A	CCDS2073.1																																																																																				0.388	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		30	89	0	0	0	1	0	30	89				
WWC3	55841	broad.mit.edu	37	X	10084513	10084513	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chrX:10084513C>T	ENST00000380861.4	+	10	1421	c.1030C>T	c.(1030-1032)Cgc>Tgc	p.R344C	WWC3_ENST00000454666.1_Missense_Mutation_p.R344C	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	344					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						AGAAGCCACCCGCTTAACATC	0.413																																						ENST00000380861.4																			0				NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						c.(1030-1032)Cgc>Tgc		WWC family member 3							168.0	160.0	163.0					X																	10084513		2203	4300	6503	SO:0001583	missense	55841							g.chrX:10084513C>T	AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"""WW, C2 and coiled-coil domain containing"""	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.1030C>T	X.37:g.10084513C>T	ENSP00000370242:p.Arg344Cys					WWC3_ENST00000454666.1_Missense_Mutation_p.R344C	p.R344C	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN			10	1421	+			344					A8KA96|Q659C1|Q9BTQ1	Missense_Mutation	SNP	ENST00000380861.4	37	c.1030C>T	CCDS14136.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.211189	0.58343	.	.	ENSG00000047644	ENST00000380861;ENST00000454666;ENST00000543293;ENST00000398613	T;T	0.46451	0.87;0.87	5.35	4.47	0.54385	.	0.156959	0.56097	D	0.000024	T	0.63721	0.2535	M	0.82323	2.585	0.54753	D	0.999982	D	0.89917	1.0	D	0.68943	0.961	T	0.67413	-0.5677	10	0.87932	D	0	-9.6683	10.3162	0.43738	0.152:0.7047:0.1433:0.0	.	344	Q9ULE0	WWC3_HUMAN	C	344;344;8;344	ENSP00000370242:R344C;ENSP00000399584:R344C	ENSP00000370242:R344C	R	+	1	0	WWC3	10044513	1.000000	0.71417	0.081000	0.20488	0.679000	0.39708	5.279000	0.65597	1.025000	0.39708	0.585000	0.79938	CGC		0.413	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691		25	58	0	0	0	1	0	25	58				
PRAMEF2	65122	broad.mit.edu	37	1	12919923	12919923	+	Silent	SNP	A	A	T			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr1:12919923A>T	ENST00000240189.2	+	3	750	c.663A>T	c.(661-663)atA>atT	p.I221I		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	221					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CACATCTGATAAGAAAGCTTT	0.383																																						ENST00000240189.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42						c.(661-663)atA>atT		PRAME family member 2							100.0	106.0	104.0					1																	12919923		2202	4293	6495	SO:0001819	synonymous_variant	65122							g.chr1:12919923A>T		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"""-"""	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.663A>T	1.37:g.12919923A>T							p.I221I	NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	750	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	221						Silent	SNP	ENST00000240189.2	37	c.663A>T	CCDS149.1																																																																																				0.383	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		53	213	0	0	0	1	0	53	213				
MFSD4	148808	broad.mit.edu	37	1	205548961	205548961	+	Missense_Mutation	SNP	G	G	A	rs545692163		TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr1:205548961G>A	ENST00000367147.4	+	2	406	c.313G>A	c.(313-315)Gtg>Atg	p.V105M	MFSD4_ENST00000536357.1_Missense_Mutation_p.V105M|MFSD4_ENST00000539267.1_Missense_Mutation_p.V105M	NM_181644.4	NP_857595.3	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing 4	105					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			CTGCCGCGACGTGAAGGTGCT	0.627																																						ENST00000367147.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(313-315)Gtg>Atg		major facilitator superfamily domain containing 4							159.0	129.0	139.0					1																	205548961		2203	4300	6503	SO:0001583	missense	148808				transmembrane transport	integral to membrane		g.chr1:205548961G>A	BC036549	CCDS1455.1	1q32.1	2008-02-05			ENSG00000174514	ENSG00000174514			25433	protein-coding gene	gene with protein product							Standard	NM_181644		Approved	DKFZp761N1114, FLJ34577, UNQ3064, FLJ25004	uc001hcv.4	Q8N468	OTTHUMG00000037197	ENST00000367147.4:c.313G>A	1.37:g.205548961G>A	ENSP00000356115:p.Val105Met					MFSD4_ENST00000539267.1_Missense_Mutation_p.V105M|MFSD4_ENST00000536357.1_Missense_Mutation_p.V105M	p.V105M	NM_181644.4	NP_857595.3	Q8N468	MFSD4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0908)		2	406	+	Breast(84;0.07)		105					B7Z8X3|Q6UY25|Q8NAY0|Q8TCP4	Missense_Mutation	SNP	ENST00000367147.4	37	c.313G>A	CCDS1455.1	.	.	.	.	.	.	.	.	.	.	G	12.88	2.069444	0.36470	.	.	ENSG00000174514	ENST00000367147;ENST00000539267;ENST00000536357	D;D;D	0.81659	-1.52;-1.52;-1.52	3.9	3.9	0.45041	Major facilitator superfamily domain, general substrate transporter (1);	0.065961	0.64402	D	0.000011	D	0.88213	0.6376	M	0.71581	2.175	0.40158	D	0.977032	D;D;D	0.89917	1.0;0.998;1.0	D;P;D	0.91635	0.999;0.851;0.986	D	0.89778	0.3959	10	0.59425	D	0.04	-12.4557	14.6542	0.68820	0.0:0.0:1.0:0.0	.	50;105;105	B7Z8X0;B7Z8X3;Q8N468	.;.;MFSD4_HUMAN	M	105	ENSP00000356115:V105M;ENSP00000445329:V105M;ENSP00000440183:V105M	ENSP00000356115:V105M	V	+	1	0	MFSD4	203815584	1.000000	0.71417	0.886000	0.34754	0.241000	0.25554	3.366000	0.52343	2.029000	0.59856	0.549000	0.68633	GTG		0.627	MFSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090391.1	NM_181644		23	78	0	0	0	1	0	23	78				
TCF3	6929	broad.mit.edu	37	19	1619317	1619317	+	Silent	SNP	G	G	A	rs553896459		TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr19:1619317G>A	ENST00000262965.5	-	15	1668	c.1324C>T	c.(1324-1326)Ctg>Ttg	p.L442L	RNU6-1223P_ENST00000517124.1_RNA|TCF3_ENST00000395423.3_Silent_p.L391L|TCF3_ENST00000588136.1_Silent_p.L442L|TCF3_ENST00000344749.5_Silent_p.L442L|TCF3_ENST00000453954.2_Silent_p.L358L	NM_003200.3	NP_003191.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGCTCACCAGGCCTGCGTGC	0.741			T	"""PBX1, HLF, TFPT"""	pre B-ALL								G|||	1	0.000199681	0.0008	0.0	5008	,	,		13570	0.0		0.0	False		,,,				2504	0.0					ENST00000262965.5				Dom	yes		19	19p13.3	6929	T	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)			L	"""PBX1, HLF, TFPT"""		pre B-ALL		0				breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16						c.(1324-1326)Ctg>Ttg		transcription factor 3							12.0	15.0	14.0					19																	1619317		2157	4189	6346	SO:0001819	synonymous_variant	6929				B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding	g.chr19:1619317G>A	M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"""Basic helix-loop-helix proteins"""	11633	protein-coding gene	gene with protein product	"""transcription factor E2-alpha"", ""immunoglobulin transcription factor 1"", ""kappa-E2-binding factor"", ""E2A immunoglobulin enhancer-binding factor E12/E47"", ""VDR interacting repressor"""	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000262965.5:c.1324C>T	19.37:g.1619317G>A						TCF3_ENST00000453954.2_Silent_p.L358L|TCF3_ENST00000344749.5_Silent_p.L442L|TCF3_ENST00000588136.1_Silent_p.L442L|TCF3_ENST00000395423.3_Silent_p.L391L	p.L442L	NM_003200.3	NP_003191.1	P15923	TFE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	15	1668	-		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)	442					Q53R97|Q6PD70|Q9NP00	Silent	SNP	ENST00000262965.5	37	c.1324C>T	CCDS12074.1																																																																																				0.741	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449367.1	NM_003200		4	4	0	0	0	1	0	4	4				
ST6GAL2	84620	broad.mit.edu	37	2	107460189	107460189	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr2:107460189C>T	ENST00000409382.3	-	2	855	c.245G>A	c.(244-246)cGc>cAc	p.R82H	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.R82H|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.R82H|AC016994.2_ENST00000425419.1_RNA	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	82					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TGGGTGGGCGCGGGGCAGCGC	0.657																																						ENST00000409382.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						c.(244-246)cGc>cAc		ST6 beta-galactosamide alpha-2,6-sialyltranferase 2							20.0	25.0	23.0					2																	107460189		2143	4196	6339	SO:0001583	missense	84620				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr2:107460189C>T	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.245G>A	2.37:g.107460189C>T	ENSP00000386942:p.Arg82His					ST6GAL2_ENST00000361686.4_Missense_Mutation_p.R82H|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.R82H	p.R82H	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN			2	855	-			82					D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	ENST00000409382.3	37	c.245G>A	CCDS2073.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.369488	0.61624	.	.	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	T;T;T	0.32023	2.49;2.49;1.47	5.27	-5.44	0.02624	.	1.470680	0.03406	N	0.204017	T	0.18759	0.0450	N	0.19112	0.55	0.09310	N	1	D;P	0.55385	0.971;0.855	B;B	0.41723	0.365;0.2	T	0.36237	-0.9756	10	0.44086	T	0.13	0.8406	8.3395	0.32235	0.0:0.1313:0.2358:0.6329	.	82;82	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	H	82	ENSP00000355273:R82H;ENSP00000386942:R82H;ENSP00000387332:R82H	ENSP00000355273:R82H	R	-	2	0	ST6GAL2	106826621	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.527000	0.06200	-0.986000	0.03498	-0.300000	0.09419	CGC		0.657	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		19	57	0	0	0	1	0	19	57				
MMP12	4321	broad.mit.edu	37	11	102736639	102736639	+	RNA	SNP	A	A	C			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr11:102736639A>C	ENST00000532855.1	-	0	1168							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	CTCTGGTCTTAAATTGCTAAT	0.299																																						ENST00000532855.1																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26								matrix metallopeptidase 12 (macrophage elastase)	Acetohydroxamic Acid(DB00551)						65.0	64.0	64.0					11																	102736639		1795	4055	5850			4321				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102736639A>C	L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102736639A>C										P39900	MMP12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.014)	0	1168	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)						B2R9X8|B7ZLF6|Q2M1L9	RNA	SNP	ENST00000532855.1	37																																																																																						0.299	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426		9	31	0	0	0	1	0	9	31				
BRCA2	675	broad.mit.edu	37	13	32912648	32912648	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr13:32912648G>A	ENST00000380152.3	+	11	4389	c.4156G>A	c.(4156-4158)Gat>Aat	p.D1386N	BRCA2_ENST00000544455.1_Missense_Mutation_p.D1386N			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1386	Interaction with POLH.				brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AGATTTGTCAGATTTAACTTT	0.338			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 2			"""L, E"""		"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(4156-4158)Gat>Aat	Homologous recombination	breast cancer 2, early onset							71.0	75.0	73.0					13																	32912648		2203	4298	6501	SO:0001583	missense	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32912648G>A	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.4156G>A	13.37:g.32912648G>A	ENSP00000369497:p.Asp1386Asn	TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Missense_Mutation_p.D1386N	p.D1386N	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	4383	+		Lung SC(185;0.0262)	1386					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.4156G>A	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.723744	0.68959	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.01068	5.38;5.38	5.95	5.95	0.96441	.	0.081433	0.52532	D	0.000068	T	0.06600	0.0169	M	0.76002	2.32	0.34194	D	0.672442	D	0.89917	1.0	D	0.74674	0.984	T	0.02533	-1.1145	10	0.56958	D	0.05	.	15.0036	0.71495	0.0:0.0:0.8583:0.1417	.	1386	P51587	BRCA2_HUMAN	N	1386	ENSP00000369497:D1386N;ENSP00000439902:D1386N	ENSP00000369497:D1386N	D	+	1	0	BRCA2	31810648	1.000000	0.71417	1.000000	0.80357	0.633000	0.38033	4.372000	0.59530	2.817000	0.96982	0.563000	0.77884	GAT		0.338	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		14	37	0	0	0	1	0	14	37				
ZIC3	7547	broad.mit.edu	37	X	136649786	136649786	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chrX:136649786G>T	ENST00000287538.5	+	1	1486	c.936G>T	c.(934-936)aaG>aaT	p.K312N	ZIC3_ENST00000370606.3_Missense_Mutation_p.K312N	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	312	Nuclear localization signal.				anterior/posterior pattern specification (GO:0009952)|cell differentiation (GO:0030154)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of left/right asymmetry in nervous system (GO:0035545)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|heart looping (GO:0001947)|lung development (GO:0030324)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					TCAAGGCGAAGTACAAACTGG	0.602																																						ENST00000287538.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37						c.(934-936)aaG>aaT		Zic family member 3							73.0	81.0	78.0					X																	136649786		2203	4300	6503	SO:0001583	missense	7547				cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:136649786G>T	AF028706	CCDS14663.1	Xq24-q27.1	2013-01-08	2011-05-19		ENSG00000156925	ENSG00000156925		"""Zinc fingers, C2H2-type"""	12874	protein-coding gene	gene with protein product		300265	"""heterotaxy 1"", ""Zic family member 3 (odd-paired homolog, Drosophila)"""	HTX1		8298651, 7747776	Standard	NM_003413		Approved	HTX, ZNF203	uc004fak.3	O60481	OTTHUMG00000022525	ENST00000287538.5:c.936G>T	X.37:g.136649786G>T	ENSP00000287538:p.Lys312Asn					ZIC3_ENST00000370606.3_Missense_Mutation_p.K312N	p.K312N	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN			1	1486	+	Acute lymphoblastic leukemia(192;0.000127)		312			Nuclear localization signal.		B2CNW4|Q14DE5|Q5JY75	Missense_Mutation	SNP	ENST00000287538.5	37	c.936G>T	CCDS14663.1	.	.	.	.	.	.	.	.	.	.	g	16.84	3.234968	0.58886	.	.	ENSG00000156925	ENST00000287538;ENST00000370606	D;D	0.91740	-2.9;-2.9	4.73	3.78	0.43462	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.104085	0.64402	D	0.000003	D	0.95906	0.8667	M	0.92026	3.265	0.51767	D	0.999934	D	0.89917	1.0	D	0.91635	0.999	D	0.95379	0.8471	10	0.87932	D	0	.	6.8231	0.23868	0.1959:0.0:0.8041:0.0	.	312	O60481	ZIC3_HUMAN	N	312	ENSP00000287538:K312N;ENSP00000359638:K312N	ENSP00000287538:K312N	K	+	3	2	ZIC3	136477452	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.124000	0.50461	2.180000	0.69256	0.592000	0.82586	AAG		0.602	ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058526.1			86	25	1	0	1.42479e-40	1	1.68669e-40	86	25				
SLC9A4	389015	broad.mit.edu	37	2	103142788	103142788	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr2:103142788G>T	ENST00000295269.4	+	11	2478	c.2021G>T	c.(2020-2022)aGg>aTg	p.R674M		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	674					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						AGAGACACAAGGGCTGCTGGG	0.537																																						ENST00000295269.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2020-2022)aGg>aTg		solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4							112.0	102.0	105.0					2																	103142788		2203	4300	6503	SO:0001583	missense	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103142788G>T		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.2021G>T	2.37:g.103142788G>T	ENSP00000295269:p.Arg674Met						p.R674M	NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN			11	2478	+			674					Q69YK0	Missense_Mutation	SNP	ENST00000295269.4	37	c.2021G>T	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	G	10.97	1.502194	0.26949	.	.	ENSG00000180251	ENST00000295269	T	0.46063	0.88	5.8	1.04	0.20106	.	1.070930	0.06997	N	0.822610	T	0.43478	0.1249	M	0.69823	2.125	0.09310	N	1	P	0.45348	0.856	B	0.41946	0.371	T	0.32877	-0.9890	10	0.29301	T	0.29	.	9.0818	0.36556	0.36:0.0:0.64:0.0	.	674	Q6AI14	SL9A4_HUMAN	M	674	ENSP00000295269:R674M	ENSP00000295269:R674M	R	+	2	0	SLC9A4	102509220	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	1.218000	0.32467	-0.082000	0.12640	-0.736000	0.03550	AGG		0.537	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		18	65	1	0	2.35188e-11	1	2.6114e-11	18	65				
DCST1	149095	broad.mit.edu	37	1	155020374	155020374	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr1:155020374G>A	ENST00000295542.1	+	15	1820	c.1724G>A	c.(1723-1725)cGg>cAg	p.R575Q	DCST1_ENST00000423025.2_Missense_Mutation_p.R550Q|RP11-307C12.11_ENST00000452962.1_RNA|DCST1_ENST00000392480.1_Missense_Mutation_p.R575Q|DCST1_ENST00000368419.2_Missense_Mutation_p.R575Q	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	575						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TACCGACTCCGGAGGGTCATC	0.602																																						ENST00000295542.1																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27						c.(1723-1725)cGg>cAg		DC-STAMP domain containing 1							108.0	115.0	112.0					1																	155020374		2203	4300	6503	SO:0001583	missense	149095					integral to membrane	zinc ion binding	g.chr1:155020374G>A	AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357			26539	protein-coding gene	gene with protein product							Standard	NM_152494		Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.1724G>A	1.37:g.155020374G>A	ENSP00000295542:p.Arg575Gln					DCST1_ENST00000368419.2_Missense_Mutation_p.R575Q|DCST1_ENST00000392480.1_Missense_Mutation_p.R575Q|DCST1_ENST00000423025.2_Missense_Mutation_p.R550Q	p.R575Q	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)		15	1820	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		575					B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Missense_Mutation	SNP	ENST00000295542.1	37	c.1724G>A	CCDS1083.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.681873	0.88542	.	.	ENSG00000163357	ENST00000295542;ENST00000392480;ENST00000423025;ENST00000368419	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	5.22	5.22	0.72569	Dendritic cell-specific transmembrane protein-like (1);	0.000000	0.64402	D	0.000002	T	0.61135	0.2323	M	0.78456	2.415	0.40413	D	0.97976	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.66040	-0.6022	10	0.62326	D	0.03	-32.684	12.0887	0.53713	0.0:0.1734:0.8266:0.0	.	550;575	E9PHV3;Q5T197	.;DCST1_HUMAN	Q	575;575;550;575	ENSP00000295542:R575Q;ENSP00000376271:R575Q;ENSP00000387369:R550Q;ENSP00000357404:R575Q	ENSP00000295542:R575Q	R	+	2	0	DCST1	153286998	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	3.785000	0.55424	2.428000	0.82296	0.591000	0.81541	CGG		0.602	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099006.1	NM_152494		12	51	0	0	0	1	0	12	51				
OBSCN	84033	broad.mit.edu	37	1	228469780	228469780	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr1:228469780C>T	ENST00000422127.1	+	31	8388	c.8344C>T	c.(8344-8346)Cgc>Tgc	p.R2782C	OBSCN_ENST00000284548.11_Missense_Mutation_p.R2782C|OBSCN_ENST00000359599.6_Missense_Mutation_p.R1629C|OBSCN_ENST00000570156.2_Missense_Mutation_p.R3211C|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2782	Ig-like 27.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGCTCCAGCCGCTTCCAGGC	0.642																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(9631-9633)Cgc>Tgc		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							30.0	37.0	34.0					1																	228469780		2066	4207	6273	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228469780C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.8344C>T	1.37:g.228469780C>T	ENSP00000409493:p.Arg2782Cys					OBSCN_ENST00000422127.1_Missense_Mutation_p.R2782C|OBSCN_ENST00000284548.11_Missense_Mutation_p.R2782C|OBSCN_ENST00000359599.6_Missense_Mutation_p.R1629C|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR	p.R3211C	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			36	9705	+		Prostate(94;0.0405)	2245			Ig-like 32.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.9631C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.384291	0.61845	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599;ENST00000366706;ENST00000366704	T;T;T	0.53206	0.63;0.63;0.63	4.45	4.45	0.53987	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.159083	0.42420	D	0.000713	T	0.72203	0.3431	M	0.88775	2.98	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.917;0.987	T	0.77723	-0.2481	10	0.56958	D	0.05	.	14.021	0.64555	0.1515:0.8485:0.0:0.0	.	2782;2782;2782	Q5VST9;Q5VST9-2;Q5VST9-3	OBSCN_HUMAN;.;.	C	2782;2782;1629;481;188	ENSP00000284548:R2782C;ENSP00000409493:R2782C;ENSP00000352613:R1629C	ENSP00000284548:R2782C	R	+	1	0	OBSCN	226536403	0.999000	0.42202	0.993000	0.49108	0.096000	0.18686	3.721000	0.54941	2.181000	0.69327	0.462000	0.41574	CGC		0.642	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		3	31	0	0	0	1	0	3	31				
JAG2	3714	broad.mit.edu	37	14	105615349	105615349	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr14:105615349G>A	ENST00000331782.3	-	14	2234	c.1831C>T	c.(1831-1833)Cgc>Tgc	p.R611C	JAG2_ENST00000347004.2_Missense_Mutation_p.R573C	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	611	EGF-like 10; atypical. {ECO:0000255|PROSITE-ProRule:PRU00076}.				auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CTGACGCAGCGTCCATGGGGG	0.642																																						ENST00000331782.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22						c.(1831-1833)Cgc>Tgc		jagged 2							16.0	17.0	16.0					14																	105615349		2187	4282	6469	SO:0001583	missense	3714				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	g.chr14:105615349G>A	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.1831C>T	14.37:g.105615349G>A	ENSP00000328169:p.Arg611Cys					JAG2_ENST00000347004.2_Missense_Mutation_p.R573C	p.R611C	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	14	2234	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	611			EGF-like 10; atypical.		Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Missense_Mutation	SNP	ENST00000331782.3	37	c.1831C>T	CCDS9998.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.621543	0.66787	.	.	ENSG00000184916	ENST00000331782;ENST00000347004	T;T	0.55413	0.52;0.52	4.34	4.34	0.51931	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.259571	0.38720	N	0.001591	T	0.64294	0.2585	L	0.58810	1.83	0.44388	D	0.997296	D;D	0.65815	0.995;0.969	P;B	0.58454	0.839;0.412	T	0.69339	-0.5171	10	0.87932	D	0	.	14.7389	0.69437	0.0:0.0:1.0:0.0	.	573;611	Q9Y219-2;Q9Y219	.;JAG2_HUMAN	C	611;573	ENSP00000328169:R611C;ENSP00000328566:R573C	ENSP00000328169:R611C	R	-	1	0	JAG2	104686394	0.670000	0.27512	0.999000	0.59377	0.024000	0.10985	2.207000	0.42788	2.126000	0.65437	0.555000	0.69702	CGC		0.642	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2			6	14	0	0	0	1	0	6	14				
NLGN1	22871	broad.mit.edu	37	3	173998438	173998438	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr3:173998438G>T	ENST00000457714.1	+	7	2246	c.1817G>T	c.(1816-1818)tGg>tTg	p.W606L	NLGN1_ENST00000361589.4_Missense_Mutation_p.W606L|NLGN1_ENST00000401917.3_Missense_Mutation_p.W646L|NLGN1_ENST00000545397.1_Missense_Mutation_p.W606L	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	623					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GTGAACCTCTGGTTGGAGTTG	0.398																																						ENST00000457714.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(1816-1818)tGg>tTg		neuroligin 1							123.0	120.0	121.0					3																	173998438		2203	4300	6503	SO:0001583	missense	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173998438G>T	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.1817G>T	3.37:g.173998438G>T	ENSP00000392500:p.Trp606Leu					NLGN1_ENST00000545397.1_Missense_Mutation_p.W606L|NLGN1_ENST00000401917.3_Missense_Mutation_p.W646L|NLGN1_ENST00000361589.4_Missense_Mutation_p.W606L	p.W606L	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		7	2246	+	Ovarian(172;0.0025)		623					Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	c.1817G>T	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.614678	0.66672	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.86276	0.5894	M	0.84082	2.675	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87344	0.2333	10	0.87932	D	0	.	19.961	0.97250	0.0:0.0:1.0:0.0	.	606	Q8N2Q7-2	.	L	606;606;606;646	ENSP00000392500:W606L;ENSP00000354541:W606L;ENSP00000441108:W606L;ENSP00000385750:W646L	ENSP00000354541:W606L	W	+	2	0	NLGN1	175481132	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.407000	0.73280	2.783000	0.95769	0.655000	0.94253	TGG		0.398	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		42	128	1	0	1.22674e-20	1	1.4209e-20	42	128				
CYLC1	1538	broad.mit.edu	37	X	83128916	83128916	+	Silent	SNP	A	A	C			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chrX:83128916A>C	ENST00000329312.4	+	4	1237	c.1200A>C	c.(1198-1200)gcA>gcC	p.A400A		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	400					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						AAAAGGATGCAAAGAAAATTA	0.328																																						ENST00000329312.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(1198-1200)gcA>gcC		cylicin, basic protein of sperm head cytoskeleton 1							28.0	23.0	25.0					X																	83128916		2194	4287	6481	SO:0001819	synonymous_variant	1538				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	g.chrX:83128916A>C	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.1200A>C	X.37:g.83128916A>C							p.A400A	NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN			4	1237	+			400					A0AVQ8|Q5JQQ9	Silent	SNP	ENST00000329312.4	37	c.1200A>C	CCDS35341.1																																																																																				0.328	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		4	12	0	0	0	1	0	4	12				
CACNA1C	775	broad.mit.edu	37	12	2783763	2783763	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr12:2783763C>T	ENST00000347598.4	+	41	4927	c.4927C>T	c.(4927-4929)Cgg>Tgg	p.R1643W	CACNA1C_ENST00000399601.1_Missense_Mutation_p.R1595W|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R1595W|CACNA1C_ENST00000402845.3_Missense_Mutation_p.R1614W|CACNA1C_ENST00000399606.1_Missense_Mutation_p.R1615W|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R1601W|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R1595W|CACNA1C_ENST00000327702.7_Missense_Mutation_p.R1595W|CACNA1C_ENST00000399641.1_Missense_Mutation_p.R1595W|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R1623W|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R1595W|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R1603W|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R1614W|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R1614W|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R1612W|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R1595W|CACNA1C-AS2_ENST00000545526.1_RNA|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R1603W|CACNA1C_ENST00000399655.1_Missense_Mutation_p.R1595W|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R1595W|CACNA1C_ENST00000344100.3_Missense_Mutation_p.R1636W|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R1595W|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R1620W	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1643					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GATCTGGAAGCGGACCAGCAT	0.632																																						ENST00000399655.1																			0				NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.(4783-4785)Cgg>Tgg		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						27.0	34.0	32.0					12																	2783763		2195	4291	6486	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2783763C>T	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.4927C>T	12.37:g.2783763C>T	ENSP00000266376:p.Arg1643Trp					CACNA1C_ENST00000335762.5_Missense_Mutation_p.R1620W|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R1603W|CACNA1C_ENST00000402845.3_Missense_Mutation_p.R1614W|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R1614W|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R1595W|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R1623W|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R1595W|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R1595W|CACNA1C_ENST00000327702.7_Missense_Mutation_p.R1595W|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R1601W|CACNA1C_ENST00000399641.1_Missense_Mutation_p.R1595W|CACNA1C_ENST00000344100.3_Missense_Mutation_p.R1636W|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R1612W|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R1614W|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R1595W|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R1595W|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R1595W|CACNA1C_ENST00000347598.4_Missense_Mutation_p.R1643W|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R1595W|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R1603W|CACNA1C_ENST00000399606.1_Missense_Mutation_p.R1615W	p.R1595W	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	39	5048	+			1643					B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.4783C>T	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.882546	0.72294	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97114	-4.14;-4.14;-4.14;-4.13;-4.13;-4.2;-4.1;-4.13;-4.14;-4.06;-4.06;-4.14;-4.25;-4.04;-3.96;-4.25;-4.19;-4.13;-4.13;-4.06;-4.13;-4.24	4.39	2.45	0.29901	.	0.000000	0.64402	D	0.000001	D	0.98124	0.9381	M	0.83852	2.665	0.58432	D	0.999995	D;D;D;D;D;D;D;D;D;D;D;D;P;D;D;D;P;D;D;D;D;D;D;D;D	0.89917	0.994;0.999;0.999;0.978;0.999;0.999;0.999;0.999;0.999;0.999;0.999;1.0;0.943;0.999;0.996;0.96;0.956;1.0;0.999;1.0;1.0;0.999;1.0;1.0;1.0	P;D;D;P;D;D;D;D;P;D;D;D;P;D;P;P;B;D;D;D;D;D;D;D;D	0.91635	0.656;0.924;0.916;0.656;0.924;0.944;0.923;0.944;0.888;0.977;0.944;0.996;0.742;0.973;0.712;0.656;0.401;0.992;0.944;0.988;0.992;0.944;0.999;0.996;0.984	D	0.97979	1.0348	10	0.87932	D	0	.	11.813	0.52194	0.477:0.523:0.0:0.0	.	286;1636;1592;1643;1595;1614;1595;1612;1623;1595;1615;1595;1555;1643;1595;1595;1595;1603;1601;1603;1584;1614;1614;1595;1595	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	W	1620;1595;1595;1623;1595;1614;1614;1603;1595;1643;1615;1595;1636;1612;1595;1601;1614;1595;1595;1595;1595;1603;1425	ENSP00000336982:R1620W;ENSP00000382563:R1595W;ENSP00000382552:R1595W;ENSP00000382547:R1623W;ENSP00000382506:R1595W;ENSP00000382530:R1614W;ENSP00000382546:R1614W;ENSP00000382500:R1603W;ENSP00000382549:R1595W;ENSP00000266376:R1643W;ENSP00000382515:R1615W;ENSP00000382510:R1595W;ENSP00000341092:R1636W;ENSP00000382537:R1612W;ENSP00000329877:R1595W;ENSP00000382557:R1601W;ENSP00000385724:R1614W;ENSP00000382512:R1595W;ENSP00000382542:R1595W;ENSP00000382526:R1595W;ENSP00000385896:R1595W;ENSP00000382504:R1603W	ENSP00000323129:R1425W	R	+	1	2	CACNA1C	2654024	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	1.752000	0.38349	0.404000	0.25506	0.563000	0.77884	CGG		0.632	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		4	21	0	0	0	1	0	4	21				
APOB	338	broad.mit.edu	37	2	21252782	21252782	+	Silent	SNP	A	A	G			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr2:21252782A>G	ENST00000233242.1	-	11	1585	c.1458T>C	c.(1456-1458)taT>taC	p.Y486Y	APOB_ENST00000399256.4_Silent_p.Y486Y	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	486	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCAGAATCAAATAGGTGTAAT	0.443																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(1456-1458)taT>taC		apolipoprotein B	Atorvastatin(DB01076)						178.0	179.0	179.0					2																	21252782		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21252782A>G	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.1458T>C	2.37:g.21252782A>G						APOB_ENST00000399256.4_Silent_p.Y486Y	p.Y486Y	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			11	1585	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		486			Vitellogenin.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.1458T>C	CCDS1703.1																																																																																				0.443	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			60	116	0	0	0	1	0	60	116				
PLXNC1	10154	broad.mit.edu	37	12	94654553	94654553	+	Silent	SNP	G	G	A			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr12:94654553G>A	ENST00000258526.4	+	20	3636	c.3387G>A	c.(3385-3387)acG>acA	p.T1129T	PLXNC1_ENST00000551495.1_3'UTR|PLXNC1_ENST00000547057.1_Silent_p.T176T|PLXNC1_ENST00000545312.1_5'Flank	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1129					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TGAGACGCACGGAGTCCGTCG	0.512																																						ENST00000258526.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3385-3387)acG>acA		plexin C1							114.0	113.0	113.0					12																	94654553		2203	4300	6503	SO:0001819	synonymous_variant	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94654553G>A	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.3387G>A	12.37:g.94654553G>A						PLXNC1_ENST00000551495.1_3'UTR|PLXNC1_ENST00000547057.1_Silent_p.T176T	p.T1129T	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN			20	3636	+			1129					Q59H25	Silent	SNP	ENST00000258526.4	37	c.3387G>A	CCDS9049.1																																																																																				0.512	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			15	42	0	0	0	1	0	15	42				
POM121L12	285877	broad.mit.edu	37	7	53103955	53103955	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr7:53103955G>A	ENST00000408890.4	+	1	607	c.591G>A	c.(589-591)tgG>tgA	p.W197*		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	197										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GGCCGTTGTGGTTCGAGGTCT	0.672																																						ENST00000408890.4																			0				endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(589-591)tgG>tgA		POM121 transmembrane nucleoporin-like 12							50.0	58.0	55.0					7																	53103955		1981	4146	6127	SO:0001587	stop_gained	285877							g.chr7:53103955G>A		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.591G>A	7.37:g.53103955G>A	ENSP00000386133:p.Trp197*						p.W197*	NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN			1	607	+			197					Q8NDI9	Nonsense_Mutation	SNP	ENST00000408890.4	37	c.591G>A	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.649296	0.47362	.	.	ENSG00000221900	ENST00000408890	.	.	.	2.21	2.21	0.28008	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999995	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	8.0049	0.30319	0.0:0.0:1.0:0.0	.	.	.	.	X	197	.	ENSP00000386133:W197X	W	+	3	0	POM121L12	53071449	0.251000	0.23961	0.384000	0.26145	0.010000	0.07245	2.321000	0.43805	1.561000	0.49584	0.561000	0.74099	TGG		0.672	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		379	51	0	0	0	1	0	379	51				
MUC5B	727897	broad.mit.edu	37	11	1264578	1264578	+	Silent	SNP	T	T	A			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr11:1264578T>A	ENST00000529681.1	+	31	6526	c.6468T>A	c.(6466-6468)acT>acA	p.T2156T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.T2159T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2156	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ctgggacaactcccatccccc	0.647																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(6475-6477)acT>acA		mucin 5B, oligomeric mucus/gel-forming							113.0	144.0	134.0					11																	1264578		2090	4144	6234	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1264578T>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.6468T>A	11.37:g.1264578T>A						MUC5B_ENST00000529681.1_Silent_p.T2156T|RP11-532E4.2_ENST00000532061.2_RNA	p.T2159T			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	6535	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2156			11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.6477T>A	CCDS44515.2																																																																																				0.647	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		3	12	0	0	0	1	0	3	12				
CCDC7	79741	broad.mit.edu	37	10	33015677	33015677	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr10:33015677C>A	ENST00000375030.2	+	11	1148	c.530C>A	c.(529-531)tCt>tAt	p.S177Y	C10orf68_ENST00000375025.4_Missense_Mutation_p.S169Y|C10orf68_ENST00000375028.3_Missense_Mutation_p.S145Y			Q9H943	CJ068_HUMAN		169										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						GATAAAAATTCTATGTTTGTT	0.294																																						ENST00000375030.2																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						c.(529-531)tCt>tAt		chromosome 10 open reading frame 68							50.0	54.0	53.0					10																	33015677		2202	4286	6488	SO:0001583	missense	79741							g.chr10:33015677C>A																												ENST00000375030.2:c.530C>A	10.37:g.33015677C>A	ENSP00000364170:p.Ser177Tyr					C10orf68_ENST00000375025.4_Missense_Mutation_p.S169Y|C10orf68_ENST00000375028.3_Missense_Mutation_p.S145Y	p.S177Y			Q9H943	CJ068_HUMAN			11	1148	+			169					B0QZ71|Q08AN7|Q8N7T7	Missense_Mutation	SNP	ENST00000375030.2	37	c.530C>A		.	.	.	.	.	.	.	.	.	.	.	5.080	0.200463	0.09652	.	.	ENSG00000150076	ENST00000302316;ENST00000375030;ENST00000375028;ENST00000375025;ENST00000375037	T;T;T;T	0.32023	1.51;1.47;1.5;1.49	2.45	-0.0401	0.13873	.	.	.	.	.	T	0.26195	0.0639	L	0.44542	1.39	0.09310	N	1	D;D;D;D	0.59767	0.986;0.96;0.96;0.96	P;P;P;P	0.47015	0.534;0.534;0.534;0.534	T	0.13469	-1.0508	9	0.49607	T	0.09	.	4.5646	0.12177	0.0:0.3543:0.0:0.6457	.	101;169;145;177	B4DX58;Q9H943;A2A3B4;A2A3D6	.;CJ068_HUMAN;.;.	Y	169;177;145;169;117	ENSP00000303710:S169Y;ENSP00000364170:S177Y;ENSP00000364168:S145Y;ENSP00000364165:S169Y	ENSP00000303710:S169Y	S	+	2	0	C10orf68	33055683	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.082000	0.14847	-0.028000	0.13850	-0.391000	0.06502	TCT		0.294	C10orf68-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000313999.2			8	30	1	0	5.68852e-11	1	6.27296e-11	8	30				
SEMA4G	57715	broad.mit.edu	37	10	102732925	102732925	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr10:102732925A>T	ENST00000370250.4	+	2	537	c.164A>T	c.(163-165)aAc>aTc	p.N55I	SEMA4G_ENST00000517724.1_Missense_Mutation_p.N55I|SEMA4G_ENST00000210633.3_Missense_Mutation_p.N55I|MIR608_ENST00000384820.1_RNA|SEMA4G_ENST00000519756.1_3'UTR	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	55	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		CAAGCCCAGAACTACTCAACA	0.637																																						ENST00000210633.3																			0				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(163-165)aAc>aTc		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G							42.0	43.0	43.0					10																	102732925		2203	4300	6503	SO:0001583	missense	57715				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr10:102732925A>T	AB046839	CCDS7501.1, CCDS55724.1	10q24.31	2013-01-11			ENSG00000095539	ENSG00000095539		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10735	protein-coding gene	gene with protein product							Standard	NM_017893		Approved	FLJ20590, KIAA1619	uc001krw.2	Q9NTN9	OTTHUMG00000018922	ENST00000370250.4:c.164A>T	10.37:g.102732925A>T	ENSP00000359270:p.Asn55Ile					SEMA4G_ENST00000519756.1_3'UTR|SEMA4G_ENST00000517724.1_Missense_Mutation_p.N55I|SEMA4G_ENST00000370250.4_Missense_Mutation_p.N55I	p.N55I			Q9NTN9	SEM4G_HUMAN		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)	2	242	+		Colorectal(252;0.234)	55			Sema.		A1A5C6|A6NJY8|Q58EY1|Q9HCF3	Missense_Mutation	SNP	ENST00000370250.4	37	c.164A>T		.	.	.	.	.	.	.	.	.	.	A	19.71	3.877753	0.72294	.	.	ENSG00000095539	ENST00000519649;ENST00000518124;ENST00000457585;ENST00000370250;ENST00000517724;ENST00000210633	T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47	5.12	5.12	0.69794	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.000000	0.85682	D	0.000000	T	0.55194	0.1905	M	0.82630	2.6	0.53005	D	0.999969	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.99;0.99;0.996	T	0.60702	-0.7211	10	0.87932	D	0	.	8.4695	0.32977	0.9112:0.0:0.0888:0.0	.	55;55;55	Q9NTN9;A1A5C6;Q9NTN9-2	SEM4G_HUMAN;.;.	I	55	ENSP00000428896:N55I;ENSP00000430103:N55I;ENSP00000359270:N55I;ENSP00000430175:N55I;ENSP00000210633:N55I	ENSP00000210633:N55I	N	+	2	0	SEMA4G	102722915	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	5.489000	0.66875	1.906000	0.55180	0.477000	0.44152	AAC		0.637	SEMA4G-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049920.2			11	33	0	0	0	1	0	11	33				
EDN1	1906	broad.mit.edu	37	6	12296207	12296207	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr6:12296207G>A	ENST00000379375.5	+	5	813	c.546G>A	c.(544-546)atG>atA	p.M182I		NM_001168319.1|NM_001955.4	NP_001161791.1|NP_001946.3	P05305	EDN1_HUMAN	endothelin 1	182					artery smooth muscle contraction (GO:0014824)|body fluid secretion (GO:0007589)|calcium-mediated signaling (GO:0019722)|cartilage development (GO:0051216)|cell growth (GO:0016049)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|dorsal/ventral pattern formation (GO:0009953)|epithelial fluid transport (GO:0042045)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose transport (GO:0015758)|heart development (GO:0007507)|histamine secretion (GO:0001821)|in utero embryonic development (GO:0001701)|inositol phosphate-mediated signaling (GO:0048016)|leukocyte activation (GO:0045321)|maternal process involved in parturition (GO:0060137)|membrane depolarization (GO:0051899)|middle ear morphogenesis (GO:0042474)|multicellular organismal aging (GO:0010259)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of hormone secretion (GO:0046888)|negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|nitric oxide transport (GO:0030185)|patterning of blood vessels (GO:0001569)|peptide hormone secretion (GO:0030072)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase D-activating G-protein coupled receptor signaling pathway (GO:0031583)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell size (GO:0045793)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of heart rate (GO:0010460)|positive regulation of hormone secretion (GO:0046887)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of odontogenesis (GO:0042482)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of urine volume (GO:0035810)|prostaglandin biosynthetic process (GO:0001516)|protein kinase C deactivation (GO:0042313)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|respiratory gaseous exchange (GO:0007585)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to testosterone (GO:0033574)|rhythmic excitation (GO:0043179)|sensory perception of pain (GO:0019233)|superoxide anion generation (GO:0042554)|vasoconstriction (GO:0042310)|vein smooth muscle contraction (GO:0014826)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|endothelin A receptor binding (GO:0031707)|endothelin B receptor binding (GO:0031708)|hormone activity (GO:0005179)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)				CGGAGACCATGAGAAACAGCG	0.403																																						ENST00000379375.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13						c.(544-546)atG>atA		endothelin 1							153.0	149.0	151.0					6																	12296207		2203	4300	6503	SO:0001583	missense	1906				artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of JUN kinase activity|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	cytoplasm|extracellular space	cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity	g.chr6:12296207G>A	S56805	CCDS4522.1	6p24.1	2014-03-19			ENSG00000078401	ENSG00000078401		"""Endogenous ligands"""	3176	protein-coding gene	gene with protein product		131240					Standard	NM_001168319		Approved	ET1	uc003nae.4	P05305	OTTHUMG00000014266	ENST00000379375.5:c.546G>A	6.37:g.12296207G>A	ENSP00000368683:p.Met182Ile						p.M182I	NM_001168319.1|NM_001955.4	NP_001161791.1|NP_001946.3	P05305	EDN1_HUMAN			5	813	+	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)	182					Q96DA1	Missense_Mutation	SNP	ENST00000379375.5	37	c.546G>A	CCDS4522.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.476153	0.00165	.	.	ENSG00000078401	ENST00000379375	T	0.80480	-1.38	6.08	3.35	0.38373	.	0.574123	0.19723	N	0.107540	T	0.11110	0.0271	N	0.00035	-2.545	0.24901	N	0.992104	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.47275	-0.9130	10	0.02654	T	1	-12.5989	5.8492	0.18683	0.1285:0.5445:0.2545:0.0725	.	182;182	Q6FH53;P05305	.;EDN1_HUMAN	I	182	ENSP00000368683:M182I	ENSP00000368683:M182I	M	+	3	0	EDN1	12404193	0.999000	0.42202	0.998000	0.56505	0.007000	0.05969	0.400000	0.20932	0.461000	0.27071	-2.023000	0.00429	ATG		0.403	EDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039872.1	NM_001955		125	112	0	0	0	1	0	125	112				
GOLGA6L17P	642402	broad.mit.edu	37	15	85053124	85053124	+	RNA	SNP	G	G	T	rs192508624	byFrequency	TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr15:85053124G>T	ENST00000414190.2	-	0	328					NR_003246.2																						TAAATGTTTTGTTTTTTTTTT	0.353																																						ENST00000414190.2																			0																																																			642402							g.chr15:85053124G>T																													15.37:g.85053124G>T								NR_003246.2						0	328	-									RNA	SNP	ENST00000414190.2	37																																																																																						0.353	GOLGA6L5-003	KNOWN	mRNA_end_NF|basic	processed_transcript	pseudogene	OTTHUMT00000418579.1			8	32	1	0	0.000442599	1	0.000451003	8	32				
HSPH1	10808	broad.mit.edu	37	13	31713028	31713028	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr13:31713028T>A	ENST00000320027.5	-	16	2442	c.2098A>T	c.(2098-2100)Act>Tct	p.T700S	HSPH1_ENST00000445273.2_Missense_Mutation_p.T702S|HSPH1_ENST00000429785.2_Missense_Mutation_p.T519S|HSPH1_ENST00000380406.5_Missense_Mutation_p.T659S|HSPH1_ENST00000380405.4_Missense_Mutation_p.T656S	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	700					chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		TTAACTGGAGTGCCAATTTTC	0.338																																						ENST00000320027.5																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27						c.(2098-2100)Act>Tct		heat shock 105kDa/110kDa protein 1							52.0	52.0	52.0					13																	31713028		2203	4299	6502	SO:0001583	missense	10808				positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding	g.chr13:31713028T>A	AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"""Heat shock proteins / HSP70"""	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000320027.5:c.2098A>T	13.37:g.31713028T>A	ENSP00000318687:p.Thr700Ser					HSPH1_ENST00000380406.5_Missense_Mutation_p.T659S|HSPH1_ENST00000429785.2_Missense_Mutation_p.T519S|HSPH1_ENST00000380405.4_Missense_Mutation_p.T656S|HSPH1_ENST00000445273.2_Missense_Mutation_p.T702S	p.T700S	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)	16	2442	-		Lung SC(185;0.0257)	700					B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Missense_Mutation	SNP	ENST00000320027.5	37	c.2098A>T	CCDS9340.1	.	.	.	.	.	.	.	.	.	.	T	14.67	2.604324	0.46423	.	.	ENSG00000120694	ENST00000320027;ENST00000380405;ENST00000380406;ENST00000445273;ENST00000429785	T;T;T;T;T	0.12984	2.63;2.63;2.63;2.63;2.63	5.77	4.56	0.56223	.	0.271723	0.37304	N	0.002145	T	0.08802	0.0218	N	0.13352	0.335	0.42372	D	0.992458	B;B;B;B;B	0.20368	0.044;0.007;0.044;0.032;0.018	B;B;B;B;B	0.25987	0.065;0.023;0.065;0.038;0.04	T	0.22626	-1.0211	10	0.16896	T	0.51	-21.4772	12.0767	0.53647	0.1291:0.0:0.0:0.8709	.	519;659;702;656;700	B4DY72;Q92598-3;B4DYH1;Q92598-2;Q92598	.;.;.;.;HS105_HUMAN	S	700;656;659;702;519	ENSP00000318687:T700S;ENSP00000369768:T656S;ENSP00000369769:T659S;ENSP00000396090:T702S;ENSP00000388778:T519S	ENSP00000318687:T700S	T	-	1	0	HSPH1	30611028	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.187000	0.50950	0.972000	0.38314	0.533000	0.62120	ACT		0.338	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044384.1			54	43	0	0	0	1	0	54	43				
FXYD5	53827	broad.mit.edu	37	19	35655077	35655077	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr19:35655077C>T	ENST00000342879.3	+	5	1089	c.311C>T	c.(310-312)aCc>aTc	p.T104I	FXYD5_ENST00000541435.2_Missense_Mutation_p.T104I|FXYD5_ENST00000392219.2_Missense_Mutation_p.T104I|FXYD5_ENST00000590686.1_Missense_Mutation_p.T104I|FXYD5_ENST00000423817.3_Missense_Mutation_p.T104I|FXYD5_ENST00000392217.3_Missense_Mutation_p.T33I|FXYD5_ENST00000543307.1_Missense_Mutation_p.T104I|FXYD5_ENST00000588699.1_Missense_Mutation_p.T104I|FXYD5_ENST00000591716.2_3'UTR			Q96DB9	FXYD5_HUMAN	FXYD domain containing ion transport regulator 5	104					microvillus assembly (GO:0030033)|negative regulation of calcium-dependent cell-cell adhesion (GO:0046588)	integral component of membrane (GO:0016021)	actin binding (GO:0003779)|cadherin binding (GO:0045296)|ion channel activity (GO:0005216)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221)			ACTGATGACACCACGACGCTC	0.557																																						ENST00000342879.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						c.(310-312)aCc>aTc		FXYD domain containing ion transport regulator 5							156.0	129.0	138.0					19																	35655077		2203	4300	6503	SO:0001583	missense	53827				microvillus assembly|negative regulation of calcium-dependent cell-cell adhesion	integral to membrane	actin binding|cadherin binding|ion channel activity	g.chr19:35655077C>T	AF161462	CCDS12447.1	19q13.12	2008-02-05	2002-01-14		ENSG00000089327	ENSG00000089327			4029	protein-coding gene	gene with protein product	"""dysadherin"""	606669	"""FXYD domain-containing ion transport regulator 5"""				Standard	NM_144779		Approved	OIT2	uc002nyg.2	Q96DB9	OTTHUMG00000048092	ENST00000342879.3:c.311C>T	19.37:g.35655077C>T	ENSP00000344254:p.Thr104Ile					FXYD5_ENST00000423817.3_Missense_Mutation_p.T104I|FXYD5_ENST00000392219.2_Missense_Mutation_p.T104I|FXYD5_ENST00000543307.1_Missense_Mutation_p.T104I|FXYD5_ENST00000541435.2_Missense_Mutation_p.T104I|FXYD5_ENST00000590686.1_Missense_Mutation_p.T104I|FXYD5_ENST00000591716.2_3'UTR|FXYD5_ENST00000392217.3_Missense_Mutation_p.T33I|FXYD5_ENST00000588699.1_Missense_Mutation_p.T104I	p.T104I			Q96DB9	FXYD5_HUMAN	Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221)		5	1089	+	all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162)		104					B7WNZ8|Q6UW44|Q9HC34|Q9P039	Missense_Mutation	SNP	ENST00000342879.3	37	c.311C>T	CCDS12447.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.883050	0.51908	.	.	ENSG00000089327	ENST00000543307;ENST00000392219;ENST00000541435;ENST00000342879;ENST00000423817;ENST00000392217	T;T;T;T;T;T	0.67523	-0.27;0.79;0.79;0.79;0.79;0.09	3.64	3.64	0.41730	.	0.546583	0.16993	N	0.191211	T	0.68851	0.3046	L	0.27053	0.805	0.20403	N	0.999908	D;D;D	0.76494	0.999;0.996;0.999	D;P;D	0.69479	0.964;0.907;0.923	T	0.58418	-0.7640	10	0.56958	D	0.05	-0.2482	11.1064	0.48205	0.0:1.0:0.0:0.0	.	104;33;104	F5H4X8;Q96DB9-2;Q96DB9	.;.;FXYD5_HUMAN	I	104;104;104;104;104;33	ENSP00000444839:T104I;ENSP00000376053:T104I;ENSP00000443390:T104I;ENSP00000344254:T104I;ENSP00000393848:T104I;ENSP00000376051:T33I	ENSP00000344254:T104I	T	+	2	0	FXYD5	40346917	0.118000	0.22208	0.489000	0.27452	0.003000	0.03518	2.730000	0.47335	2.353000	0.79882	0.491000	0.48974	ACC		0.557	FXYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109443.1	NM_014164		13	41	0	0	0	1	0	13	41				
OCA2	4948	broad.mit.edu	37	15	28326985	28326985	+	Silent	SNP	G	G	A	rs566842751	byFrequency	TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr15:28326985G>A	ENST00000354638.3	-	2	191	c.36C>T	c.(34-36)ccC>ccT	p.P12P	OCA2_ENST00000382996.2_Silent_p.P12P|OCA2_ENST00000353809.5_Silent_p.P12P	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	12					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CCGGCGCGCCGGGGTACCGCC	0.652									Oculocutaneous Albinism				G|||	3	0.000599042	0.0	0.0014	5008	,	,		13967	0.001		0.001	False		,,,				2504	0.0					ENST00000354638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(34-36)ccC>ccT		oculocutaneous albinism II							9.0	11.0	10.0					15																	28326985		2023	4091	6114	SO:0001819	synonymous_variant	4948	Oculocutaneous Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28326985G>A		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.36C>T	15.37:g.28326985G>A						OCA2_ENST00000382996.2_Silent_p.P12P|OCA2_ENST00000353809.5_Silent_p.P12P	p.P12P	NM_000275.2	NP_000266.2	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	2	191	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	12					Q15211|Q15212|Q96EN1|Q9UMI5	Silent	SNP	ENST00000354638.3	37	c.36C>T	CCDS10020.1																																																																																				0.652	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		4	32	0	0	0	1	0	4	32				
AFF2	2334	broad.mit.edu	37	X	148039927	148039927	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chrX:148039927A>G	ENST00000370460.2	+	12	3108	c.2629A>G	c.(2629-2631)Atc>Gtc	p.I877V	AFF2_ENST00000370457.5_Missense_Mutation_p.I844V|AFF2_ENST00000342251.3_Missense_Mutation_p.I844V|AFF2_ENST00000286437.5_Missense_Mutation_p.I518V	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	877					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GGCCACAACTATCTGCTTGCT	0.512																																						ENST00000370460.2																			0				breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(2629-2631)Atc>Gtc		AF4/FMR2 family, member 2							214.0	192.0	199.0					X																	148039927		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148039927A>G	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.2629A>G	X.37:g.148039927A>G	ENSP00000359489:p.Ile877Val					AFF2_ENST00000286437.5_Missense_Mutation_p.I518V|AFF2_ENST00000342251.3_Missense_Mutation_p.I844V|AFF2_ENST00000370457.5_Missense_Mutation_p.I844V	p.I877V	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN			12	3108	+	Acute lymphoblastic leukemia(192;6.56e-05)		877					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.2629A>G	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	A	3.752	-0.051410	0.07407	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	5.81	-1.73	0.08081	.	0.443404	0.23736	N	0.045073	T	0.33411	0.0862	N	0.16478	0.41	0.09310	N	0.999999	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.09377	0.004;0.0;0.0;0.0;0.003;0.004	T	0.05321	-1.0892	10	0.31617	T	0.26	.	0.9209	0.01315	0.2619:0.3456:0.1868:0.2057	.	518;842;844;838;867;877	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	V	877;844;844;518	ENSP00000359489:I877V;ENSP00000359486:I844V;ENSP00000345459:I844V;ENSP00000286437:I518V	ENSP00000286437:I518V	I	+	1	0	AFF2	147847627	0.012000	0.17670	0.065000	0.19835	0.801000	0.45260	0.097000	0.15168	-0.246000	0.09611	0.486000	0.48141	ATC		0.512	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		148	33	0	0	0	1	0	148	33				
TRPC4AP	26133	broad.mit.edu	37	20	33680571	33680571	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr20:33680571G>A	ENST00000252015.2	-	1	103	c.14C>T	c.(13-15)cCg>cTg	p.P5L	TRPC4AP_ENST00000432634.2_Missense_Mutation_p.P5L|TRPC4AP_ENST00000451813.2_Missense_Mutation_p.P5L			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	5	Interaction with TNFRSF1A. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)	p.P5L(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			AGCCGCTACCGGCGCCGCCGC	0.741																																						ENST00000252015.2																			1	Substitution - Missense(1)	p.P5L(1)	haematopoietic_and_lymphoid_tissue(1)	breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32						c.(13-15)cCg>cTg		transient receptor potential cation channel, subfamily C, member 4 associated protein							4.0	6.0	5.0					20																	33680571		1149	2735	3884	SO:0001583	missense	26133				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding	g.chr20:33680571G>A	AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 158"""	608430	"""chromosome 20 open reading frame 188"""	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319	ENST00000252015.2:c.14C>T	20.37:g.33680571G>A	ENSP00000252015:p.Pro5Leu					TRPC4AP_ENST00000432634.2_Missense_Mutation_p.P5L|TRPC4AP_ENST00000451813.1_Missense_Mutation_p.P5L	p.P5L			Q8TEL6	TP4AP_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00936)		1	103	-			5			Interaction with TNFRSF1A (By similarity).		E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Missense_Mutation	SNP	ENST00000252015.2	37	c.14C>T	CCDS13246.1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.309780	0.40895	.	.	ENSG00000100991	ENST00000252015;ENST00000451813;ENST00000432634;ENST00000541994	.	.	.	4.11	3.13	0.36017	.	0.472364	0.22735	N	0.056280	T	0.41581	0.1165	N	0.19112	0.55	0.80722	D	1	B;B;B	0.15930	0.015;0.015;0.015	B;B;B	0.15052	0.012;0.012;0.012	T	0.40627	-0.9553	9	0.87932	D	0	.	11.0681	0.47987	0.0:0.0:0.8136:0.1864	.	5;5;5	B4E0Q1;E1P5Q0;Q8TEL6	.;.;TP4AP_HUMAN	L	5	.	ENSP00000252015:P5L	P	-	2	0	TRPC4AP	33144232	1.000000	0.71417	0.998000	0.56505	0.271000	0.26615	2.996000	0.49449	1.260000	0.44134	0.650000	0.86243	CCG		0.741	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2	NM_015638		9	12	0	0	0	1	0	9	12				
CATSPERD	257062	broad.mit.edu	37	19	5772958	5772958	+	Silent	SNP	C	C	T			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr19:5772958C>T	ENST00000381624.3	+	20	1984	c.1923C>T	c.(1921-1923)ccC>ccT	p.P641P	CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	641					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											TCGGGGGGCCCTTCTTCTGGA	0.587																																						ENST00000381624.3																			0											c.(1921-1923)ccC>ccT		catsper channel auxiliary subunit delta							45.0	49.0	47.0					19																	5772958		1905	4111	6016	SO:0001819	synonymous_variant	257062					integral to membrane		g.chr19:5772958C>T	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.1923C>T	19.37:g.5772958C>T						CATSPERD_ENST00000309164.7_3'UTR	p.P641P	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN			20	1984	+			641					Q6ZRP1	Silent	SNP	ENST00000381624.3	37	c.1923C>T	CCDS12149.2																																																																																				0.587	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		11	25	0	0	0	1	0	11	25				
LCP2	3937	broad.mit.edu	37	5	169689739	169689739	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr5:169689739C>A	ENST00000046794.5	-	13	1441	c.826G>T	c.(826-828)Ggg>Tgg	p.G276W	LCP2_ENST00000521416.1_Missense_Mutation_p.G71W	NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	276					blood coagulation (GO:0007596)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|innate immune response (GO:0045087)|mast cell activation (GO:0045576)|platelet activation (GO:0030168)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)				cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		AAATGCTCCCCGAGTGACCTG	0.507																																						ENST00000046794.5																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(826-828)Ggg>Tgg		lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)							85.0	84.0	84.0					5																	169689739		1936	4148	6084	SO:0001583	missense	3937				immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding	g.chr5:169689739C>A		CCDS47339.1	5q35.1	2013-02-14	2002-08-29		ENSG00000043462	ENSG00000043462		"""SH2 domain containing"""	6529	protein-coding gene	gene with protein product	"""76 kDa tyrosine phosphoprotein"", ""SH2 domain-containing leukocyte protein of 76kD"""	601603	"""lymphocyte cytosolic protein 2 (SH2 domain-containing leukocyte protein of 76kD)"""	SLP76		7706237	Standard	NM_005565		Approved	SLP-76	uc003man.1	Q13094	OTTHUMG00000163121	ENST00000046794.5:c.826G>T	5.37:g.169689739C>A	ENSP00000046794:p.Gly276Trp					LCP2_ENST00000521416.1_Missense_Mutation_p.G71W	p.G276W	NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)	13	1441	-	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	276					A8KA25|Q53XV4	Missense_Mutation	SNP	ENST00000046794.5	37	c.826G>T	CCDS47339.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.910811	0.33721	.	.	ENSG00000043462	ENST00000046794;ENST00000521416;ENST00000520344	T;T	0.50277	0.79;0.75	5.65	3.85	0.44370	.	0.413962	0.27270	N	0.020123	T	0.60261	0.2255	L	0.56769	1.78	0.32959	D	0.52082	D;D;D	0.89917	1.0;0.99;0.999	D;P;D	0.85130	0.997;0.817;0.974	T	0.67166	-0.5739	9	.	.	.	-12.4866	8.2571	0.31763	0.0:0.827:0.0:0.173	.	71;276;276	E7ESF6;A8KA25;Q13094	.;.;LCP2_HUMAN	W	276;71;43	ENSP00000046794:G276W;ENSP00000428871:G71W	.	G	-	1	0	LCP2	169622317	0.983000	0.35010	0.343000	0.25615	0.097000	0.18754	4.122000	0.57910	0.724000	0.32296	0.655000	0.94253	GGG		0.507	LCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371727.1	NM_005565		22	27	1	0	7.45023e-12	1	8.32977e-12	22	27				
SPINT4	391253	broad.mit.edu	37	20	44352533	44352533	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr20:44352533G>A	ENST00000279058.3	+	2	147	c.130G>A	c.(130-132)Gac>Aac	p.D44N		NM_178455.1	NP_848550.1	Q6UDR6	SPIT4_HUMAN	serine peptidase inhibitor, Kunitz type 4	44	BPTI/Kunitz inhibitor. {ECO:0000255|PROSITE-ProRule:PRU00031}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			lung(6)|ovary(1)|skin(1)	8		Myeloproliferative disorder(115;0.028)				CTGCAAATTGGACATGAATTT	0.408																																						ENST00000279058.3																			0				lung(6)|ovary(1)|skin(1)	8						c.(130-132)Gac>Aac		serine peptidase inhibitor, Kunitz type 4							83.0	88.0	87.0					20																	44352533		2203	4300	6503	SO:0001583	missense	391253					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:44352533G>A	AY372174	CCDS33477.1	20q13.12	2012-08-20	2005-10-18	2005-10-25	ENSG00000149651	ENSG00000149651			16130	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 137"", ""serine peptidase inhibitor, Kunitz type 4"""	C20orf137		21988899	Standard	NM_178455		Approved	dJ601O1.1	uc002xpe.1	Q6UDR6	OTTHUMG00000130153	ENST00000279058.3:c.130G>A	20.37:g.44352533G>A	ENSP00000279058:p.Asp44Asn						p.D44N	NM_178455.1	NP_848550.1	Q6UDR6	SPIT4_HUMAN			2	147	+		Myeloproliferative disorder(115;0.028)	44			BPTI/Kunitz inhibitor.		Q9BQN3	Missense_Mutation	SNP	ENST00000279058.3	37	c.130G>A	CCDS33477.1	.	.	.	.	.	.	.	.	.	.	G	9.921	1.212115	0.22289	.	.	ENSG00000149651	ENST00000279058	T	0.57595	0.39	3.94	2.97	0.34412	Proteinase inhibitor I2, Kunitz metazoa (6);	0.786767	0.11241	N	0.584624	T	0.43411	0.1246	.	.	.	0.09310	N	1	B	0.23128	0.08	B	0.25506	0.061	T	0.39663	-0.9603	9	0.54805	T	0.06	-6.0628	9.6499	0.39890	0.0:0.2122:0.7878:0.0	.	44	Q6UDR6	SPIT4_HUMAN	N	44	ENSP00000279058:D44N	ENSP00000279058:D44N	D	+	1	0	SPINT4	43785947	0.983000	0.35010	0.074000	0.20217	0.003000	0.03518	2.209000	0.42806	1.218000	0.43458	0.650000	0.86243	GAC		0.408	SPINT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252463.2	XM_372869		24	134	0	0	0	1	0	24	134				
SH3PXD2A	9644	broad.mit.edu	37	10	105362799	105362799	+	Missense_Mutation	SNP	C	C	T	rs371681573		TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr10:105362799C>T	ENST00000369774.4	-	15	2452	c.2176G>A	c.(2176-2178)Gca>Aca	p.A726T	SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.A698T|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.A561T|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.A593T			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	726					superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CGGATGCCTGCGTCCGAAGCA	0.617																																						ENST00000369774.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38						c.(2176-2178)Gca>Aca		SH3 and PX domains 2A		C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	73.0	76.0	75.0		2092	5.2	1.0	10		75	0,8600		0,0,4300	no	missense	SH3PXD2A	NM_014631.2	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	698/1106	105362799	1,13005	2203	4300	6503	SO:0001583	missense	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105362799C>T	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.2176G>A	10.37:g.105362799C>T	ENSP00000358789:p.Ala726Thr					SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.A593T|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.A561T|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.A698T|SH3PXD2A_ENST00000427662.2_Intron	p.A726T			Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	15	2452	-		Colorectal(252;0.0815)|Breast(234;0.131)	726					D3DR98|O43302|Q5TCZ2|Q5TDQ8	Missense_Mutation	SNP	ENST00000369774.4	37	c.2176G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.22|17.22	3.335120|3.335120	0.60853|0.60853	2.27E-4|2.27E-4	0.0|0.0	ENSG00000107957|ENSG00000107957	ENST00000369774;ENST00000355946;ENST00000315994;ENST00000536035;ENST00000540321;ENST00000538130|ENST00000420222	T;T;T;T|.	0.57273|.	0.48;0.47;0.62;0.41|.	5.17|5.17	5.17|5.17	0.71159|0.71159	.|.	0.235442|.	0.45126|.	D|.	0.000387|.	T|T	0.61899|0.61899	0.2384|0.2384	L|L	0.40543|0.40543	1.245|1.245	0.35363|0.35363	D|D	0.788381|0.788381	D;D;D;D|.	0.57899|.	0.957;0.957;0.981;0.975|.	B;B;B;P|.	0.44623|.	0.267;0.267;0.431;0.455|.	T|T	0.66296|0.66296	-0.5959|-0.5959	10|5	0.22706|.	T|.	0.39|.	-11.5607|-11.5607	18.6519|18.6519	0.91433|0.91433	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	726;575;571;698|.	Q5TCZ1;B7Z9L8;B7Z3B0;Q5TCZ1-3|.	SPD2A_HUMAN;.;.;.|.	T|H	726;698;533;641;593;561|652	ENSP00000358789:A726T;ENSP00000348215:A698T;ENSP00000443663:A593T;ENSP00000441514:A561T|.	ENSP00000318135:A533T|.	A|R	-|-	1|2	0|0	SH3PXD2A|SH3PXD2A	105352789|105352789	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.943000|0.943000	0.58893|0.58893	5.651000|5.651000	0.67951|0.67951	2.415000|2.415000	0.81967|0.81967	0.561000|0.561000	0.74099|0.74099	GCA|CGC		0.617	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		21	92	0	0	0	1	0	21	92				
HOXA13	3209	broad.mit.edu	37	7	27237893	27237893	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr7:27237893C>A	ENST00000222753.4	-	2	1119	c.1091G>T	c.(1090-1092)cGg>cTg	p.R364L	HOTTIP_ENST00000472494.1_RNA|HOTTIP_ENST00000605136.1_RNA|HOXA13_ENST00000518136.3_5'Flank|HOTTIP_ENST00000521028.2_RNA|HOTTIP_ENST00000421733.1_RNA	NM_000522.4	NP_000513.2	P31271	HXA13_HUMAN	homeobox A13	364					artery morphogenesis (GO:0048844)|branching involved in prostate gland morphogenesis (GO:0060442)|embryonic forelimb morphogenesis (GO:0035115)|endothelial cell fate specification (GO:0060847)|endothelial cell morphogenesis (GO:0001886)|inner ear development (GO:0048839)|male genitalia development (GO:0030539)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of BMP signaling pathway (GO:0030510)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|ventricular septum development (GO:0003281)	intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	6						TGTGACCTGCCGCTCAGAGAG	0.413			T	NUP98	AML																																	ENST00000222753.4				Dom	yes		7	7p15-p14.2	3209	T	homeo box A13			L	NUP98		AML		0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	6						c.(1090-1092)cGg>cTg		homeobox A13							194.0	204.0	200.0					7																	27237893		2203	4300	6503	SO:0001583	missense	3209				skeletal system development	nucleus	sequence-specific DNA binding	g.chr7:27237893C>A		CCDS5412.1	7p15.2	2011-06-20	2005-12-22		ENSG00000106031	ENSG00000106031		"""Homeoboxes / ANTP class : HOXL subclass"""	5102	protein-coding gene	gene with protein product		142959	"""homeo box A13"""	HOX1J, HOX1		1973146, 1358459	Standard	NM_000522		Approved		uc003szb.1	P31271	OTTHUMG00000023438	ENST00000222753.4:c.1091G>T	7.37:g.27237893C>A	ENSP00000222753:p.Arg364Leu						p.R364L	NM_000522.4	NP_000513.2	P31271	HXA13_HUMAN			2	1119	-			364					A4D188|O43371	Missense_Mutation	SNP	ENST00000222753.4	37	c.1091G>T	CCDS5412.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.579897	0.86645	.	.	ENSG00000106031	ENST00000222753	D	0.96745	-4.11	5.57	5.57	0.84162	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98391	0.9465	M	0.87328	2.875	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99243	1.0885	10	0.87932	D	0	.	19.1476	0.93475	0.0:1.0:0.0:0.0	.	364	P31271	HXA13_HUMAN	L	364	ENSP00000222753:R364L	ENSP00000222753:R364L	R	-	2	0	HOXA13	27204418	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.609000	0.88269	0.563000	0.77884	CGG		0.413	HOXA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358752.3			76	291	1	0	1.1397e-45	1	1.36934e-45	76	291				
DBF4B	80174	broad.mit.edu	37	17	42786728	42786728	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr17:42786728G>A	ENST00000315005.3	+	2	214	c.76G>A	c.(76-78)Gac>Aac	p.D26N	DBF4B_ENST00000398338.3_Missense_Mutation_p.D26N|DBF4B_ENST00000526915.1_Intron|DBF4B_ENST00000393547.2_Missense_Mutation_p.D26N	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 zinc finger B	26					cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of protein kinase activity (GO:0045860)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				CCGGGCCCCGGACCTAGGTGG	0.537																																						ENST00000315005.3																			0				kidney(1)|large_intestine(1)|lung(5)	7						c.(76-78)Gac>Aac		DBF4 homolog B (S. cerevisiae)							196.0	204.0	201.0					17																	42786728		2203	4300	6503	SO:0001583	missense	80174				cell cycle	nucleus	nucleic acid binding|zinc ion binding	g.chr17:42786728G>A	AF465820	CCDS11485.1, CCDS45706.1, CCDS45706.2	17q21.31	2014-02-17	2014-02-17		ENSG00000161692	ENSG00000161692		"""Zinc fingers, DBF-type"""	17883	protein-coding gene	gene with protein product	"""chiffon homolog B (Drosophila)"", ""zinc finger, DBF-type containing 1B"""	611661	"""DBF4 homolog B (S. cerevisiae)"""			15668232	Standard	NM_145663		Approved	FLJ13087, DRF1, ASKL1, chifb, ZDBF1B	uc002ihf.3	Q8NFT6	OTTHUMG00000165717	ENST00000315005.3:c.76G>A	17.37:g.42786728G>A	ENSP00000323663:p.Asp26Asn					DBF4B_ENST00000526915.1_Intron|DBF4B_ENST00000398338.3_Missense_Mutation_p.D26N|DBF4B_ENST00000393547.2_Missense_Mutation_p.D26N	p.D26N	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN			2	214	+		Prostate(33;0.0322)	26					D3DX56|Q8TEX0|Q96B19|Q9H912	Missense_Mutation	SNP	ENST00000315005.3	37	c.76G>A	CCDS11485.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.855389	0.71719	.	.	ENSG00000161692	ENST00000393547;ENST00000439818;ENST00000398338;ENST00000315005;ENST00000525011	T;T;T	0.52983	0.75;0.75;0.64	2.69	2.69	0.31865	.	.	.	.	.	T	0.52597	0.1744	L	0.29908	0.895	0.19775	N	0.999958	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.996;0.992;0.996	T	0.31586	-0.9938	9	0.40728	T	0.16	-1.5626	9.0019	0.36088	0.0:0.0:1.0:0.0	.	26;10;26;26	Q8NFT6-2;B4DHW6;Q8NFT6;Q8NFT6-4	.;.;DBF4B_HUMAN;.	N	26;26;26;26;10	ENSP00000377178:D26N;ENSP00000381381:D26N;ENSP00000323663:D26N	ENSP00000323663:D26N	D	+	1	0	DBF4B	40142254	0.873000	0.30073	0.543000	0.28128	0.450000	0.32258	1.229000	0.32600	1.804000	0.52760	0.462000	0.41574	GAC		0.537	DBF4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385930.1	NM_025104		7	341	0	0	0	1	0	7	341				
C7	730	broad.mit.edu	37	5	40959707	40959707	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr5:40959707A>T	ENST00000313164.9	+	12	2005	c.1646A>T	c.(1645-1647)gAg>gTg	p.E549V		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	549	CCP 1.|TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)							Ovarian(839;0.0112)				GAAGATGAGGAGCTGGAGCAC	0.522																																						ENST00000313164.9																			0											c.(1645-1647)gAg>gTg		complement component 7							73.0	81.0	78.0					5																	40959707		2030	4181	6211	SO:0001583	missense	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40959707A>T	J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.1646A>T	5.37:g.40959707A>T	ENSP00000322061:p.Glu549Val						p.E549V	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN			12	2005	+		Ovarian(839;0.0112)	549			TSP type-1 2.		Q6P3T5|Q92489	Missense_Mutation	SNP	ENST00000313164.9	37	c.1646A>T	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.298177	0.81025	.	.	ENSG00000112936	ENST00000313164;ENST00000440677	T	0.65364	-0.15	5.4	5.4	0.78164	.	0.231073	0.43747	D	0.000529	T	0.79227	0.4410	M	0.82056	2.57	0.51767	D	0.999931	D	0.69078	0.997	D	0.68039	0.955	T	0.82512	-0.0420	10	0.72032	D	0.01	-10.8489	15.4158	0.74966	1.0:0.0:0.0:0.0	.	549	P10643	CO7_HUMAN	V	549;389	ENSP00000322061:E549V	ENSP00000322061:E549V	E	+	2	0	C7	40995464	1.000000	0.71417	1.000000	0.80357	0.698000	0.40448	8.336000	0.90033	2.052000	0.61016	0.379000	0.24179	GAG		0.522	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			15	19	0	0	0	1	0	15	19				
DUSP27	92235	broad.mit.edu	37	1	167097175	167097175	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr1:167097175A>T	ENST00000361200.2	+	6	2973	c.2807A>T	c.(2806-2808)aAt>aTt	p.N936I	DUSP27_ENST00000443333.1_Missense_Mutation_p.N936I|DUSP27_ENST00000271385.5_Missense_Mutation_p.N936I|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	936	Ser-rich.				protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGCAGTATTAATAAGTGGCTC	0.502																																						ENST00000361200.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						c.(2806-2808)aAt>aTt		dual specificity phosphatase 27 (putative)							55.0	50.0	52.0					1																	167097175		2203	4300	6503	SO:0001583	missense	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167097175A>T	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.2807A>T	1.37:g.167097175A>T	ENSP00000354483:p.Asn936Ile					DUSP27_ENST00000443333.1_Missense_Mutation_p.N936I|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.N936I	p.N936I			Q5VZP5	DUS27_HUMAN			6	2973	+			936			Ser-rich.		A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	c.2807A>T	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	A	9.893	1.204668	0.22205	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03468	3.92;3.92;3.92	4.72	-1.69	0.08186	.	0.740342	0.12436	N	0.469098	T	0.01156	0.0038	L	0.51422	1.61	0.09310	N	1	P	0.37864	0.61	B	0.31191	0.125	T	0.41466	-0.9507	10	0.87932	D	0	-3.3511	6.9111	0.24335	0.3:0.4045:0.2955:0.0	.	936	Q5VZP5	DUS27_HUMAN	I	936	ENSP00000354483:N936I;ENSP00000271385:N936I;ENSP00000404874:N936I	ENSP00000271385:N936I	N	+	2	0	DUSP27	165363799	0.002000	0.14202	0.002000	0.10522	0.955000	0.61496	0.615000	0.24329	-0.526000	0.06383	0.523000	0.50628	AAT		0.502	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		12	20	0	0	0	1	0	12	20				
MUC5B	727897	broad.mit.edu	37	11	1265999	1265999	+	Missense_Mutation	SNP	T	T	C	rs371763448	byFrequency	TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr11:1265999T>C	ENST00000529681.1	+	31	7947	c.7889T>C	c.(7888-7890)cTt>cCt	p.L2630P	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.L2633P	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2630	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.|RTL -> LTP (in Ref. 4; CAA96577). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.L2630P(1)|p.L2609P(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCACGCACGCTTCCAGTGTGG	0.637													N|||	3	0.000599042	0.0	0.0014	5008	,	,		18926	0.001		0.001	False		,,,				2504	0.0					ENST00000447027.1																			2	Substitution - Missense(2)	p.L2630P(1)|p.L2609P(1)	lung(2)	cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(7897-7899)cTt>cCt		mucin 5B, oligomeric mucus/gel-forming							149.0	179.0	169.0					11																	1265999		2124	4236	6360	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1265999T>C	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.7889T>C	11.37:g.1265999T>C	ENSP00000436812:p.Leu2630Pro					MUC5B_ENST00000529681.1_Missense_Mutation_p.L2630P|RP11-532E4.2_ENST00000532061.2_RNA	p.L2633P			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	7956	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2630	Missing (in Ref. 6; AAB61398).		11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.7898T>C	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	N	2.858	-0.236815	0.05944	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844;ENST00000537836	T;T	0.24350	1.86;2.05	1.88	-3.77	0.04346	.	.	.	.	.	T	0.15262	0.0368	L	0.33485	1.01	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.29822	-0.9999	9	0.87932	D	0	.	3.6655	0.08254	0.21:0.3112:0.0:0.4788	.	3268;2633	A7Y9J9;E9PBJ0	.;.	P	2630;2633;2602;2645;171	ENSP00000436812:L2630P;ENSP00000415793:L2633P	ENSP00000343037:L2602P	L	+	2	0	MUC5B	1222575	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.943000	0.03917	-0.876000	0.04017	0.172000	0.16884	CTT		0.637	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		4	107	0	0	0	1	0	4	107				
USP9Y	8287	broad.mit.edu	37	Y	14832660	14832660	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chrY:14832660A>T	ENST00000338981.3	+	4	1180	c.235A>T	c.(235-237)Atg>Ttg	p.M79L	USP9Y_ENST00000426564.2_3'UTR	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN	ubiquitin specific peptidase 9, Y-linked	79					BMP signaling pathway (GO:0030509)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)	co-SMAD binding (GO:0070410)|cysteine-type peptidase activity (GO:0008234)|ubiquitin-specific protease activity (GO:0004843)			kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CCTGGATGACATGATCAACAG	0.428																																						ENST00000338981.3																			0				kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(235-237)Atg>Ttg		ubiquitin specific peptidase 9, Y-linked							92.0	98.0	97.0					Y																	14832660		609	1967	2576	SO:0001583	missense	8287				BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrY:14832660A>T	Y13618	CCDS14781.1	Yq11.2	2010-04-09	2009-03-17		ENSG00000114374	ENSG00000114374		"""Ubiquitin-specific peptidases"""	12633	protein-coding gene	gene with protein product	"""fat facets-like homolog (Drosophila)"""	400005	"""ubiquitin specific peptidase 9, Y-linked (fat facets-like, Drosophila)"""			8922996, 9384609, 19246359	Standard	NM_004654		Approved	DFFRY	uc004fst.1	O00507	OTTHUMG00000036469	ENST00000338981.3:c.235A>T	Y.37:g.14832660A>T	ENSP00000342812:p.Met79Leu					USP9Y_ENST00000426564.2_3'UTR	p.M79L	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN			4	1180	+			79					O14601	Missense_Mutation	SNP	ENST00000338981.3	37	c.235A>T	CCDS14781.1																																																																																				0.428	USP9Y-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088703.2	NM_004654		32	35	0	0	0	1	0	32	35				
KIF26B	55083	broad.mit.edu	37	1	245530315	245530315	+	Missense_Mutation	SNP	C	C	G	rs376590964		TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr1:245530315C>G	ENST00000407071.2	+	3	1085	c.645C>G	c.(643-645)gaC>gaG	p.D215E	KIF26B_ENST00000479506.1_3'UTR	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	215					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AGCACTACGACGCCTCGCCCT	0.657																																						ENST00000407071.2																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(643-645)gaC>gaG		kinesin family member 26B							23.0	28.0	26.0					1																	245530315		2147	4230	6377	SO:0001583	missense	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245530315C>G	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.645C>G	1.37:g.245530315C>G	ENSP00000385545:p.Asp215Glu					KIF26B_ENST00000479506.1_3'UTR	p.D215E	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		3	1085	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		215					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	c.645C>G	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	C	7.254	0.603761	0.14002	.	.	ENSG00000162849	ENST00000407071	T	0.78481	-1.18	5.27	-5.37	0.02681	.	0.455576	0.22986	N	0.053253	T	0.74520	0.3727	L	0.48362	1.52	0.80722	D	1	P;D	0.65815	0.935;0.995	P;P	0.57502	0.518;0.822	T	0.74306	-0.3708	10	0.87932	D	0	.	7.4099	0.27011	0.1032:0.377:0.0:0.5198	.	215;215	B4DF75;Q2KJY2	.;KI26B_HUMAN	E	215	ENSP00000385545:D215E	ENSP00000385545:D215E	D	+	3	2	KIF26B	243596938	0.632000	0.27172	0.003000	0.11579	0.015000	0.08874	-0.186000	0.09670	-1.281000	0.02399	-0.768000	0.03414	GAC		0.657	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		8	17	0	0	0	1	0	8	17				
OR10A4	283297	broad.mit.edu	37	11	6898608	6898608	+	Missense_Mutation	SNP	G	G	A	rs199861369		TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr11:6898608G>A	ENST00000379829.2	+	1	753	c.730G>A	c.(730-732)Gcc>Acc	p.A244T		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	244					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A244T(2)		kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CACCTGTTCCGCCCACCTCTT	0.527																																						ENST00000379829.2																			2	Substitution - Missense(2)	p.A244T(2)	prostate(1)|lung(1)	kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31						c.(730-732)Gcc>Acc		olfactory receptor, family 10, subfamily A, member 4			THR/ALA	1,4401	2.1+/-5.4	0,1,2200	200.0	149.0	167.0		730	3.2	1.0	11		167	1,8591	1.2+/-3.3	0,1,4295	yes	missense	OR10A4	NM_207186.2	58	0,2,6495	AA,AG,GG		0.0116,0.0227,0.0154	benign	244/316	6898608	2,12992	2201	4296	6497	SO:0001583	missense	283297				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6898608G>A	AF209506	CCDS7774.1	11p15.4	2012-08-09	2002-11-13	2004-03-10	ENSG00000170782	ENSG00000170782		"""GPCR / Class A : Olfactory receptors"""	15130	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily A, member 4 pseudogene"""	OR10A4P			Standard	NM_207186		Approved		uc010rat.2	Q9H209	OTTHUMG00000165740	ENST00000379829.2:c.730G>A	11.37:g.6898608G>A	ENSP00000369157:p.Ala244Thr						p.A244T	NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	753	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	244					B2RNP5|B9EH36|Q96R20	Missense_Mutation	SNP	ENST00000379829.2	37	c.730G>A	CCDS7774.1	.	.	.	.	.	.	.	.	.	.	g	12.73	2.025628	0.35701	2.27E-4	1.16E-4	ENSG00000170782	ENST00000379829	T	0.37235	1.21	4.32	3.19	0.36642	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44483	D	0.000447	T	0.33990	0.0882	L	0.59436	1.845	0.22601	N	0.998948	B	0.09022	0.002	B	0.17098	0.017	T	0.36578	-0.9742	10	0.87932	D	0	.	9.8659	0.41142	0.0:0.0:0.1728:0.8271	.	244	Q9H209	O10A4_HUMAN	T	244	ENSP00000369157:A244T	ENSP00000369157:A244T	A	+	1	0	OR10A4	6855184	0.615000	0.27026	1.000000	0.80357	0.964000	0.63967	0.780000	0.26760	0.982000	0.38575	-0.272000	0.10252	GCC		0.527	OR10A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385985.1	NM_207186		32	76	0	0	0	1	0	32	76				
SELENBP1	8991	broad.mit.edu	37	1	151337669	151337669	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr1:151337669A>G	ENST00000368868.5	-	10	1224	c.1133T>C	c.(1132-1134)gTc>gCc	p.V378A	SELENBP1_ENST00000473693.1_5'Flank|SELENBP1_ENST00000447402.3_Missense_Mutation_p.V316A|SELENBP1_ENST00000435071.1_Missense_Mutation_p.V314A|SELENBP1_ENST00000426705.2_Missense_Mutation_p.V420A	NM_003944.3	NP_003935.2	Q13228	SBP1_HUMAN	selenium binding protein 1	378					protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	selenium binding (GO:0008430)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TCTTACCTTGACCACTAGGGG	0.582																																						ENST00000426705.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20						c.(1258-1260)gTc>gCc		selenium binding protein 1							54.0	54.0	54.0					1																	151337669		2203	4300	6503	SO:0001583	missense	8991				protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding	g.chr1:151337669A>G	U29091	CCDS995.1, CCDS58027.1, CCDS60266.1	1q21.3	2014-05-19			ENSG00000143416	ENSG00000143416			10719	protein-coding gene	gene with protein product		604188				9027582	Standard	NM_003944		Approved	hSP56, hSBP, LPSB	uc010pcy.3	Q13228	OTTHUMG00000012498	ENST00000368868.5:c.1133T>C	1.37:g.151337669A>G	ENSP00000357861:p.Val378Ala					SELENBP1_ENST00000447402.3_Missense_Mutation_p.V316A|SELENBP1_ENST00000368868.5_Missense_Mutation_p.V378A|SELENBP1_ENST00000435071.1_Missense_Mutation_p.V314A	p.V420A	NM_001258289.1	NP_001245218.1	Q13228	SBP1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		10	1403	-	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		378					A6NML9|A6PVW9|B2RDR3|B4DKP6|B4E1F3|Q49AQ8|Q96GX7	Missense_Mutation	SNP	ENST00000368868.5	37	c.1259T>C	CCDS995.1	.	.	.	.	.	.	.	.	.	.	A	17.27	3.347632	0.61183	.	.	ENSG00000143416	ENST00000368868;ENST00000447402;ENST00000435071	.	.	.	4.59	4.59	0.56863	.	0.127161	0.52532	D	0.000062	T	0.29524	0.0736	L	0.35593	1.075	0.44946	D	0.997964	P;P;P;B	0.41929	0.656;0.462;0.765;0.149	B;B;B;B	0.42495	0.389;0.175;0.281;0.133	T	0.31613	-0.9937	9	0.72032	D	0.01	-19.9471	8.3502	0.32297	0.9072:0.0:0.0928:0.0	.	316;231;314;378	B4E1F3;B4DPI7;Q13228-2;Q13228	.;.;.;SBP1_HUMAN	A	378;316;314	.	ENSP00000357861:V378A	V	-	2	0	SELENBP1	149604293	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	8.236000	0.89805	1.932000	0.55993	0.533000	0.62120	GTC		0.582	SELENBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034904.4			4	22	0	0	0	1	0	4	22				
GBF1	8729	broad.mit.edu	37	10	104119951	104119951	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr10:104119951G>T	ENST00000369983.3	+	12	1448	c.1188G>T	c.(1186-1188)ttG>ttT	p.L396F	GBF1_ENST00000476019.1_Intron	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	396					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GCACAGCTTTGGTCCCCTATG	0.527																																						ENST00000369983.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(1186-1188)ttG>ttT		golgi brefeldin A resistant guanine nucleotide exchange factor 1							338.0	333.0	335.0					10																	104119951		2203	4300	6503	SO:0001583	missense	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104119951G>T	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.1188G>T	10.37:g.104119951G>T	ENSP00000359000:p.Leu396Phe					GBF1_ENST00000476019.1_Intron	p.L396F	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	12	1448	+		Colorectal(252;0.0236)	396					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	c.1188G>T	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.618929	0.66787	.	.	ENSG00000107862	ENST00000369983	T	0.69685	-0.42	5.48	4.56	0.56223	.	0.063518	0.64402	D	0.000007	T	0.70491	0.3230	M	0.64997	1.995	0.53005	D	0.999964	P;D;D	0.56287	0.956;0.975;0.961	P;P;P	0.53861	0.671;0.736;0.64	T	0.69292	-0.5183	10	0.37606	T	0.19	-6.8909	9.1084	0.36712	0.2228:0.0:0.7772:0.0	.	396;396;396	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	F	396	ENSP00000359000:L396F	ENSP00000359000:L396F	L	+	3	2	GBF1	104109941	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.574000	0.36482	1.294000	0.44707	0.650000	0.86243	TTG		0.527	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			106	339	1	0	7.35891e-43	1	8.77618e-43	106	339				
DDX28	55794	broad.mit.edu	37	16	68056207	68056207	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr16:68056207A>T	ENST00000332395.5	-	1	1563	c.899T>A	c.(898-900)gTg>gAg	p.V300E	DUS2_ENST00000358896.6_5'Flank|DUS2_ENST00000565263.1_5'Flank|DUS2_ENST00000432752.1_5'Flank	NM_018380.3	NP_060850.2	Q9NUL7	DDX28_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 28	300	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)		GATGTAGTCCACCAGTTCCAG	0.507																																						ENST00000332395.5																			0				central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	13						c.(898-900)gTg>gAg		DEAD (Asp-Glu-Ala-Asp) box polypeptide 28							116.0	114.0	114.0					16																	68056207		2198	4300	6498	SO:0001583	missense	55794					mitochondrial nucleoid|nucleus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr16:68056207A>T	AF329821	CCDS10858.1	16q22.1-q22.3	2008-02-05	2003-06-13		ENSG00000182810	ENSG00000182810		"""DEAD-boxes"""	17330	protein-coding gene	gene with protein product		607618	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 28"""			10493829, 11350955	Standard	NM_018380		Approved	MDDX28, FLJ11282	uc002evh.2	Q9NUL7	OTTHUMG00000137549	ENST00000332395.5:c.899T>A	16.37:g.68056207A>T	ENSP00000332340:p.Val300Glu						p.V300E	NM_018380.3	NP_060850.2	Q9NUL7	DDX28_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)	1	1563	-		Ovarian(137;0.0563)	300			Helicase ATP-binding.			Missense_Mutation	SNP	ENST00000332395.5	37	c.899T>A	CCDS10858.1	.	.	.	.	.	.	.	.	.	.	A	17.84	3.488562	0.64074	.	.	ENSG00000182810	ENST00000332395	T	0.17213	2.29	5.57	5.57	0.84162	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.211790	0.41097	D	0.000945	T	0.41766	0.1173	M	0.83483	2.645	0.37718	D	0.924818	D	0.58970	0.984	D	0.67900	0.954	T	0.52741	-0.8535	10	0.87932	D	0	-15.7867	9.8797	0.41225	0.923:0.0:0.077:0.0	.	300	Q9NUL7	DDX28_HUMAN	E	300	ENSP00000332340:V300E	ENSP00000332340:V300E	V	-	2	0	DDX28	66613708	1.000000	0.71417	0.998000	0.56505	0.548000	0.35241	4.779000	0.62375	2.129000	0.65627	0.533000	0.62120	GTG		0.507	DDX28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268883.1	NM_018380		23	91	0	0	0	1	0	23	91				
MAGI2	9863	broad.mit.edu	37	7	77973178	77973178	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr7:77973178C>A	ENST00000354212.4	-	9	1578	c.1325G>T	c.(1324-1326)gGt>gTt	p.G442V	MAGI2_ENST00000535697.1_Missense_Mutation_p.G279V|MAGI2_ENST00000536571.1_Missense_Mutation_p.G274V|MAGI2_ENST00000419488.1_Missense_Mutation_p.G442V|MAGI2_ENST00000522391.1_Missense_Mutation_p.G442V	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	442	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CTCGTCTCCACCAATGATGGT	0.488																																						ENST00000354212.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(1324-1326)gGt>gTt		membrane associated guanylate kinase, WW and PDZ domain containing 2							123.0	106.0	112.0					7																	77973178		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77973178C>A	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.1325G>T	7.37:g.77973178C>A	ENSP00000346151:p.Gly442Val					MAGI2_ENST00000536571.1_Missense_Mutation_p.G274V|MAGI2_ENST00000419488.1_Missense_Mutation_p.G442V|MAGI2_ENST00000535697.1_Missense_Mutation_p.G279V|MAGI2_ENST00000522391.1_Missense_Mutation_p.G442V	p.G442V	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN			9	1578	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	442			PDZ 2.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.1325G>T	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.836172	0.91117	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391;ENST00000536571;ENST00000535697	T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47	5.81	5.81	0.92471	PDZ/DHR/GLGF (4);	0.000000	0.37261	U	0.002172	T	0.72120	0.3421	H	0.97659	4.05	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	T	0.82228	-0.0561	10	0.87932	D	0	.	19.0794	0.93175	0.0:1.0:0.0:0.0	.	279;274;442;442;442;442	F5GWH1;F5GWK7;B7Z4H4;E7EWI0;Q86UL8-2;Q86UL8	.;.;.;.;.;MAGI2_HUMAN	V	442;442;442;442;274;279	ENSP00000405766:G442V;ENSP00000346151:G442V;ENSP00000428389:G442V;ENSP00000441584:G274V;ENSP00000441603:G279V	ENSP00000346151:G442V	G	-	2	0	MAGI2	77811114	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.746000	0.94184	0.591000	0.81541	GGT		0.488	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		11	35	1	0	9.70103e-10	1	1.05531e-09	11	35				
TPP2	7174	broad.mit.edu	37	13	103249403	103249403	+	Silent	SNP	G	G	A			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr13:103249403G>A	ENST00000376065.4	+	1	51	c.15G>A	c.(13-15)gcG>gcA	p.A5A	TPP2_ENST00000376052.3_Silent_p.A5A	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	5					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CCACCGCTGCGACTGAGGAGC	0.687																																						ENST00000376052.3																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52						c.(13-15)gcG>gcA		tripeptidyl peptidase II							23.0	26.0	25.0					13																	103249403		2201	4299	6500	SO:0001819	synonymous_variant	7174				proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr13:103249403G>A	M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.15G>A	13.37:g.103249403G>A						TPP2_ENST00000376065.4_Silent_p.A5A	p.A5A			P29144	TPP2_HUMAN			1	31	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		5					Q5VZU8	Silent	SNP	ENST00000376065.4	37	c.15G>A	CCDS9502.1																																																																																				0.687	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2			6	13	0	0	0	1	0	6	13				
BMPR2	659	broad.mit.edu	37	2	203329550	203329550	+	Missense_Mutation	SNP	G	G	A	rs368430622		TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr2:203329550G>A	ENST00000374580.4	+	2	634	c.95G>A	c.(94-96)cGg>cAg	p.R32Q	BMPR2_ENST00000374574.2_Missense_Mutation_p.R32Q|BMPR2_ENST00000479069.1_3'UTR	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	32					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						AATCAAGAACGGCTATGTGCG	0.343																																						ENST00000374580.4																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						c.(94-96)cGg>cAg		bone morphogenetic protein receptor, type II (serine/threonine kinase)		G	GLN/ARG	0,4406		0,0,2203	76.0	75.0	75.0		95	5.4	1.0	2		75	1,8599	1.2+/-3.3	0,1,4299	no	missense	BMPR2	NM_001204.6	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	32/1039	203329550	1,13005	2203	4300	6503	SO:0001583	missense	659				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity	g.chr2:203329550G>A	Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"""primary pulmonary hypertension 1"""	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.95G>A	2.37:g.203329550G>A	ENSP00000363708:p.Arg32Gln					BMPR2_ENST00000374574.2_Missense_Mutation_p.R32Q|BMPR2_ENST00000479069.1_3'UTR	p.R32Q	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN			2	634	+			32					Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Missense_Mutation	SNP	ENST00000374580.4	37	c.95G>A	CCDS33361.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.536918	0.85812	0.0	1.16E-4	ENSG00000204217	ENST00000374580;ENST00000374574	D;D	0.98666	-5.06;-5.06	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.96969	0.9010	L	0.27053	0.805	0.49915	D	0.999832	D;D;D	0.67145	0.988;0.996;0.996	P;P;P	0.49597	0.616;0.616;0.616	D	0.96154	0.9110	10	0.28530	T	0.3	.	15.6047	0.76658	0.0:0.1377:0.8623:0.0	.	32;32;32	Q13161;Q13873;A8K8R5	.;BMPR2_HUMAN;.	Q	32	ENSP00000363708:R32Q;ENSP00000363702:R32Q	ENSP00000363702:R32Q	R	+	2	0	BMPR2	203037795	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.856000	0.62932	2.564000	0.86499	0.609000	0.83330	CGG		0.343	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257743.1	NM_001204		36	36	0	0	0	1	0	36	36				
NCLN	56926	broad.mit.edu	37	19	3207443	3207443	+	Silent	SNP	C	C	T			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr19:3207443C>T	ENST00000246117.4	+	14	2039	c.1608C>T	c.(1606-1608)ctC>ctT	p.L536L	NCLN_ENST00000590671.1_Silent_p.L462L	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN	nicalin	536					regulation of signal transduction (GO:0009966)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCCTACCTCGGCATGGCCT	0.672																																						ENST00000246117.4																			0				kidney(1)|lung(3)|skin(1)	5						c.(1606-1608)ctC>ctT		nicalin							104.0	98.0	100.0					19																	3207443		2202	4300	6502	SO:0001819	synonymous_variant	56926				proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding	g.chr19:3207443C>T	BC025926	CCDS32869.1	19p13.3	2010-08-13	2010-08-13			ENSG00000125912			26923	protein-coding gene	gene with protein product	"""nicastrin-like protein"""	609156	"""nicalin homolog (zebrafish)"""			11230166	Standard	NM_020170		Approved	NICALIN, NET59	uc002lxi.3	Q969V3		ENST00000246117.4:c.1608C>T	19.37:g.3207443C>T						NCLN_ENST00000590671.1_Silent_p.L462L	p.L536L	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)	14	2039	+		Hepatocellular(1079;0.137)	536					D6W613|O75252|Q6FI60|Q6ZMB7|Q8TAT7|Q96H48|Q96IS7|Q9BQH9|Q9BTX4|Q9NPP2	Silent	SNP	ENST00000246117.4	37	c.1608C>T	CCDS32869.1																																																																																				0.672	NCLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452545.1	NM_020170		54	108	0	0	0	1	0	54	108				
COLGALT2	23127	broad.mit.edu	37	1	183944297	183944297	+	Silent	SNP	G	G	C			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr1:183944297G>C	ENST00000361927.4	-	3	797	c.426C>G	c.(424-426)gcC>gcG	p.A142A	COLGALT2_ENST00000546159.1_Silent_p.A142A	NM_015101.2	NP_055916.1	Q8IYK4	GT252_HUMAN	collagen beta(1-O)galactosyltransferase 2	142					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)	procollagen galactosyltransferase activity (GO:0050211)										TCATCACATGGGCAAACCGGG	0.428																																						ENST00000361927.4																			0											c.(424-426)gcC>gcG		collagen beta(1-O)galactosyltransferase 2							102.0	96.0	98.0					1																	183944297		2203	4300	6503	SO:0001819	synonymous_variant	23127							g.chr1:183944297G>C	AF288389	CCDS1360.1	1q25	2013-02-27	2013-02-27	2013-02-27	ENSG00000198756	ENSG00000198756			16790	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 17"", ""glycosyltransferase 25 domain containing 2"""	C1orf17, GLT25D2		19075007	Standard	XM_005245008		Approved	KIAA0584	uc001gqr.3	Q8IYK4	OTTHUMG00000035460	ENST00000361927.4:c.426C>G	1.37:g.183944297G>C						COLGALT2_ENST00000546159.1_Silent_p.A142A	p.A142A	NM_015101.2	NP_055916.1					3	797	-								O60327|Q9BZR0	Silent	SNP	ENST00000361927.4	37	c.426C>G	CCDS1360.1																																																																																				0.428	COLGALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086128.1	NM_015101		14	113	0	0	0	1	0	14	113				
SLC8A3	6547	broad.mit.edu	37	14	70634203	70634203	+	Missense_Mutation	SNP	G	G	A	rs369662157		TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr14:70634203G>A	ENST00000381269.2	-	2	1690	c.937C>T	c.(937-939)Cgc>Tgc	p.R313C	SLC8A3_ENST00000534137.1_Missense_Mutation_p.R313C|SLC8A3_ENST00000356921.2_Missense_Mutation_p.R313C|SLC8A3_ENST00000357887.3_Missense_Mutation_p.R313C|SLC8A3_ENST00000528359.1_Missense_Mutation_p.R313C	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	313					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		ATCTCTCTGCGGGACTCATCC	0.488																																						ENST00000381269.2																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54						c.(937-939)Cgc>Tgc		solute carrier family 8 (sodium/calcium exchanger), member 3		G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	99.0	96.0	97.0		937,937,937,937	5.8	1.0	14		97	0,8600		0,0,4300	no	missense,missense,missense,missense	SLC8A3	NM_033262.3,NM_058240.2,NM_182932.1,NM_183002.1	180,180,180,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	313/926,313/925,313/922,313/928	70634203	1,13005	2203	4300	6503	SO:0001583	missense	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70634203G>A	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.937C>T	14.37:g.70634203G>A	ENSP00000370669:p.Arg313Cys					SLC8A3_ENST00000356921.2_Missense_Mutation_p.R313C|SLC8A3_ENST00000357887.3_Missense_Mutation_p.R313C|SLC8A3_ENST00000528359.1_Missense_Mutation_p.R313C|SLC8A3_ENST00000534137.1_Missense_Mutation_p.R313C	p.R313C	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	2	1690	-			313					Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	c.937C>T	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.068402	0.55539	2.27E-4	0.0	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.40756	1.1;1.02;1.16;1.1;1.16	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.70228	0.3200	M	0.83312	2.635	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.996;0.996	T	0.73154	-0.4072	10	0.87932	D	0	.	20.1649	0.98147	0.0:0.0:1.0:0.0	.	313;313;313;313	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	C	313	ENSP00000349392:R313C;ENSP00000370669:R313C;ENSP00000350560:R313C;ENSP00000436688:R313C;ENSP00000433531:R313C	ENSP00000349392:R313C	R	-	1	0	SLC8A3	69703956	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	7.956000	0.87863	2.753000	0.94483	0.655000	0.94253	CGC		0.488	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			37	79	0	0	0	1	0	37	79				
KIF9	64147	broad.mit.edu	37	3	47287699	47287699	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr3:47287699C>A	ENST00000265529.3	-	14	1957	c.1277G>T	c.(1276-1278)cGg>cTg	p.R426L	KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000352910.4_Missense_Mutation_p.R333L|KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000452770.2_Missense_Mutation_p.R426L|KIF9_ENST00000444589.2_Missense_Mutation_p.R426L|KIF9_ENST00000335044.2_Missense_Mutation_p.R426L			Q9HAQ2	KIF9_HUMAN	kinesin family member 9	426					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle disassembly (GO:1903008)|regulation of podosome assembly (GO:0071801)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|podosome (GO:0002102)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein dimerization activity (GO:0046983)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CAGAACCACCCGGAACTGGTT	0.562																																					Colon(44;962 1147 15977 24541)	ENST00000335044.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34						c.(1276-1278)cGg>cTg		kinesin family member 9							72.0	58.0	63.0					3																	47287699		2202	4300	6502	SO:0001583	missense	64147				blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr3:47287699C>A	AF311212	CCDS2751.1, CCDS2752.1	3p21.31	2008-03-03			ENSG00000088727	ENSG00000088727		"""Kinesins"""	16666	protein-coding gene	gene with protein product		607910				11483511	Standard	NM_022342		Approved	MGC104186	uc003cqx.3	Q9HAQ2	OTTHUMG00000133512	ENST00000265529.3:c.1277G>T	3.37:g.47287699C>A	ENSP00000265529:p.Arg426Leu					KIF9_ENST00000452770.2_Missense_Mutation_p.R426L|KIF9_ENST00000265529.3_Missense_Mutation_p.R426L|KIF9_ENST00000352910.4_Missense_Mutation_p.R333L|KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000444589.2_Missense_Mutation_p.R426L	p.R426L	NM_001134878.1|NM_182902.3	NP_001128350.1|NP_878905.2	Q9HAQ2	KIF9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	13	1634	-		Acute lymphoblastic leukemia(5;0.164)	426					Q86Z28|Q9H8A4	Missense_Mutation	SNP	ENST00000265529.3	37	c.1277G>T	CCDS2752.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.448290	0.43429	.	.	ENSG00000088727	ENST00000335044;ENST00000265529;ENST00000444589;ENST00000452770;ENST00000352910	T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63	5.16	3.23	0.37069	.	0.123987	0.51477	D	0.000084	T	0.50871	0.1641	L	0.39898	1.24	0.31504	N	0.664472	D;P	0.67145	0.996;0.902	D;P	0.66602	0.945;0.565	T	0.54576	-0.8273	10	0.44086	T	0.13	.	5.6594	0.17660	0.0:0.699:0.0:0.301	.	426;426	Q9HAQ2-2;Q9HAQ2	.;KIF9_HUMAN	L	426;426;426;426;333	ENSP00000333942:R426L;ENSP00000265529:R426L;ENSP00000414987:R426L;ENSP00000391100:R426L;ENSP00000292334:R333L	ENSP00000265529:R426L	R	-	2	0	KIF9	47262703	1.000000	0.71417	1.000000	0.80357	0.029000	0.11900	2.743000	0.47442	1.418000	0.47098	-0.145000	0.13849	CGG		0.562	KIF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257475.2			5	22	1	0	0.0215528	1	0.0218239	5	22				
DCAF11	80344	broad.mit.edu	37	14	24592244	24592244	+	Silent	SNP	C	C	T			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr14:24592244C>T	ENST00000446197.3	+	14	2191	c.1464C>T	c.(1462-1464)gaC>gaT	p.D488D	DCAF11_ENST00000396941.4_Silent_p.D462D|DCAF11_ENST00000396936.1_Silent_p.D388D|DCAF11_ENST00000559115.1_Silent_p.D488D|RP11-468E2.6_ENST00000558325.1_Missense_Mutation_p.R78C	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	488					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)											GTGTGCGTGACGTCAGTTGGC	0.562																																						ENST00000558325.1																			0											c.(232-234)Cgt>Tgt									167.0	135.0	146.0					14																	24592244		2203	4300	6503	SO:0001819	synonymous_variant	80344							g.chr14:24592244C>T	AF130070	CCDS9610.1, CCDS41929.1	14q11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000100897	ENSG00000100897		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20258	protein-coding gene	gene with protein product		613317	"""WD repeat domain 23"""	WDR23			Standard	NM_025230		Approved	PRO2389, GL014	uc001wlv.3	Q8TEB1	OTTHUMG00000028793	ENST00000446197.3:c.1464C>T	14.37:g.24592244C>T						DCAF11_ENST00000559115.1_Silent_p.D488D|DCAF11_ENST00000446197.3_Silent_p.D488D|DCAF11_ENST00000396941.4_Silent_p.D462D|DCAF11_ENST00000396936.1_Silent_p.D388D	p.R78C							2	232	+								B3KQ83|D3DS56|Q5D039|Q86U00|Q86U39|Q8NDN2|Q9H2J0|Q9H3A3|Q9H5C9	Missense_Mutation	SNP	ENST00000446197.3	37	c.232C>T	CCDS9610.1																																																																																				0.562	DCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071907.4			16	82	0	0	0	1	0	16	82				
CCHCR1	54535	broad.mit.edu	37	6	31118256	31118256	+	Silent	SNP	C	C	T			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr6:31118256C>T	ENST00000376266.5	-	7	1043	c.921G>A	c.(919-921)ctG>ctA	p.L307L	CCHCR1_ENST00000396263.2_Silent_p.L307L|CCHCR1_ENST00000451521.2_Silent_p.L360L|CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000396268.3_Silent_p.L396L	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	307					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						CCTCCTCCTGCAGGGCGAGGA	0.672																																						ENST00000396268.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						c.(1186-1188)ctG>ctA		coiled-coil alpha-helical rod protein 1							65.0	42.0	50.0					6																	31118256		1509	2709	4218	SO:0001819	synonymous_variant	54535				cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding	g.chr6:31118256C>T	AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"""chromosome 6 open reading frame 18"""	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.921G>A	6.37:g.31118256C>T						CCHCR1_ENST00000376266.5_Silent_p.L307L|CCHCR1_ENST00000451521.2_Silent_p.L360L|CCHCR1_ENST00000396263.2_Silent_p.L307L|CCHCR1_ENST00000480060.1_Intron	p.L396L	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN			7	1376	-			307					A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Silent	SNP	ENST00000376266.5	37	c.1188G>A	CCDS4695.1																																																																																				0.672	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076190.5	NM_019052		7	38	0	0	0	1	0	7	38				
CPNE9	151835	broad.mit.edu	37	3	9754511	9754511	+	Splice_Site	SNP	A	A	G			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr3:9754511A>G	ENST00000383832.3	+	9	734	c.544A>G	c.(544-546)Acg>Gcg	p.T182A	CPNE9_ENST00000383831.3_Splice_Site_p.T182A	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	182	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					TGAGGATGGCACGTGAGTCAC	0.517																																						ENST00000383832.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16						c.e9+1		copine family member IX							82.0	88.0	86.0					3																	9754511		2162	4297	6459	SO:0001630	splice_region_variant	151835							g.chr3:9754511A>G		CCDS2574.2	3p25.3	2008-10-30			ENSG00000144550	ENSG00000144550			24336	protein-coding gene	gene with protein product						9430674	Standard	XM_006712990		Approved	KIAA4217	uc003bsd.3	Q8IYJ1	OTTHUMG00000128418	ENST00000383832.3:c.545+1A>G	3.37:g.9754511A>G						CPNE9_ENST00000383831.3_Splice_Site_p.T182_splice	p.T182_splice	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN			9	734	+	Medulloblastoma(99;0.227)		182			C2 2.		A1L430|A6NDX6|A8MSP8	Splice_Site	SNP	ENST00000383832.3	37	c.545_splice	CCDS2574.2	.	.	.	.	.	.	.	.	.	.	A	20.2	3.946091	0.73672	.	.	ENSG00000144550	ENST00000383832;ENST00000383831	T;T	0.38887	1.11;1.11	5.15	5.15	0.70609	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.056128	0.64402	D	0.000001	T	0.39462	0.1079	L	0.33093	0.98	0.53688	D	0.999974	B	0.32893	0.389	B	0.39935	0.314	T	0.31916	-0.9926	10	0.46703	T	0.11	.	14.6586	0.68852	1.0:0.0:0.0:0.0	.	182	Q8IYJ1	CPNE9_HUMAN	A	182	ENSP00000373343:T182A;ENSP00000373342:T182A	ENSP00000373342:T182A	T	+	1	0	CPNE9	9729511	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.286000	0.78671	1.957000	0.56846	0.533000	0.62120	ACG		0.517	CPNE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250205.4	NM_001033755	Missense_Mutation	19	37	0	0	0	1	0	19	37				
CDK5RAP1	51654	broad.mit.edu	37	20	31975138	31975138	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr20:31975138G>T	ENST00000357886.4	-	6	899	c.746C>A	c.(745-747)tCt>tAt	p.S249Y	CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.S249Y|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.S249Y|CDK5RAP1_ENST00000473997.1_Missense_Mutation_p.S159Y|CDK5RAP1_ENST00000477105.1_5'UTR|CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.S249Y			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	249					brain development (GO:0007420)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|regulation of neuron differentiation (GO:0045664)|tRNA modification (GO:0006400)	cytoplasm (GO:0005737)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						CACAAAGGCAGACGTGGCACT	0.507																																						ENST00000357886.4																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						c.(745-747)tCt>tAt		CDK5 regulatory subunit associated protein 1							66.0	56.0	60.0					20																	31975138		2203	4300	6503	SO:0001583	missense	51654				brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity	g.chr20:31975138G>T	AF152097	CCDS13219.1, CCDS63255.1	20q11.21	2012-09-20	2002-07-22	2002-07-26	ENSG00000101391	ENSG00000101391			15880	protein-coding gene	gene with protein product		608200	"""chromosome 20 open reading frame 34"""	C20orf34		10721722, 11882646, 15329498	Standard	NM_016408		Approved	CGI-05, HSPC167, C42	uc002wyy.4	Q96SZ6	OTTHUMG00000032256	ENST00000357886.4:c.746C>A	20.37:g.31975138G>T	ENSP00000350558:p.Ser249Tyr					CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.S249Y|CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.S249Y|CDK5RAP1_ENST00000452723.3_Missense_Mutation_p.S159Y|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.S249Y|CDK5RAP1_ENST00000473997.1_5'UTR	p.S249Y			Q96SZ6	CK5P1_HUMAN			6	899	-			249					A8K7R0|Q5QP46|Q5QP47|Q5QP48|Q675N4|Q675N5|Q9BVG6|Q9BWZ5|Q9H859|Q9NZZ9|Q9Y3F0	Missense_Mutation	SNP	ENST00000357886.4	37	c.746C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.86|16.86	3.240103|3.240103	0.58995|0.58995	.|.	.|.	ENSG00000101391|ENSG00000101391	ENST00000427097|ENST00000346416;ENST00000357886;ENST00000339269;ENST00000452723;ENST00000375351;ENST00000544843	.|T;T;T;T;T	.|0.26660	.|1.72;1.72;1.72;1.72;1.72	4.8|4.8	4.8|4.8	0.61643|0.61643	.|Elongator protein 3/MiaB/NifB (1);Radical SAM, alpha/beta horseshoe (1);	.|0.224810	.|0.45361	.|D	.|0.000371	T|T	0.53514|0.53514	0.1801|0.1801	M|M	0.81942|0.81942	2.565|2.565	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D;D;D;D;D;D	.|0.76494	.|0.999;0.999;0.985;0.985;0.996;0.991;0.984	.|D;D;P;P;P;D;D	.|0.85130	.|0.928;0.997;0.88;0.88;0.88;0.944;0.919	T|T	0.59553|0.59553	-0.7433|-0.7433	5|10	.|0.87932	.|D	.|0	-14.3554|-14.3554	15.4024|15.4024	0.74852|0.74852	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|249;249;249;249;249;249;159	.|Q675N4;Q96SZ6-4;Q96SZ6;Q675N5;Q53H36;Q96SZ6-3;Q96SZ6-2	.|.;.;CK5P1_HUMAN;.;.;.;.	M|Y	68|249;249;249;159;139;249	.|ENSP00000217372:S249Y;ENSP00000350558:S249Y;ENSP00000341840:S249Y;ENSP00000408133:S159Y;ENSP00000439034:S249Y	.|ENSP00000341840:S249Y	L|S	-|-	1|2	2|0	CDK5RAP1|CDK5RAP1	31438799|31438799	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.801000|0.801000	0.45260|0.45260	4.903000|4.903000	0.63272|0.63272	2.479000|2.479000	0.83701|0.83701	0.563000|0.563000	0.77884|0.77884	CTG|TCT		0.507	CDK5RAP1-011	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000078697.1	NM_016408		19	30	1	0	7.21436e-19	1	8.29652e-19	19	30				
CD2	914	broad.mit.edu	37	1	117297443	117297443	+	Nonsense_Mutation	SNP	T	T	A			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr1:117297443T>A	ENST00000369478.3	+	2	360	c.252T>A	c.(250-252)taT>taA	p.Y84*	CD2_ENST00000369477.1_Nonsense_Mutation_p.Y84*	NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	84	Ig-like V-type.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|heterotypic cell-cell adhesion (GO:0034113)|leukocyte migration (GO:0050900)|membrane raft polarization (GO:0001766)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of myeloid dendritic cell activation (GO:0030887)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of T cell differentiation (GO:0045580)|single organismal cell-cell adhesion (GO:0016337)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	AAGATACATATAAGCTATTTA	0.299																																					NSCLC(14;263 555 26380 43512 51332)	ENST00000369478.3																			0				NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18						c.(250-252)taT>taA		CD2 molecule	Alefacept(DB00092)						37.0	39.0	39.0					1																	117297443		2201	4295	6496	SO:0001587	stop_gained	914				blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity	g.chr1:117297443T>A	BC033583	CCDS889.1	1p13	2013-01-11	2006-03-28		ENSG00000116824	ENSG00000116824		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1639	protein-coding gene	gene with protein product		186990	"""CD2 antigen (p50), sheep red blood cell receptor"""	SRBC		2437578	Standard	NM_001767		Approved		uc001egu.4	P06729	OTTHUMG00000022750	ENST00000369478.3:c.252T>A	1.37:g.117297443T>A	ENSP00000358490:p.Tyr84*					CD2_ENST00000369477.1_Nonsense_Mutation_p.Y84*	p.Y84*	NM_001767.3	NP_001758.2	P06729	CD2_HUMAN		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	2	360	+	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)	84			Ig-like V-type.		Q96TE5	Nonsense_Mutation	SNP	ENST00000369478.3	37	c.252T>A	CCDS889.1	.	.	.	.	.	.	.	.	.	.	T	13.89	2.372974	0.42105	.	.	ENSG00000116824	ENST00000369478;ENST00000369477	.	.	.	4.27	-7.79	0.01218	.	0.384102	0.24933	N	0.034455	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.086	13.423	0.61009	0.0:0.2057:0.0:0.7943	.	.	.	.	X	84	.	ENSP00000358489:Y84X	Y	+	3	2	CD2	117098966	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.765000	0.00783	-1.912000	0.01081	-0.371000	0.07208	TAT		0.299	CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059039.2	NM_001767		17	35	0	0	0	1	0	17	35				
SLC24A4	123041	broad.mit.edu	37	14	92908448	92908448	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr14:92908448G>A	ENST00000532405.1	+	5	635	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K	SLC24A4_ENST00000298877.1_Missense_Mutation_p.E120K|SLC24A4_ENST00000393265.2_Missense_Mutation_p.E73K|SLC24A4_ENST00000531433.1_Missense_Mutation_p.E137K|SLC24A4_ENST00000351924.5_Missense_Mutation_p.E120K			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	137					amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		CCATCTGAGCGAAGATGTGGC	0.557																																					NSCLC(10;315 435 10383 28450 38798)	ENST00000532405.1																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36						c.(409-411)Gaa>Aaa		solute carrier family 24 (sodium/potassium/calcium exchanger), member 4							93.0	84.0	87.0					14																	92908448		2203	4300	6503	SO:0001583	missense	123041					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr14:92908448G>A	AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"""Solute carriers"""	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.409G>A	14.37:g.92908448G>A	ENSP00000431840:p.Glu137Lys					SLC24A4_ENST00000531433.1_Missense_Mutation_p.E137K|SLC24A4_ENST00000351924.5_Missense_Mutation_p.E120K|SLC24A4_ENST00000393265.2_Missense_Mutation_p.E73K|SLC24A4_ENST00000298877.1_Missense_Mutation_p.E120K	p.E137K			Q8NFF2	NCKX4_HUMAN		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)	5	635	+		all_cancers(154;0.0347)|all_epithelial(191;0.163)	137					B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Missense_Mutation	SNP	ENST00000532405.1	37	c.409G>A	CCDS9903.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.071336|5.071336	0.93950|0.93950	.|.	.|.	ENSG00000140090|ENSG00000140090	ENST00000393265;ENST00000531433;ENST00000532405;ENST00000298877;ENST00000351924;ENST00000318079;ENST00000554461|ENST00000525557	T;T;T;T;T;T|.	0.63744|.	-0.06;-0.06;-0.06;-0.06;-0.06;-0.06|.	5.33|5.33	5.33|5.33	0.75918|0.75918	Sodium/calcium exchanger membrane region (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78130|0.78130	0.4235|0.4235	M|M	0.77486|0.77486	2.375|2.375	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.999;0.999|.	D;D;D|.	0.72338|.	0.977;0.962;0.97|.	T|T	0.77913|0.77913	-0.2410|-0.2410	10|5	0.48119|.	T|.	0.1|.	.|.	19.4129|19.4129	0.94683|0.94683	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	137;73;137|.	Q8NFF2-3;Q8NFF2-2;Q8NFF2|.	.;.;NCKX4_HUMAN|.	K|Q	73;137;137;120;120;28;28|21	ENSP00000376948:E73K;ENSP00000433302:E137K;ENSP00000431840:E137K;ENSP00000298877:E120K;ENSP00000337789:E120K;ENSP00000452099:E28K|.	ENSP00000298877:E120K|.	E|R	+|+	1|2	0|0	SLC24A4|SLC24A4	91978201|91978201	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.586000|0.586000	0.36452|0.36452	9.524000|9.524000	0.98036|0.98036	2.652000|2.652000	0.90054|0.90054	0.655000|0.655000	0.94253|0.94253	GAA|CGA		0.557	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395240.1	NM_153646		12	61	0	0	0	1	0	12	61				
CASKIN2	57513	broad.mit.edu	37	17	73498857	73498857	+	Silent	SNP	C	C	T			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr17:73498857C>T	ENST00000321617.3	-	18	2884	c.2298G>A	c.(2296-2298)ccG>ccA	p.P766P	CASKIN2_ENST00000433559.2_Silent_p.P684P	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	766	Pro-rich.					cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCCTGGGGCCGGGCTAGAGG	0.667																																						ENST00000321617.3																			0				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(2296-2298)ccG>ccA		CASK interacting protein 2							9.0	10.0	10.0					17																	73498857		1939	4002	5941	SO:0001819	synonymous_variant	57513					cytoplasm		g.chr17:73498857C>T	AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.2298G>A	17.37:g.73498857C>T						CASKIN2_ENST00000433559.2_Silent_p.P684P	p.P766P	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		18	2884	-	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		766			Pro-rich.		B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Silent	SNP	ENST00000321617.3	37	c.2298G>A	CCDS11723.1																																																																																				0.667	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1	NM_020753		15	28	0	0	0	1	0	15	28				
PCDH20	64881	broad.mit.edu	37	13	61986505	61986505	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr13:61986505G>T	ENST00000409186.1	-	5	3832	c.1727C>A	c.(1726-1728)cCt>cAt	p.P576H	PCDH20_ENST00000409204.4_Missense_Mutation_p.P576H			Q8N6Y1	PCD20_HUMAN	protocadherin 20	576	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TGGAGCATCAGGTCCCAGAAA	0.443																																						ENST00000409186.1																			0				breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58						c.(1726-1728)cCt>cAt		protocadherin 20							102.0	105.0	104.0					13																	61986505		2203	4300	6503	SO:0001583	missense	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61986505G>T	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.1727C>A	13.37:g.61986505G>T	ENSP00000386653:p.Pro576His					PCDH20_ENST00000409204.4_Missense_Mutation_p.P576H	p.P576H			Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	5	3832	-		Breast(118;0.195)|Prostate(109;0.229)	549			Cadherin 4.		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	c.1727C>A	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	G	14.49	2.551058	0.45383	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.68331	-0.32;-0.32	6.06	5.21	0.72293	.	0.297537	0.29307	N	0.012539	T	0.75391	0.3843	L	0.52011	1.625	0.51233	D	0.999917	D	0.62365	0.991	P	0.59115	0.852	T	0.77938	-0.2400	10	0.66056	D	0.02	.	16.7608	0.85511	0.0:0.0:0.8698:0.1302	.	576	A8K1K9	.	H	576;576;322	ENSP00000387250:P576H;ENSP00000386653:P576H	ENSP00000351500:P322H	P	-	2	0	PCDH20	60884506	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	6.189000	0.72051	1.542000	0.49330	0.650000	0.86243	CCT		0.443	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		18	102	1	0	1.99824e-07	1	2.11655e-07	18	102				
OR4D2	124538	broad.mit.edu	37	17	56247582	56247582	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr17:56247582G>A	ENST00000545221.1	+	1	566	c.566G>A	c.(565-567)tGc>tAc	p.C189Y		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	189						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						AGACTTGCCTGCACTGACACC	0.512																																						ENST00000545221.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						c.(565-567)tGc>tAc		olfactory receptor, family 4, subfamily D, member 2							176.0	147.0	157.0					17																	56247582		2203	4300	6503	SO:0001583	missense	124538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:56247582G>A		CCDS32688.1	17q22	2013-09-23			ENSG00000255713	ENSG00000255713		"""GPCR / Class A : Olfactory receptors"""	8294	protein-coding gene	gene with protein product							Standard	NM_001004707		Approved		uc010wnp.2	P58180	OTTHUMG00000178801	ENST00000545221.1:c.566G>A	17.37:g.56247582G>A	ENSP00000441354:p.Cys189Tyr						p.C189Y	NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN			1	566	+			189					Q6IFN8|Q96R75	Missense_Mutation	SNP	ENST00000545221.1	37	c.566G>A	CCDS32688.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.169390	0.78339	.	.	ENSG00000255713	ENST00000545221	T	0.00462	7.26	5.71	5.71	0.89125	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000012	T	0.04227	0.0117	H	0.99582	4.64	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	T	0.01330	-1.1383	10	0.87932	D	0	-25.9201	17.7074	0.88312	0.0:0.0:1.0:0.0	.	189	P58180	OR4D2_HUMAN	Y	189	ENSP00000441354:C189Y	ENSP00000441354:C189Y	C	+	2	0	OR4D2	53602581	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.809000	0.99208	2.860000	0.98153	0.609000	0.83330	TGC		0.512	OR4D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443366.1			4	111	0	0	0	1	0	4	111				
CROCC	9696	broad.mit.edu	37	1	17272863	17272863	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr1:17272863C>T	ENST00000375541.5	+	16	2315	c.2246C>T	c.(2245-2247)gCt>gTt	p.A749V	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GAGAGCCTTGCTCAGGACAAG	0.652																																						ENST00000375541.5																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62						c.(2245-2247)gCt>gTt		ciliary rootlet coiled-coil, rootletin							71.0	68.0	69.0					1																	17272863		2203	4300	6503	SO:0001583	missense	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17272863C>T	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.2246C>T	1.37:g.17272863C>T	ENSP00000364691:p.Ala749Val					CROCC_ENST00000467938.1_3'UTR	p.A749V	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	16	2315	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	749						Missense_Mutation	SNP	ENST00000375541.5	37	c.2246C>T	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.545876	0.65198	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.13778	2.56	4.34	4.34	0.51931	.	.	.	.	.	T	0.34948	0.0915	M	0.68593	2.085	0.53005	D	0.999966	D;P;P	0.89917	1.0;0.946;0.946	D;B;B	0.74023	0.982;0.41;0.41	T	0.02263	-1.1186	9	0.42905	T	0.14	.	16.6497	0.85186	0.0:1.0:0.0:0.0	.	612;52;749	A1L0S8;Q5TZA2-2;Q5TZA2	.;.;CROCC_HUMAN	V	749;630	ENSP00000364691:A749V	ENSP00000364691:A749V	A	+	2	0	CROCC	17145450	0.998000	0.40836	0.762000	0.31397	0.820000	0.46376	3.865000	0.56033	2.709000	0.92574	0.563000	0.77884	GCT		0.652	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		16	51	0	0	0	1	0	16	51				
CLK2	1196	broad.mit.edu	37	1	155234038	155234038	+	Silent	SNP	G	G	A			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr1:155234038G>A	ENST00000368361.4	-	11	1515	c.1200C>T	c.(1198-1200)atC>atT	p.I400I	SCAMP3_ENST00000302631.3_5'Flank|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000361168.5_Silent_p.I399I|SCAMP3_ENST00000355379.3_5'Flank|CLK2_ENST00000355560.4_Silent_p.I398I|CLK2_ENST00000536801.1_Silent_p.I400I			P49760	CLK2_HUMAN	CDC-like kinase 2	400	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of gluconeogenesis (GO:0045721)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)|response to ionizing radiation (GO:0010212)|response to retinoic acid (GO:0032526)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCCGGGAAGGGATAGGACCCA	0.458								Other conserved DNA damage response genes																														ENST00000368361.4																			0				endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22						c.(1198-1200)atC>atT	Other conserved DNA damage response genes	CDC-like kinase 2							114.0	107.0	109.0					1																	155234038		2203	4300	6503	SO:0001819	synonymous_variant	1196					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:155234038G>A	L29218	CCDS1107.1, CCDS72939.1	1q21	2008-05-02			ENSG00000176444	ENSG00000176444		"""CDC-like kinases"""	2069	protein-coding gene	gene with protein product		602989				7990150, 9856501	Standard	XM_005244876		Approved	clk2	uc001fjw.3	P49760	OTTHUMG00000035873	ENST00000368361.4:c.1200C>T	1.37:g.155234038G>A						CLK2_ENST00000536801.1_Silent_p.I400I|CLK2_ENST00000355560.4_Silent_p.I398I|CLK2_ENST00000361168.5_Silent_p.I399I|CLK2_ENST00000497188.1_5'UTR	p.I400I			P49760	CLK2_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		11	1515	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		400			Protein kinase.		B1AVS9|B5MBX6|Q96CQ0	Silent	SNP	ENST00000368361.4	37	c.1200C>T																																																																																					0.458	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000087391.1	NM_003993		14	63	0	0	0	1	0	14	63				
REV3L	5980	broad.mit.edu	37	6	111697739	111697739	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr6:111697739C>T	ENST00000358835.3	-	14	2273	c.1819G>A	c.(1819-1821)Gaa>Aaa	p.E607K	REV3L_ENST00000435970.1_Missense_Mutation_p.E529K|REV3L_ENST00000368805.1_Missense_Mutation_p.E607K|REV3L_ENST00000368802.3_Missense_Mutation_p.E607K			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	607					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AGACCTTTTTCTGTATTTTTG	0.338								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(1585-1587)Gaa>Aaa	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							68.0	72.0	71.0					6																	111697739		2201	4299	6500	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111697739C>T	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.1819G>A	6.37:g.111697739C>T	ENSP00000351697:p.Glu607Lys					REV3L_ENST00000368802.3_Missense_Mutation_p.E607K|REV3L_ENST00000358835.3_Missense_Mutation_p.E607K|REV3L_ENST00000368805.1_Missense_Mutation_p.E607K	p.E529K			O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	15	2401	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	607					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.1585G>A	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	C	14.39	2.520989	0.44866	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01527	4.9;4.9;4.9;4.8	5.52	5.52	0.82312	Ribonuclease H-like (1);	0.660669	0.14498	N	0.315941	T	0.01061	0.0035	L	0.32530	0.975	0.40869	D	0.983893	P	0.39665	0.682	B	0.32149	0.141	T	0.71048	-0.4705	10	0.41790	T	0.15	-11.1894	19.4501	0.94863	0.0:1.0:0.0:0.0	.	607	O60673	DPOLZ_HUMAN	K	607;607;607;529	ENSP00000357792:E607K;ENSP00000357795:E607K;ENSP00000351697:E607K;ENSP00000402003:E529K	ENSP00000351697:E607K	E	-	1	0	REV3L	111804432	1.000000	0.71417	0.995000	0.50966	0.948000	0.59901	3.787000	0.55439	2.603000	0.88011	0.563000	0.77884	GAA		0.338	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		17	39	0	0	0	1	0	17	39				
MYH1	4619	broad.mit.edu	37	17	10399294	10399294	+	Silent	SNP	A	A	G			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr17:10399294A>G	ENST00000226207.5	-	35	5236	c.5142T>C	c.(5140-5142)agT>agC	p.S1714S	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1714					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GAACACGCTCACTGGCATCCA	0.502																																						ENST00000226207.5																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(5140-5142)agT>agC		myosin, heavy chain 1, skeletal muscle, adult							88.0	80.0	83.0					17																	10399294		2203	4300	6503	SO:0001819	synonymous_variant	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10399294A>G		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.5142T>C	17.37:g.10399294A>G						CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.S1714S	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			35	5236	-			1714					Q14CA4|Q9Y622	Silent	SNP	ENST00000226207.5	37	c.5142T>C	CCDS11155.1																																																																																				0.502	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		21	67	0	0	0	1	0	21	67				
SLC6A3	6531	broad.mit.edu	37	5	1416304	1416304	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr5:1416304C>G	ENST00000270349.9	-	7	1067	c.940G>C	c.(940-942)Gcg>Ccg	p.A314P	SLC6A3_ENST00000453492.2_Missense_Mutation_p.A314P	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	314					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TGGGTGGCCGCGTCAATCCAA	0.627																																						ENST00000270349.9																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(940-942)Gcg>Ccg		solute carrier family 6 (neurotransmitter transporter), member 3	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)						66.0	60.0	62.0					5																	1416304		2203	4300	6503	SO:0001583	missense	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1416304C>G		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.940G>C	5.37:g.1416304C>G	ENSP00000270349:p.Ala314Pro					SLC6A3_ENST00000453492.2_Missense_Mutation_p.A314P	p.A314P	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		7	1067	-			314					A2RUN4|Q14996	Missense_Mutation	SNP	ENST00000270349.9	37	c.940G>C	CCDS3863.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.951507	0.53186	.	.	ENSG00000142319	ENST00000270349;ENST00000453492;ENST00000513308	D;D;D	0.91407	-2.84;-2.84;-2.84	3.88	3.88	0.44766	.	0.058084	0.64402	D	0.000002	D	0.97405	0.9151	H	0.99487	4.59	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.98411	1.0572	10	0.87932	D	0	.	13.7023	0.62616	0.0:1.0:0.0:0.0	.	314	Q01959	SC6A3_HUMAN	P	314;314;240	ENSP00000270349:A314P;ENSP00000399806:A314P;ENSP00000429101:A240P	ENSP00000270349:A314P	A	-	1	0	SLC6A3	1469304	1.000000	0.71417	0.026000	0.17262	0.051000	0.14879	7.015000	0.76387	1.891000	0.54761	0.561000	0.74099	GCG		0.627	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		4	50	0	0	0	1	0	4	50				
ADAM10	102	broad.mit.edu	37	15	58889782	58889782	+	Silent	SNP	G	G	A			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr15:58889782G>A	ENST00000260408.3	-	16	2654	c.2211C>T	c.(2209-2211)ccC>ccT	p.P737P	ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000402627.1_Intron|snoU13_ENST00000458913.1_RNA|ADAM10_ENST00000396140.2_Silent_p.P436P	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	737					cell death (GO:0008219)|cell-cell signaling (GO:0007267)|collagen catabolic process (GO:0030574)|constitutive protein ectodomain proteolysis (GO:0051089)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|negative regulation of cell adhesion (GO:0007162)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell chemotaxis (GO:0010820)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|tetraspanin-enriched microdomain (GO:0097197)	endopeptidase activity (GO:0004175)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		AACTCTCTCGGGGCCGCTGAC	0.473																																						ENST00000260408.3																			0				breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27						c.(2209-2211)ccC>ccT		ADAM metallopeptidase domain 10							112.0	105.0	107.0					15																	58889782		2192	4292	6484	SO:0001819	synonymous_variant	102				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding	g.chr15:58889782G>A	AF009615	CCDS10167.1	15q2	2006-09-25	2005-08-18		ENSG00000137845	ENSG00000137845		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	188	protein-coding gene	gene with protein product		602192	"""a disintegrin and metalloproteinase domain 10"""			9344679, 9441766	Standard	XM_005254117		Approved	kuz, MADM, HsT18717, CD156c	uc002afd.1	O14672	OTTHUMG00000132633	ENST00000260408.3:c.2211C>T	15.37:g.58889782G>A						ADAM10_ENST00000396140.2_Silent_p.P436P|ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000561288.1_Intron	p.P737P	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN		GBM - Glioblastoma multiforme(80;0.202)	16	2654	-			737					B4DU28|Q10742|Q92650	Silent	SNP	ENST00000260408.3	37	c.2211C>T	CCDS10167.1																																																																																				0.473	ADAM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255880.2	NM_001110		27	38	0	0	0	1	0	27	38				
FOXR2	139628	broad.mit.edu	37	X	55650774	55650774	+	Silent	SNP	C	C	T			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chrX:55650774C>T	ENST00000339140.3	+	1	942	c.630C>T	c.(628-630)caC>caT	p.H210H		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	210					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H210H(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						ACAACCCCCACTGTGGCCTCA	0.498																																						ENST00000339140.3																			1	Substitution - coding silent(1)	p.H210H(1)	endometrium(1)	biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(628-630)caC>caT		forkhead box R2							87.0	82.0	83.0					X																	55650774		2203	4300	6503	SO:0001819	synonymous_variant	139628				embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chrX:55650774C>T	BC012934	CCDS35308.1	Xp11	2006-12-15			ENSG00000189299	ENSG00000189299		"""Forkhead boxes"""	30469	protein-coding gene	gene with protein product						15202009, 15202027	Standard	NM_198451		Approved	MGC21658, FOXN6	uc004duo.3	Q6PJQ5	OTTHUMG00000021661	ENST00000339140.3:c.630C>T	X.37:g.55650774C>T							p.H210H	NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN			1	942	+			210						Silent	SNP	ENST00000339140.3	37	c.630C>T	CCDS35308.1																																																																																				0.498	FOXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056877.2	NM_198451		29	35	0	0	0	1	0	29	35				
DNAJC13	23317	broad.mit.edu	37	3	132180004	132180004	+	Silent	SNP	G	G	A			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr3:132180004G>A	ENST00000260818.6	+	15	1916	c.1668G>A	c.(1666-1668)ttG>ttA	p.L556L	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	556					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						ATATGCTCTTGGAGATGGTAG	0.423																																						ENST00000260818.6																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						c.(1666-1668)ttG>ttA		DnaJ (Hsp40) homolog, subfamily C, member 13							189.0	167.0	175.0					3																	132180004		2203	4300	6503	SO:0001819	synonymous_variant	23317						heat shock protein binding	g.chr3:132180004G>A	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.1668G>A	3.37:g.132180004G>A						DNAJC13_ENST00000486798.1_3'UTR	p.L556L	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN			15	1916	+			556					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Silent	SNP	ENST00000260818.6	37	c.1668G>A	CCDS33857.1																																																																																				0.423	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		63	136	0	0	0	1	0	63	136				
TBC1D8	11138	broad.mit.edu	37	2	101627475	101627475	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr2:101627475A>T	ENST00000376840.4	-	19	2885	c.2886T>A	c.(2884-2886)gaT>gaA	p.D962E	TBC1D8_ENST00000409318.1_Missense_Mutation_p.D977E|RPL31_ENST00000409650.1_Intron|RPL31_ENST00000409028.4_Intron|RPL31_ENST00000409038.1_Intron			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	962					blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						GTTTCTGATAATCAACTGCAT	0.353																																						ENST00000409318.1																			0				breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						c.(2929-2931)gaT>gaA		TBC1 domain family, member 8 (with GRAM domain)							169.0	158.0	162.0					2																	101627475		1842	4087	5929	SO:0001583	missense	11138				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity	g.chr2:101627475A>T	AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634			17791	protein-coding gene	gene with protein product	"""BUB2-like protein 1"", ""vascular Rab-GAP/TBC-containing protein"""					10373574	Standard	NM_001102426		Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000376840.4:c.2886T>A	2.37:g.101627475A>T	ENSP00000366036:p.Asp962Glu					RPL31_ENST00000409028.4_Intron|RPL31_ENST00000409650.1_Intron|RPL31_ENST00000409038.1_Intron|TBC1D8_ENST00000376840.4_Missense_Mutation_p.D962E	p.D977E	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN			19	3061	-			962	EKD -> KKK (in Ref. 1; BAA76517).				A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Missense_Mutation	SNP	ENST00000376840.4	37	c.2931T>A	CCDS46375.1	.	.	.	.	.	.	.	.	.	.	A	16.62	3.175161	0.57692	.	.	ENSG00000204634	ENST00000376840;ENST00000409318	T;T	0.04083	3.71;3.72	5.28	1.41	0.22369	.	2.058160	0.02275	N	0.068818	T	0.12475	0.0303	L	0.49640	1.575	0.29173	N	0.877019	P	0.52170	0.951	P	0.54431	0.752	T	0.23976	-1.0173	10	0.29301	T	0.29	-29.561	8.9139	0.35570	0.7691:0.0:0.2309:0.0	.	962	O95759	TBCD8_HUMAN	E	962;977	ENSP00000366036:D962E;ENSP00000386856:D977E	ENSP00000366036:D962E	D	-	3	2	TBC1D8	100993907	1.000000	0.71417	0.984000	0.44739	0.994000	0.84299	1.624000	0.37018	0.059000	0.16252	0.533000	0.62120	GAT		0.353	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376092.1	NM_007063		21	72	0	0	0	1	0	21	72				
PCDHA10	56139	broad.mit.edu	37	5	140236826	140236826	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr5:140236826C>A	ENST00000307360.5	+	1	1193	c.1193C>A	c.(1192-1194)tCc>tAc	p.S398Y	PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.S398Y|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	398	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.S398F(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGCTGGTGTCCACCTACAAG	0.597																																						ENST00000307360.5																			2	Substitution - Missense(2)	p.S398F(2)	large_intestine(2)	NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(1192-1194)tCc>tAc									148.0	131.0	137.0					5																	140236826		2197	4273	6470	SO:0001583	missense	56139							g.chr5:140236826C>A	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1193C>A	5.37:g.140236826C>A	ENSP00000304234:p.Ser398Tyr					PCDHA10_ENST00000506939.2_Missense_Mutation_p.S398Y|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron	p.S398Y	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1193	+								A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.1193C>A	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.927395	0.52759	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.54071	4.66;0.59	4.0	4.0	0.46444	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.77157	0.4089	M	0.91663	3.23	0.28018	N	0.934621	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.81914	0.995;0.992;0.947	T	0.71682	-0.4519	9	0.87932	D	0	.	13.3096	0.60371	0.1583:0.8417:0.0:0.0	.	398;398;398	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	Y	398	ENSP00000421030:S398Y;ENSP00000304234:S398Y	ENSP00000304234:S398Y	S	+	2	0	PCDHA10	140217010	0.000000	0.05858	1.000000	0.80357	0.889000	0.51656	-0.018000	0.12568	2.209000	0.71365	0.561000	0.74099	TCC		0.597	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		36	129	1	0	2.42023e-17	1	2.76353e-17	36	129				
TRIM27	5987	broad.mit.edu	37	6	28872268	28872268	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr6:28872268T>A	ENST00000377199.3	-	8	1477	c.1121A>T	c.(1120-1122)gAg>gTg	p.E374V	TRIM27_ENST00000377194.3_Intron	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	374	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell proliferation (GO:0008283)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|negative regulation of adaptive immune response (GO:0002820)|negative regulation of calcium ion import (GO:0090281)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						CACCTCTACCTCCCAATAATG	0.527			T	RET	papillary thyroid																																	ENST00000377199.3				Dom	yes		6	6p22	5987	T	tripartite motif-containing 27			E	RET		papillary thyroid		0				endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						c.(1120-1122)gAg>gTg		tripartite motif containing 27							81.0	79.0	80.0					6																	28872268		1511	2709	4220	SO:0001583	missense	5987				cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding	g.chr6:28872268T>A	Z58939	CCDS4654.1	6p22	2013-01-09	2011-01-25	2006-09-26	ENSG00000204713	ENSG00000204713		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9975	protein-coding gene	gene with protein product		602165	"""ret finger protein"", ""tripartite motif-containing 27"""	RFP		8114113	Standard	NM_006510		Approved	RNF76	uc003nlr.3	P14373	OTTHUMG00000031215	ENST00000377199.3:c.1121A>T	6.37:g.28872268T>A	ENSP00000366404:p.Glu374Val					TRIM27_ENST00000377194.3_Intron	p.E374V	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN			8	1477	-			374			B30.2/SPRY.		A2BE15|Q5RJA8|Q5ST26|Q6LA73|Q6NXR9|Q9BZY6|Q9UJL3	Missense_Mutation	SNP	ENST00000377199.3	37	c.1121A>T	CCDS4654.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.496664	0.85069	.	.	ENSG00000204713	ENST00000377199	T	0.78126	-1.15	4.89	4.89	0.63831	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.53938	D	0.000041	D	0.85860	0.5795	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88234	0.2905	10	0.87932	D	0	.	13.0807	0.59112	0.0:0.0:0.0:1.0	.	374	P14373	TRI27_HUMAN	V	374	ENSP00000366404:E374V	ENSP00000366404:E374V	E	-	2	0	TRIM27	28980247	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.296000	0.78790	2.131000	0.65755	0.528000	0.53228	GAG		0.527	TRIM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076442.2	NM_030950		4	72	0	0	0	1	0	4	72				
FNBP1	23048	broad.mit.edu	37	9	132658259	132658259	+	Silent	SNP	C	C	T			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr9:132658259C>T	ENST00000446176.2	-	16	1890	c.1704G>A	c.(1702-1704)acG>acA	p.T568T	FNBP1_ENST00000443566.2_Silent_p.T196T|FNBP1_ENST00000420781.1_Silent_p.T559T|FNBP1_ENST00000355681.3_Silent_p.T539T	NM_015033.2	NP_055848.1	Q96RU3	FNBP1_HUMAN	formin binding protein 1	568	Interaction with ARHGAP17, DAAM1, DIAPH1 and DIAPH2.|Interaction with DNM1 and DNM3.|Interaction with DNM2 and WASL.|Interaction with FASLG.|Interaction with PDE6G. {ECO:0000250}.|Required for interaction with TNKS.|Required for self-association and induction of membrane tubulation.|SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				endocytosis (GO:0006897)	coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)	p.T568T(1)					Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		CTACGGAAATCGTTCCTTCAT	0.443			T	MLL	AML																																	ENST00000420781.1				Dom	yes		9	9q23	23048	T	formin binding protein 1 (FBP17)			L	MLL		AML		1	Substitution - coding silent(1)	p.T568T(1)	urinary_tract(1)								c.(1675-1677)acG>acA		formin binding protein 1							115.0	107.0	109.0					9																	132658259		1962	4160	6122	SO:0001819	synonymous_variant	23048				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding	g.chr9:132658259C>T	AB011126	CCDS48040.1	9q34	2008-02-05			ENSG00000187239	ENSG00000187239			17069	protein-coding gene	gene with protein product		606191				9628581, 11438682	Standard	XM_005251815		Approved	FBP17, KIAA0554	uc004byw.1	Q96RU3	OTTHUMG00000020800	ENST00000446176.2:c.1704G>A	9.37:g.132658259C>T						FNBP1_ENST00000446176.2_Silent_p.T568T|FNBP1_ENST00000443566.2_Silent_p.T196T|FNBP1_ENST00000355681.3_Silent_p.T539T	p.T559T			Q96RU3	FNBP1_HUMAN		GBM - Glioblastoma multiforme(294;0.0378)	16	1895	-		Ovarian(14;0.000536)	568			Interaction with ARHGAP17, DAAM1, DIAPH1 and DIAPH2.|Interaction with DNM1 and DNM3.|Interaction with DNM2 and WASL.|Interaction with FASLG.|Interaction with PDE6G (By similarity).|Required for interaction with TNKS.|Required for self-association and induction of membrane tubulation.|SH3.		O60301|Q3MIN8|Q5TC87|Q5TC88|Q6P658|Q7LGG2|Q9H8H8|Q9NWD1	Silent	SNP	ENST00000446176.2	37	c.1677G>A	CCDS48040.1	.	.	.	.	.	.	.	.	.	.	C	0.989	-0.694708	0.03303	.	.	ENSG00000187239	ENST00000449089	.	.	.	5.1	-1.44	0.08856	.	.	.	.	.	T	0.38983	0.1061	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.31052	-0.9957	4	.	.	.	-40.6069	0.8439	0.01156	0.249:0.1111:0.2319:0.408	.	.	.	.	Q	520	.	.	R	-	2	0	FNBP1	131698080	1.000000	0.71417	0.784000	0.31847	0.190000	0.23558	0.841000	0.27613	0.027000	0.15297	-1.186000	0.01703	CGA		0.443	FNBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054630.2			15	43	0	0	0	1	0	15	43				
PKP2	5318	broad.mit.edu	37	12	32996151	32996151	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr12:32996151G>C	ENST00000070846.6	-	6	1499	c.1475C>G	c.(1474-1476)aCg>aGg	p.T492R	PKP2_ENST00000340811.4_Intron	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	492					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					tcctgacctcgtgatccgccc	0.547																																						ENST00000070846.6																			0				NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50						c.(1474-1476)aCg>aGg		plakophilin 2							25.0	25.0	25.0					12																	32996151		2201	4294	6495	SO:0001583	missense	5318				cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	g.chr12:32996151G>C	X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"""Armadillo repeat containing"""	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.1475C>G	12.37:g.32996151G>C	ENSP00000070846:p.Thr492Arg					PKP2_ENST00000340811.4_Intron	p.T492R	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN			6	1499	-	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		492					A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Missense_Mutation	SNP	ENST00000070846.6	37	c.1475C>G	CCDS8731.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.611020	0.00121	.	.	ENSG00000057294	ENST00000070846;ENST00000537278	T	0.49432	0.78	0.51	-0.86	0.10680	Armadillo-type fold (1);	.	.	.	.	T	0.20007	0.0481	N	0.05124	-0.11	0.09310	N	1	B	0.14438	0.01	B	0.04013	0.001	T	0.11131	-1.0600	8	0.39692	T	0.17	.	.	.	.	.	492	Q99959	PKP2_HUMAN	R	492	ENSP00000070846:T492R	ENSP00000070846:T492R	T	-	2	0	PKP2	32887418	0.004000	0.15560	0.001000	0.08648	0.001000	0.01503	-0.243000	0.08915	-1.560000	0.01686	-1.786000	0.00637	ACG		0.547	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	NM_004572		13	11	0	0	0	1	0	13	11				
PATZ1	23598	broad.mit.edu	37	22	31741062	31741062	+	Missense_Mutation	SNP	C	C	T	rs377660548		TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr22:31741062C>T	ENST00000266269.5	-	1	1156	c.527G>A	c.(526-528)cGc>cAc	p.R176H	PATZ1_ENST00000405309.3_Missense_Mutation_p.R176H|PATZ1_ENST00000215919.3_Missense_Mutation_p.R176H|AC005003.1_ENST00000504184.2_5'Flank|PATZ1_ENST00000351933.4_Missense_Mutation_p.R176H	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	176					male gonad development (GO:0008584)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						CCCAGGGGGGCGAAAGAGCAT	0.592																																						ENST00000266269.5																		EWSR1/PATZ1(2)	0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						c.(526-528)cGc>cAc		POZ (BTB) and AT hook containing zinc finger 1		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	77.0	85.0	82.0		527,527,527,527	4.1	1.0	22		82	1,8599		0,1,4299	no	missense,missense,missense,missense	PATZ1	NM_014323.2,NM_032050.1,NM_032051.1,NM_032052.1	29,29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	176/688,176/642,176/538,176/538	31741062	1,13005	2203	4300	6503	SO:0001583	missense	23598				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:31741062C>T	AL096880	CCDS13894.1, CCDS13895.1, CCDS13896.1, CCDS46691.1	22q12.2	2013-01-09	2006-09-19	2006-09-19	ENSG00000100105	ENSG00000100105		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13071	protein-coding gene	gene with protein product		605165	"""zinc finger protein 278"""	ZNF278		10591208, 18241078, 18401526	Standard	NM_014323		Approved	MAZR, dJ400N23, ZBTB19, ZSG, RIAZ, PATZ	uc003akq.3	Q9HBE1	OTTHUMG00000151254	ENST00000266269.5:c.527G>A	22.37:g.31741062C>T	ENSP00000266269:p.Arg176His					PATZ1_ENST00000351933.4_Missense_Mutation_p.R176H|PATZ1_ENST00000405309.3_Missense_Mutation_p.R176H|PATZ1_ENST00000215919.3_Missense_Mutation_p.R176H	p.R176H	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN			1	1156	-			176					Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	Missense_Mutation	SNP	ENST00000266269.5	37	c.527G>A	CCDS13894.1	.	.	.	.	.	.	.	.	.	.	C	18.88	3.717003	0.68844	0.0	1.16E-4	ENSG00000100105	ENST00000266269;ENST00000405309;ENST00000351933;ENST00000215919	T;T;T;T	0.10192	2.92;2.9;2.94;3.11	4.1	4.1	0.47936	.	0.201750	0.43919	D	0.000516	T	0.12561	0.0305	N	0.24115	0.695	0.51482	D	0.999928	B;B;D;B	0.65815	0.196;0.107;0.995;0.107	B;B;P;B	0.49502	0.03;0.009;0.613;0.009	T	0.07065	-1.0792	10	0.54805	T	0.06	-14.3472	15.6982	0.77517	0.0:1.0:0.0:0.0	.	176;176;176;176	Q9HBE1-4;Q9HBE1-3;Q9HBE1;Q9HBE1-2	.;.;PATZ1_HUMAN;.	H	176	ENSP00000266269:R176H;ENSP00000384173:R176H;ENSP00000337520:R176H;ENSP00000215919:R176H	ENSP00000215919:R176H	R	-	2	0	PATZ1	30071062	1.000000	0.71417	0.963000	0.40424	0.996000	0.88848	5.420000	0.66441	2.007000	0.58848	0.561000	0.74099	CGC		0.592	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321932.1	NM_032052		32	93	0	0	0	1	0	32	93				
PDZD2	23037	broad.mit.edu	37	5	32098724	32098724	+	Silent	SNP	C	C	T			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr5:32098724C>T	ENST00000438447.1	+	23	8590	c.8202C>T	c.(8200-8202)ccC>ccT	p.P2734P	PDZD2_ENST00000282493.3_Silent_p.P2734P			O15018	PDZD2_HUMAN	PDZ domain containing 2	2734					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AGACCATCCCCCTGGAGCCTG	0.527																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(8200-8202)ccC>ccT		PDZ domain containing 2							45.0	43.0	44.0					5																	32098724		2203	4300	6503	SO:0001819	synonymous_variant	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32098724C>T	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.8202C>T	5.37:g.32098724C>T						PDZD2_ENST00000282493.3_Silent_p.P2734P	p.P2734P			O15018	PDZD2_HUMAN			23	8590	+			2734					Q9BXD4	Silent	SNP	ENST00000438447.1	37	c.8202C>T	CCDS34137.1																																																																																				0.527	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			4	35	0	0	0	1	0	4	35				
ZNF595	152687	broad.mit.edu	37	4	59431	59431	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr4:59431A>T	ENST00000509152.2	+	2	297	c.112A>T	c.(112-114)Agg>Tgg	p.R38W	ZNF595_ENST00000339368.6_3'UTR|ZNF595_ENST00000526473.2_Missense_Mutation_p.R38W			Q8IYB9	ZN595_HUMAN	zinc finger protein 595	38	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		GGAGAACTACAGGAACCTGGT	0.433																																						ENST00000509152.2																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20						c.(112-114)Agg>Tgg		zinc finger protein 595							380.0	413.0	402.0					4																	59431		2203	4297	6500	SO:0001583	missense	152687							g.chr4:59431A>T	BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"""Zinc fingers, C2H2-type"", ""-"""	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000509152.2:c.112A>T	4.37:g.59431A>T	ENSP00000434858:p.Arg38Trp					ZNF595_ENST00000526473.2_Missense_Mutation_p.R38W|ZNF595_ENST00000339368.6_3'UTR	p.R38W						Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)	2	297	+		all_cancers(4;0.0738)|all_epithelial(65;0.139)							Missense_Mutation	SNP	ENST00000509152.2	37	c.112A>T		.	.	.	.	.	.	.	.	.	.	A	14.69	2.611305	0.46631	.	.	ENSG00000197701	ENST00000509152;ENST00000526473	T;T	0.02140	4.43;4.43	1.26	-0.566	0.11767	Krueppel-associated box (8);	.	.	.	.	T	0.07007	0.0178	.	.	.	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	T	0.34675	-0.9819	8	0.87932	D	0	.	2.1333	0.03755	0.4105:0.3333:0.2562:0.0	.	38;38	Q8IYB9;Q3SXZ3	ZN595_HUMAN;ZN718_HUMAN	W	38	ENSP00000434858:R38W;ENSP00000437878:R38W	ENSP00000434858:R38W	R	+	1	2	ZNF595	49431	0.001000	0.12720	0.634000	0.29324	0.361000	0.29550	-0.457000	0.06745	0.549000	0.28973	0.397000	0.26171	AGG		0.433	ZNF595-004	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000357817.2	NM_182524		40	808	0	0	0	1	0	40	808				
ZNF835	90485	broad.mit.edu	37	19	57175877	57175877	+	Silent	SNP	C	C	T			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr19:57175877C>T	ENST00000537055.2	-	2	921	c.690G>A	c.(688-690)gcG>gcA	p.A230A		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	230					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A252A(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GGTTGCGGAACGCCTTGGCGC	0.697																																						ENST00000537055.2																			1	Substitution - coding silent(1)	p.A252A(1)	endometrium(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						c.(688-690)gcG>gcA		zinc finger protein 835							32.0	30.0	31.0					19																	57175877		2203	4300	6503	SO:0001819	synonymous_variant	90485							g.chr19:57175877C>T	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.690G>A	19.37:g.57175877C>T							p.A230A	NM_001005850.2	NP_001005850.2					2	921	-								B7Z5Y0|G3V1S0	Silent	SNP	ENST00000537055.2	37	c.690G>A	CCDS56105.1																																																																																				0.697	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		11	30	0	0	0	1	0	11	30				
HEATR3	55027	broad.mit.edu	37	16	50102745	50102745	+	Silent	SNP	T	T	C			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr16:50102745T>C	ENST00000299192.7	+	3	557	c.366T>C	c.(364-366)gaT>gaC	p.D122D	RP11-429P3.3_ENST00000568130.2_RNA|HEATR3_ENST00000285767.4_Silent_p.D36D	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	122										cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TGACTAAGGATATCATGACCC	0.373																																						ENST00000299192.7																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(364-366)gaT>gaC		HEAT repeat containing 3							315.0	281.0	293.0					16																	50102745		2198	4300	6498	SO:0001819	synonymous_variant	55027						binding	g.chr16:50102745T>C	BC018730	CCDS10739.1	16q12.1	2008-02-05			ENSG00000155393	ENSG00000155393			26087	protein-coding gene	gene with protein product		614951				12477932	Standard	XM_005256013		Approved	FLJ20718	uc002efw.3	Q7Z4Q2	OTTHUMG00000133174	ENST00000299192.7:c.366T>C	16.37:g.50102745T>C						HEATR3_ENST00000285767.4_Silent_p.D36D	p.D122D	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN			3	557	+			122					A8K1N4|Q8N525|Q8WV56|Q96CC9|Q9NWN7	Silent	SNP	ENST00000299192.7	37	c.366T>C	CCDS10739.1																																																																																				0.373	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256880.2	NM_182922		47	182	0	0	0	1	0	47	182				
KCNH1	3756	broad.mit.edu	37	1	211093339	211093339	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr1:211093339C>T	ENST00000271751.4	-	7	1132	c.1105G>A	c.(1105-1107)Gac>Aac	p.D369N	KCNH1_ENST00000367007.4_Missense_Mutation_p.D342N			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	369					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		ATGTAGTGGTCCAGCTTACGG	0.577																																						ENST00000367007.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(1024-1026)Gac>Aac		potassium voltage-gated channel, subfamily H (eag-related), member 1							107.0	109.0	108.0					1																	211093339		2203	4300	6503	SO:0001583	missense	3756				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	g.chr1:211093339C>T	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.1105G>A	1.37:g.211093339C>T	ENSP00000271751:p.Asp369Asn					KCNH1_ENST00000271751.4_Missense_Mutation_p.D369N	p.D342N	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	7	1193	-			369					B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	37	c.1024G>A	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	C	34	5.323038	0.95708	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.98400	-4.91;-4.91	5.48	5.48	0.80851	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98845	0.9610	M	0.76170	2.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99884	1.1118	10	0.87932	D	0	.	18.3498	0.90335	0.0:1.0:0.0:0.0	.	342;369	Q14CL3;O95259	.;KCNH1_HUMAN	N	369;342	ENSP00000271751:D369N;ENSP00000355974:D342N	ENSP00000271751:D369N	D	-	1	0	KCNH1	209159962	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.538000	0.82048	2.581000	0.87130	0.655000	0.94253	GAC		0.577	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		19	75	0	0	0	1	0	19	75				
SH3D19	152503	broad.mit.edu	37	4	152065407	152065407	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr4:152065407T>C	ENST00000409252.2	-	11	1983	c.1276A>G	c.(1276-1278)Att>Gtt	p.I426V	SH3D19_ENST00000409598.4_Intron|SH3D19_ENST00000455740.1_Intron|SH3D19_ENST00000304527.4_Missense_Mutation_p.I426V|SH3D19_ENST00000424281.1_Intron|SH3D19_ENST00000514152.1_Intron|SH3D19_ENST00000427414.2_Intron			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	426	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cytoskeleton organization (GO:0007010)|membrane organization (GO:0061024)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of cell morphogenesis (GO:0022604)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TGAGAGACAATATCTTCATTG	0.368																																						ENST00000304527.4																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20						c.(1276-1278)Att>Gtt		SH3 domain containing 19							158.0	167.0	164.0					4																	152065407		2203	4300	6503	SO:0001583	missense	152503				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding	g.chr4:152065407T>C	BX647422	CCDS34077.2, CCDS47143.1, CCDS47144.1	4q31.3	2009-03-05	2009-03-05	2009-03-05	ENSG00000109686	ENSG00000109686			30418	protein-coding gene	gene with protein product	"""EEN binding protein"""	608674				12477932	Standard	NM_001009555		Approved	DKFZp434D0215, EVE1, EBP, Kryn, SH3P19	uc010ipl.1	Q5HYK7	OTTHUMG00000154051	ENST00000409252.2:c.1276A>G	4.37:g.152065407T>C	ENSP00000386848:p.Ile426Val					SH3D19_ENST00000409252.2_Missense_Mutation_p.I426V|SH3D19_ENST00000409598.4_Intron|SH3D19_ENST00000424281.1_Intron|SH3D19_ENST00000427414.2_Intron|SH3D19_ENST00000455740.1_Intron|SH3D19_ENST00000514152.1_Intron	p.I426V	NM_001009555.3	NP_001009555.3	Q5HYK7	SH319_HUMAN			12	2365	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)	426			SH3 1.		B7Z296|Q08EK1|Q32N10|Q5U3B8|Q86XB3|Q8N5E7|Q9UFC8	Missense_Mutation	SNP	ENST00000409252.2	37	c.1276A>G	CCDS34077.2	.	.	.	.	.	.	.	.	.	.	T	0.761	-0.769132	0.02974	.	.	ENSG00000109686	ENST00000304527;ENST00000409252	T;T	0.13538	2.58;2.58	5.91	1.95	0.26073	Src homology-3 domain (2);Variant SH3 (1);	1.230970	0.05982	N	0.644461	T	0.06142	0.0159	N	0.03115	-0.41	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.42032	-0.9475	10	0.22109	T	0.4	-2.8666	4.9573	0.14048	0.1386:0.3306:0.0:0.5308	.	426	Q5HYK7	SH319_HUMAN	V	426	ENSP00000302913:I426V;ENSP00000386848:I426V	ENSP00000302913:I426V	I	-	1	0	SH3D19	152284857	0.341000	0.24801	0.413000	0.26509	0.162000	0.22319	0.700000	0.25601	0.095000	0.17434	0.454000	0.30748	ATT		0.368	SH3D19-002	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335132.3	NM_001009555		30	106	0	0	0	1	0	30	106				
UHRF1BP1	54887	broad.mit.edu	37	6	34804007	34804007	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr6:34804007C>A	ENST00000192788.5	+	8	1086	c.915C>A	c.(913-915)agC>agA	p.S305R	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.S305R	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	305							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						ACAGCAACAGCAGCAGCAGCC	0.552																																						ENST00000192788.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						c.(913-915)agC>agA		UHRF1 binding protein 1							95.0	114.0	107.0					6																	34804007		2111	4251	6362	SO:0001583	missense	54887							g.chr6:34804007C>A	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.915C>A	6.37:g.34804007C>A	ENSP00000192788:p.Ser305Arg					UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.S305R	p.S305R	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN			8	1086	+			305					Q9NXE0	Missense_Mutation	SNP	ENST00000192788.5	37	c.915C>A	CCDS43455.1	.	.	.	.	.	.	.	.	.	.	C	10.66	1.413176	0.25465	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.08458	3.1;3.09	4.14	0.974	0.19715	.	0.303789	0.35495	N	0.003176	T	0.01156	0.0038	N	0.12182	0.205	0.36785	D	0.884564	P	0.35923	0.528	B	0.29785	0.107	T	0.54616	-0.8267	10	0.33940	T	0.23	-3.0045	4.2017	0.10469	0.2176:0.4771:0.0:0.3053	.	305	Q6BDS2	URFB1_HUMAN	R	305	ENSP00000192788:S305R;ENSP00000400628:S305R	ENSP00000192788:S305R	S	+	3	2	UHRF1BP1	34911985	1.000000	0.71417	0.998000	0.56505	0.942000	0.58702	1.044000	0.30329	0.363000	0.24346	0.455000	0.32223	AGC		0.552	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		84	150	1	0	6.44082e-31	1	7.56914e-31	84	150				
SNHG14	104472715	broad.mit.edu	37	15	25446507	25446507	+	RNA	SNP	G	G	C	rs201734134		TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr15:25446507G>C	ENST00000424208.1	+	0	1988				SNORD115-17_ENST00000364612.1_RNA|SNORD115-18_ENST00000363293.1_RNA|SNORD115-16_ENST00000363887.1_RNA|SNHG14_ENST00000424333.1_RNA|SNORD115-19_ENST00000363098.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		CCTGAAGAGAGGTGATGACTT	0.502																																						ENST00000424208.1																			0																				353.0	358.0	357.0					15																	25446507		876	1989	2865			104472715							g.chr15:25446507G>C			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.25446507G>C						SNHG14_ENST00000424333.1_RNA|SNORD115-17_ENST00000364612.1_RNA		NR_003305.1						0	1988	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.502	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			72	392	0	0	0	1	0	72	392				
IL4R	3566	broad.mit.edu	37	16	27353504	27353504	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr16:27353504G>T	ENST00000395762.2	+	4	392	c.133G>T	c.(133-135)Gag>Tag	p.E45*	IL4R_ENST00000380922.3_Nonsense_Mutation_p.E30*|IL4R_ENST00000449195.1_Nonsense_Mutation_p.E45*|IL4R_ENST00000543915.2_Nonsense_Mutation_p.E45*|IL4R_ENST00000170630.2_Nonsense_Mutation_p.E45*	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	45					defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CTCTACTTGCGAGTGGAAGAT	0.587																																						ENST00000395762.2																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						c.(133-135)Gag>Tag		interleukin 4 receptor							136.0	110.0	119.0					16																	27353504		2197	4300	6497	SO:0001587	stop_gained	3566				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	g.chr16:27353504G>T	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"""Interleukins and interleukin receptors"", ""CD molecules"""	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.133G>T	16.37:g.27353504G>T	ENSP00000379111:p.Glu45*					IL4R_ENST00000449195.1_Nonsense_Mutation_p.E45*|IL4R_ENST00000543915.2_Nonsense_Mutation_p.E45*|IL4R_ENST00000380922.3_Nonsense_Mutation_p.E30*|IL4R_ENST00000170630.2_Nonsense_Mutation_p.E45*	p.E45*	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN			4	392	+			45					B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Nonsense_Mutation	SNP	ENST00000395762.2	37	c.133G>T	CCDS10629.1	.	.	.	.	.	.	.	.	.	.	G	11.13	1.547801	0.27652	.	.	ENSG00000077238	ENST00000380925;ENST00000449195;ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	.	.	.	3.61	1.54	0.23209	.	0.809156	0.12003	N	0.508691	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-22.3049	9.8112	0.40824	0.0:0.4482:0.5518:0.0	.	.	.	.	X	45;45;45;45;30;45	.	ENSP00000170630:E45X	E	+	1	0	IL4R	27261005	0.918000	0.31147	0.428000	0.26697	0.020000	0.10135	0.798000	0.27014	0.463000	0.27118	0.467000	0.42956	GAG		0.587	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			29	63	1	0	3.73148e-12	1	4.20117e-12	29	63				
ACOX3	8310	broad.mit.edu	37	4	8407729	8407729	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr4:8407729C>T	ENST00000356406.5	-	7	806	c.729G>A	c.(727-729)atG>atA	p.M243I	ACOX3_ENST00000413009.2_Missense_Mutation_p.M243I|ACOX3_ENST00000503233.1_Missense_Mutation_p.M243I	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	243					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						TGTCGCCAACCATCACTCCAG	0.517																																						ENST00000356406.5																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						c.(727-729)atG>atA		acyl-CoA oxidase 3, pristanoyl							183.0	176.0	179.0					4																	8407729		2203	4300	6503	SO:0001583	missense	8310				bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity	g.chr4:8407729C>T	Y11411	CCDS3401.1, CCDS47017.1	4p15.3	2010-04-30	2010-04-30		ENSG00000087008	ENSG00000087008	1.3.3.6		121	protein-coding gene	gene with protein product		603402	"""acyl-Coenzyme A oxidase 3, pristanoyl"""			9271077	Standard	NM_003501		Approved		uc003glc.4	O15254	OTTHUMG00000090509	ENST00000356406.5:c.729G>A	4.37:g.8407729C>T	ENSP00000348775:p.Met243Ile					ACOX3_ENST00000413009.2_Missense_Mutation_p.M243I|ACOX3_ENST00000503233.1_Missense_Mutation_p.M243I	p.M243I	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN			7	806	-			243					Q96AJ8	Missense_Mutation	SNP	ENST00000356406.5	37	c.729G>A	CCDS3401.1	.	.	.	.	.	.	.	.	.	.	C	2.454	-0.325679	0.05350	.	.	ENSG00000087008	ENST00000413009;ENST00000356406;ENST00000503233	T;T;T	0.62364	0.03;0.03;0.03	4.5	3.66	0.41972	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (1);	0.335067	0.30565	N	0.009356	T	0.41534	0.1163	N	0.12746	0.255	0.44508	D	0.997452	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.11329	0.002;0.006;0.002	T	0.19451	-1.0305	10	0.22706	T	0.39	-30.4175	11.9082	0.52725	0.0:0.9121:0.0:0.0879	.	243;243;243	B2R856;O15254-2;O15254	.;.;ACOX3_HUMAN	I	243	ENSP00000413994:M243I;ENSP00000348775:M243I;ENSP00000421625:M243I	ENSP00000348775:M243I	M	-	3	0	ACOX3	8458629	1.000000	0.71417	0.996000	0.52242	0.256000	0.26092	2.336000	0.43938	1.244000	0.43870	0.467000	0.42956	ATG		0.517	ACOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206997.4			56	272	0	0	0	1	0	56	272				
SLITRK6	84189	broad.mit.edu	37	13	86368994	86368994	+	Silent	SNP	C	C	T			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr13:86368994C>T	ENST00000400286.2	-	2	2248	c.1650G>A	c.(1648-1650)ggG>ggA	p.G550G		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	550	LRRCT 2.				adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TGTCGAGATGCCCGGGGGAAG	0.463																																						ENST00000400286.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1648-1650)ggG>ggA		SLIT and NTRK-like family, member 6							94.0	94.0	94.0					13																	86368994		1941	4138	6079	SO:0001819	synonymous_variant	84189					integral to membrane		g.chr13:86368994C>T	AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.1650G>A	13.37:g.86368994C>T							p.G550G	NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN		GBM - Glioblastoma multiforme(99;0.0456)	2	2248	-	all_neural(89;0.117)|Medulloblastoma(90;0.163)		550			LRRCT 2.		A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Silent	SNP	ENST00000400286.2	37	c.1650G>A	CCDS41903.1																																																																																				0.463	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229		4	74	0	0	0	1	0	4	74				
ADIPOR1	51094	broad.mit.edu	37	1	202913030	202913030	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr1:202913030C>A	ENST00000340990.5	-	6	959	c.661G>T	c.(661-663)Gtc>Ttc	p.V221F	ADIPOR1_ENST00000367254.3_Intron|ADIPOR1_ENST00000436244.1_Missense_Mutation_p.V221F	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	221					adiponectin-activated signaling pathway (GO:0033211)|fatty acid oxidation (GO:0019395)|hormone-mediated signaling pathway (GO:0009755)|leptin-mediated signaling pathway (GO:0033210)|negative regulation of cell growth (GO:0030308)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of JAK-STAT cascade (GO:0046427)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			AGCCAGGGGACAAAGCTCCCC	0.468																																						ENST00000340990.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16						c.(661-663)Gtc>Ttc		adiponectin receptor 1							62.0	59.0	60.0					1																	202913030		2203	4300	6503	SO:0001583	missense	51094				fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity	g.chr1:202913030C>A		CCDS1430.1	1q32.1	2012-08-22			ENSG00000159346	ENSG00000159346		"""GPCR / Unclassified : Adiponectin receptors"""	24040	protein-coding gene	gene with protein product		607945				12802337	Standard	XM_006711360		Approved	PAQR1, ACDCR1	uc001gyq.5	Q96A54	OTTHUMG00000041391	ENST00000340990.5:c.661G>T	1.37:g.202913030C>A	ENSP00000341785:p.Val221Phe					ADIPOR1_ENST00000436244.1_Missense_Mutation_p.V221F|ADIPOR1_ENST00000367254.3_Intron	p.V221F	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.141)		6	959	-			221					B3KMB0|Q53HS7|Q53YY6|Q9Y360	Missense_Mutation	SNP	ENST00000340990.5	37	c.661G>T	CCDS1430.1	.	.	.	.	.	.	.	.	.	.	C	35	5.481686	0.96307	.	.	ENSG00000159346	ENST00000340990;ENST00000436244;ENST00000417068	T;T;T	0.29142	1.58;1.58;1.58	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.55673	0.1935	M	0.63169	1.94	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.43861	-0.9365	10	0.44086	T	0.13	.	19.4432	0.94831	0.0:1.0:0.0:0.0	.	221	Q96A54	ADR1_HUMAN	F	221	ENSP00000341785:V221F;ENSP00000395469:V221F;ENSP00000402178:V221F	ENSP00000341785:V221F	V	-	1	0	ADIPOR1	201179653	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.805000	0.86005	2.941000	0.99782	0.655000	0.94253	GTC		0.468	ADIPOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099160.2	NM_015999		6	27	1	0	0.0293803	1	0.029564	6	27				
COLEC11	78989	broad.mit.edu	37	2	3660936	3660936	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr2:3660936G>A	ENST00000349077.4	+	3	269	c.166G>A	c.(166-168)Gga>Aga	p.G56R	COLEC11_ENST00000402794.1_Intron|COLEC11_ENST00000382062.2_Missense_Mutation_p.G56R|COLEC11_ENST00000404205.1_Intron|COLEC11_ENST00000402922.1_Missense_Mutation_p.G30R|COLEC11_ENST00000487365.1_Intron|COLEC11_ENST00000418971.2_Missense_Mutation_p.G70R|COLEC11_ENST00000403096.3_Missense_Mutation_p.G30R|COLEC11_ENST00000236693.7_Silent_p.P26P	NM_024027.4	NP_076932.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	56					developmental process (GO:0032502)|multicellular organismal development (GO:0007275)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		AGGCGCCCCCGGACGGCCTGG	0.622																																						ENST00000403096.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22						c.(88-90)Gga>Aga		collectin sub-family member 11							25.0	27.0	27.0					2																	3660936		2189	4298	6487	SO:0001583	missense	78989					collagen	mannose binding	g.chr2:3660936G>A	BC000078	CCDS1649.1, CCDS1650.1, CCDS58689.1, CCDS58690.1, CCDS58691.1, CCDS58692.1, CCDS58693.1, CCDS58694.1	2p25.3	2014-09-17			ENSG00000118004	ENSG00000118004		"""Collectins"""	17213	protein-coding gene	gene with protein product	"""Collectin K1"""	612502					Standard	NM_024027		Approved	MGC3279, CL-K1	uc031rnn.1	Q9BWP8	OTTHUMG00000090304	ENST00000349077.4:c.166G>A	2.37:g.3660936G>A	ENSP00000339168:p.Gly56Arg					COLEC11_ENST00000236693.7_Silent_p.P26P|COLEC11_ENST00000418971.2_Missense_Mutation_p.G70R|COLEC11_ENST00000487365.1_Intron|COLEC11_ENST00000404205.1_Intron|COLEC11_ENST00000402794.1_Intron|COLEC11_ENST00000402922.1_Missense_Mutation_p.G30R|COLEC11_ENST00000382062.2_Missense_Mutation_p.G56R|COLEC11_ENST00000349077.4_Missense_Mutation_p.G56R	p.G30R	NM_001255986.1	NP_001242915.1	Q9BWP8	COL11_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.127)	2	579	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)		56					A1IGE4|A1IGE5|A1IGE6|A7VJJ2|A7VJJ3|A7VJJ4|A7VJJ5|B2R9M5|B4E1G0|J3KQY9|Q5CZ85|Q7Z6N1	Missense_Mutation	SNP	ENST00000349077.4	37	c.88G>A	CCDS1649.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.617440	0.87359	.	.	ENSG00000118004	ENST00000419002;ENST00000382062;ENST00000349077;ENST00000438814;ENST00000418971;ENST00000403096;ENST00000402922	D;D;D;D;D;D	0.99353	-5.77;-5.77;-5.77;-5.77;-5.77;-5.77	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	D	0.99399	0.9788	.	.	.	0.80722	D	1	D;D;D;D	0.89917	0.996;1.0;1.0;1.0	P;D;D;D	0.97110	0.8;0.999;1.0;1.0	D	0.98713	1.0705	9	0.87932	D	0	-7.0878	16.8007	0.85613	0.0:0.0:1.0:0.0	.	30;30;56;56	Q9BWP8-7;Q9BWP8-4;Q9BWP8-3;Q9BWP8	.;.;.;COL11_HUMAN	R	32;56;56;70;70;30;30	ENSP00000371494:G56R;ENSP00000339168:G56R;ENSP00000393167:G70R;ENSP00000411770:G70R;ENSP00000385130:G30R;ENSP00000385653:G30R	ENSP00000339168:G56R	G	+	1	0	COLEC11	3638811	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.777000	0.75028	2.243000	0.73865	0.561000	0.74099	GGA		0.622	COLEC11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206666.1	NM_024027		3	18	0	0	0	1	0	3	18				
GPR98	84059	broad.mit.edu	37	5	90106618	90106618	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr5:90106618G>C	ENST00000405460.2	+	74	15637	c.15541G>C	c.(15541-15543)Gag>Cag	p.E5181Q	GPR98_ENST00000425867.2_Missense_Mutation_p.E842Q	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5181					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CATTGTTACTGAGGCAACTGG	0.493																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(15541-15543)Gag>Cag		G protein-coupled receptor 98							139.0	136.0	137.0					5																	90106618		2040	4199	6239	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90106618G>C	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.15541G>C	5.37:g.90106618G>C	ENSP00000384582:p.Glu5181Gln					GPR98_ENST00000425867.2_Missense_Mutation_p.E842Q	p.E5181Q	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	74	15637	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	5181					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.15541G>C	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	4.963	0.178972	0.09443	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.33216	1.44;1.42	4.95	4.06	0.47325	.	0.517876	0.17710	N	0.164631	T	0.23611	0.0571	L	0.44542	1.39	0.09310	N	1	P;B;P	0.44429	0.745;0.18;0.835	B;B;B	0.38954	0.149;0.077;0.286	T	0.11842	-1.0571	9	.	.	.	.	8.5569	0.33487	0.1047:0.0:0.8953:0.0	.	842;5181;842	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	Q	5181;5181;842	ENSP00000384582:E5181Q;ENSP00000392618:E842Q	.	E	+	1	0	GPR98	90142374	0.058000	0.20735	0.017000	0.16124	0.034000	0.12701	2.814000	0.48010	2.468000	0.83385	0.563000	0.77884	GAG		0.493	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		36	30	0	0	0	1	0	36	30				
EPHA10	284656	broad.mit.edu	37	1	38185713	38185713	+	Silent	SNP	C	C	T			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr1:38185713C>T	ENST00000373048.4	-	14	2429	c.2430G>A	c.(2428-2430)gcG>gcA	p.A810A	EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000540011.1_3'UTR|EPHA10_ENST00000330210.7_Silent_p.A305A|EPHA10_ENST00000427468.2_Silent_p.A810A	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	810	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CGGCCCATAGCGCTGGGCTCC	0.632																																						ENST00000373048.4																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(2428-2430)gcG>gcA		EPH receptor A10							33.0	37.0	36.0					1																	38185713		2180	4285	6465	SO:0001819	synonymous_variant	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38185713C>T	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.2430G>A	1.37:g.38185713C>T						EPHA10_ENST00000540011.1_3'UTR|EPHA10_ENST00000330210.7_Silent_p.A305A|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Silent_p.A810A	p.A810A	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN			14	2429	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	810			Protein kinase.		A4FU89|J3KPB5|Q6NW42	Silent	SNP	ENST00000373048.4	37	c.2430G>A	CCDS41305.1																																																																																				0.632	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		9	38	0	0	0	1	0	9	38				
MAGI2	9863	broad.mit.edu	37	7	77973179	77973179	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr7:77973179C>A	ENST00000354212.4	-	9	1577	c.1324G>T	c.(1324-1326)Ggt>Tgt	p.G442C	MAGI2_ENST00000535697.1_Missense_Mutation_p.G279C|MAGI2_ENST00000536571.1_Missense_Mutation_p.G274C|MAGI2_ENST00000419488.1_Missense_Mutation_p.G442C|MAGI2_ENST00000522391.1_Missense_Mutation_p.G442C	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	442	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TCGTCTCCACCAATGATGGTA	0.488																																						ENST00000354212.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(1324-1326)Ggt>Tgt		membrane associated guanylate kinase, WW and PDZ domain containing 2							121.0	105.0	111.0					7																	77973179		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77973179C>A	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.1324G>T	7.37:g.77973179C>A	ENSP00000346151:p.Gly442Cys					MAGI2_ENST00000536571.1_Missense_Mutation_p.G274C|MAGI2_ENST00000419488.1_Missense_Mutation_p.G442C|MAGI2_ENST00000535697.1_Missense_Mutation_p.G279C|MAGI2_ENST00000522391.1_Missense_Mutation_p.G442C	p.G442C	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN			9	1577	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	442			PDZ 2.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.1324G>T	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.861569	0.91433	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391;ENST00000536571;ENST00000535697	T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38	5.81	5.81	0.92471	PDZ/DHR/GLGF (4);	0.000000	0.37261	U	0.002172	T	0.70098	0.3185	M	0.91818	3.245	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	T	0.76377	-0.2981	10	0.87932	D	0	.	19.0794	0.93175	0.0:1.0:0.0:0.0	.	279;274;442;442;442;442	F5GWH1;F5GWK7;B7Z4H4;E7EWI0;Q86UL8-2;Q86UL8	.;.;.;.;.;MAGI2_HUMAN	C	442;442;442;442;274;279	ENSP00000405766:G442C;ENSP00000346151:G442C;ENSP00000428389:G442C;ENSP00000441584:G274C;ENSP00000441603:G279C	ENSP00000346151:G442C	G	-	1	0	MAGI2	77811115	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.746000	0.94184	0.591000	0.81541	GGT		0.488	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		11	35	1	0	9.70103e-10	1	1.05531e-09	11	35				
TTC25	83538	broad.mit.edu	37	17	40091513	40091513	+	RNA	SNP	G	G	T			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr17:40091513G>T	ENST00000591658.1	+	0	226							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm (GO:0005737)				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				CTGGTTGCTCGCTCAAAGTGC	0.517																																						ENST00000591658.1																			0				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12								tetratricopeptide repeat domain 25							64.0	61.0	62.0					17																	40091513		1934	4143	6077			83538					cytoplasm	protein binding	g.chr17:40091513G>T	AK055498	CCDS74063.1	17q21.2	2014-08-12			ENSG00000204815	ENSG00000204815		"""Tetratricopeptide (TTC) repeat domain containing"""	25280	protein-coding gene	gene with protein product							Standard	XM_006722129		Approved	DKFZP434H0115	uc002hyj.4	Q96NG3	OTTHUMG00000175837		17.37:g.40091513G>T										Q96NG3	TTC25_HUMAN			0	226	+		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)						Q6NX40|Q6PJ04|Q9H0K5	RNA	SNP	ENST00000591658.1	37			.	.	.	.	.	.	.	.	.	.	G	35	5.492697	0.96339	.	.	ENSG00000204815	ENST00000377540	.	.	.	5.82	5.82	0.92795	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.88005	0.6321	M	0.90019	3.08	0.44754	D	0.997758	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.89459	0.3735	8	0.87932	D	0	-25.2736	20.1027	0.97880	0.0:0.0:1.0:0.0	.	53;53	C9JGW6;Q96NG3	.;TTC25_HUMAN	L	53	.	ENSP00000366763:R53L	R	+	2	0	AC091172.1	37345039	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.163000	0.94750	2.756000	0.94617	0.655000	0.94253	CGC		0.517	TTC25-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000449237.1	NM_031421		8	38	1	0	1.12685e-05	1	1.17807e-05	8	38				
SYT6	148281	broad.mit.edu	37	1	114680204	114680204	+	Silent	SNP	A	A	G			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr1:114680204A>G	ENST00000610222.1	-	3	1130	c.984T>C	c.(982-984)atT>atC	p.I328I	SYT6_ENST00000369547.1_Silent_p.I243I|SYT6_ENST00000393296.1_Silent_p.I328I|SYT6_ENST00000607941.1_Silent_p.I243I|SYT6_ENST00000609117.1_Silent_p.I243I			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	328	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGACCTCGCCAATCATGTCAT	0.532																																						ENST00000393296.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(982-984)atT>atC		synaptotagmin VI							95.0	90.0	92.0					1																	114680204		2203	4300	6503	SO:0001819	synonymous_variant	148281				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity	g.chr1:114680204A>G		CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"""Synaptotagmins"""	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.984T>C	1.37:g.114680204A>G						SYT6_ENST00000369547.1_Silent_p.I243I	p.I328I			Q5T7P8	SYT6_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	1061	-	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)	328			C2 1.		B1AMB8|B3KPK1	Silent	SNP	ENST00000610222.1	37	c.984T>C																																																																																					0.532	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000314819.2	NM_205848		20	32	0	0	0	1	0	20	32				
CCDC33	80125	broad.mit.edu	37	15	74536343	74536343	+	Splice_Site	SNP	G	G	A			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr15:74536343G>A	ENST00000321288.5	+	4	648		c.e4-1		CCDC33_ENST00000398814.3_Silent_p.E13E			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33											breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AAGACCCAGAGGAGCCCCTGA	0.552																																						ENST00000321288.5																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.e4-1		coiled-coil domain containing 33							70.0	77.0	74.0					15																	74536343		1889	4109	5998	SO:0001630	splice_region_variant	80125						protein binding	g.chr15:74536343G>A	BC025689	CCDS42058.1, CCDS42059.1, CCDS73753.1	15q24.1	2009-08-06				ENSG00000140481			26552	protein-coding gene	gene with protein product	"""cancer/testis antigen 61"""					12477932	Standard	NM_025055		Approved	FLJ32855, CT61	uc002axo.4	Q8N5R6		ENST00000321288.5:c.649-1G>A	15.37:g.74536343G>A						CCDC33_ENST00000398814.3_Silent_p.E13E				Q8N5R6	CCD33_HUMAN			4	648	+								A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Splice_Site	SNP	ENST00000321288.5	37			.	.	.	.	.	.	.	.	.	.	G	9.557	1.117540	0.20877	.	.	ENSG00000140481	ENST00000321288	.	.	.	4.45	2.56	0.30785	.	.	.	.	.	.	.	.	.	.	.	0.38358	D	0.944524	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.222	0.25992	0.2093:0.0:0.7907:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC33	72323396	0.050000	0.20438	0.034000	0.17996	0.110000	0.19582	0.389000	0.20751	0.449000	0.26747	0.561000	0.74099	.		0.552	CCDC33-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_182791	Intron	32	122	0	0	0	1	0	32	122				
MLEC	9761	broad.mit.edu	37	12	121125273	121125273	+	Silent	SNP	G	G	T			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr12:121125273G>T	ENST00000228506.3	+	1	602	c.174G>T	c.(172-174)gcG>gcT	p.A58A	MLEC_ENST00000412616.2_Silent_p.A58A	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	58					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|enzyme binding (GO:0019899)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						GTGGAGAGGCGCATGTGGACG	0.746																																						ENST00000228506.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						c.(172-174)gcG>gcT		malectin							22.0	26.0	25.0					12																	121125273		2200	4297	6497	SO:0001819	synonymous_variant	9761				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding	g.chr12:121125273G>T	BC000371	CCDS9206.1	12q24.31	2013-03-06	2008-11-05	2008-11-05	ENSG00000110917	ENSG00000110917			28973	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	613802	"""KIAA0152"""	KIAA0152		18524852	Standard	NM_014730		Approved		uc001tyy.1	Q14165	OTTHUMG00000169187	ENST00000228506.3:c.174G>T	12.37:g.121125273G>T						MLEC_ENST00000412616.2_Silent_p.A58A	p.A58A	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN			1	602	+			58						Silent	SNP	ENST00000228506.3	37	c.174G>T	CCDS9206.1																																																																																				0.746	MLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402781.2	NM_014730		19	16	1	0	3.51602e-12	1	3.98647e-12	19	16				
BTAF1	9044	broad.mit.edu	37	10	93744029	93744029	+	Silent	SNP	C	C	T	rs555158599	byFrequency	TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr10:93744029C>T	ENST00000265990.6	+	19	2603	c.2295C>T	c.(2293-2295)gaC>gaT	p.D765D	BTAF1_ENST00000471217.1_3'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	765					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TATATTATGACGAAATTGCCG	0.348													C|||	3	0.000599042	0.0	0.0	5008	,	,		19559	0.0		0.0	False		,,,				2504	0.0031					ENST00000265990.6																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59						c.(2293-2295)gaC>gaT		BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa							103.0	93.0	97.0					10																	93744029		2201	4300	6501	SO:0001819	synonymous_variant	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93744029C>T	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.2295C>T	10.37:g.93744029C>T						BTAF1_ENST00000471217.1_3'UTR	p.D765D	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN			19	2603	+		Colorectal(252;0.0846)	765					B4E0W6|O43578	Silent	SNP	ENST00000265990.6	37	c.2295C>T	CCDS7419.1																																																																																				0.348	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972		18	45	0	0	0	1	0	18	45				
SLC32A1	140679	broad.mit.edu	37	20	37357241	37357241	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr20:37357241G>A	ENST00000217420.1	+	2	1800	c.1537G>A	c.(1537-1539)Gag>Aag	p.E513K		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	513					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	GCACTCCCTCGAGGGCCTCAT	0.667																																						ENST00000217420.1																			0				breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38						c.(1537-1539)Gag>Aag		solute carrier family 32 (GABA vesicular transporter), member 1	Glycine(DB00145)						17.0	16.0	16.0					20																	37357241		2198	4296	6494	SO:0001583	missense	140679				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity	g.chr20:37357241G>A	AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"""Solute carriers"""	11018	protein-coding gene	gene with protein product			"""vesicular inhibitory amino acid transporter"""	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.1537G>A	20.37:g.37357241G>A	ENSP00000217420:p.Glu513Lys						p.E513K	NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN			2	1800	+		Myeloproliferative disorder(115;0.00878)	513					Q8N489	Missense_Mutation	SNP	ENST00000217420.1	37	c.1537G>A	CCDS13307.1	.	.	.	.	.	.	.	.	.	.	G	12.37	1.918506	0.33908	.	.	ENSG00000101438	ENST00000217420	T	0.06294	3.32	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.02929	0.0087	N	0.03050	-0.425	0.80722	D	1	B	0.23806	0.091	B	0.23275	0.045	T	0.37842	-0.9688	10	0.05959	T	0.93	-21.2534	16.0232	0.80516	0.0:0.0:1.0:0.0	.	513	Q9H598	VIAAT_HUMAN	K	513	ENSP00000217420:E513K	ENSP00000217420:E513K	E	+	1	0	SLC32A1	36790655	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.725000	0.84808	2.455000	0.83008	0.655000	0.94253	GAG		0.667	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079206.1	NM_080552		5	30	0	0	0	1	0	5	30				
LRP2	4036	broad.mit.edu	37	2	170066058	170066058	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr2:170066058C>T	ENST00000263816.3	-	38	6659	c.6374G>A	c.(6373-6375)cGt>cAt	p.R2125H		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2125					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TTTAATTCTACGGATCGCATT	0.453																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(6373-6375)cGt>cAt		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						139.0	130.0	133.0					2																	170066058		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170066058C>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.6374G>A	2.37:g.170066058C>T	ENSP00000263816:p.Arg2125His						p.R2125H	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	38	6659	-			2125					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.6374G>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.410801	0.62399	.	.	ENSG00000081479	ENST00000263816	D	0.91237	-2.81	6.03	4.24	0.50183	Six-bladed beta-propeller, TolB-like (1);	0.046436	0.85682	N	0.000000	D	0.94026	0.8086	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.91857	0.5496	10	0.15499	T	0.54	.	12.6482	0.56746	0.0:0.8672:0.0:0.1328	.	2125	P98164	LRP2_HUMAN	H	2125	ENSP00000263816:R2125H	ENSP00000263816:R2125H	R	-	2	0	LRP2	169774304	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	3.324000	0.52022	0.877000	0.35895	0.655000	0.94253	CGT		0.453	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		18	84	0	0	0	1	0	18	84				
CEACAM16	388551	broad.mit.edu	37	19	45206848	45206848	+	Silent	SNP	C	C	T			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr19:45206848C>T	ENST00000405314.2	+	2	364	c.267C>T	c.(265-267)ccC>ccT	p.P89P	CEACAM16_ENST00000587331.1_Silent_p.P89P|CTB-171A8.1_ENST00000590796.1_RNA			Q2WEN9	CEA16_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	89					sensory perception of sound (GO:0007605)	extracellular region (GO:0005576)|stereocilium bundle tip (GO:0032426)				endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				CTGTGCGCCCCGATGGCAGCC	0.662																																						ENST00000587331.1																			0				endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9						c.(265-267)ccC>ccT		carcinoembryonic antigen-related cell adhesion molecule 16							13.0	16.0	15.0					19																	45206848		2057	4168	6225	SO:0001819	synonymous_variant	388551							g.chr19:45206848C>T		CCDS54278.1	19q13.31	2014-01-27			ENSG00000213892	ENSG00000213892		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31948	protein-coding gene	gene with protein product		614591				21368133	Standard	NM_001039213		Approved	DFNA4B	uc010xxd.2	Q2WEN9	OTTHUMG00000151519	ENST00000405314.2:c.267C>T	19.37:g.45206848C>T						CEACAM16_ENST00000405314.2_Silent_p.P89P|CTB-171A8.1_ENST00000590796.1_RNA	p.P89P	NM_001039213.2	NP_001034302.2	A7LI12	A7LI12_HUMAN			3	482	+	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)	89					A7LI12	Silent	SNP	ENST00000405314.2	37	c.267C>T	CCDS54278.1																																																																																				0.662	CEACAM16-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		XM_371177		25	12	0	0	0	1	0	25	12				
FAM107B	83641	broad.mit.edu	37	10	14563887	14563887	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr10:14563887C>T	ENST00000378470.1	-	3	546	c.260G>A	c.(259-261)cGg>cAg	p.R87Q	FAM107B_ENST00000378458.2_Missense_Mutation_p.R87Q|FAM107B_ENST00000468747.1_Missense_Mutation_p.R87Q|FAM107B_ENST00000378465.3_Missense_Mutation_p.R87Q|FAM107B_ENST00000479731.1_Missense_Mutation_p.R87Q|FAM107B_ENST00000378467.4_Missense_Mutation_p.R87Q|FAM107B_ENST00000478076.1_Missense_Mutation_p.R87Q|FAM107B_ENST00000378462.1_Missense_Mutation_p.R87Q|FAM107B_ENST00000181796.2_Missense_Mutation_p.R262Q|FAM107B_ENST00000496330.1_Missense_Mutation_p.R87Q	NM_001282695.1|NM_001282696.1|NM_001282697.1|NM_001282698.1|NM_001282700.1|NM_001282701.1|NM_001282702.1|NM_001282703.1	NP_001269624.1|NP_001269625.1|NP_001269626.1|NP_001269627.1|NP_001269629.1|NP_001269630.1|NP_001269631.1|NP_001269632.1	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	87					sensory perception of sound (GO:0007605)					breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CTTCTGCTGCCGTTTTAATAG	0.423																																						ENST00000181796.2																			0				breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(784-786)cGg>cAg		family with sequence similarity 107, member B							213.0	201.0	205.0					10																	14563887		2203	4300	6503	SO:0001583	missense	83641							g.chr10:14563887C>T	AK127413	CCDS7102.1, CCDS60486.1	10p14	2006-01-17	2006-01-17	2005-11-20	ENSG00000065809	ENSG00000065809			23726	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 45"""	C10orf45		11230166	Standard	XM_005252616		Approved	FLJ45505, MGC11034	uc001ina.1	Q9H098	OTTHUMG00000017709	ENST00000378470.1:c.260G>A	10.37:g.14563887C>T	ENSP00000367731:p.Arg87Gln					FAM107B_ENST00000378470.1_Missense_Mutation_p.R87Q|FAM107B_ENST00000378467.4_Missense_Mutation_p.R87Q|FAM107B_ENST00000496330.1_Missense_Mutation_p.R87Q|FAM107B_ENST00000468747.1_Missense_Mutation_p.R87Q|FAM107B_ENST00000378462.1_Missense_Mutation_p.R87Q|FAM107B_ENST00000378458.2_Missense_Mutation_p.R87Q|FAM107B_ENST00000478076.1_Missense_Mutation_p.R87Q|FAM107B_ENST00000378465.3_Missense_Mutation_p.R87Q|FAM107B_ENST00000479731.1_Missense_Mutation_p.R87Q	p.R262Q	NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN			4	1018	-			87					A8K1P4|D3DRT2|Q5T9K7|Q5T9K8|Q6ZSI4	Missense_Mutation	SNP	ENST00000378470.1	37	c.785G>A		.	.	.	.	.	.	.	.	.	.	C	27.5	4.841502	0.91197	.	.	ENSG00000065809	ENST00000378470;ENST00000181796;ENST00000468747;ENST00000378467;ENST00000378465;ENST00000378458;ENST00000478076;ENST00000378462;ENST00000378461;ENST00000496330;ENST00000479731;ENST00000468492;ENST00000452706;ENST00000489100;ENST00000494865;ENST00000475786;ENST00000488576;ENST00000442012	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48	5.79	4.89	0.63831	.	0.100559	0.64402	N	0.000003	T	0.70544	0.3236	M	0.71036	2.16	0.53688	D	0.999971	P;D	0.71674	0.861;0.998	B;D	0.76575	0.173;0.988	T	0.74272	-0.3719	10	0.72032	D	0.01	-22.1182	13.8513	0.63499	0.0:0.9271:0.0:0.0729	.	262;87	Q9H098-2;Q9H098	.;F107B_HUMAN	Q	87;262;87;87;87;87;87;87;87;87;87;87;87;87;87;87;87;87	ENSP00000367731:R87Q;ENSP00000181796:R262Q;ENSP00000418120:R87Q;ENSP00000367728:R87Q;ENSP00000367726:R87Q;ENSP00000367719:R87Q;ENSP00000417782:R87Q;ENSP00000367723:R87Q;ENSP00000418330:R87Q;ENSP00000419603:R87Q;ENSP00000420444:R87Q;ENSP00000413676:R87Q;ENSP00000420249:R87Q;ENSP00000418395:R87Q;ENSP00000417242:R87Q;ENSP00000420314:R87Q;ENSP00000397949:R87Q	ENSP00000181796:R262Q	R	-	2	0	FAM107B	14603893	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	1.457000	0.47850	0.655000	0.94253	CGG		0.423	FAM107B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046899.1	NM_031453		20	98	0	0	0	1	0	20	98				
LY6G6C	80740	broad.mit.edu	37	6	31691724	31691724	+	5'Flank	SNP	G	G	C			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr6:31691724G>C	ENST00000375819.2	-	0	0				LY6G6C_ENST00000495859.1_5'Flank|C6orf25_ENST00000375810.4_Missense_Mutation_p.G124R|C6orf25_ENST00000480039.1_Missense_Mutation_p.G124R|C6orf25_ENST00000375809.3_Missense_Mutation_p.G124R|C6orf25_ENST00000375805.2_Missense_Mutation_p.G124R	NM_025261.2	NP_079537.1	O95867	LY66C_HUMAN	lymphocyte antigen 6 complex, locus G6C							anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|large_intestine(1)|lung(1)|skin(1)	4						TCACGTGCTGGGGGACAGGAC	0.632																																						ENST00000375809.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						c.(370-372)Ggg>Cgg		chromosome 6 open reading frame 25							56.0	64.0	61.0					6																	31691724		2193	4288	6481	SO:0001631	upstream_gene_variant	80739					endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity	g.chr6:31691724G>C		CCDS4714.1	6p21	2008-08-29	2002-07-29	2002-08-01	ENSG00000204421	ENSG00000204421			13936	protein-coding gene	gene with protein product		610435	"""chromosome 6 open reading frame 24"""	C6orf24		10384126, 12079290	Standard	NM_025261		Approved	G6c, NG24	uc003nwh.3	O95867	OTTHUMG00000031251		6.37:g.31691724G>C	Exception_encountered					C6orf25_ENST00000480039.1_Missense_Mutation_p.G124R|C6orf25_ENST00000375810.4_Missense_Mutation_p.G124R|C6orf25_ENST00000375805.2_Missense_Mutation_p.G124R	p.G124R	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	O95866	G6B_HUMAN			2	381	+			124					Q5SRS8|Q8IY94	Missense_Mutation	SNP	ENST00000375819.2	37	c.370G>C	CCDS4714.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.201206	0.79015	.	.	ENSG00000204420	ENST00000480039;ENST00000375810;ENST00000375805;ENST00000375809;ENST00000375804;ENST00000375814;ENST00000375806	T;T;T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01	5.03	4.15	0.48705	.	0.115995	0.39146	N	0.001445	T	0.60508	0.2274	L	0.36672	1.1	0.37030	D	0.896614	D;D;D;D;D;D	0.89917	1.0;0.979;0.979;0.996;0.996;0.996	D;P;P;D;P;D	0.91635	0.999;0.811;0.811;0.912;0.88;0.912	T	0.67780	-0.5582	10	0.87932	D	0	-10.8251	11.2752	0.49163	0.0:0.184:0.816:0.0	.	124;124;124;124;124;124	O95866-3;O95866-5;O95866;O95866-4;O95866-7;B0V023	.;.;G6B_HUMAN;.;.;.	R	124	ENSP00000419306:G124R;ENSP00000364968:G124R;ENSP00000364963:G124R;ENSP00000364967:G124R;ENSP00000364962:G124R;ENSP00000364972:G124R;ENSP00000364964:G124R	ENSP00000364962:G124R	G	+	1	0	C6orf25	31799703	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	4.704000	0.61831	1.329000	0.45376	0.491000	0.48974	GGG		0.632	LY6G6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076530.2			21	141	0	0	0	1	0	21	141				
CAPZA3	93661	broad.mit.edu	37	12	18891831	18891831	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr12:18891831A>G	ENST00000317658.3	+	1	787	c.629A>G	c.(628-630)aAa>aGa	p.K210R	RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000435379.1_5'Flank|PLCZ1_ENST00000447925.2_5'Flank|PLCZ1_ENST00000266505.7_5'Flank|PLCZ1_ENST00000539875.1_5'Flank	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	210					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cortical cytoskeleton (GO:0030863)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|nucleus (GO:0005634)|WASH complex (GO:0071203)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				AAGGACCTGAAAGAAAGCTTG	0.403																																						ENST00000317658.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19						c.(628-630)aAa>aGa		capping protein (actin filament) muscle Z-line, alpha 3							66.0	67.0	67.0					12																	18891831		2203	4300	6503	SO:0001583	missense	93661				actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding	g.chr12:18891831A>G	AB053259	CCDS8681.1	12p12.3	2008-02-05			ENSG00000177938	ENSG00000177938			24205	protein-coding gene	gene with protein product		608722				12029070	Standard	NM_033328		Approved	Gsg3, CAPPA3	uc001rdy.3	Q96KX2	OTTHUMG00000169001	ENST00000317658.3:c.629A>G	12.37:g.18891831A>G	ENSP00000326238:p.Lys210Arg						p.K210R	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN			1	787	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)	210					Q969J0	Missense_Mutation	SNP	ENST00000317658.3	37	c.629A>G	CCDS8681.1	.	.	.	.	.	.	.	.	.	.	A	10.35	1.327145	0.24080	.	.	ENSG00000177938	ENST00000317658	.	.	.	4.8	4.8	0.61643	.	0.612568	0.15989	N	0.234931	T	0.28928	0.0718	L	0.28344	0.845	0.33082	D	0.536762	P	0.39862	0.692	B	0.39465	0.3	T	0.36529	-0.9744	9	0.33940	T	0.23	-22.95	7.0772	0.25211	0.9007:0.0:0.0993:0.0	.	210	Q96KX2	CAZA3_HUMAN	R	210	.	ENSP00000326238:K210R	K	+	2	0	CAPZA3	18783098	0.992000	0.36948	0.999000	0.59377	0.980000	0.70556	2.114000	0.41911	2.021000	0.59480	0.379000	0.24179	AAA		0.403	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401902.1	NM_033328		17	80	0	0	0	1	0	17	80				
CASP10	843	broad.mit.edu	37	2	202082352	202082352	+	Intron	SNP	A	A	T			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr2:202082352A>T	ENST00000272879.5	+	9	1599				CASP10_ENST00000448480.1_Intron|CASP10_ENST00000346817.5_Missense_Mutation_p.D443V|CASP10_ENST00000360132.3_3'UTR|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000286186.6_Missense_Mutation_p.D486V|CASP10_ENST00000313728.7_Missense_Mutation_p.D419V	NM_032974.4	NP_116756.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase						apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|innate immune response (GO:0045087)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|death effector domain binding (GO:0035877)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						GTCAACGATGATGTGAGTCGA	0.448																																						ENST00000286186.6																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						c.(1456-1458)gAt>gTt		caspase 10, apoptosis-related cysteine peptidase							126.0	111.0	116.0					2																	202082352		2203	4300	6503	SO:0001627	intron_variant	843				apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding	g.chr2:202082352A>T	U60519	CCDS2338.1, CCDS2339.1, CCDS2340.1, CCDS56159.1, CCDS56160.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000003400	ENSG00000003400	3.4.22.63	"""Caspases"""	1500	protein-coding gene	gene with protein product		601762	"""caspase 10, apoptosis-related cysteine protease"""			8755496	Standard	NM_032974		Approved	MCH4	uc002uxj.1	Q92851	OTTHUMG00000132818	ENST00000272879.5:c.1415+8067A>T	2.37:g.202082352A>T						CASP10_ENST00000360132.3_3'UTR|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000448480.1_Intron|CASP10_ENST00000313728.7_Missense_Mutation_p.D419V|CASP10_ENST00000346817.5_Missense_Mutation_p.D443V|CASP10_ENST00000272879.5_Intron	p.D486V	NM_032977.3	NP_116759.2	Q92851	CASPA_HUMAN			10	1892	+			0					Q68HC0|Q6KF62|Q6KF63|Q8IUP5|Q8WYQ8|Q99845|Q9Y2U6|Q9Y2U7	Missense_Mutation	SNP	ENST00000272879.5	37	c.1457A>T	CCDS2338.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.964422	0.74131	.	.	ENSG00000003400	ENST00000286186;ENST00000346817;ENST00000313728	T;T;T	0.21361	2.01;2.01;2.01	5.3	4.1	0.47936	.	0.179226	0.51477	D	0.000085	T	0.40886	0.1135	.	.	.	0.80722	D	1	P;D;D	0.89917	0.875;1.0;1.0	P;D;D	0.87578	0.8;0.998;0.998	T	0.13229	-1.0517	9	0.30854	T	0.27	.	11.5901	0.50941	0.8669:0.0:0.0:0.1331	.	419;443;486	Q92851-6;Q92851-2;Q92851-4	.;.;.	V	486;443;419	ENSP00000286186:D486V;ENSP00000237865:D443V;ENSP00000314599:D419V	ENSP00000286186:D486V	D	+	2	0	CASP10	201790597	1.000000	0.71417	0.961000	0.40146	0.880000	0.50808	6.862000	0.75484	2.001000	0.58596	0.533000	0.62120	GAT		0.448	CASP10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256273.1	NM_032977		20	90	0	0	0	1	0	20	90				
FSD2	123722	broad.mit.edu	37	15	83451772	83451772	+	Silent	SNP	A	A	G			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr15:83451772A>G	ENST00000334574.8	-	4	922	c.741T>C	c.(739-741)aaT>aaC	p.N247N	FSD2_ENST00000541889.1_Silent_p.N247N			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	247										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						GTTTTCCAAAATTCTCCTGCA	0.338																																						ENST00000334574.8																			0				breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						c.(739-741)aaT>aaC		fibronectin type III and SPRY domain containing 2							88.0	90.0	89.0					15																	83451772		1870	4100	5970	SO:0001819	synonymous_variant	123722							g.chr15:83451772A>G	AK122875	CCDS45332.1, CCDS61738.1	15q25.2	2013-02-11	2006-01-11	2006-01-11		ENSG00000186628		"""Fibronectin type III domain containing"""	18024	protein-coding gene	gene with protein product			"""SPRY domain containing 1"""	SPRYD1			Standard	NM_001007122		Approved	RP11-127F21	uc002bjd.2	A1L4K1		ENST00000334574.8:c.741T>C	15.37:g.83451772A>G						FSD2_ENST00000541889.1_Silent_p.N247N	p.N247N			A1L4K1	FSD2_HUMAN			4	922	-			247					B3KVG1|B7ZM02	Silent	SNP	ENST00000334574.8	37	c.741T>C	CCDS45332.1																																																																																				0.338	FSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418385.1	NM_001007122		107	47	0	0	0	1	0	107	47				
GRM3	2913	broad.mit.edu	37	7	86493656	86493656	+	Silent	SNP	C	C	G			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr7:86493656C>G	ENST00000361669.2	+	6	3724	c.2625C>G	c.(2623-2625)acC>acG	p.T875T	GRM3_ENST00000546348.1_Silent_p.T467T|GRM3_ENST00000536043.1_Silent_p.T747T|GRM3_ENST00000394720.2_Missense_Mutation_p.H518D|GRM3_ENST00000439827.1_Missense_Mutation_p.H520D	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	875					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					TCGACTCCACCACCTCATCTC	0.463																																					GBM(52;969 1098 3139 52280)	ENST00000394720.2																			0				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(1552-1554)Cac>Gac		glutamate receptor, metabotropic 3	Acamprosate(DB00659)|Nicotine(DB00184)						274.0	223.0	240.0					7																	86493656		2203	4300	6503	SO:0001819	synonymous_variant	2913				synaptic transmission	integral to plasma membrane		g.chr7:86493656C>G		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.2625C>G	7.37:g.86493656C>G						GRM3_ENST00000536043.1_Silent_p.T747T|GRM3_ENST00000439827.1_Missense_Mutation_p.H520D|GRM3_ENST00000546348.1_Silent_p.T467T|GRM3_ENST00000361669.2_Silent_p.T875T	p.H518D			Q14832	GRM3_HUMAN			5	1729	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		0					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.1552C>G	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.789548	0.70337	.	.	ENSG00000198822	ENST00000439827;ENST00000394720	D;D	0.87966	-2.32;-2.32	5.99	5.99	0.97316	.	.	.	.	.	D	0.93792	0.8015	.	.	.	0.32169	N	0.58195	D	0.61080	0.989	D	0.72625	0.978	D	0.93895	0.7183	8	0.87932	D	0	.	19.4659	0.94939	0.0:1.0:0.0:0.0	.	520	G5E9K2	.	D	520;518	ENSP00000398767:H520D;ENSP00000378209:H518D	ENSP00000378209:H518D	H	+	1	0	GRM3	86331592	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.951000	0.56684	2.840000	0.97914	0.655000	0.94253	CAC		0.463	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			35	83	0	0	0	1	0	35	83				
KAT2A	2648	broad.mit.edu	37	17	40272335	40272335	+	Silent	SNP	G	G	A			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr17:40272335G>A	ENST00000225916.5	-	3	570	c.517C>T	c.(517-519)Ctg>Ttg	p.L173L	HSPB9_ENST00000355067.3_5'Flank|CTD-2132N18.3_ENST00000592574.1_Silent_p.L207L	NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	173					cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|histone H3-K14 acetylation (GO:0044154)|in utero embryonic development (GO:0001701)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|positive regulation of gluconeogenesis (GO:0045722)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somitogenesis (GO:0001756)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|extracellular space (GO:0005615)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	chromatin binding (GO:0003682)|H3 histone acetyltransferase activity (GO:0010484)|histone acetyltransferase activity (GO:0004402)|histone acetyltransferase activity (H4-K12 specific) (GO:0043997)|histone deacetylase binding (GO:0042826)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						ACCATCCCCAGCAGTCGGTTT	0.458																																						ENST00000225916.5																			0				central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(517-519)Ctg>Ttg		K(lysine) acetyltransferase 2A							132.0	117.0	122.0					17																	40272335		2203	4300	6503	SO:0001819	synonymous_variant	2648				chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity	g.chr17:40272335G>A	AF029777	CCDS11417.1	17q12-q21	2011-07-01	2008-07-04	2008-07-04	ENSG00000108773	ENSG00000108773		"""Chromatin-modifying enzymes / K-acetyltransferases"""	4201	protein-coding gene	gene with protein product		602301	"""GCN5 general control of amino-acid synthesis 5-like 2 (yeast)"""	GCN5L2		8552087	Standard	NM_021078		Approved	GCN5, PCAF-b	uc002hyx.2	Q92830	OTTHUMG00000133504	ENST00000225916.5:c.517C>T	17.37:g.40272335G>A						CTD-2132N18.3_ENST00000592574.1_Silent_p.L207L	p.L173L	NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN			3	570	-			173					Q8N1A2|Q9UCW1	Silent	SNP	ENST00000225916.5	37	c.517C>T	CCDS11417.1																																																																																				0.458	KAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257458.1	NM_021078		21	60	0	0	0	1	0	21	60				
BEND7	222389	broad.mit.edu	37	10	13522936	13522936	+	Silent	SNP	C	C	T			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr10:13522936C>T	ENST00000396900.2	-	6	1025	c.1026G>A	c.(1024-1026)cgG>cgA	p.R342R	BEND7_ENST00000396898.2_Silent_p.R355R|BEND7_ENST00000378605.3_Silent_p.R303R|BEND7_ENST00000341083.3_Silent_p.R290R			Q8N7W2	BEND7_HUMAN	BEN domain containing 7	342	BEN. {ECO:0000255|PROSITE- ProRule:PRU00784}.					extracellular vesicular exosome (GO:0070062)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						CTAGTCCTTTCCGGTTGTCAT	0.423																																						ENST00000341083.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						c.(868-870)cgG>cgA		BEN domain containing 7							182.0	170.0	174.0					10																	13522936		2203	4300	6503	SO:0001819	synonymous_variant	222389						protein binding	g.chr10:13522936C>T	BC031618	CCDS7099.1, CCDS41490.1	10p14	2012-11-22	2008-10-03	2008-10-03	ENSG00000165626	ENSG00000165626		"""BEN domain containing"""	23514	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 30"""	C10orf30			Standard	NM_152751		Approved	FLJ40283	uc001imm.2	Q8N7W2	OTTHUMG00000017699	ENST00000396900.2:c.1026G>A	10.37:g.13522936C>T						BEND7_ENST00000396900.2_Silent_p.R342R|BEND7_ENST00000378605.3_Silent_p.R303R|BEND7_ENST00000396898.2_Silent_p.R355R	p.R290R	NM_152751.2	NP_689964.2	Q8N7W2	BEND7_HUMAN			6	1166	-			342			BEN.		Q5SYY7|Q5SYY8|Q5SYY9|Q8N5T7	Silent	SNP	ENST00000396900.2	37	c.870G>A																																																																																					0.423	BEND7-202	KNOWN	basic	protein_coding	protein_coding		NM_152751		25	109	0	0	0	1	0	25	109				
COX5A	9377	broad.mit.edu	37	15	75219166	75219166	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr15:75219166G>A	ENST00000322347.6	-	3	433	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W	COX5A_ENST00000568783.1_Missense_Mutation_p.R94W|COX5A_ENST00000567270.1_Missense_Mutation_p.R55W|COX5A_ENST00000568517.1_Missense_Mutation_p.R13W|COX5A_ENST00000564811.1_Missense_Mutation_p.R94W|COX5A_ENST00000562233.1_Intron	NM_004255.3	NP_004246.2	P20674	COX5A_HUMAN	cytochrome c oxidase subunit Va	94					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)	cytochrome-c oxidase activity (GO:0004129)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|pancreas(1)	3						CTGCATGCCCGCAAAGCAGCA	0.388																																						ENST00000322347.6																			0				endometrium(1)|large_intestine(1)|pancreas(1)	3						c.(280-282)Cgg>Tgg		cytochrome c oxidase subunit Va							96.0	92.0	93.0					15																	75219166		2197	4295	6492	SO:0001583	missense	9377				respiratory electron transport chain	mitochondrial inner membrane	cytochrome-c oxidase activity|electron carrier activity|metal ion binding	g.chr15:75219166G>A	M22760	CCDS10273.1	15q25	2011-07-04			ENSG00000178741	ENSG00000178741	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2267	protein-coding gene	gene with protein product		603773				10072584, 2853101	Standard	NM_004255		Approved		uc002azi.4	P20674	OTTHUMG00000142825	ENST00000322347.6:c.280C>T	15.37:g.75219166G>A	ENSP00000317780:p.Arg94Trp					COX5A_ENST00000568517.1_Missense_Mutation_p.R13W|COX5A_ENST00000567270.1_Missense_Mutation_p.R55W|COX5A_ENST00000568783.1_Missense_Mutation_p.R94W|COX5A_ENST00000564811.1_Missense_Mutation_p.R94W|COX5A_ENST00000562233.1_Intron	p.R94W	NM_004255.3	NP_004246.2	P20674	COX5A_HUMAN			3	433	-			94					P30045|Q8TB65	Missense_Mutation	SNP	ENST00000322347.6	37	c.280C>T	CCDS10273.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.737765	0.49045	.	.	ENSG00000178741	ENST00000322347	.	.	.	5.54	3.48	0.39840	.	0.000000	0.85682	D	0.000000	T	0.61924	0.2386	M	0.85197	2.74	0.80722	D	1	B	0.33318	0.408	B	0.24974	0.057	T	0.68288	-0.5448	9	0.72032	D	0.01	-2.7539	11.392	0.49820	0.0:0.0:0.4642:0.5358	.	94	P20674	COX5A_HUMAN	W	94	.	ENSP00000317780:R94W	R	-	1	2	COX5A	73006219	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.111000	0.31159	1.316000	0.45131	0.655000	0.94253	CGG		0.388	COX5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286417.1	NM_004255		5	111	0	0	0	1	0	5	111				
MAPK7	5598	broad.mit.edu	37	17	19284199	19284199	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr17:19284199G>A	ENST00000308406.5	+	4	1063	c.677G>A	c.(676-678)tGg>tAg	p.W226*	B9D1_ENST00000477478.2_5'Flank|MAPK7_ENST00000299612.7_Nonsense_Mutation_p.W87*|B9D1_ENST00000575403.1_5'Flank|MFAP4_ENST00000574313.2_5'Flank|MAPK7_ENST00000395604.3_Nonsense_Mutation_p.W226*|B9D1_ENST00000468679.3_5'Flank|MAPK7_ENST00000395602.4_Nonsense_Mutation_p.W226*|MAPK7_ENST00000571657.1_Intron	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	226	Necessary for oligomerization. {ECO:0000250}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cAMP-mediated signaling (GO:0019933)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to transforming growth factor beta stimulus (GO:0071560)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cAMP catabolic process (GO:0030821)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of response to cytokine stimulus (GO:0060761)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of angiogenesis (GO:0045765)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|mitogen-activated protein kinase binding (GO:0051019)			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					GCCACGCGCTGGTACCGTGCG	0.562																																						ENST00000308406.5																			0				autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30						c.(676-678)tGg>tAg		mitogen-activated protein kinase 7							78.0	68.0	71.0					17																	19284199		2203	4300	6503	SO:0001587	stop_gained	5598				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding	g.chr17:19284199G>A	U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	2.7.11.24	"""Mitogen-activated protein kinase cascade / Kinases"""	6880	protein-coding gene	gene with protein product	"""BMK1 kinase"", ""extracellular-signal-regulated kinase 5"""	602521		PRKM7		10072598, 7759517	Standard	NM_139032		Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.677G>A	17.37:g.19284199G>A	ENSP00000311005:p.Trp226*					MAPK7_ENST00000395602.4_Nonsense_Mutation_p.W226*|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000395604.3_Nonsense_Mutation_p.W226*|MAPK7_ENST00000299612.7_Nonsense_Mutation_p.W87*	p.W226*	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN			4	1063	+	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)		226			Necessary for oligomerization (By similarity).|Protein kinase.		Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	Nonsense_Mutation	SNP	ENST00000308406.5	37	c.677G>A	CCDS11206.1	.	.	.	.	.	.	.	.	.	.	G	37	6.326120	0.97476	.	.	ENSG00000166484	ENST00000308406;ENST00000299612;ENST00000443215;ENST00000395604;ENST00000395602	.	.	.	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.1511	15.5975	0.76599	0.0:0.0:1.0:0.0	.	.	.	.	X	226;87;226;226;226	.	ENSP00000299612:W87X	W	+	2	0	MAPK7	19224792	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.573000	0.98181	2.335000	0.79485	0.561000	0.74099	TGG		0.562	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132506.1	NM_139033		6	49	0	0	0	1	0	6	49				
CYP3A43	64816	broad.mit.edu	37	7	99461158	99461158	+	Splice_Site	SNP	A	A	G			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr7:99461158A>G	ENST00000354829.2	+	12	1356		c.e12-1		CYP3A43_ENST00000417625.1_Splice_Site|CYP3A43_ENST00000222382.5_Splice_Site_p.R419G|CYP3A43_ENST00000342499.4_Intron|CYP3A43_ENST00000477658.1_Intron|CYP3A43_ENST00000415413.1_Splice_Site|CYP3A43_ENST00000312017.5_Intron|CYP3A43_ENST00000444905.1_Intron	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43						small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Dexamethasone(DB01234)|Dolutegravir(DB08930)|Ethosuximide(DB00593)|Oxazepam(DB00842)|Phenelzine(DB00780)|Praziquantel(DB01058)|Rifampicin(DB01045)|Rifapentine(DB01201)|Testosterone(DB00624)|Troleandomycin(DB01361)|Zalcitabine(DB00943)	CTGTGAAAGTAGGTTCAGTAA	0.413																																						ENST00000354829.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19						c.e12-1		cytochrome P450, family 3, subfamily A, polypeptide 43	Cetirizine(DB00341)|Doxycycline(DB00254)						100.0	97.0	98.0					7																	99461158		2203	4300	6503	SO:0001630	splice_region_variant	64816				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr7:99461158A>G	AF319634	CCDS5675.1, CCDS5676.1, CCDS5677.1, CCDS64723.1	7q21.1	2007-12-14	2003-01-14		ENSG00000021461	ENSG00000021461		"""Cytochrome P450s"""	17450	protein-coding gene	gene with protein product		606534	"""cytochrome P450, subfamily IIIA, polypeptide 43"""			11160876, 11266076	Standard	NM_022820		Approved		uc003ury.1	Q9HB55	OTTHUMG00000156498	ENST00000354829.2:c.1254-1A>G	7.37:g.99461158A>G						CYP3A43_ENST00000415413.1_Splice_Site|CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000222382.5_Splice_Site_p.R419_splice|CYP3A43_ENST00000477658.1_Intron|CYP3A43_ENST00000417625.1_Splice_Site|CYP3A43_ENST00000342499.4_Intron|CYP3A43_ENST00000312017.5_Intron		NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN			12	1356	+	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)							Q495Y1|Q75MK2|Q75MK3|Q9HB52|Q9HB53|Q9HB54|Q9HB57	Splice_Site	SNP	ENST00000354829.2	37		CCDS5676.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.02|11.02	1.516256|1.516256	0.27123|0.27123	.|.	.|.	ENSG00000021461|ENSG00000021461	ENST00000354829;ENST00000417625;ENST00000415413|ENST00000222382	.|D	.|0.90563	.|-2.69	2.34|2.34	2.34|2.34	0.29019|0.29019	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.96830	.|0.8965	H|H	0.99225|0.99225	4.475|4.475	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	.|D	.|0.95643	.|0.8700	.|10	.|0.87932	.|D	.|0	.|.	8.5022|8.5022	0.33165|0.33165	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|419	.|Q75MK2	.|.	.|G	-1|419	.|ENSP00000222382:R419G	.|ENSP00000222382:R419G	.|R	+|+	.|1	.|2	CYP3A43|CYP3A43	99299094|99299094	1.000000|1.000000	0.71417|0.71417	0.890000|0.890000	0.34922|0.34922	0.352000|0.352000	0.29268|0.29268	8.264000|8.264000	0.89866|0.89866	1.313000|1.313000	0.45069|0.45069	0.172000|0.172000	0.16884|0.16884	.|AGG		0.413	CYP3A43-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000344379.1		Intron	23	47	0	0	0	1	0	23	47				
TTN	7273	broad.mit.edu	37	2	179456494	179456494	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr2:179456494C>T	ENST00000591111.1	-	253	55353	c.55129G>A	c.(55129-55131)Gaa>Aaa	p.E18377K	TTN_ENST00000359218.5_Missense_Mutation_p.E11078K|TTN_ENST00000460472.2_Missense_Mutation_p.E10953K|TTN_ENST00000589042.1_Missense_Mutation_p.E20018K|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E17450K|TTN_ENST00000342175.6_Missense_Mutation_p.E11145K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18377	Fibronectin type-III 33. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGCCTTCTTCTTGATATTCT	0.423																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(60052-60054)Gaa>Aaa		titin							97.0	90.0	92.0					2																	179456494		1863	4090	5953	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179456494C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.55129G>A	2.37:g.179456494C>T	ENSP00000465570:p.Glu18377Lys					TTN_ENST00000342175.6_Missense_Mutation_p.E11145K|TTN_ENST00000460472.2_Missense_Mutation_p.E10953K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E11078K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E18377K|TTN_ENST00000342992.6_Missense_Mutation_p.E17450K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA	p.E20018K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		303	60276	-			18377					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.60052G>A		.	.	.	.	.	.	.	.	.	.	C	19.51	3.840661	0.71488	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	6.16	5.26	0.73747	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.52273	0.1724	L	0.33485	1.01	0.58432	D	0.999999	P;P;P;P	0.40398	0.716;0.716;0.716;0.716	P;P;P;P	0.45610	0.487;0.487;0.487;0.487	T	0.55617	-0.8113	9	0.87932	D	0	.	17.6478	0.88153	0.0:0.8775:0.1225:0.0	.	10953;11078;11145;18377	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	17450;10953;11145;11078;10951	ENSP00000343764:E17450K;ENSP00000434586:E10953K;ENSP00000340554:E11145K;ENSP00000352154:E11078K	ENSP00000340554:E11145K	E	-	1	0	TTN	179164740	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.029000	0.70895	2.937000	0.99478	0.650000	0.86243	GAA		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		52	51	0	0	0	1	0	52	51				
SLC35D3	340146	broad.mit.edu	37	6	137243766	137243766	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr6:137243766T>C	ENST00000331858.4	+	1	365	c.200T>C	c.(199-201)gTg>gCg	p.V67A		NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	67					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		CTCATCGCCGTGCCCCCCTTC	0.716																																						ENST00000331858.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13						c.(199-201)gTg>gCg		solute carrier family 35, member D3							27.0	26.0	26.0					6																	137243766		2199	4297	6496	SO:0001583	missense	340146				carbohydrate transport	integral to membrane		g.chr6:137243766T>C		CCDS34544.1	6q23.2	2013-05-22			ENSG00000182747	ENSG00000182747		"""Solute carriers"""	15621	protein-coding gene	gene with protein product		612519		FRCL1			Standard	NM_001008783		Approved		uc003qhe.3	Q5M8T2	OTTHUMG00000015651	ENST00000331858.4:c.200T>C	6.37:g.137243766T>C	ENSP00000333591:p.Val67Ala						p.V67A	NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN		GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)	1	365	+	Colorectal(23;0.24)		67					B4DI58|Q5QNZ6|Q6NX71	Missense_Mutation	SNP	ENST00000331858.4	37	c.200T>C	CCDS34544.1	.	.	.	.	.	.	.	.	.	.	T	13.06	2.124223	0.37533	.	.	ENSG00000182747	ENST00000331858	T	0.57595	0.39	4.53	4.53	0.55603	.	0.463917	0.20275	N	0.095578	T	0.20333	0.0489	N	0.22421	0.69	0.43394	D	0.995511	B	0.29037	0.231	B	0.24541	0.054	T	0.06338	-1.0832	10	0.19147	T	0.46	-17.1351	13.5417	0.61679	0.0:0.0:0.0:1.0	.	67	Q5M8T2	S35D3_HUMAN	A	67	ENSP00000333591:V67A	ENSP00000333591:V67A	V	+	2	0	SLC35D3	137285459	1.000000	0.71417	0.987000	0.45799	0.824000	0.46624	4.643000	0.61390	1.688000	0.51068	0.402000	0.26972	GTG		0.716	SLC35D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042389.2	XM_294017		4	14	0	0	0	1	0	4	14				
MYLK	4638	broad.mit.edu	37	3	123383038	123383038	+	Missense_Mutation	SNP	G	G	A	rs201265306		TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr3:123383038G>A	ENST00000475616.1	-	20	3898	c.3899C>T	c.(3898-3900)gCg>gTg	p.A1300V	MYLK_ENST00000360304.3_Missense_Mutation_p.A1300V|MYLK_ENST00000510775.1_5'Flank|MYLK_ENST00000346322.5_Missense_Mutation_p.A1231V|MYLK_ENST00000354792.5_Missense_Mutation_p.A100V|MYLK_ENST00000360772.3_Missense_Mutation_p.A1300V|MYLK_ENST00000359169.1_Missense_Mutation_p.A1300V			Q15746	MYLK_HUMAN	myosin light chain kinase	1300	Actin-binding (calcium/calmodulin- insensitive). {ECO:0000250}.|Ig-like C2-type 8.			A -> G (in Ref. 1; CAA59685). {ECO:0000305}.	actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CTCCTGGCGCGCGGCCAGGAT	0.632																																						ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(3898-3900)gCg>gTg		myosin light chain kinase							137.0	130.0	132.0					3																	123383038		2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123383038G>A	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.3899C>T	3.37:g.123383038G>A	ENSP00000418335:p.Ala1300Val					MYLK_ENST00000360304.3_Missense_Mutation_p.A1300V|MYLK_ENST00000359169.1_Missense_Mutation_p.A1300V|MYLK_ENST00000354792.5_Missense_Mutation_p.A100V|MYLK_ENST00000346322.5_Missense_Mutation_p.A1231V|MYLK_ENST00000475616.1_Missense_Mutation_p.A1300V	p.A1300V			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	24	4277	-		Lung NSC(201;0.0496)	1300	A -> G (in Ref. 1; CAA59685).		Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 8.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.3899C>T	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.059782	0.36373	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000354792;ENST00000475616;ENST00000508240	T;T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	4.86	4.86	0.63082	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.44008	0.1273	N	0.16201	0.385	0.09310	N	0.999992	P;P;P;B;B	0.45078	0.48;0.689;0.85;0.291;0.339	B;B;B;B;B	0.37601	0.165;0.096;0.196;0.079;0.254	T	0.26052	-1.0114	9	0.16896	T	0.51	.	16.7545	0.85496	0.0:0.0:1.0:0.0	.	1300;1231;1300;1231;1300	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	V	1300;1300;1300;1231;100;1300;100	ENSP00000354004:A1300V;ENSP00000353452:A1300V;ENSP00000352088:A1300V;ENSP00000320622:A1231V;ENSP00000346846:A100V;ENSP00000418335:A1300V;ENSP00000422984:A100V	ENSP00000320622:A1231V	A	-	2	0	MYLK	124865728	0.931000	0.31567	0.196000	0.23383	0.879000	0.50718	5.717000	0.68446	2.260000	0.74910	0.655000	0.94253	GCG		0.632	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		81	112	0	0	0	1	0	81	112				
PYGM	5837	broad.mit.edu	37	11	64521044	64521044	+	Silent	SNP	C	C	T			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr11:64521044C>T	ENST00000164139.3	-	11	1748	c.1350G>A	c.(1348-1350)tcG>tcA	p.S450S	PYGM_ENST00000462303.1_5'Flank|PYGM_ENST00000377432.3_Silent_p.S362S	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	450					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGACGGCGTGCGACCCCGCGA	0.662																																						ENST00000164139.3																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1348-1350)tcG>tcA		phosphorylase, glycogen, muscle	Pyridoxal Phosphate(DB00114)						49.0	29.0	36.0					11																	64521044		2198	4295	6493	SO:0001819	synonymous_variant	5837				glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	g.chr11:64521044C>T		CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"""Glycogen phosphorylases"""	9726	protein-coding gene	gene with protein product	"""McArdle syndrome"", ""glycogen storage disease type V"", ""glycogen phosphorylase, muscle form"""	608455	"""phosphorylase, glycogen; muscle"""				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.1350G>A	11.37:g.64521044C>T						PYGM_ENST00000377432.3_Silent_p.S362S	p.S450S	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN			11	1748	-			450					A0AVK1|A6NDY6	Silent	SNP	ENST00000164139.3	37	c.1350G>A	CCDS8079.1																																																																																				0.662	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2	NM_005609		3	11	0	0	0	1	0	3	11				
MYH13	8735	broad.mit.edu	37	17	10247330	10247330	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr17:10247330T>C	ENST00000418404.3	-	15	1844	c.1681A>G	c.(1681-1683)Aaa>Gaa	p.K561E	MYH13_ENST00000252172.4_Missense_Mutation_p.K561E|RP11-401O9.3_ENST00000577743.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	561	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TTGTTGGATTTTCCAAGATGC	0.547																																						ENST00000418404.3																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(1681-1683)Aaa>Gaa		myosin, heavy chain 13, skeletal muscle							144.0	143.0	143.0					17																	10247330		2203	4300	6503	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10247330T>C	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.1681A>G	17.37:g.10247330T>C	ENSP00000404570:p.Lys561Glu					MYH13_ENST00000252172.4_Missense_Mutation_p.K561E|MYH13_ENST00000570743.1_Missense_Mutation_p.K561E	p.K561E			Q9UKX3	MYH13_HUMAN			15	1844	-			561			Myosin head-like.		O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.1681A>G	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.675978	0.88445	.	.	ENSG00000006788	ENST00000252172;ENST00000418404	T;T	0.75938	-0.66;-0.98	4.47	4.47	0.54385	Myosin head, motor domain (2);	.	.	.	.	D	0.88280	0.6394	M	0.91920	3.255	0.45867	D	0.998728	D	0.76494	0.999	D	0.79108	0.992	D	0.91031	0.4864	9	0.87932	D	0	.	14.2076	0.65744	0.0:0.0:0.0:1.0	.	561	Q9UKX3	MYH13_HUMAN	E	561;236	ENSP00000252172:K561E;ENSP00000404570:K236E	ENSP00000252172:K561E	K	-	1	0	MYH13	10188055	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.812000	0.86109	2.000000	0.58554	0.482000	0.46254	AAA		0.547	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		123	51	0	0	0	1	0	123	51				
PROC	5624	broad.mit.edu	37	2	128186041	128186041	+	Missense_Mutation	SNP	T	T	G			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr2:128186041T>G	ENST00000234071.3	+	9	992	c.905T>G	c.(904-906)cTg>cGg	p.L302R	PROC_ENST00000422777.3_Missense_Mutation_p.L302R|PROC_ENST00000453608.2_Missense_Mutation_p.L357R|PROC_ENST00000409048.1_Missense_Mutation_p.L336R	NM_000312.3	NP_000303.1	P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	302	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood coagulation (GO:0030195)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	GACATCGCACTGCTGCACCTG	0.647																																						ENST00000453608.2																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15						c.(1069-1071)cTg>cGg		protein C (inactivator of coagulation factors Va and VIIIa)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)						116.0	94.0	101.0					2																	128186041		2203	4300	6503	SO:0001583	missense	5624				blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity	g.chr2:128186041T>G	X02750	CCDS2145.1	2q13-q14	2014-01-30			ENSG00000115718	ENSG00000115718		"""Endogenous ligands"""	9451	protein-coding gene	gene with protein product	"""prepro-protein C"""	612283				2991887, 2437584	Standard	NM_000312		Approved		uc002tok.3	P04070	OTTHUMG00000131528	ENST00000234071.3:c.905T>G	2.37:g.128186041T>G	ENSP00000234071:p.Leu302Arg					PROC_ENST00000409048.1_Missense_Mutation_p.L336R|PROC_ENST00000422777.3_Missense_Mutation_p.L302R|PROC_ENST00000234071.3_Missense_Mutation_p.L302R	p.L357R			P04070	PROC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0673)	8	1078	+	Colorectal(110;0.1)		302			Peptidase S1.		B4DPQ7|Q15189|Q15190|Q16001|Q53S74|Q9UC55	Missense_Mutation	SNP	ENST00000234071.3	37	c.1070T>G	CCDS2145.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.76|16.76	3.211878|3.211878	0.58452|0.58452	.|.	.|.	ENSG00000115718|ENSG00000115718	ENST00000402125|ENST00000234071;ENST00000537436;ENST00000453608;ENST00000409048;ENST00000422777	.|D;D;D;D	.|0.97642	.|-4.47;-4.47;-4.47;-4.47	5.55|5.55	4.35|4.35	0.52113|0.52113	.|Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.|0.000000	.|0.34268	.|N	.|0.004102	D|D	0.99004|0.99004	0.9660|0.9660	H|H	0.98664|0.98664	4.295|4.295	0.58432|0.58432	D|D	0.999997|0.999997	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.999;0.997;0.999;0.998	D|D	0.98776|0.98776	1.0730|1.0730	5|10	.|0.87932	.|D	.|0	.|.	11.9778|11.9778	0.53103|0.53103	0.1294:0.0:0.0:0.8706|0.1294:0.0:0.0:0.8706	.|.	.|357;358;336;302	.|B4DPQ7;B4DPQ3;E7END6;P04070	.|.;.;.;PROC_HUMAN	G|R	77|302;261;357;336;302	.|ENSP00000234071:L302R;ENSP00000404030:L357R;ENSP00000386679:L336R;ENSP00000409543:L302R	.|ENSP00000234071:L302R	C|L	+|+	1|2	0|0	PROC|PROC	127902511|127902511	1.000000|1.000000	0.71417|0.71417	0.973000|0.973000	0.42090|0.42090	0.200000|0.200000	0.23975|0.23975	6.138000|6.138000	0.71717|0.71717	2.122000|2.122000	0.65172|0.65172	0.459000|0.459000	0.35465|0.35465	TGC|CTG		0.647	PROC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254385.2	NM_000312		14	54	0	0	0	1	0	14	54				
ENPP3	5169	broad.mit.edu	37	6	132006597	132006597	+	Missense_Mutation	SNP	G	G	A	rs377322848		TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr6:132006597G>A	ENST00000414305.1	+	14	1542	c.1214G>A	c.(1213-1215)cGc>cAc	p.R405H	ENPP3_ENST00000358229.5_Missense_Mutation_p.R405H|ENPP3_ENST00000357639.3_Missense_Mutation_p.R405H			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	405	Phosphodiesterase.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.R405L(1)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		CCTGCCCCCCGCATCCGAGCT	0.378																																						ENST00000414305.1																			1	Substitution - Missense(1)	p.R405L(1)	lung(1)	NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(1213-1215)cGc>cAc		ectonucleotide pyrophosphatase/phosphodiesterase 3		G	HIS/ARG	0,4406		0,0,2203	131.0	149.0	143.0		1214	4.8	1.0	6		143	1,8599	1.2+/-3.3	0,1,4299	no	missense	ENPP3	NM_005021.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	405/876	132006597	1,13005	2203	4300	6503	SO:0001583	missense	5169				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity	g.chr6:132006597G>A	AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"""CD molecules"""	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.1214G>A	6.37:g.132006597G>A	ENSP00000406261:p.Arg405His					ENPP3_ENST00000358229.5_Missense_Mutation_p.R405H|ENPP3_ENST00000357639.3_Missense_Mutation_p.R405H	p.R405H			O14638	ENPP3_HUMAN		GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)	14	1542	+	Breast(56;0.0753)		405			Phosphodiesterase.		Q5JTL3	Missense_Mutation	SNP	ENST00000414305.1	37	c.1214G>A	CCDS5148.1	.	.	.	.	.	.	.	.	.	.	G	19.17	3.775570	0.70107	0.0	1.16E-4	ENSG00000154269	ENST00000414305;ENST00000357639;ENST00000358229	T;T;T	0.71579	-0.58;-0.58;-0.58	5.69	4.82	0.62117	Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	T	0.77003	0.4067	M	0.63208	1.945	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80989	-0.1136	10	0.87932	D	0	-9.6216	13.7942	0.63160	0.0751:0.0:0.9249:0.0	.	405	O14638	ENPP3_HUMAN	H	405	ENSP00000406261:R405H;ENSP00000350265:R405H;ENSP00000350964:R405H	ENSP00000350265:R405H	R	+	2	0	ENPP3	132048290	1.000000	0.71417	0.952000	0.39060	0.633000	0.38033	7.500000	0.81588	1.422000	0.47177	0.591000	0.81541	CGC		0.378	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2			4	125	0	0	0	1	0	4	125				
MYLK	4638	broad.mit.edu	37	3	123368043	123368044	+	Splice_Site	INS	-	-	G	rs41431347|rs200371896	byFrequency	TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr3:123368043_123368044insG	ENST00000475616.1	-	22	4288		c.e22-2		MYLK_ENST00000360304.3_Splice_Site|MYLK_ENST00000346322.5_Splice_Site|MYLK_ENST00000354792.5_Splice_Site|MYLK_ENST00000360772.3_Splice_Site|MYLK_ENST00000359169.1_Splice_Site			Q15746	MYLK_HUMAN	myosin light chain kinase						actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCTTCGGCTCTGGGGGGGGCAC	0.624													?|GGGGGGGG|GGGGGGGGG|unsure	129	0.0257588	0.034	0.0303	5008	,	,		18148	0.0089		0.0348	False		,,,				2504	0.0194					ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.e26-2		myosin light chain kinase																																				SO:0001630	splice_region_variant	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123368043_123368044insG	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.4289-2->C	3.37:g.123368051_123368051dupG						MYLK_ENST00000475616.1_Splice_Site|MYLK_ENST00000360304.3_Splice_Site|MYLK_ENST00000359169.1_Splice_Site|MYLK_ENST00000354792.5_Splice_Site|MYLK_ENST00000346322.5_Splice_Site				Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	26	4667	-		Lung NSC(201;0.0496)						B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Splice_Site	INS	ENST00000475616.1	37		CCDS46896.1																																																																																				0.624	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025	Intron	8	108						8	108	---	---	---	---
RP11-19N8.4	0	broad.mit.edu	37	16	33070154	33070154	+	lincRNA	DEL	C	C	-			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr16:33070154delC	ENST00000561541.1	-	0	291																											CCTATCACATCCCATTCCAGC	0.488																																						ENST00000561541.1																			0																																																			0							g.chr16:33070154delC																													16.37:g.33070154delC														0	291	-									RNA	DEL	ENST00000561541.1	37																																																																																						0.488	RP11-19N8.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000432096.1			5	5						5	5	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578231	7578245	+	In_Frame_Del	DEL	CAAATACTCCACACG	CAAATACTCCACACG	-	rs587778719|rs587780072|rs142813240		TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr17:7578231_7578245delCAAATACTCCACACG	ENST00000269305.4	-	6	793_807	c.604_618delCGTGTGGAGTATTTG	c.(604-618)cgtgtggagtatttgdel	p.RVEYL202del	TP53_ENST00000445888.2_In_Frame_Del_p.RVEYL202del|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_In_Frame_Del_p.RVEYL202del|TP53_ENST00000413465.2_In_Frame_Del_p.RVEYL202del|TP53_ENST00000420246.2_In_Frame_Del_p.RVEYL202del|TP53_ENST00000455263.2_In_Frame_Del_p.RVEYL202del	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	202	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		LR -> FC (in a sporadic cancer; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y205C(68)|p.E204*(33)|p.Y205S(14)|p.Y205D(13)|p.Y205F(8)|p.Y205N(8)|p.0?(8)|p.L206*(7)|p.V203E(6)|p.R202S(6)|p.Y205H(5)|p.Y73C(5)|p.?(5)|p.Y112C(5)|p.R202H(4)|p.L206fs*41(4)|p.R202C(4)|p.R202P(4)|p.E204D(4)|p.Y205*(4)|p.E111*(3)|p.V203fs*44(3)|p.V203L(3)|p.V203V(3)|p.R202L(3)|p.E204fs*5(3)|p.E72*(3)|p.V203M(2)|p.E204G(2)|p.Y73N(2)|p.Y112N(2)|p.E204fs*43(2)|p.E204E(2)|p.E204K(2)|p.V203fs*6(2)|p.V203A(1)|p.Y205fs*42(1)|p.?fs(1)|p.P191fs*6(1)|p.E204fs*4(1)|p.E204fs*39(1)|p.E204_N210delEYLDDRN(1)|p.E72D(1)|p.R202G(1)|p.Y73S(1)|p.N200fs*4(1)|p.V203_E204>V*(1)|p.G199fs*42(1)|p.R202R(1)|p.Y205fs*43(1)|p.E204A(1)|p.L201_R202>FC(1)|p.R202fs*9(1)|p.R202fs*8(1)|p.V203_E204>LV(1)|p.R202fs*7(1)|p.Y112S(1)|p.L206F(1)|p.L206L(1)|p.E111D(1)|p.E204V(1)|p.E204Q(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TTCTGTCATCCAAATACTCCACACGCAAATTTCCT	0.549		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		279	Substitution - Missense(180)|Substitution - Nonsense(50)|Deletion - Frameshift(13)|Insertion - Frameshift(10)|Whole gene deletion(8)|Substitution - coding silent(7)|Unknown(5)|Complex - compound substitution(3)|Complex - frameshift(2)|Deletion - In frame(1)	p.Y205C(68)|p.E204*(33)|p.Y205S(14)|p.Y205D(13)|p.Y205F(8)|p.Y205N(8)|p.0?(8)|p.L206*(7)|p.V203E(6)|p.R202S(6)|p.Y205H(5)|p.Y73C(5)|p.?(5)|p.Y112C(5)|p.R202H(4)|p.L206fs*41(4)|p.R202C(4)|p.R202P(4)|p.E204D(4)|p.Y205*(4)|p.E111*(3)|p.V203fs*44(3)|p.V203L(3)|p.V203V(3)|p.R202L(3)|p.E204fs*5(3)|p.E72*(3)|p.V203M(2)|p.E204G(2)|p.Y73N(2)|p.Y112N(2)|p.E204fs*43(2)|p.E204E(2)|p.E204K(2)|p.V203fs*6(2)|p.V203A(1)|p.Y205fs*42(1)|p.?fs(1)|p.P191fs*6(1)|p.E204fs*4(1)|p.E204fs*39(1)|p.E204_N210delEYLDDRN(1)|p.E72D(1)|p.R202G(1)|p.Y73S(1)|p.N200fs*4(1)|p.V203_E204>V*(1)|p.G199fs*42(1)|p.R202R(1)|p.Y205fs*43(1)|p.E204A(1)|p.L201_R202>FC(1)|p.R202fs*9(1)|p.R202fs*8(1)|p.V203_E204>LV(1)|p.R202fs*7(1)|p.Y112S(1)|p.L206F(1)|p.L206L(1)|p.E111D(1)|p.E204V(1)|p.E204Q(1)	lung(39)|upper_aerodigestive_tract(37)|large_intestine(30)|haematopoietic_and_lymphoid_tissue(26)|breast(24)|endometrium(16)|oesophagus(14)|central_nervous_system(13)|ovary(13)|urinary_tract(12)|skin(11)|biliary_tract(9)|stomach(6)|soft_tissue(5)|liver(5)|NS(5)|bone(5)|pancreas(5)|prostate(2)|vulva(1)|autonomic_ganglia(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(604-618)del	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001651	inframe_deletion	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578231_7578245delCAAATACTCCACACG	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.604_618delCGTGTGGAGTATTTG	17.37:g.7578231_7578245delCAAATACTCCACACG	ENSP00000269305:p.Arg202_Leu206del	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_In_Frame_Del_p.RVEYL202del|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_In_Frame_Del_p.RVEYL202del|TP53_ENST00000455263.2_In_Frame_Del_p.RVEYL202del|TP53_ENST00000413465.2_In_Frame_Del_p.RVEYL202del|TP53_ENST00000445888.2_In_Frame_Del_p.RVEYL202del	p.RVEYL202del	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	736_750	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	202		LR -> FC (in a sporadic cancer; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	In_Frame_Del	DEL	ENST00000269305.4	37	c.604_618delCGTGTGGAGTATTTG	CCDS11118.1																																																																																				0.549	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		18	23						18	23	---	---	---	---
KRT40	125115	broad.mit.edu	37	17	39140333	39140334	+	In_Frame_Ins	INS	-	-	AAAGTAGCATGGTTG			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr17:39140333_39140334insAAAGTAGCATGGTTG	ENST00000398486.2	-	3	352_353	c.192_193insCAACCATGCTACTTT	c.(190-195)tttact>tttCAACCATGCTACTTTact	p.63_64insFQPCY	KRT40_ENST00000377755.4_In_Frame_Ins_p.63_64insFQPCY	NM_182497.3	NP_872303.2	Q6A162	K1C40_HUMAN	keratin 40	63	Head.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				CAACTCCCAGTAAAGTAGCATG	0.545																																						ENST00000377755.4																			0				endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(190-195)ttctgg>ttCAACCATGCTACTTTctgg		keratin 40																																				SO:0001652	inframe_insertion	125115					intermediate filament	structural molecule activity	g.chr17:39140333_39140334insAAAGTAGCATGGTTG	AK093919	CCDS42320.1	17q21.2	2013-01-16			ENSG00000204889	ENSG00000204889		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	26707	protein-coding gene	gene with protein product						16831889	Standard	NM_182497		Approved	FLJ36600, KA36	uc010cxh.1	Q6A162	OTTHUMG00000133596	ENST00000398486.2:c.192_193insCAACCATGCTACTTT	17.37:g.39140333_39140334insAAAGTAGCATGGTTG	ENSP00000381500:p.Tyr63_Phe64insPheGlnProCysTyr					KRT40_ENST00000398486.2_In_Frame_Ins_p.63_64insFNHAT	p.63_64insFNHAT			Q6A162	K1C40_HUMAN			1	226_227	-		Breast(137;0.00043)	63			Head.		Q6IFU5	In_Frame_Ins	INS	ENST00000398486.2	37	c.192_193insCAACCATGCTACTTT	CCDS42320.1																																																																																				0.545	KRT40-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257701.3	NM_182497		11	180						11	180	---	---	---	---
KCTD1	284252	broad.mit.edu	37	18	24128223	24128225	+	Intron	DEL	TCC	TCC	-	rs143299522	byFrequency	TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chr18:24128223_24128225delTCC	ENST00000408011.3	-	1	545				KCTD1_ENST00000417602.1_In_Frame_Del_p.92_93EE>E|KCTD1_ENST00000579973.1_Intron|KCTD1_ENST00000580059.1_5'Flank|KCTD1_ENST00000317932.7_Intron	NM_001136205.2	NP_001129677.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1						negative regulation of transcription, DNA-templated (GO:0045892)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			ctcctcctcttcctcctcctcct	0.655														134	0.0267572	0.0673	0.0086	5008	,	,		6875	0.0		0.008	False		,,,				2504	0.0317					ENST00000417602.1																			0				endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12						c.(274-279)gaa>ga		potassium channel tetramerization domain containing 1			,,	187,3139		43,101,1519					,,	-0.1	1.0		dbSNP_134	4	78,6614		13,52,3281	no	intron,coding,intron	KCTD1	NM_198991.2,NM_001142730.1,NM_001136205.1	,,	56,153,4800	A1A1,A1R,RR		1.1656,5.6224,2.6452	,,	,,		265,9753				SO:0001627	intron_variant	284252				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity	g.chr18:24128223_24128225delTCC	AF542549	CCDS11888.1	18q11.2	2013-09-20	2013-06-20		ENSG00000134504	ENSG00000134504			18249	protein-coding gene	gene with protein product		613420	"""potassium channel tetramerisation domain containing 1"""	C18orf5			Standard	NM_001142730		Approved		uc010xbj.3	Q719H9	OTTHUMG00000131947	ENST00000408011.3:c.14+629GGA>-	18.37:g.24128232_24128234delTCC						KCTD1_ENST00000408011.3_Intron|KCTD1_ENST00000317932.7_Intron|KCTD1_ENST00000579973.1_Intron	p.EE94del	NM_001142730.2	NP_001136202.1	Q719H9	KCTD1_HUMAN	Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)		1	275_277	-	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		0			BTB.		A8K1F5	In_Frame_Del	DEL	ENST00000408011.3	37	c.276_278delGGA	CCDS11888.1																																																																																				0.655	KCTD1-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000446265.1	XM_209091		2	4						2	4	---	---	---	---
HMGB3	3149	broad.mit.edu	37	X	150156315	150156316	+	Frame_Shift_Ins	INS	-	-	A			TCGA-UF-A7JK-01A-11D-A34J-08	TCGA-UF-A7JK-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c27adf9-c014-4362-a0e3-974f9522a393	938c2f93-5c8a-41fb-b2c4-3c501b059576	g.chrX:150156315_150156316insA	ENST00000325307.7	+	5	627_628	c.531_532insA	c.(532-534)aaafs	p.K178fs	HMGB3_ENST00000448905.2_Frame_Shift_Ins_p.K178fs	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	178					DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					AAGTTGCCCGGAAAAaggtgga	0.446																																						ENST00000325307.7																			0				endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(529-534)cgaaaafs		high mobility group box 3																																				SO:0001589	frameshift_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156315_150156316insA	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"""High-mobility group / Canonical"""	5004	protein-coding gene	gene with protein product	"""non-histone chromosomal protein"""	300193	"""high-mobility group (nonhistone chromosomal) protein 4"", ""high-mobility group box 3"""	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.536dupA	X.37:g.150156320_150156320dupA	ENSP00000359393:p.Lys178fs					HMGB3_ENST00000448905.2_Frame_Shift_Ins_p.RK177fs	p.RK177fs	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	627_628	+	Acute lymphoblastic leukemia(192;6.56e-05)		177					O95556|Q6NS40	Frame_Shift_Ins	INS	ENST00000325307.7	37	c.531_532insA	CCDS35428.1																																																																																				0.446	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		50	24						50	24	---	---	---	---
