#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
TMEM184A	202915	broad.mit.edu	37	7	1586596	1586596	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr7:1586596C>A	ENST00000297477.5	-	9	1550	c.1234G>T	c.(1234-1236)Gac>Tac	p.D412Y	TMEM184A_ENST00000449955.1_5'Flank	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	412					germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		CCCTACAGGTCCTCCGAGGGG	0.716																																						ENST00000297477.5																			0				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12						c.(1234-1236)Gac>Tac		transmembrane protein 184A							6.0	8.0	7.0					7																	1586596		1817	3990	5807	SO:0001583	missense	202915					integral to membrane		g.chr7:1586596C>A		CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.1234G>T	7.37:g.1586596C>A	ENSP00000297477:p.Asp412Tyr						p.D412Y	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)	9	1550	-		Ovarian(82;0.0253)	412					Q8TBQ6	Missense_Mutation	SNP	ENST00000297477.5	37	c.1234G>T	CCDS43537.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.769289	0.49680	.	.	ENSG00000164855	ENST00000297477	T	0.36520	1.25	5.42	5.42	0.78866	.	0.132442	0.49916	U	0.000129	T	0.58836	0.2150	M	0.64997	1.995	0.80722	D	1	D	0.71674	0.998	D	0.67900	0.954	T	0.61227	-0.7105	10	0.87932	D	0	-16.3266	19.2028	0.93717	0.0:1.0:0.0:0.0	.	412	Q6ZMB5	T184A_HUMAN	Y	412	ENSP00000297477:D412Y	ENSP00000297477:D412Y	D	-	1	0	TMEM184A	1553122	1.000000	0.71417	0.980000	0.43619	0.193000	0.23685	7.384000	0.79751	2.552000	0.86080	0.549000	0.68633	GAC		0.716	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4	NM_152689		7	17	1	0	0.00198382	1	0.00200434	7	17				
PARPBP	55010	broad.mit.edu	37	12	102542068	102542068	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr12:102542068C>T	ENST00000358383.5	+	3	259	c.214C>T	c.(214-216)Cat>Tat	p.H72Y	PARPBP_ENST00000392911.2_5'UTR|PARPBP_ENST00000543784.1_Intron|PARPBP_ENST00000535811.1_Intron|PARPBP_ENST00000378128.3_Missense_Mutation_p.H72Y|PARPBP_ENST00000327680.2_5'UTR|PARPBP_ENST00000537257.1_Missense_Mutation_p.H72Y|PARPBP_ENST00000541394.1_Missense_Mutation_p.H72Y			Q9NWS1	PARI_HUMAN	PARP1 binding protein	72					DNA repair (GO:0006281)|negative regulation of double-strand break repair via homologous recombination (GO:2000042)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|lung(8)|urinary_tract(2)	11						ATACTTGCTCCATGAGAAATT	0.333																																						ENST00000378128.3																			0				endometrium(1)|lung(8)|urinary_tract(2)	11						c.(214-216)Cat>Tat		PARP1 binding protein							78.0	78.0	78.0					12																	102542068		2203	4300	6503	SO:0001583	missense	55010				response to DNA damage stimulus	cytoplasm|nucleus	DNA binding	g.chr12:102542068C>T	AK000648	CCDS9090.1, CCDS9090.2	12q23.2	2013-03-14	2012-01-24	2012-01-24		ENSG00000185480			26074	protein-coding gene	gene with protein product	"""PARP-1 binding protein"""	613687	"""chromosome 12 open reading frame 48"""	C12orf48		20931645	Standard	NM_017915		Approved	FLJ20641, PARI	uc001tjf.3	Q9NWS1		ENST00000358383.5:c.214C>T	12.37:g.102542068C>T	ENSP00000351153:p.His72Tyr					PARPBP_ENST00000543784.1_Intron|PARPBP_ENST00000541394.1_Missense_Mutation_p.H72Y|PARPBP_ENST00000537257.1_Missense_Mutation_p.H72Y|PARPBP_ENST00000535811.1_Intron|PARPBP_ENST00000392911.2_5'UTR|PARPBP_ENST00000358383.5_Missense_Mutation_p.H72Y|PARPBP_ENST00000327680.2_5'UTR	p.H72Y			Q9NWS1	PR1BP_HUMAN			3	326	+			72					B4E0Y0|Q05C00|Q499L8|Q4FZA0|Q4KMW7|Q6NSC6|Q6PJA1|Q86W36	Missense_Mutation	SNP	ENST00000358383.5	37	c.214C>T	CCDS9090.2	.	.	.	.	.	.	.	.	.	.	C	11.12	1.546207	0.27652	.	.	ENSG00000185480	ENST00000378128;ENST00000541394;ENST00000537257;ENST00000358383;ENST00000417507;ENST00000412715	T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93	5.25	3.36	0.38483	.	.	.	.	.	T	0.54255	0.1847	M	0.67953	2.075	0.80722	D	1	D;P;D;D;D;P	0.63880	0.968;0.874;0.989;0.993;0.974;0.857	P;P;P;P;P;B	0.55749	0.783;0.466;0.744;0.774;0.564;0.346	T	0.56908	-0.7901	9	0.54805	T	0.06	0.003	13.2439	0.60012	0.4183:0.5817:0.0:0.0	.	72;72;72;72;72;72	B4DZ31;Q9NWS1-6;Q9NWS1-7;Q9NWS1-3;Q9NWS1;Q9NWS1-4	.;.;.;.;PR1BP_HUMAN;.	Y	72;72;72;72;39;39	ENSP00000367368:H72Y;ENSP00000440850:H72Y;ENSP00000442549:H72Y;ENSP00000351153:H72Y;ENSP00000411313:H39Y;ENSP00000393867:H39Y	ENSP00000351153:H72Y	H	+	1	0	C12orf48	101066198	1.000000	0.71417	0.624000	0.29186	0.552000	0.35366	1.501000	0.35693	0.660000	0.30964	-0.311000	0.09066	CAT		0.333	PARPBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397030.2	NM_017915		28	68	0	0	0	1	0	28	68				
CES1	1066	broad.mit.edu	37	16	55844898	55844898	+	Missense_Mutation	SNP	C	C	T	rs185780477	byFrequency	TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr16:55844898C>T	ENST00000361503.4	-	10	1238	c.1108G>A	c.(1108-1110)Gaa>Aaa	p.E370K	CES1_ENST00000422046.2_Missense_Mutation_p.E369K|CES1_ENST00000360526.3_Missense_Mutation_p.E371K			P23141	EST1_HUMAN	carboxylesterase 1	370					epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)								all cancers(182;0.13)|Epithelial(162;0.137)	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	AGTTGCCCTTCGGAGAGTGGA	0.423													.|||	2	0.000399361	0.0	0.0	5008	,	,		18141	0.002		0.0	False		,,,				2504	0.0				NSCLC(162;1801 2756 42904 52896)	ENST00000422046.2																			0											c.(1105-1107)Gaa>Aaa		carboxylesterase 1	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)						66.0	64.0	65.0					16																	55844898		2198	4300	6498	SO:0001583	missense	1066				response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55844898C>T	BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	3.1.1.1	"""Carboxylesterases"""	1863	protein-coding gene	gene with protein product	"""human monocyte/macrophage serine esterase 1"""	114835	"""carboxylesterase 1 (monocyte/macrophage serine esterase 1)"""			2070086, 20931200	Standard	XM_005255774		Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000361503.4:c.1108G>A	16.37:g.55844898C>T	ENSP00000355193:p.Glu370Lys					CES1_ENST00000360526.3_Missense_Mutation_p.E371K|CES1_ENST00000361503.4_Missense_Mutation_p.E370K	p.E369K			P23141	EST1_HUMAN		all cancers(182;0.13)|Epithelial(162;0.137)	10	1386	-			370					A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Missense_Mutation	SNP	ENST00000361503.4	37	c.1105G>A	CCDS45488.1	.	.	.	.	.	.	.	.	.	.	.	9.871	1.198880	0.22121	.	.	ENSG00000198848	ENST00000360526;ENST00000361503;ENST00000422046;ENST00000426667	T;T;T	0.09073	3.04;3.04;3.02	4.61	4.61	0.57282	Carboxylesterase, type B (1);	0.314435	0.27302	N	0.019990	T	0.10680	0.0261	L	0.51853	1.615	0.29809	N	0.83177	P;P;P	0.46578	0.76;0.88;0.854	B;B;B	0.42771	0.226;0.397;0.202	T	0.04693	-1.0933	10	0.35671	T	0.21	.	12.9788	0.58552	0.0:1.0:0.0:0.0	.	369;370;371	E9PAU8;P23141;P23141-2	.;EST1_HUMAN;.	K	371;370;369;235	ENSP00000353720:E371K;ENSP00000355193:E370K;ENSP00000390492:E369K	ENSP00000353720:E371K	E	-	1	0	CES1	54402399	0.153000	0.22777	0.953000	0.39169	0.007000	0.05969	0.969000	0.29370	2.134000	0.65973	0.449000	0.29647	GAA		0.423	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000433285.1	NM_001266		9	41	0	0	0	1	0	9	41				
GPR64	10149	broad.mit.edu	37	X	19009030	19009030	+	Silent	SNP	G	G	C			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chrX:19009030G>C	ENST00000379869.3	-	29	3169	c.3006C>G	c.(3004-3006)ctC>ctG	p.L1002L	GPR64_ENST00000354791.3_Silent_p.L986L|GPR64_ENST00000379876.1_Silent_p.L978L|GPR64_ENST00000379873.2_Silent_p.L951L|GPR64_ENST00000357991.3_Silent_p.L999L|GPR64_ENST00000360279.4_Silent_p.L980L|GPR64_ENST00000379878.3_Silent_p.L986L|GPR64_ENST00000357544.3_Silent_p.L972L|GPR64_ENST00000340581.3_Silent_p.L883L|GPR64_ENST00000356606.4_Silent_p.L988L	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	1002					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					AAGTCCTTCTGAGAGCCATAC	0.423																																						ENST00000379878.3																			0				breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42						c.(2956-2958)ctC>ctG		G protein-coupled receptor 64							168.0	149.0	155.0					X																	19009030		2203	4300	6503	SO:0001819	synonymous_variant	10149				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity	g.chrX:19009030G>C	X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.3006C>G	X.37:g.19009030G>C						GPR64_ENST00000357991.3_Silent_p.L999L|GPR64_ENST00000379869.3_Silent_p.L1002L|GPR64_ENST00000379873.2_Silent_p.L951L|GPR64_ENST00000379876.1_Silent_p.L978L|GPR64_ENST00000357544.3_Silent_p.L972L|GPR64_ENST00000340581.3_Silent_p.L883L|GPR64_ENST00000354791.3_Silent_p.L986L|GPR64_ENST00000356606.4_Silent_p.L988L|GPR64_ENST00000360279.4_Silent_p.L980L	p.L986L	NM_001184833.1	NP_001171762.1	Q8IZP9	GPR64_HUMAN			28	3199	-	Hepatocellular(33;0.183)		1002					B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Silent	SNP	ENST00000379869.3	37	c.2958C>G	CCDS43923.1																																																																																				0.423	GPR64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055970.2			38	157	0	0	0	1	0	38	157				
TUBB6	84617	broad.mit.edu	37	18	12311045	12311045	+	Silent	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr18:12311045C>T	ENST00000317702.5	+	3	504	c.270C>T	c.(268-270)ttC>ttT	p.F90F	TUBB6_ENST00000591909.1_Silent_p.F90F|TUBB6_ENST00000590967.1_Silent_p.F90F|TUBB6_ENST00000586653.1_Silent_p.F90F|TUBB6_ENST00000592683.1_Silent_p.F90F|TUBB6_ENST00000591208.1_Silent_p.F90F			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	90					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		CTGACAACTTCATCTTTGGTA	0.438																																						ENST00000317702.5																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14						c.(268-270)ttC>ttT		tubulin, beta 6 class V							101.0	89.0	93.0					18																	12311045		2203	4300	6503	SO:0001819	synonymous_variant	84617				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr18:12311045C>T	AK001295	CCDS11858.1	18p11.21	2011-10-10	2011-10-10		ENSG00000176014	ENSG00000176014		"""Tubulins"""	20776	protein-coding gene	gene with protein product	"""tubulin beta MGC4083"", ""class V beta-tubulin"""	615103	"""tubulin, beta 6"""			12477932	Standard	NM_032525		Approved	MGC4083, HsT1601	uc002kqw.3	Q9BUF5	OTTHUMG00000131692	ENST00000317702.5:c.270C>T	18.37:g.12311045C>T						TUBB6_ENST00000592683.1_Silent_p.F90F|TUBB6_ENST00000586653.1_Silent_p.F90F|TUBB6_ENST00000591208.1_Silent_p.F90F|TUBB6_ENST00000591909.1_Silent_p.F90F|TUBB6_ENST00000590967.1_Silent_p.F90F	p.F90F			Q9BUF5	TBB6_HUMAN		READ - Rectum adenocarcinoma(1;0.0649)	3	504	+			90					B3KM76|Q9HA42	Silent	SNP	ENST00000317702.5	37	c.270C>T	CCDS11858.1																																																																																				0.438	TUBB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254600.2	NM_032525		14	30	0	0	0	1	0	14	30				
FAT1	2195	broad.mit.edu	37	4	187628329	187628329	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr4:187628329G>A	ENST00000441802.2	-	2	2862	c.2653C>T	c.(2653-2655)Cga>Tga	p.R885*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	885	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGCAGCTCTCGATCCAGAGGG	0.512										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(2653-2655)Cga>Tga		FAT atypical cadherin 1							106.0	103.0	104.0					4																	187628329		2025	4199	6224	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187628329G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.2653C>T	4.37:g.187628329G>A	ENSP00000406229:p.Arg885*	HNSCC(5;0.00058)					p.R885*	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			2	2862	-			885			Cadherin 7.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.2653C>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	39	7.531466	0.98342	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	4.6	4.6	0.57074	.	0.108528	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.9981	0.58660	0.0:0.0:0.8386:0.1614	.	.	.	.	X	885	.	ENSP00000260147:R885X	R	-	1	2	FAT1	187865323	1.000000	0.71417	0.992000	0.48379	0.011000	0.07611	4.410000	0.59774	2.544000	0.85801	0.491000	0.48974	CGA		0.512	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		35	99	0	0	0	1	0	35	99				
RITA1	84934	broad.mit.edu	37	12	113629518	113629518	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr12:113629518C>T	ENST00000548278.1	+	4	1398	c.706C>T	c.(706-708)Cgg>Tgg	p.R236W	C12orf52_ENST00000552495.1_Missense_Mutation_p.R260W|C12orf52_ENST00000549621.1_Missense_Mutation_p.R236W|RP11-545P7.4_ENST00000552525.1_RNA	NM_032848.1	NP_116237.1	Q96K30	RITA1_HUMAN		236	Interaction with tubulin.				negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|Notch signaling pathway (GO:0007219)|nuclear export (GO:0051168)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	tubulin binding (GO:0015631)			large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						GGTGACCTTCCGGAGCCCCCT	0.617																																						ENST00000548278.1																			0				large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						c.(706-708)Cgg>Tgg		chromosome 12 open reading frame 52							60.0	56.0	57.0					12																	113629518		2203	4300	6503	SO:0001583	missense	84934				negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export	centrosome|nucleus	tubulin binding	g.chr12:113629518C>T																												ENST00000548278.1:c.706C>T	12.37:g.113629518C>T	ENSP00000449841:p.Arg236Trp					RP11-545P7.4_ENST00000552525.1_RNA|C12orf52_ENST00000552495.1_Missense_Mutation_p.R260W|C12orf52_ENST00000549621.1_Missense_Mutation_p.R236W	p.R236W	NM_032848.1	NP_116237.1	Q96K30	RITA_HUMAN			4	1398	+			236			Interaction with tubulin.		B3KVZ4|C9JIN1|F8VRG5|Q53GM3|Q96K25	Missense_Mutation	SNP	ENST00000548278.1	37	c.706C>T	CCDS9166.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.459475	0.43736	.	.	ENSG00000139405	ENST00000549621;ENST00000548278;ENST00000552495;ENST00000436053;ENST00000266813	T;T;T	0.35421	1.33;1.33;1.31	4.71	4.71	0.59529	.	0.413392	0.17840	N	0.160228	T	0.46092	0.1375	L	0.40543	1.245	0.09310	N	1	D;D	0.76494	0.999;0.999	P;P	0.59288	0.855;0.855	T	0.33033	-0.9884	10	0.87932	D	0	-3.6905	13.0367	0.58877	0.0:1.0:0.0:0.0	.	260;236	F8VRG5;Q96K30	.;RITA_HUMAN	W	236;236;260;236;233	ENSP00000448289:R236W;ENSP00000449841:R236W;ENSP00000448680:R260W	ENSP00000266813:R233W	R	+	1	2	C12orf52	112113901	0.080000	0.21391	0.038000	0.18304	0.064000	0.16182	2.354000	0.44098	2.430000	0.82344	0.655000	0.94253	CGG		0.617	C12orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405239.1			18	68	0	0	0	1	0	18	68				
BBS7	55212	broad.mit.edu	37	4	122747062	122747062	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr4:122747062C>T	ENST00000264499.4	-	19	2284	c.2101G>A	c.(2101-2103)Gac>Aac	p.D701N	CCNA2_ENST00000274026.5_5'Flank	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	701					brain development (GO:0007420)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|digestive tract morphogenesis (GO:0048546)|eye development (GO:0001654)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|limb development (GO:0060173)|melanosome transport (GO:0032402)|nonmotile primary cilium assembly (GO:0035058)|palate development (GO:0060021)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|visual perception (GO:0007601)	axoneme (GO:0005930)|BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TCATAACTGTCCAGAATTTCC	0.313									Bardet-Biedl syndrome																													ENST00000264499.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						c.(2101-2103)Gac>Aac		Bardet-Biedl syndrome 7							113.0	114.0	113.0					4																	122747062		2203	4298	6501	SO:0001583	missense	55212	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding	g.chr4:122747062C>T	AF521644	CCDS3724.1, CCDS54799.1	4q27	2013-01-08			ENSG00000138686	ENSG00000138686			18758	protein-coding gene	gene with protein product		607590					Standard	NM_176824		Approved	FLJ10715, BBS2L1	uc003ied.3	Q8IWZ6	OTTHUMG00000133076	ENST00000264499.4:c.2101G>A	4.37:g.122747062C>T	ENSP00000264499:p.Asp701Asn						p.D701N	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN			19	2284	-			701					Q4W5P8|Q8N581|Q9NVI4	Missense_Mutation	SNP	ENST00000264499.4	37	c.2101G>A	CCDS3724.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.472867	0.63737	.	.	ENSG00000138686	ENST00000264499;ENST00000507814	T;T	0.79033	-1.23;-1.23	5.81	5.81	0.92471	.	0.051392	0.85682	D	0.000000	T	0.73032	0.3535	L	0.38175	1.15	0.80722	D	1	B	0.18863	0.031	B	0.22386	0.039	T	0.65709	-0.6102	10	0.37606	T	0.19	-9.8997	20.0912	0.97820	0.0:1.0:0.0:0.0	.	701	Q8IWZ6	BBS7_HUMAN	N	701;124	ENSP00000264499:D701N;ENSP00000423250:D124N	ENSP00000264499:D701N	D	-	1	0	BBS7	122966512	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	4.839000	0.62810	2.746000	0.94184	0.591000	0.81541	GAC		0.313	BBS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256716.1			16	46	0	0	0	1	0	16	46				
MROH9	80133	broad.mit.edu	37	1	170927657	170927657	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr1:170927657C>T	ENST00000367758.3	+	4	227	c.128C>T	c.(127-129)tCc>tTc	p.S43F	MROH9_ENST00000367759.4_Missense_Mutation_p.S43F	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	43																	AGTAATGAATCCATGATCCTG	0.308																																						ENST00000367759.4																			0											c.(127-129)tCc>tTc		maestro heat-like repeat family member 9							138.0	140.0	139.0					1																	170927657		1845	4097	5942	SO:0001583	missense	80133							g.chr1:170927657C>T	AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"""maestro heat-like repeat containing"""	26287	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 129"""	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.128C>T	1.37:g.170927657C>T	ENSP00000356732:p.Ser43Phe					MROH9_ENST00000367758.3_Missense_Mutation_p.S43F	p.S43F	NM_001163629.1	NP_001157101.1					4	282	+								A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Missense_Mutation	SNP	ENST00000367758.3	37	c.128C>T	CCDS41436.1	.	.	.	.	.	.	.	.	.	.	C	8.921	0.960996	0.18583	.	.	ENSG00000117501	ENST00000367759;ENST00000367758	T;T	0.16897	3.95;2.31	4.94	3.07	0.35406	.	0.883695	0.09510	N	0.792433	T	0.03739	0.0106	N	0.16478	0.41	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.14023	0.01;0.01	T	0.43442	-0.9391	10	0.46703	T	0.11	-1.6766	8.2793	0.31892	0.0:0.8127:0.0:0.1873	.	43;43	F5GWX6;Q5TGP6	.;CA129_HUMAN	F	43	ENSP00000356733:S43F;ENSP00000356732:S43F	ENSP00000356732:S43F	S	+	2	0	C1orf129	169194281	0.032000	0.19561	0.005000	0.12908	0.002000	0.02628	0.706000	0.25690	0.769000	0.33313	-0.149000	0.13747	TCC		0.308	MROH9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000099327.1	NM_025063		31	88	0	0	0	1	0	31	88				
SACS	26278	broad.mit.edu	37	13	23911360	23911360	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr13:23911360G>C	ENST00000382292.3	-	9	6928	c.6655C>G	c.(6655-6657)Ctg>Gtg	p.L2219V	SACS_ENST00000402364.1_Missense_Mutation_p.L1469V|SACS_ENST00000382298.3_Missense_Mutation_p.L2219V			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2219					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GGTTTTGTCAGAAATGGAAGG	0.378																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(6655-6657)Ctg>Gtg		spastic ataxia of Charlevoix-Saguenay (sacsin)							53.0	55.0	55.0					13																	23911360		2201	4299	6500	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23911360G>C	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.6655C>G	13.37:g.23911360G>C	ENSP00000371729:p.Leu2219Val					SACS_ENST00000402364.1_Missense_Mutation_p.L1469V|SACS_ENST00000382292.3_Missense_Mutation_p.L2219V	p.L2219V	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	7243	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	2219					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.6655C>G	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	G	12.80	2.047852	0.36085	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.91351	-2.81;-2.83;-2.81	5.93	4.2	0.49525	.	0.000000	0.64402	D	0.000001	D	0.88097	0.6345	L	0.56769	1.78	0.35246	D	0.778257	P	0.38420	0.63	B	0.36418	0.224	D	0.88479	0.3067	10	0.87932	D	0	.	12.5344	0.56135	0.1931:0.0:0.8069:0.0	.	2219	Q9NZJ4	SACS_HUMAN	V	2219;1469;2219	ENSP00000371729:L2219V;ENSP00000385844:L1469V;ENSP00000371735:L2219V	ENSP00000371729:L2219V	L	-	1	2	SACS	22809360	1.000000	0.71417	0.915000	0.36163	0.834000	0.47266	1.764000	0.38471	0.424000	0.26061	-0.813000	0.03139	CTG		0.378	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		43	68	0	0	0	1	0	43	68				
TBC1D4	9882	broad.mit.edu	37	13	75863124	75863124	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr13:75863124C>G	ENST00000377636.3	-	20	3955	c.3609G>C	c.(3607-3609)gaG>gaC	p.E1203D	TBC1D4_ENST00000425511.1_Missense_Mutation_p.E367D|TBC1D4_ENST00000377625.2_Missense_Mutation_p.E1140D|TBC1D4_ENST00000431480.2_Missense_Mutation_p.E1195D	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	1203					cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TATTGGCCCTCTCCAGCTTCT	0.408																																						ENST00000377636.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(3607-3609)gaG>gaC		TBC1 domain family, member 4							167.0	151.0	156.0					13																	75863124		1852	4098	5950	SO:0001583	missense	9882					cytoplasm	Rab GTPase activator activity	g.chr13:75863124C>G	AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.3609G>C	13.37:g.75863124C>G	ENSP00000366863:p.Glu1203Asp					TBC1D4_ENST00000377625.2_Missense_Mutation_p.E1140D|TBC1D4_ENST00000425511.1_Missense_Mutation_p.E367D|TBC1D4_ENST00000431480.2_Missense_Mutation_p.E1195D	p.E1203D	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN		GBM - Glioblastoma multiforme(99;0.0116)	20	3955	-		Prostate(6;0.014)|Breast(118;0.0982)	1203					A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Missense_Mutation	SNP	ENST00000377636.3	37	c.3609G>C	CCDS41901.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.344608	0.82022	.	.	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625;ENST00000425511	T;T;T;D	0.83163	3.74;3.77;3.82;-1.69	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.89784	0.6815	M	0.79258	2.445	0.50171	D	0.999856	D;D;D;D	0.89917	0.996;1.0;1.0;0.998	D;D;D;D	0.91635	0.966;0.994;0.999;0.99	D	0.90216	0.4268	10	0.87932	D	0	-29.7264	9.9628	0.41706	0.0:0.8485:0.0:0.1515	.	367;1140;1195;1203	O60343-4;O60343-2;O60343-3;O60343	.;.;.;TBCD4_HUMAN	D	1203;1195;1140;367	ENSP00000366863:E1203D;ENSP00000395986:E1195D;ENSP00000366852:E1140D;ENSP00000390654:E367D	ENSP00000366852:E1140D	E	-	3	2	TBC1D4	74761125	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.110000	0.31147	2.634000	0.89283	0.650000	0.86243	GAG		0.408	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832		42	138	0	0	0	1	0	42	138				
STX19	415117	broad.mit.edu	37	3	93733462	93733462	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr3:93733462C>T	ENST00000315099.2	-	2	908	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K	ARL13B_ENST00000535334.1_Intron|ARL13B_ENST00000486562.1_Intron|ARL13B_ENST00000303097.7_Intron|ARL13B_ENST00000471138.1_Intron|ARL13B_ENST00000394222.3_Intron|ARL13B_ENST00000539730.1_Intron	NM_001001850.2	NP_001001850.1	Q8N4C7	STX19_HUMAN	syntaxin 19	218	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)				kidney(2)|large_intestine(2)|lung(4)|prostate(1)	9						TTAACAAGTTCCTTGTGTCTC	0.328																																						ENST00000315099.2																			0				kidney(2)|large_intestine(2)|lung(4)|prostate(1)	9						c.(652-654)Gaa>Aaa		syntaxin 19							69.0	70.0	70.0					3																	93733462		2202	4298	6500	SO:0001583	missense	415117				intracellular protein transport|vesicle-mediated transport	membrane	SNAP receptor activity	g.chr3:93733462C>T	AF461456	CCDS33793.1	3q11	2005-12-30			ENSG00000178750	ENSG00000178750			19300	protein-coding gene	gene with protein product							Standard	NM_001001850		Approved	MGC21382	uc003drh.1	Q8N4C7	OTTHUMG00000159013	ENST00000315099.2:c.652G>A	3.37:g.93733462C>T	ENSP00000320679:p.Glu218Lys					ARL13B_ENST00000394222.3_Intron|ARL13B_ENST00000535334.1_Intron|ARL13B_ENST00000303097.7_Intron|ARL13B_ENST00000471138.1_Intron|ARL13B_ENST00000539730.1_Intron|ARL13B_ENST00000486562.1_Intron	p.E218K	NM_001001850.2	NP_001001850.1	Q8N4C7	STX19_HUMAN			2	908	-			218			t-SNARE coiled-coil homology.			Missense_Mutation	SNP	ENST00000315099.2	37	c.652G>A	CCDS33793.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.532361	0.85812	.	.	ENSG00000178750	ENST00000315099	T	0.30448	1.53	4.86	4.86	0.63082	t-SNARE (1);Syntaxin/epimorphin, conserved site (1);Target SNARE coiled-coil domain (3);	0.000000	0.85682	D	0.000000	T	0.64897	0.2640	M	0.91818	3.245	0.80722	D	1	D	0.71674	0.998	D	0.69824	0.966	T	0.73675	-0.3908	10	0.66056	D	0.02	-2.2068	18.9415	0.92607	0.0:1.0:0.0:0.0	.	218	Q8N4C7	STX19_HUMAN	K	218	ENSP00000320679:E218K	ENSP00000320679:E218K	E	-	1	0	STX19	95216152	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	5.680000	0.68168	2.651000	0.90000	0.650000	0.86243	GAA		0.328	STX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352909.1	NM_001001850		29	80	0	0	0	1	0	29	80				
OC90	729330	broad.mit.edu	37	8	133041368	133041368	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr8:133041368C>T	ENST00000443356.2	-	14	1224	c.1138G>A	c.(1138-1140)Gag>Aag	p.E380K	OC90_ENST00000603859.1_Missense_Mutation_p.E364K|OC90_ENST00000254627.3_Missense_Mutation_p.E364K|OC90_ENST00000262283.5_Missense_Mutation_p.E576K			Q02509	OC90_HUMAN	otoconin 90	380					lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			GGAAGCCTCTCAAGCAGGCAG	0.512																																						ENST00000262283.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37						c.(1726-1728)Gag>Aag		otoconin 90							133.0	135.0	134.0					8																	133041368		2112	4226	6338	SO:0001583	missense	729330				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	g.chr8:133041368C>T	Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.1138G>A	8.37:g.133041368C>T	ENSP00000390050:p.Glu380Lys					OC90_ENST00000603859.1_Missense_Mutation_p.E364K|OC90_ENST00000443356.2_Missense_Mutation_p.E380K|OC90_ENST00000254627.3_Missense_Mutation_p.E364K	p.E576K			Q02509	OC90_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)		17	1825	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		380					B4DNG8	Missense_Mutation	SNP	ENST00000443356.2	37	c.1726G>A		.	.	.	.	.	.	.	.	.	.	C	15.49	2.849260	0.51270	.	.	ENSG00000253117;ENSG00000253117;ENSG00000258417	ENST00000254627;ENST00000443356;ENST00000262283	T;T;T	0.24350	1.86;1.86;1.86	5.92	5.92	0.95590	Phospholipase A2 (3);	0.459417	0.26317	N	0.025068	T	0.30947	0.0781	N	0.17674	0.51	0.30789	N	0.741176	P;P	0.38473	0.58;0.633	B;P	0.51945	0.373;0.685	T	0.11012	-1.0605	10	0.23891	T	0.37	-8.6235	17.044	0.86497	0.0:1.0:0.0:0.0	.	364;380	Q02509-2;Q02509	.;OC90_HUMAN	K	364;380;576	ENSP00000254627:E364K;ENSP00000390050:E380K;ENSP00000262283:E576K	ENSP00000254627:E364K	E	-	1	0	RP11-240B13.2;OC90	133110550	0.909000	0.30893	0.591000	0.28745	0.068000	0.16541	3.715000	0.54897	2.818000	0.97014	0.655000	0.94253	GAG		0.512	OC90-201	KNOWN	basic	protein_coding	protein_coding		NM_001080399		32	78	0	0	0	1	0	32	78				
AJUBA	84962	broad.mit.edu	37	14	23445919	23445919	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr14:23445919G>A	ENST00000262713.2	-	3	1486	c.1111C>T	c.(1111-1113)Cga>Tga	p.R371*	AJUBA_ENST00000361265.4_Nonsense_Mutation_p.R371*|RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000397388.3_5'UTR	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	371	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										CGCAAAGTTCGCCCTAGAAAC	0.493																																						ENST00000262713.2																			0											c.(1111-1113)Cga>Tga		ajuba LIM protein							118.0	109.0	112.0					14																	23445919		2203	4300	6503	SO:0001587	stop_gained	84962				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding	g.chr14:23445919G>A	AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"""jub, ajuba homolog (Xenopus laevis)"""	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.1111C>T	14.37:g.23445919G>A	ENSP00000262713:p.Arg371*					AJUBA_ENST00000361265.4_Nonsense_Mutation_p.R371*|RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000397388.3_5'UTR	p.R371*	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN			3	1486	-			371			LIM zinc-binding 1.		A8MX18|D3DS37	Nonsense_Mutation	SNP	ENST00000262713.2	37	c.1111C>T	CCDS9581.1	.	.	.	.	.	.	.	.	.	.	G	36	5.909110	0.97093	.	.	ENSG00000129474	ENST00000262713;ENST00000361265	.	.	.	5.74	-0.407	0.12385	.	0.185059	0.34802	N	0.003678	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.6627	0.45712	0.0:0.1026:0.3529:0.5444	.	.	.	.	X	371	.	ENSP00000262713:R371X	R	-	1	2	JUB	22515759	0.996000	0.38824	0.900000	0.35374	0.855000	0.48748	2.085000	0.41634	0.029000	0.15352	0.655000	0.94253	CGA		0.493	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071685.2			21	73	0	0	0	1	0	21	73				
ZNF624	57547	broad.mit.edu	37	17	16527243	16527243	+	Silent	SNP	G	G	C			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr17:16527243G>C	ENST00000311331.7	-	6	1048	c.957C>G	c.(955-957)ctC>ctG	p.L319L		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	319					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TGTGCTGACTGAGATATGAAG	0.348																																					NSCLC(186;1023 2134 13330 38202 39800)	ENST00000311331.7																			0				breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26						c.(955-957)ctC>ctG		zinc finger protein 624							105.0	103.0	104.0					17																	16527243		2203	4300	6503	SO:0001819	synonymous_variant	57547				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:16527243G>C	AB037770	CCDS11180.1	17p11.2	2013-01-08			ENSG00000197566	ENSG00000197566		"""Zinc fingers, C2H2-type"", ""-"""	29254	protein-coding gene	gene with protein product						10718198	Standard	NM_020787		Approved	KIAA1349	uc010cpi.2	Q9P2J8	OTTHUMG00000058996	ENST00000311331.7:c.957C>G	17.37:g.16527243G>C							p.L319L	NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	6	1048	-			319					Q3SY62|Q3SY63|Q6ZN27	Silent	SNP	ENST00000311331.7	37	c.957C>G	CCDS11180.1																																																																																				0.348	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130512.3	XM_047617		28	104	0	0	0	1	0	28	104				
ERAP2	64167	broad.mit.edu	37	5	96238049	96238049	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr5:96238049C>G	ENST00000437043.3	+	12	2531	c.1820C>G	c.(1819-1821)tCa>tGa	p.S607*	ERAP2_ENST00000515095.1_3'UTR|ERAP2_ENST00000379904.4_Nonsense_Mutation_p.S562*|CTD-2260A17.2_ENST00000501338.1_Intron	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	607					antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|regulation of blood pressure (GO:0008217)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		ATTCTAAAATCAAAGACAGGT	0.358																																						ENST00000437043.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(1819-1821)tCa>tGa		endoplasmic reticulum aminopeptidase 2							93.0	88.0	90.0					5																	96238049		2203	4300	6503	SO:0001587	stop_gained	64167				antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr5:96238049C>G	AF191545	CCDS4086.1	5q15	2007-11-21			ENSG00000164308	ENSG00000164308			29499	protein-coding gene	gene with protein product	"""leukocyte-derived arginine aminopeptidase"""	609497				12799365, 15908954	Standard	NM_022350		Approved	L-RAP, LRAP	uc003kmt.3	Q6P179	OTTHUMG00000128718	ENST00000437043.3:c.1820C>G	5.37:g.96238049C>G	ENSP00000400376:p.Ser607*					ERAP2_ENST00000515095.1_3'UTR|CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000379904.4_Nonsense_Mutation_p.S562*	p.S607*	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN		COAD - Colon adenocarcinoma(37;0.0703)	12	2531	+		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)	607					Q7Z5K1|Q8TD32|Q8WVJ4|Q9HBX2	Nonsense_Mutation	SNP	ENST00000437043.3	37	c.1820C>G	CCDS4086.1	.	.	.	.	.	.	.	.	.	.	C	37	6.225854	0.97394	.	.	ENSG00000164308	ENST00000437043;ENST00000510373;ENST00000379904	.	.	.	4.14	2.17	0.27698	.	1.367550	0.05091	N	0.485275	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	3.6843	0.08323	0.1662:0.5747:0.1622:0.0969	.	.	.	.	X	607;607;562	.	ENSP00000369235:S562X	S	+	2	0	ERAP2	96263805	0.219000	0.23619	0.999000	0.59377	0.950000	0.60333	0.586000	0.23894	0.851000	0.35264	0.557000	0.71058	TCA		0.358	ERAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250623.2	NM_022350		41	23	0	0	0	1	0	41	23				
C1orf87	127795	broad.mit.edu	37	1	60463440	60463440	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr1:60463440A>T	ENST00000371201.3	-	11	1428	c.1321T>A	c.(1321-1323)Tca>Aca	p.S441T	C1orf87_ENST00000486478.1_5'UTR|C1orf87_ENST00000395552.1_Missense_Mutation_p.S75T|C1orf87_ENST00000450089.2_Missense_Mutation_p.S212T	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	441							calcium ion binding (GO:0005509)			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TTGCAGGCTGAAGTTTCAGCA	0.493																																					NSCLC(75;811 1386 4923 13371 51772)	ENST00000371201.3																			0				breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1321-1323)Tca>Aca		chromosome 1 open reading frame 87							83.0	83.0	83.0					1																	60463440		2203	4300	6503	SO:0001583	missense	127795						calcium ion binding	g.chr1:60463440A>T	AK124828	CCDS614.1	1p32.1	2014-04-03			ENSG00000162598	ENSG00000162598			28547	protein-coding gene	gene with protein product	"""carcinoma-related EF-hand protein"""					12477932	Standard	NM_152377		Approved	MGC34837, CREF	uc001czs.2	Q8N0U7	OTTHUMG00000008992	ENST00000371201.3:c.1321T>A	1.37:g.60463440A>T	ENSP00000360244:p.Ser441Thr					C1orf87_ENST00000486478.1_5'UTR|C1orf87_ENST00000450089.2_Missense_Mutation_p.S212T|C1orf87_ENST00000395552.1_Missense_Mutation_p.S75T	p.S441T	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN			11	1428	-			441					Q6ZU07|Q8IVS0	Missense_Mutation	SNP	ENST00000371201.3	37	c.1321T>A	CCDS614.1	.	.	.	.	.	.	.	.	.	.	A	9.317	1.057057	0.19907	.	.	ENSG00000162598	ENST00000371201;ENST00000395552;ENST00000450089	T;T	0.34072	2.15;1.38	5.16	1.34	0.21922	.	1.303710	0.05613	N	0.578358	T	0.31544	0.0800	L	0.47716	1.5	0.09310	N	1	P	0.44816	0.844	B	0.41764	0.366	T	0.26780	-1.0093	10	0.56958	D	0.05	-1.8463	2.8318	0.05502	0.6004:0.0:0.2145:0.1851	.	441	Q8N0U7	CA087_HUMAN	T	441;75;212	ENSP00000360244:S441T;ENSP00000378921:S75T	ENSP00000360244:S441T	S	-	1	0	C1orf87	60236028	0.001000	0.12720	0.024000	0.17045	0.509000	0.34042	0.523000	0.22925	0.512000	0.28257	0.528000	0.53228	TCA		0.493	C1orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024943.1	NM_152377		21	29	0	0	0	1	0	21	29				
IQSEC3	440073	broad.mit.edu	37	12	248431	248431	+	Silent	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr12:248431C>T	ENST00000538872.1	+	4	2020	c.1902C>T	c.(1900-1902)tgC>tgT	p.C634C	IQSEC3_ENST00000326261.4_Silent_p.C634C|RP11-598F7.4_ENST00000505893.2_RNA|RP11-598F7.4_ENST00000508953.2_RNA|IQSEC3_ENST00000382841.2_Silent_p.C331C			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	634					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		GCTACCACTGCGAGAACCCAG	0.657																																						ENST00000538872.1																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1900-1902)tgC>tgT		IQ motif and Sec7 domain 3							28.0	22.0	24.0					12																	248431		2201	4298	6499	SO:0001819	synonymous_variant	440073				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chr12:248431C>T	AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.1902C>T	12.37:g.248431C>T						IQSEC3_ENST00000326261.4_Silent_p.C634C|RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000382841.2_Silent_p.C331C	p.C634C			Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	4	2020	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		634					A6NIF2|A6NKV9|Q8TB43	Silent	SNP	ENST00000538872.1	37	c.1902C>T	CCDS53728.1																																																																																				0.657	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	XM_495902		3	10	0	0	0	1	0	3	10				
TRPM8	79054	broad.mit.edu	37	2	234851309	234851309	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr2:234851309G>C	ENST00000324695.4	+	6	656	c.616G>C	c.(616-618)Gag>Cag	p.E206Q	TRPM8_ENST00000355722.4_Missense_Mutation_p.E156Q|TRPM8_ENST00000433712.2_5'UTR|TRPM8_ENST00000409625.1_Missense_Mutation_p.E129Q	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	206					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CAGGAGTTCAGAGGAGAATAT	0.537																																						ENST00000324695.4																			0				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66						c.(616-618)Gag>Cag		transient receptor potential cation channel, subfamily M, member 8	Menthol(DB00825)						203.0	189.0	194.0					2																	234851309		2203	4300	6503	SO:0001583	missense	79054					integral to membrane		g.chr2:234851309G>C	AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.616G>C	2.37:g.234851309G>C	ENSP00000323926:p.Glu206Gln					TRPM8_ENST00000433712.2_5'UTR|TRPM8_ENST00000409625.1_Missense_Mutation_p.E129Q|TRPM8_ENST00000355722.4_Missense_Mutation_p.E156Q	p.E206Q	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	6	656	+		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)	206					A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Missense_Mutation	SNP	ENST00000324695.4	37	c.616G>C	CCDS33407.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.412972	0.42817	.	.	ENSG00000144481	ENST00000324695;ENST00000355722;ENST00000409625	T;T;T	0.59224	0.28;0.28;0.28	5.23	5.23	0.72850	.	0.000000	0.64402	D	0.000001	T	0.71281	0.3321	L	0.54908	1.71	0.80722	D	1	B;D	0.76494	0.057;0.999	B;D	0.75484	0.07;0.986	T	0.67654	-0.5615	10	0.30078	T	0.28	-28.0594	17.362	0.87353	0.0:0.0:1.0:0.0	.	156;206	Q7Z2W7-2;Q7Z2W7	.;TRPM8_HUMAN	Q	206;156;129	ENSP00000323926:E206Q;ENSP00000347956:E156Q;ENSP00000386771:E129Q	ENSP00000323926:E206Q	E	+	1	0	TRPM8	234516048	1.000000	0.71417	0.940000	0.37924	0.905000	0.53344	5.950000	0.70265	2.442000	0.82660	0.591000	0.81541	GAG		0.537	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080		28	95	0	0	0	1	0	28	95				
STKLD1	169436	broad.mit.edu	37	9	136256512	136256512	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr9:136256512G>A	ENST00000371957.3	+	7	630	c.523G>A	c.(523-525)Gac>Aac	p.D175N	C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.4	Q8NE28	STKL1_HUMAN		175	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CAAACTGCAGGACCTGAGTTC	0.552																																						ENST00000371957.3																			0				autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25						c.(523-525)Gac>Aac		chromosome 9 open reading frame 96							258.0	252.0	254.0					9																	136256512		2203	4300	6503	SO:0001583	missense	169436						ATP binding|protein kinase activity	g.chr9:136256512G>A																												ENST00000371957.3:c.523G>A	9.37:g.136256512G>A	ENSP00000361025:p.Asp175Asn					C9orf96_ENST00000371955.1_5'UTR	p.D175N	NM_153710.3	NP_714921.3	Q8NE28	SGK71_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	7	630	+			175			Protein kinase.		Q5T8U8|Q6ZMP6|Q6ZMQ5	Missense_Mutation	SNP	ENST00000371957.3	37	c.523G>A	CCDS35169.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.156757	0.57259	.	.	ENSG00000198870	ENST00000371957	D	0.92965	-3.14	4.34	4.34	0.51931	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.074377	0.53938	D	0.000042	D	0.96436	0.8837	M	0.91717	3.235	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96791	0.9582	10	0.72032	D	0.01	-40.3603	12.1996	0.54317	0.0:0.0:1.0:0.0	.	175	Q8NE28	SGK71_HUMAN	N	175	ENSP00000361025:D175N	ENSP00000361025:D175N	D	+	1	0	C9orf96	135246333	1.000000	0.71417	0.998000	0.56505	0.356000	0.29392	4.977000	0.63792	2.251000	0.74343	0.561000	0.74099	GAC		0.552	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054855.1			63	320	0	0	0	1	0	63	320				
NOTCH1	4851	broad.mit.edu	37	9	139404356	139404356	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr9:139404356C>A	ENST00000277541.6	-	18	2873	c.2798G>T	c.(2797-2799)tGc>tTc	p.C933F		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	933	EGF-like 24. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCCGGGCAGGCAGTCGCAGAA	0.647			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(2797-2799)tGc>tTc		notch 1							72.0	86.0	81.0					9																	139404356		2046	4179	6225	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139404356C>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.2798G>T	9.37:g.139404356C>A	ENSP00000277541:p.Cys933Phe	HNSCC(8;0.001)					p.C933F	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	18	2873	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	933			EGF-like 24.		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.2798G>T	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.911461	0.92178	.	.	ENSG00000148400	ENST00000277541	D	0.99992	-12.4	4.88	4.88	0.63580	EGF (1);EGF-like region, conserved site (2);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99994	0.9999	H	0.99867	4.865	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99996	1.5545	10	0.87932	D	0	.	16.5962	0.84797	0.0:1.0:0.0:0.0	.	933	P46531	NOTC1_HUMAN	F	933	ENSP00000277541:C933F	ENSP00000277541:C933F	C	-	2	0	NOTCH1	138524177	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.649000	0.83500	2.235000	0.73313	0.655000	0.94253	TGC		0.647	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		27	141	1	0	3.73808e-20	1	4.02668e-20	27	141				
UNC5B	219699	broad.mit.edu	37	10	73057676	73057676	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr10:73057676G>A	ENST00000335350.6	+	16	2917	c.2501G>A	c.(2500-2502)gGc>gAc	p.G834D	UNC5B_ENST00000373192.4_Missense_Mutation_p.G823D	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	834	UPA domain. {ECO:0000250}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						ACACCTGCTGGCTCCCTGGAC	0.617																																						ENST00000335350.6																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						c.(2500-2502)gGc>gAc		unc-5 homolog B (C. elegans)							132.0	103.0	113.0					10																	73057676		2203	4300	6503	SO:0001583	missense	219699				apoptosis|axon guidance|regulation of apoptosis	integral to membrane		g.chr10:73057676G>A	AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"""Immunoglobulin superfamily / I-set domain containing"""	12568	protein-coding gene	gene with protein product		607870	"""unc5 (C.elegans homolog) b"""				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.2501G>A	10.37:g.73057676G>A	ENSP00000334329:p.Gly834Asp					UNC5B_ENST00000373192.4_Missense_Mutation_p.G823D	p.G834D	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN			16	2917	+			834					Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	37	c.2501G>A	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	G	9.968	1.224814	0.22457	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.50813	0.78;0.73	5.73	5.73	0.89815	.	0.332646	0.29707	N	0.011413	T	0.27594	0.0678	N	0.14661	0.345	0.36097	D	0.843853	B;B	0.31949	0.348;0.121	B;B	0.29267	0.1;0.031	T	0.31916	-0.9926	10	0.14252	T	0.57	-33.5938	11.2979	0.49288	0.1404:0.0:0.8596:0.0	.	823;834	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	D	834;823	ENSP00000334329:G834D;ENSP00000362288:G823D	ENSP00000334329:G834D	G	+	2	0	UNC5B	72727682	1.000000	0.71417	0.999000	0.59377	0.515000	0.34225	5.300000	0.65721	2.722000	0.93159	0.655000	0.94253	GGC		0.617	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		19	72	0	0	0	1	0	19	72				
RBM25	58517	broad.mit.edu	37	14	73563709	73563709	+	Silent	SNP	T	T	G			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr14:73563709T>G	ENST00000261973.7	+	7	915	c.630T>G	c.(628-630)gcT>gcG	p.A210A	RBM25_ENST00000527432.1_Silent_p.A210A|RBM25_ENST00000540173.1_Silent_p.A210A|RBM25_ENST00000526754.1_Silent_p.A210A|RBM25_ENST00000525321.1_Silent_p.A210A	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	210					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		TTAAAGGGGCTATTGAAGTTT	0.423																																						ENST00000261973.7																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31						c.(628-630)gcT>gcG		RNA binding motif protein 25							124.0	122.0	123.0					14																	73563709		2203	4300	6503	SO:0001819	synonymous_variant	58517				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding	g.chr14:73563709T>G	BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"""RNA binding motif (RRM) containing"""	23244	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 94"""	612427	"""RNA-binding region (RNP1, RRM) containing 7"""	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.630T>G	14.37:g.73563709T>G						RBM25_ENST00000540173.1_Silent_p.A210A|RBM25_ENST00000526754.1_Silent_p.A210A|RBM25_ENST00000525321.1_Silent_p.A210A|RBM25_ENST00000527432.1_Silent_p.A210A	p.A210A	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)	7	915	+			210					A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Silent	SNP	ENST00000261973.7	37	c.630T>G	CCDS32113.1																																																																																				0.423	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	XM_027330		24	73	0	0	0	1	0	24	73				
AHCTF1	25909	broad.mit.edu	37	1	247013690	247013690	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr1:247013690C>T	ENST00000391829.2	-	33	5741	c.5618G>A	c.(5617-5619)aGa>aAa	p.R1873K	AHCTF1_ENST00000366508.1_Missense_Mutation_p.R1908K|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Missense_Mutation_p.R1882K			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1873	Disordered. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTTAATTCTTCTAGGAGTCCT	0.313																																					Colon(145;197 1800 4745 15099 26333)	ENST00000366508.1																			0				NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74						c.(5722-5724)aGa>aAa		AT hook containing transcription factor 1							50.0	52.0	52.0					1																	247013690		2190	4295	6485	SO:0001583	missense	25909				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247013690C>T		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.5618G>A	1.37:g.247013690C>T	ENSP00000375705:p.Arg1873Lys					AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000391829.2_Missense_Mutation_p.R1873K|AHCTF1_ENST00000326225.3_Missense_Mutation_p.R1882K	p.R1908K			Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		33	5859	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	1873			Necessary for nuclear localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	37	c.5723G>A		.	.	.	.	.	.	.	.	.	.	C	10.53	1.375759	0.24857	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.38401	1.14;1.14;1.14	5.81	-2.83	0.05769	.	0.609652	0.17011	N	0.190510	T	0.18923	0.0454	N	0.24115	0.695	0.29049	N	0.88461	B;B;B	0.12013	0.005;0.002;0.001	B;B;B	0.12156	0.007;0.003;0.001	T	0.39396	-0.9616	10	0.02654	T	1	-11.9784	14.6115	0.68519	0.0:0.6836:0.0:0.3164	.	734;1908;1873	B3KTD2;Q8WYP5-2;Q8WYP5	.;.;ELYS_HUMAN	K	1908;1882;1873	ENSP00000355464:R1908K;ENSP00000355465:R1882K;ENSP00000375705:R1873K	ENSP00000355465:R1882K	R	-	2	0	AHCTF1	245080313	0.305000	0.24481	0.980000	0.43619	0.966000	0.64601	0.176000	0.16782	-0.418000	0.07450	-0.345000	0.07892	AGA		0.313	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		34	77	0	0	0	1	0	34	77				
HIC2	23119	broad.mit.edu	37	22	21800952	21800952	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr22:21800952G>A	ENST00000443632.2	+	2	2140	c.1768G>A	c.(1768-1770)Gag>Aag	p.E590K	HIC2_ENST00000407464.2_Missense_Mutation_p.E590K|HIC2_ENST00000407598.2_Missense_Mutation_p.E590K			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	590					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				GAAACCTTACGAGTGCCAGCT	0.647																																					NSCLC(23;437 858 2282 27947 40366)	ENST00000443632.2																			0				NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1768-1770)Gag>Aag		hypermethylated in cancer 2							65.0	62.0	63.0					22																	21800952		2203	4300	6503	SO:0001583	missense	23119				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding	g.chr22:21800952G>A	AB028943	CCDS13789.1	22q11.21	2013-01-09			ENSG00000169635	ENSG00000169635		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18595	protein-coding gene	gene with protein product		607712				11554746	Standard	NM_015094		Approved	KIAA1020, HRG22, ZBTB30, ZNF907	uc002zur.4	Q96JB3	OTTHUMG00000150781	ENST00000443632.2:c.1768G>A	22.37:g.21800952G>A	ENSP00000387757:p.Glu590Lys					HIC2_ENST00000407598.2_Missense_Mutation_p.E590K|HIC2_ENST00000407464.2_Missense_Mutation_p.E590K	p.E590K			Q96JB3	HIC2_HUMAN			2	2140	+	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)	590					Q504T6|Q96KR3|Q9NSM9|Q9UPX9	Missense_Mutation	SNP	ENST00000443632.2	37	c.1768G>A	CCDS13789.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.988957	0.93106	.	.	ENSG00000169635	ENST00000407464;ENST00000407598;ENST00000443632	T;T;T	0.19250	2.16;2.16;2.16	4.92	4.92	0.64577	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.17408	0.0418	N	0.01096	-1.015	0.58432	D	0.999996	D	0.89917	1.0	D	0.70016	0.967	T	0.51585	-0.8687	10	0.23891	T	0.37	.	15.719	0.77694	0.0:0.0:1.0:0.0	.	590	Q96JB3	HIC2_HUMAN	K	590	ENSP00000385319:E590K;ENSP00000384889:E590K;ENSP00000387757:E590K	ENSP00000385319:E590K	E	+	1	0	HIC2	20130952	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	9.547000	0.98100	2.572000	0.86782	0.650000	0.86243	GAG		0.647	HIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320061.2			21	31	0	0	0	1	0	21	31				
ECHDC2	55268	broad.mit.edu	37	1	53377397	53377397	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr1:53377397C>T	ENST00000371522.4	-	2	280	c.187G>A	c.(187-189)Gag>Aag	p.E63K	ECHDC2_ENST00000541281.1_Missense_Mutation_p.E17K|ECHDC2_ENST00000480312.2_5'UTR|ECHDC2_ENST00000536120.1_Missense_Mutation_p.E17K|ECHDC2_ENST00000358358.5_Missense_Mutation_p.E63K	NM_001198961.1	NP_001185890.1	Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	63					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	lyase activity (GO:0016829)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						TTTCTTACCTCACTGACGAAG	0.587																																						ENST00000536120.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						c.(49-51)Gag>Aag		enoyl CoA hydratase domain containing 2							70.0	70.0	70.0					1																	53377397		2203	4300	6503	SO:0001583	missense	55268				fatty acid metabolic process	mitochondrion	lyase activity	g.chr1:53377397C>T	AF258590	CCDS571.1, CCDS55600.1, CCDS72794.1	1p32.3	2010-04-30	2010-04-30		ENSG00000121310	ENSG00000121310			23408	protein-coding gene	gene with protein product			"""enoyl Coenzyme A hydratase domain containing 2"""				Standard	NM_018281		Approved	FLJ10948	uc001cup.4	Q86YB7	OTTHUMG00000008927	ENST00000371522.4:c.187G>A	1.37:g.53377397C>T	ENSP00000360577:p.Glu63Lys					ECHDC2_ENST00000480312.2_5'UTR|ECHDC2_ENST00000371522.4_Missense_Mutation_p.E63K|ECHDC2_ENST00000541281.1_Missense_Mutation_p.E17K|ECHDC2_ENST00000358358.5_Missense_Mutation_p.E63K	p.E17K			Q86YB7	ECHD2_HUMAN			5	866	-			63					D3DQ36|Q9NV38	Missense_Mutation	SNP	ENST00000371522.4	37	c.49G>A	CCDS55600.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.157137	0.38119	.	.	ENSG00000121310	ENST00000371522;ENST00000358358;ENST00000536120;ENST00000467988;ENST00000541281	T;T;T;T;T	0.79653	-1.07;-1.29;-1.07;-1.29;-1.07	4.28	-1.51	0.08664	Crotonase, core (1);	0.287578	0.38897	N	0.001524	D	0.85583	0.5730	M	0.88377	2.95	0.24042	N	0.996078	B;P;P	0.44521	0.192;0.717;0.837	B;P;B	0.47864	0.187;0.559;0.423	T	0.82808	-0.0274	10	0.59425	D	0.04	.	16.9454	0.86228	0.0:0.3328:0.6672:0.0	.	17;63;63	B4DSN9;Q86YB7;Q86YB7-2	.;ECHD2_HUMAN;.	K	63;63;17;63;17	ENSP00000360577:E63K;ENSP00000351125:E63K;ENSP00000439264:E17K;ENSP00000441962:E63K;ENSP00000445358:E17K	ENSP00000351125:E63K	E	-	1	0	ECHDC2	53149985	0.085000	0.21516	0.024000	0.17045	0.378000	0.30076	0.100000	0.15231	-0.370000	0.08016	-0.314000	0.08810	GAG		0.587	ECHDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024712.3	NM_018281		24	56	0	0	0	1	0	24	56				
DCAF11	80344	broad.mit.edu	37	14	24586208	24586208	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr14:24586208G>C	ENST00000446197.3	+	3	965	c.238G>C	c.(238-240)Gac>Cac	p.D80H	DCAF11_ENST00000559115.1_Missense_Mutation_p.D80H|DCAF11_ENST00000396936.1_Start_Codon_SNP_p.M1I|DCAF11_ENST00000396941.4_Missense_Mutation_p.D54H|NRL_ENST00000561028.1_5'Flank|DCAF11_ENST00000560171.1_Intron	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	80					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)											GGAAGAGAATGACAGAGCTTG	0.488																																						ENST00000446197.3																			0											c.(238-240)Gac>Cac		DDB1 and CUL4 associated factor 11							119.0	114.0	115.0					14																	24586208		2203	4300	6503	SO:0001583	missense	80344					CUL4 RING ubiquitin ligase complex	protein binding	g.chr14:24586208G>C	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.238G>C	14.37:g.24586208G>C	ENSP00000415556:p.Asp80His					DCAF11_ENST00000396941.4_Missense_Mutation_p.D54H|DCAF11_ENST00000559115.1_Missense_Mutation_p.D80H|DCAF11_ENST00000396936.1_Start_Codon_SNP_p.M1I|DCAF11_ENST00000560171.1_Intron	p.D80H	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN			3	965	+			80					B3KQ83|D3DS56|Q5D039|Q86U00|Q86U39|Q8NDN2|Q9H2J0|Q9H3A3|Q9H5C9	Missense_Mutation	SNP	ENST00000446197.3	37	c.238G>C	CCDS9610.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	18.95|18.95	3.730868|3.730868	0.69074|0.69074	.|.	.|.	ENSG00000100897|ENSG00000100897	ENST00000326009;ENST00000446197;ENST00000396941|ENST00000396936	T|T	0.43294|0.49139	0.95|0.79	5.22|5.22	5.22|5.22	0.72569|0.72569	.|.	0.045729|.	0.85682|.	D|.	0.000000|.	T|T	0.48370|0.48370	0.1496|0.1496	L|L	0.57536|0.57536	1.79|1.79	0.22842|0.22842	N|N	0.998662|0.998662	D;D;D|B;B	0.89917|0.14012	1.0;0.996;0.999|0.005;0.009	D;P;D|B;B	0.81914|0.11329	0.973;0.894;0.995|0.003;0.006	T|T	0.39542|0.39542	-0.9609|-0.9609	10|9	0.15499|0.49607	T|T	0.54|0.09	-19.5002|-19.5002	16.3214|16.3214	0.82952|0.82952	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	54;80;80|24;1	Q8TEB1-2;A8K9T2;Q8TEB1|Q59GN6;Q8TEB1-3	.;.;DCA11_HUMAN|.;.	H|I	80;54;54|1	ENSP00000380146:D54H|ENSP00000380142:M1I	ENSP00000323680:D80H|ENSP00000380142:M1I	D|M	+|+	1|3	0|0	DCAF11|DCAF11	23656048|23656048	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.434000|7.434000	0.80377|0.80377	2.720000|2.720000	0.93068|0.93068	0.563000|0.563000	0.77884|0.77884	GAC|ATG		0.488	DCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071907.4			32	94	0	0	0	1	0	32	94				
IQSEC2	23096	broad.mit.edu	37	X	53308797	53308797	+	Intron	SNP	T	T	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chrX:53308797T>A	ENST00000375368.5	-	2	908				IQSEC2_ENST00000396435.3_Intron|IQSEC2_ENST00000375365.2_Missense_Mutation_p.Q24L|IQSEC2_ENST00000462054.1_5'UTR			Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2						actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						GTCAAGGACCTGAGTAGGACA	0.547																																						ENST00000375365.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						c.(70-72)cAg>cTg		IQ motif and Sec7 domain 2							111.0	82.0	92.0					X																	53308797		2203	4300	6503	SO:0001627	intron_variant	23096				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chrX:53308797T>A	AB011094	CCDS35298.1, CCDS48130.1	Xp11.23	2014-01-31			ENSG00000124313	ENSG00000124313			29059	protein-coding gene	gene with protein product		300522	"""mental retardation, X-linked 1 (non-dysmorphic)"""	MRX1		9628581, 20473311	Standard	NM_001243197		Approved	KIAA0522	uc004dsd.3	Q5JU85	OTTHUMG00000021608	ENST00000375368.5:c.708-23554A>T	X.37:g.53308797T>A						IQSEC2_ENST00000375368.5_Intron|IQSEC2_ENST00000396435.3_Intron|IQSEC2_ENST00000462054.1_5'UTR	p.Q24L	NM_015075.1	NP_055890.1	Q5JU85	IQEC2_HUMAN			2	163	-			0					B3KT97|C7SDG1|O60275|Q5JUX1	Missense_Mutation	SNP	ENST00000375368.5	37	c.71A>T		.	.	.	.	.	.	.	.	.	.	T	15.38	2.816936	0.50633	.	.	ENSG00000124313	ENST00000375365	T	0.12147	2.71	5.02	3.83	0.44106	.	.	.	.	.	T	0.11196	0.0273	.	.	.	0.80722	D	1	B	0.31817	0.341	B	0.29785	0.107	T	0.08452	-1.0721	8	0.51188	T	0.08	.	8.0657	0.30659	0.0:0.1001:0.0:0.8999	.	24	Q5JU85-3	.	L	24	ENSP00000364514:Q24L	ENSP00000364514:Q24L	Q	-	2	0	IQSEC2	53325522	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.660000	0.37397	1.666000	0.50821	0.451000	0.29950	CAG		0.547	IQSEC2-201	KNOWN	basic	protein_coding	protein_coding		XM_291345		14	29	0	0	0	1	0	14	29				
ZNF736	728927	broad.mit.edu	37	7	63796700	63796700	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr7:63796700T>A	ENST00000423484.2	+	2	189	c.67T>A	c.(67-69)Tct>Act	p.S23T	ZNF736_ENST00000355095.4_Missense_Mutation_p.S23T			B4DX44	ZN736_HUMAN	zinc finger protein 736	23	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|stomach(1)|urinary_tract(1)	9						ATGCCTGGACTCTGCTCAGCA	0.423																																						ENST00000355095.4																			0				breast(1)|endometrium(6)|stomach(1)|urinary_tract(1)	9						c.(67-69)Tct>Act		zinc finger protein 736							57.0	60.0	59.0					7																	63796700		692	1591	2283	SO:0001583	missense	728927				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63796700T>A		CCDS55114.1	7q11.21	2013-01-08			ENSG00000234444	ENSG00000234444		"""Zinc fingers, C2H2-type"", ""-"""	32467	protein-coding gene	gene with protein product							Standard	XM_006716104		Approved		uc011kdo.2	B4DX44	OTTHUMG00000156537	ENST00000423484.2:c.67T>A	7.37:g.63796700T>A	ENSP00000400852:p.Ser23Thr					ZNF736_ENST00000423484.1_Missense_Mutation_p.S23T	p.S23T	NM_001170905.1	NP_001164376.1	B4DX44	ZN736_HUMAN			3	389	+			23			KRAB.			Missense_Mutation	SNP	ENST00000423484.2	37	c.67T>A	CCDS55114.1	.	.	.	.	.	.	.	.	.	.	T	0.268	-0.994599	0.02145	.	.	ENSG00000234444	ENST00000355095;ENST00000423484	T;T	0.01821	4.62;4.62	0.602	-0.601	0.11638	Krueppel-associated box (4);	.	.	.	.	T	0.02688	0.0081	N	0.25485	0.75	0.09310	N	0.999999	P	0.47677	0.899	P	0.55923	0.787	T	0.48445	-0.9035	7	.	.	.	.	.	.	.	.	23	B4DX44	ZN736_HUMAN	T	23	ENSP00000347210:S23T;ENSP00000400852:S23T	.	S	+	1	0	ZNF736	63434135	0.000000	0.05858	0.431000	0.26735	0.551000	0.35334	-1.826000	0.01705	-0.309000	0.08779	0.260000	0.18958	TCT		0.423	ZNF736-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000344559.2	NM_001170905		20	26	0	0	0	1	0	20	26				
NAGPA	51172	broad.mit.edu	37	16	5081808	5081808	+	Missense_Mutation	SNP	C	C	T	rs145897634		TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr16:5081808C>T	ENST00000312251.3	-	3	639	c.620G>A	c.(619-621)cGt>cAt	p.R207H	NAGPA_ENST00000381955.3_Missense_Mutation_p.R207H|NAGPA_ENST00000564922.1_5'Flank|RP11-165E7.1_ENST00000588778.1_RNA|ALG1_ENST00000588623.1_5'Flank	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	207					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|lysosome organization (GO:0007040)|protein glycosylation (GO:0006486)|protein targeting to lysosome (GO:0006622)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity (GO:0003944)			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	GCTTCCATTACGAATCAGCCA	0.562																																						ENST00000312251.3																			0				endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12						c.(619-621)cGt>cAt		N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	N-Acetyl-D-glucosamine(DB00141)						205.0	176.0	186.0					16																	5081808		2197	4300	6497	SO:0001583	missense	51172				carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity	g.chr16:5081808C>T	AF187072	CCDS10527.1	16p13.3	2008-02-05			ENSG00000103174	ENSG00000103174	3.1.4.45		17378	protein-coding gene	gene with protein product		607985				10551838, 12058031	Standard	NM_016256		Approved	APAA, UCE	uc002cyg.3	Q9UK23	OTTHUMG00000090515	ENST00000312251.3:c.620G>A	16.37:g.5081808C>T	ENSP00000310998:p.Arg207His					NAGPA_ENST00000381955.3_Missense_Mutation_p.R207H|RP11-165E7.1_ENST00000588778.1_RNA	p.R207H	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN			3	639	-			207					B2RAS1|Q96EJ8	Missense_Mutation	SNP	ENST00000312251.3	37	c.620G>A	CCDS10527.1	.	.	.	.	.	.	.	.	.	.	C	32	5.113146	0.94339	.	.	ENSG00000103174	ENST00000312251;ENST00000381955	T;T	0.42131	0.98;1.17	4.52	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.69762	0.3147	M	0.87381	2.88	0.51767	D	0.999938	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.77667	-0.2502	10	0.87932	D	0	-23.9717	17.2411	0.87013	0.0:1.0:0.0:0.0	.	207;207	Q9UK23;Q9UK23-2	NAGPA_HUMAN;.	H	207	ENSP00000310998:R207H;ENSP00000371381:R207H	ENSP00000310998:R207H	R	-	2	0	NAGPA	5021809	1.000000	0.71417	0.960000	0.40013	0.929000	0.56500	7.710000	0.84655	2.065000	0.61736	0.555000	0.69702	CGT		0.562	NAGPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207003.1	NM_016256		57	163	0	0	0	1	0	57	163				
TMED9	54732	broad.mit.edu	37	5	177022351	177022351	+	Silent	SNP	C	C	T	rs370667269		TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr5:177022351C>T	ENST00000332598.6	+	5	699	c.642C>T	c.(640-642)ctC>ctT	p.L214L		NM_017510.4	NP_059980.2	Q9BVK6	TMED9_HUMAN	transmembrane emp24 protein transport domain containing 9	214					COPI coating of Golgi vesicle (GO:0048205)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|trans-Golgi network transport vesicle (GO:0030140)	syntaxin binding (GO:0019905)			endometrium(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(2)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCTCATCCTCGTGGCCATCG	0.592																																						ENST00000332598.6																			0				endometrium(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(2)	10						c.(640-642)ctC>ctT		transmembrane emp24 protein transport domain containing 9							80.0	76.0	77.0					5																	177022351		2203	4300	6503	SO:0001819	synonymous_variant	54732				transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane		g.chr5:177022351C>T	AF441399	CCDS4428.1	5q35.3	2008-02-05			ENSG00000184840	ENSG00000184840			24878	protein-coding gene	gene with protein product						12477932	Standard	NM_017510		Approved	HSGP25L2G	uc003mhx.3	Q9BVK6	OTTHUMG00000130859	ENST00000332598.6:c.642C>T	5.37:g.177022351C>T							p.L214L	NM_017510.4	NP_059980.2	Q9BVK6	TMED9_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	699	+	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	214					Q14437|Q8WZ61	Silent	SNP	ENST00000332598.6	37	c.642C>T	CCDS4428.1																																																																																				0.592	TMED9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253433.1	NM_017510		16	77	0	0	0	1	0	16	77				
ZNF562	54811	broad.mit.edu	37	19	9763749	9763749	+	Missense_Mutation	SNP	G	G	A	rs570871699		TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr19:9763749G>A	ENST00000448622.1	-	6	1319	c.1157C>T	c.(1156-1158)aCg>aTg	p.T386M	ZNF562_ENST00000537617.1_Missense_Mutation_p.T270M|ZNF562_ENST00000590155.1_Missense_Mutation_p.T385M|ZNF562_ENST00000453372.2_Missense_Mutation_p.T386M|ZNF562_ENST00000541032.1_Missense_Mutation_p.T349M|ZNF562_ENST00000293648.4_Missense_Mutation_p.T314M|ZNF562_ENST00000453792.2_Missense_Mutation_p.T317M	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN	zinc finger protein 562	386					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.T314M(1)|p.T386M(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						TTGAGTAAGCGTTGAAGATCT	0.413													g|||	1	0.000199681	0.0	0.0	5008	,	,		21693	0.0		0.0	False		,,,				2504	0.001					ENST00000448622.1																			2	Substitution - Missense(2)	p.T314M(1)|p.T386M(1)	kidney(2)	NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(1156-1158)aCg>aTg		zinc finger protein 562							123.0	114.0	117.0					19																	9763749		2203	4300	6503	SO:0001583	missense	54811				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9763749G>A	AK000086	CCDS12217.1, CCDS45956.1, CCDS74280.1	19p13.2	2013-09-20			ENSG00000171466	ENSG00000171466		"""Zinc fingers, C2H2-type"", ""-"""	25950	protein-coding gene	gene with protein product							Standard	NM_001130031		Approved	FLJ20079	uc010xks.2	Q6V9R5	OTTHUMG00000180205	ENST00000448622.1:c.1157C>T	19.37:g.9763749G>A	ENSP00000411784:p.Thr386Met					ZNF562_ENST00000541032.1_Missense_Mutation_p.T349M|ZNF562_ENST00000453792.2_Missense_Mutation_p.T317M|ZNF562_ENST00000537617.1_Missense_Mutation_p.T270M|ZNF562_ENST00000590155.1_Missense_Mutation_p.T385M|ZNF562_ENST00000453372.2_Missense_Mutation_p.T386M|ZNF562_ENST00000293648.4_Missense_Mutation_p.T314M	p.T386M	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN			6	1319	-			386					Q32MN2|Q9NXS5	Missense_Mutation	SNP	ENST00000448622.1	37	c.1157C>T	CCDS45956.1	.	.	.	.	.	.	.	.	.	.	G	9.749	1.166973	0.21621	.	.	ENSG00000171466	ENST00000453372;ENST00000448622;ENST00000293648;ENST00000541032;ENST00000453792;ENST00000537617	T;T;T;T;T;T	0.01034	5.42;5.42;5.42;5.42;5.42;5.42	1.52	-0.932	0.10435	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01558	0.0050	L	0.39397	1.21	0.09310	N	1	P;D;D;D;P	0.58620	0.948;0.983;0.963;0.983;0.954	P;P;B;P;P	0.55055	0.636;0.767;0.285;0.616;0.653	T	0.49523	-0.8931	9	0.54805	T	0.06	.	2.8104	0.05440	0.0:0.3423:0.2785:0.3792	.	270;385;349;386;314	F5H1B4;B4DMG0;B4DZP9;Q6V9R5;Q6V9R5-2	.;.;.;ZN562_HUMAN;.	M	386;386;314;349;317;270	ENSP00000410734:T386M;ENSP00000411784:T386M;ENSP00000293648:T314M;ENSP00000442614:T349M;ENSP00000440451:T317M;ENSP00000445816:T270M	ENSP00000293648:T314M	T	-	2	0	ZNF562	9624749	0.000000	0.05858	0.000000	0.03702	0.068000	0.16541	-3.187000	0.00566	-0.187000	0.10516	0.313000	0.20887	ACG		0.413	ZNF562-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450239.1	NM_017656		31	96	0	0	0	1	0	31	96				
SPEF1	25876	broad.mit.edu	37	20	3759999	3759999	+	Splice_Site	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr20:3759999C>T	ENST00000379756.3	-	3	382	c.222G>A	c.(220-222)agG>agA	p.R74R	SPEF1_ENST00000463490.1_5'UTR	NM_015417.4	NP_056232.2	Q9Y4P9	SPEF1_HUMAN	sperm flagellar 1	74						axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8						TCAGTACCTTCCTGAGGGGTA	0.582																																						ENST00000379756.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8						c.e3-1		sperm flagellar 1							31.0	34.0	33.0					20																	3759999		2006	4174	6180	SO:0001630	splice_region_variant	25876					cilium axoneme|cytoplasm|cytoskeleton		g.chr20:3759999C>T	AL080154	CCDS13063.2	20p13	2013-09-23	2007-08-20	2007-08-20	ENSG00000101222	ENSG00000101222			15874	protein-coding gene	gene with protein product		610674	"""chromosome 20 open reading frame 28"""	C20orf28		15979255	Standard	NM_015417		Approved	DKFZP434I114, SPEF1A	uc002wjj.3	Q9Y4P9	OTTHUMG00000031756	ENST00000379756.3:c.222-1G>A	20.37:g.3759999C>T						SPEF1_ENST00000463490.1_5'UTR	p.R74_splice	NM_015417.4	NP_056232.2	Q9Y4P9	SPEF1_HUMAN			3	382	-			74					A5YM71|D3DVY0|Q5JX78	Splice_Site	SNP	ENST00000379756.3	37	c.221_splice	CCDS13063.2																																																																																				0.582	SPEF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077760.2		Silent	5	10	0	0	0	1	0	5	10				
GLMN	11146	broad.mit.edu	37	1	92763077	92763077	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr1:92763077C>G	ENST00000370360.3	-	3	130	c.49G>C	c.(49-51)Gaa>Caa	p.E17Q	RPAP2_ENST00000610020.1_5'Flank|GLMN_ENST00000534881.1_Missense_Mutation_p.E17Q	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	17					muscle cell differentiation (GO:0042692)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of T cell proliferation (GO:0042130)|neural tube closure (GO:0001843)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of phosphorylation (GO:0042327)|regulation of gene expression, epigenetic (GO:0040029)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|vasculogenesis (GO:0001570)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul3-RING ubiquitin ligase complex (GO:0031463)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|cullin-RING ubiquitin ligase complex (GO:0031461)|intracellular (GO:0005622)	hepatocyte growth factor receptor binding (GO:0005171)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase inhibitor activity (GO:0055105)			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		TCTTGCTCTTCTAGGATTTGC	0.303									Multiple Glomus Tumors (of the Skin), Familial																													ENST00000370360.3																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17						c.(49-51)Gaa>Caa		glomulin, FKBP associated protein							91.0	93.0	93.0					1																	92763077		2203	4300	6503	SO:0001583	missense	11146	Multiple Glomus Tumors (of the Skin), Familial	Familial Cancer Database	Multiple Familial Glomangiomas, Hereditary Multiple Glomus Tumors, Familial Multiple Glomangiomatosis, Inherited Cutaneous Venous Anomalies, incl. Familial Multiple Glomangiomyoma	muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding	g.chr1:92763077C>G	U73704	CCDS738.1	1p22.1	2008-02-05	2004-07-01		ENSG00000174842	ENSG00000174842			14373	protein-coding gene	gene with protein product		601749	"""venous malformation with glomus cells"""	VMGLOM		8955134	Standard	XM_005270400		Approved	FAP48, GLML, GVM, FKBPAP	uc001dor.3	Q92990	OTTHUMG00000010283	ENST00000370360.3:c.49G>C	1.37:g.92763077C>G	ENSP00000359385:p.Glu17Gln					GLMN_ENST00000534881.1_Missense_Mutation_p.E17Q	p.E17Q	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)	3	130	-		all_lung(203;0.00827)|Lung NSC(277;0.0295)	17					Q5VVC3|Q9BVE8	Missense_Mutation	SNP	ENST00000370360.3	37	c.49G>C	CCDS738.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.930609	0.52866	.	.	ENSG00000174842	ENST00000370360;ENST00000534881	T;T	0.42513	0.97;0.97	5.26	5.26	0.73747	.	0.578401	0.19546	N	0.111691	T	0.24470	0.0593	L	0.48362	1.52	0.29916	N	0.823147	B;B	0.20459	0.045;0.036	B;B	0.28991	0.097;0.066	T	0.10019	-1.0648	10	0.39692	T	0.17	-1.473	13.814	0.63281	0.153:0.847:0.0:0.0	.	17;17	B4DJ85;Q92990	.;GLMN_HUMAN	Q	17	ENSP00000359385:E17Q;ENSP00000440156:E17Q	ENSP00000359385:E17Q	E	-	1	0	GLMN	92535665	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.202000	0.32271	2.439000	0.82584	0.563000	0.77884	GAA		0.303	GLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028358.1	NM_007070		42	122	0	0	0	1	0	42	122				
RNF208	727800	broad.mit.edu	37	9	140115191	140115191	+	Silent	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr9:140115191G>A	ENST00000392827.1	-	2	642	c.474C>T	c.(472-474)cgC>cgT	p.R158R	RNF208_ENST00000391553.1_Silent_p.R158R			Q9H0X6	RN208_HUMAN	ring finger protein 208	158					protein autoubiquitination (GO:0051865)		ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			lung(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		AGGACAGCACGCGGGGCCTCC	0.672																																						ENST00000392827.1																			0				lung(1)	1						c.(472-474)cgC>cgT		ring finger protein 208							34.0	32.0	33.0					9																	140115191		2192	4291	6483	SO:0001819	synonymous_variant	727800						zinc ion binding	g.chr9:140115191G>A	AF416715	CCDS7037.2	9q34.3	2007-01-19				ENSG00000212864		"""RING-type (C3HC4) zinc fingers"""	25420	protein-coding gene	gene with protein product						11230166	Standard	NM_031297		Approved	DKFZP761H1710	uc004clz.2	Q9H0X6		ENST00000392827.1:c.474C>T	9.37:g.140115191G>A						RNF208_ENST00000391553.1_Silent_p.R158R	p.R158R			Q9H0X6	RN208_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	2	642	-	all_cancers(76;0.0926)		158					A2BFA0	Silent	SNP	ENST00000392827.1	37	c.474C>T	CCDS7037.2																																																																																				0.672	RNF208-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254714.1	NM_031297		11	34	0	0	0	1	0	11	34				
CACNA2D4	93589	broad.mit.edu	37	12	1902908	1902908	+	Silent	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr12:1902908G>A	ENST00000382722.5	-	38	3689	c.3327C>T	c.(3325-3327)tgC>tgT	p.C1109C	CACNA2D4_ENST00000538027.2_Silent_p.C254C|CACNA2D4_ENST00000538450.1_Silent_p.C239C|CACNA2D4_ENST00000587995.1_Silent_p.C1084C|CACNA2D4_ENST00000588077.1_Silent_p.C1045C	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	1109					calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		AGGCGCCGCCGCAGTCCTGGG	0.662																																					Colon(2;101 179 21030 23310 28141)	ENST00000382722.5																			0				endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(3325-3327)tgC>tgT		calcium channel, voltage-dependent, alpha 2/delta subunit 4							24.0	29.0	27.0					12																	1902908		1993	4168	6161	SO:0001819	synonymous_variant	93589					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr12:1902908G>A	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.3327C>T	12.37:g.1902908G>A						CACNA2D4_ENST00000538027.2_Silent_p.C254C|CACNA2D4_ENST00000588077.1_Silent_p.C1045C|CACNA2D4_ENST00000587995.1_Silent_p.C1084C|CACNA2D4_ENST00000538450.1_Silent_p.C239C	p.C1109C	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)	38	3689	-	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	1109					Q7Z3S8|Q86XZ5|Q8IZS9	Silent	SNP	ENST00000382722.5	37	c.3327C>T	CCDS44785.1																																																																																				0.662	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			6	27	0	0	0	1	0	6	27				
NAPSA	9476	broad.mit.edu	37	19	50861874	50861874	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr19:50861874C>T	ENST00000253719.2	-	9	1407	c.1199G>A	c.(1198-1200)cGc>cAc	p.R400H	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	400					membrane protein proteolysis (GO:0033619)|proteolysis (GO:0006508)|surfactant homeostasis (GO:0043129)	alveolar lamellar body (GO:0097208)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)|peptidase activity (GO:0008233)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		AGTGCGAGCGCGCGCCAGGCC	0.701																																						ENST00000253719.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						c.(1198-1200)cGc>cAc		napsin A aspartic peptidase							14.0	16.0	15.0					19																	50861874		2196	4288	6484	SO:0001583	missense	9476				proteolysis	extracellular region	aspartic-type endopeptidase activity	g.chr19:50861874C>T	AF090386	CCDS12794.1	19q13.33	2011-08-25				ENSG00000131400			13395	protein-coding gene	gene with protein product	"""kidney-derived aspartic protease-like protein"""	605631					Standard	NM_004851		Approved	NAP1, NAPA, Kdap, KAP	uc002prx.3	O96009		ENST00000253719.2:c.1199G>A	19.37:g.50861874C>T	ENSP00000253719:p.Arg400His					NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	p.R400H	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)	9	1407	-		all_neural(266;0.057)	400					Q8WWD9	Missense_Mutation	SNP	ENST00000253719.2	37	c.1199G>A	CCDS12794.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.350434	0.61183	.	.	ENSG00000131400	ENST00000253719	T	0.32515	1.45	3.38	2.33	0.28932	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.244559	0.40064	N	0.001186	T	0.48095	0.1481	M	0.76002	2.32	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.15838	-1.0423	10	0.62326	D	0.03	.	5.6209	0.17457	0.0:0.8468:0.0:0.1532	.	400	O96009	NAPSA_HUMAN	H	400	ENSP00000253719:R400H	ENSP00000253719:R400H	R	-	2	0	NAPSA	55553686	0.378000	0.25114	0.044000	0.18714	0.013000	0.08279	1.918000	0.40006	1.815000	0.52974	0.467000	0.42956	CGC		0.701	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464714.1	NM_004851		4	22	0	0	0	1	0	4	22				
NOTCH1	4851	broad.mit.edu	37	9	139413976	139413976	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr9:139413976G>C	ENST00000277541.6	-	5	859	c.784C>G	c.(784-786)Cca>Gca	p.P262A	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	262	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TTGTTTCCTGGACAATCGTCG	0.632			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(784-786)Cca>Gca		notch 1							114.0	137.0	130.0					9																	139413976		2044	4186	6230	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139413976G>C	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.784C>G	9.37:g.139413976G>C	ENSP00000277541:p.Pro262Ala	HNSCC(8;0.001)					p.P262A	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	5	859	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	262			EGF-like 7; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.784C>G	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.664014	0.67700	.	.	ENSG00000148400	ENST00000277541	T	0.74526	-0.85	5.22	5.22	0.72569	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.62974	0.2472	N	0.01505	-0.83	0.80722	D	1	P	0.51791	0.948	P	0.60068	0.868	T	0.65800	-0.6080	10	0.13108	T	0.6	.	16.2442	0.82434	0.0:0.0:1.0:0.0	.	262	P46531	NOTC1_HUMAN	A	262	ENSP00000277541:P262A	ENSP00000277541:P262A	P	-	1	0	NOTCH1	138533797	1.000000	0.71417	0.695000	0.30226	0.043000	0.13939	9.651000	0.98493	2.438000	0.82558	0.561000	0.74099	CCA		0.632	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		34	158	0	0	0	1	0	34	158				
PCDHB12	56124	broad.mit.edu	37	5	140590536	140590536	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr5:140590536T>A	ENST00000239450.2	+	1	2246	c.2057T>A	c.(2056-2058)cTc>cAc	p.L686H	PCDHB13_ENST00000341948.4_5'Flank|PCDHB12_ENST00000541609.1_Missense_Mutation_p.L349H	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	686					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCGACTCGCTCACTGTCTAC	0.701																																						ENST00000239450.2																			0				NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83						c.(2056-2058)cTc>cAc									72.0	77.0	75.0					5																	140590536		2203	4296	6499	SO:0001583	missense	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140590536T>A	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.2057T>A	5.37:g.140590536T>A	ENSP00000239450:p.Leu686His					PCDHB12_ENST00000541609.1_Missense_Mutation_p.L349H	p.L686H	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2246	+			686					B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	c.2057T>A	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	t	26.4	4.730911	0.89390	.	.	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.59224	0.28;0.48	3.77	3.77	0.43336	.	.	.	.	.	T	0.72771	0.3502	H	0.98951	4.38	0.30535	N	0.767031	P	0.44090	0.826	B	0.41374	0.355	T	0.79087	-0.1947	9	0.87932	D	0	.	8.5369	0.33368	0.0:0.099:0.0:0.901	.	686	Q9Y5F1	PCDBC_HUMAN	H	349;686;306	ENSP00000440199:L349H;ENSP00000239450:L686H	ENSP00000239450:L686H	L	+	2	0	PCDHB12	140570720	0.870000	0.30015	0.157000	0.22605	0.833000	0.47200	4.605000	0.61119	1.494000	0.48533	0.392000	0.25879	CTC		0.701	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		124	53	0	0	0	1	0	124	53				
RPTN	126638	broad.mit.edu	37	1	152129040	152129040	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr1:152129040C>T	ENST00000316073.3	-	3	599	c.535G>A	c.(535-537)Gat>Aat	p.D179N		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	179	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TGGTGAGAATCTCTGTCTTGT	0.468																																						ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(535-537)Gat>Aat		repetin							503.0	430.0	452.0					1																	152129040		1568	3582	5150	SO:0001583	missense	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152129040C>T	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.535G>A	1.37:g.152129040C>T	ENSP00000317895:p.Asp179Asn						p.D179N	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	599	-			179			Gln-rich.		B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	c.535G>A	CCDS41397.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.510132	0.64522	.	.	ENSG00000215853	ENST00000316073	T	0.13538	2.58	5.17	-0.408	0.12381	.	1.889910	0.04094	U	0.311796	T	0.12433	0.0302	M	0.67953	2.075	0.09310	N	1	D	0.57899	0.981	P	0.57911	0.829	T	0.08472	-1.0720	10	0.36615	T	0.2	-1.0137	4.4349	0.11545	0.0:0.4096:0.3147:0.2756	.	179	Q6XPR3	RPTN_HUMAN	N	179	ENSP00000317895:D179N	ENSP00000317895:D179N	D	-	1	0	RPTN	150395664	0.000000	0.05858	0.001000	0.08648	0.042000	0.13812	-0.283000	0.08433	0.179000	0.19938	0.542000	0.68232	GAT		0.468	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		32	305	0	0	0	1	0	32	305				
HDAC4	9759	broad.mit.edu	37	2	240085500	240085500	+	Splice_Site	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr2:240085500C>T	ENST00000345617.3	-	6	1401	c.610G>A	c.(610-612)Ggg>Agg	p.G204R	HDAC4_ENST00000541256.1_Splice_Site_p.G173R|AC017028.1_ENST00000396489.1_5'Flank	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	204	Interaction with MEF2A.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CACACTTACCCGTACCAGTAG	0.562																																						ENST00000345617.3																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62						c.e6+1		histone deacetylase 4							110.0	113.0	112.0					2																	240085500		2203	4300	6503	SO:0001630	splice_region_variant	9759				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	g.chr2:240085500C>T	AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.611+1G>A	2.37:g.240085500C>T						HDAC4_ENST00000541256.1_Splice_Site_p.G173_splice	p.G204_splice	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)	6	1401	-		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)	204			Interaction with MEF2A.		Q9UND6	Splice_Site	SNP	ENST00000345617.3	37	c.611_splice	CCDS2529.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.530207	0.64860	.	.	ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000541256;ENST00000393621	T;T	0.02446	4.29;4.29	4.31	4.31	0.51392	.	0.191949	0.45126	N	0.000385	T	0.06690	0.0171	N	0.14661	0.345	0.80722	D	1	D;B;P;P;B;B	0.89917	1.0;0.216;0.581;0.921;0.084;0.084	D;B;B;B;B;B	0.91635	0.999;0.038;0.086;0.212;0.004;0.004	T	0.60480	-0.7255	9	.	.	.	.	17.1787	0.86849	0.0:1.0:0.0:0.0	.	199;87;173;173;172;204	B7Z8G5;F5H0Q9;F5H5W4;B7Z8I2;Q53SM2;P56524	.;.;.;.;.;HDAC4_HUMAN	R	204;87;173;87	ENSP00000264606:G204R;ENSP00000443057:G173R	.	G	-	1	0	HDAC4	239750437	0.998000	0.40836	1.000000	0.80357	0.955000	0.61496	3.457000	0.53007	2.124000	0.65301	0.655000	0.94253	GGG		0.562	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037	Missense_Mutation	19	73	0	0	0	1	0	19	73				
ZNF521	25925	broad.mit.edu	37	18	22806933	22806933	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr18:22806933C>G	ENST00000361524.3	-	4	1097	c.949G>C	c.(949-951)Gag>Cag	p.E317Q	ZNF521_ENST00000584787.1_Missense_Mutation_p.E97Q|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Missense_Mutation_p.E317Q	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	317					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TGGAAACTCTCAGAACAAATG	0.537			T	PAX5	ALL																																	ENST00000361524.3				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149						c.(949-951)Gag>Cag		zinc finger protein 521							121.0	110.0	114.0					18																	22806933		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22806933C>G	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.949G>C	18.37:g.22806933C>G	ENSP00000354794:p.Glu317Gln					ZNF521_ENST00000584787.1_Missense_Mutation_p.E97Q|ZNF521_ENST00000538137.2_Missense_Mutation_p.E317Q	p.E317Q	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			4	1097	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		317					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.949G>C	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.831468	0.32329	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.28069	1.63;1.63	6.02	6.02	0.97574	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.46908	0.1417	N	0.25789	0.76	0.45946	D	0.998779	D	0.89917	1.0	D	0.91635	0.999	T	0.38564	-0.9655	10	0.59425	D	0.04	-36.2929	20.5407	0.99260	0.0:1.0:0.0:0.0	.	317	Q96K83	ZN521_HUMAN	Q	317;351;317	ENSP00000354794:E317Q;ENSP00000382352:E317Q	ENSP00000354794:E317Q	E	-	1	0	ZNF521	21060931	1.000000	0.71417	0.966000	0.40874	0.998000	0.95712	7.487000	0.81328	2.865000	0.98341	0.655000	0.94253	GAG		0.537	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		21	39	0	0	0	1	0	21	39				
CDR1	1038	broad.mit.edu	37	X	139865995	139865995	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chrX:139865995C>T	ENST00000370532.2	-	1	728	c.537G>A	c.(535-537)tgG>tgA	p.W179*		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	179	5 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				TCCATGTCTTCCAGTAACCTC	0.433																																						ENST00000370532.2																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25						c.(535-537)tgG>tgA		cerebellar degeneration-related protein 1, 34kDa							147.0	148.0	148.0					X																	139865995		2203	4299	6502	SO:0001587	stop_gained	1038							g.chrX:139865995C>T		CCDS14670.1	Xq27.1	2013-06-13	2002-08-29		ENSG00000184258	ENSG00000184258			1798	protein-coding gene	gene with protein product	"""Cerebellar degeneration-related protein-1 (34kD)"""	302650	"""cerebellar degeneration-related protein (34kD)"""	CDR		2326268	Standard	NM_004065		Approved	CDR62A, CDR34	uc004fbg.1	P51861	OTTHUMG00000137398	ENST00000370532.2:c.537G>A	X.37:g.139865995C>T	ENSP00000359563:p.Trp179*						p.W179*	NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN			1	728	-	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)	179			5 X 6 AA approximate repeats.		Q5JXH6	Nonsense_Mutation	SNP	ENST00000370532.2	37	c.537G>A	CCDS14670.1	.	.	.	.	.	.	.	.	.	.	C	32	5.126850	0.94429	.	.	ENSG00000184258	ENST00000370532	.	.	.	4.48	1.61	0.23674	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.1165	0.14836	0.0:0.6145:0.1739:0.2117	.	.	.	.	X	179	.	.	W	-	3	0	CDR1	139693661	0.000000	0.05858	0.962000	0.40283	0.305000	0.27757	0.692000	0.25482	0.394000	0.25230	0.422000	0.28245	TGG		0.433	CDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058583.1	NM_004065		74	235	0	0	0	1	0	74	235				
FBP2	8789	broad.mit.edu	37	9	97333759	97333759	+	Silent	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr9:97333759G>A	ENST00000375337.3	-	4	618	c.552C>T	c.(550-552)ctC>ctT	p.L184L		NM_003837.2	NP_003828.2	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	184					carbohydrate metabolic process (GO:0005975)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	fructose 1,6-bisphosphate 1-phosphatase activity (GO:0042132)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				CAAGCATGAAGAGGTCCACGC	0.567																																						ENST00000375337.3																			0				endometrium(1)|large_intestine(3)|lung(5)	9						c.(550-552)ctC>ctT		fructose-1,6-bisphosphatase 2							95.0	82.0	86.0					9																	97333759		2203	4300	6503	SO:0001819	synonymous_variant	8789				fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding	g.chr9:97333759G>A	Y10812	CCDS6711.1	9q22.3	2012-08-13			ENSG00000130957	ENSG00000130957	3.1.3.11		3607	protein-coding gene	gene with protein product		603027				9678974	Standard	NM_003837		Approved		uc004auv.3	O00757	OTTHUMG00000020269	ENST00000375337.3:c.552C>T	9.37:g.97333759G>A							p.L184L	NM_003837.2	NP_003828.2	O00757	F16P2_HUMAN			4	618	-		Acute lymphoblastic leukemia(62;0.136)	184					Q17R39|Q6FI53	Silent	SNP	ENST00000375337.3	37	c.552C>T	CCDS6711.1																																																																																				0.567	FBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053189.1	NM_003837		18	51	0	0	0	1	0	18	51				
TTLL2	83887	broad.mit.edu	37	6	167754657	167754657	+	Silent	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr6:167754657G>A	ENST00000239587.5	+	3	1357	c.1269G>A	c.(1267-1269)gaG>gaA	p.E423E		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	423	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TAAGAAATGAGGGGAGAGAAG	0.433																																						ENST00000239587.5																			0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1267-1269)gaG>gaA		tubulin tyrosine ligase-like family, member 2							78.0	82.0	80.0					6																	167754657		2203	4300	6503	SO:0001819	synonymous_variant	83887				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr6:167754657G>A	AK093039	CCDS5301.1	6q27	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440		"""Tubulin tyrosine ligase-like family"""	21211	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 104"""	C6orf104		11054573	Standard	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	Q9BWV7	OTTHUMG00000016023	ENST00000239587.5:c.1269G>A	6.37:g.167754657G>A							p.E423E	NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	3	1357	+		Breast(66;7.8e-06)|Ovarian(120;0.024)	423			TTL.		B2RB11|B3KS77|Q7Z6R8|Q86X22	Silent	SNP	ENST00000239587.5	37	c.1269G>A	CCDS5301.1																																																																																				0.433	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043127.3	NM_031949		29	74	0	0	0	1	0	29	74				
ABCA2	20	broad.mit.edu	37	9	139904519	139904519	+	Silent	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr9:139904519G>A	ENST00000371605.3	-	41	6555	c.6408C>T	c.(6406-6408)gaC>gaT	p.D2136D	ABCA2_ENST00000265662.5_Silent_p.D2137D|ABCA2_ENST00000341511.6_Silent_p.D2137D			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	2136	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CGAACAGCGCGTCACACTGCG	0.697																																						ENST00000265662.5																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41						c.(6409-6411)gaC>gaT		ATP-binding cassette, sub-family A (ABC1), member 2							11.0	14.0	13.0					9																	139904519		2129	4204	6333	SO:0001819	synonymous_variant	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139904519G>A	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.6408C>T	9.37:g.139904519G>A						ABCA2_ENST00000371605.3_Silent_p.D2136D|ABCA2_ENST00000341511.6_Silent_p.D2137D	p.D2137D			Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	42	6558	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	2136			ABC transporter 2.		A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Silent	SNP	ENST00000371605.3	37	c.6411C>T																																																																																					0.697	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		3	11	0	0	0	1	0	3	11				
ZNF423	23090	broad.mit.edu	37	16	49670849	49670849	+	Silent	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr16:49670849G>A	ENST00000561648.1	-	4	2267	c.2214C>T	c.(2212-2214)caC>caT	p.H738H	ZNF423_ENST00000535559.1_Silent_p.H621H|ZNF423_ENST00000262383.2_Silent_p.H738H|ZNF423_ENST00000562520.1_Silent_p.H678H|ZNF423_ENST00000562871.1_Silent_p.H678H|ZNF423_ENST00000567169.1_Silent_p.H621H|ZNF423_ENST00000563137.2_Silent_p.H678H	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	738					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TCACCGCCAGGTGCACCTGGA	0.567																																						ENST00000561648.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89						c.(2212-2214)caC>caT		zinc finger protein 423							108.0	97.0	101.0					16																	49670849		2198	4300	6498	SO:0001819	synonymous_variant	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49670849G>A	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.2214C>T	16.37:g.49670849G>A						ZNF423_ENST00000567169.1_Silent_p.H621H|ZNF423_ENST00000262383.2_Silent_p.H738H|ZNF423_ENST00000562871.1_Silent_p.H678H|ZNF423_ENST00000562520.1_Silent_p.H678H|ZNF423_ENST00000563137.2_Silent_p.H678H|ZNF423_ENST00000535559.1_Silent_p.H621H	p.H738H	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN			4	2267	-		all_cancers(37;0.0155)	738					O94860|Q76N04|Q9NZ13	Silent	SNP	ENST00000561648.1	37	c.2214C>T	CCDS32445.1																																																																																				0.567	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		16	35	0	0	0	1	0	16	35				
PIKFYVE	200576	broad.mit.edu	37	2	209136285	209136285	+	Silent	SNP	T	T	C			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr2:209136285T>C	ENST00000264380.4	+	2	200	c.42T>C	c.(40-42)gcT>gcC	p.A14A	PIKFYVE_ENST00000407449.1_Silent_p.A14A|PIKFYVE_ENST00000392202.3_Silent_p.A14A|PIKFYVE_ENST00000308862.6_Silent_p.A14A	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	14					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TGGACTCTGCTAATGATTTGC	0.403																																						ENST00000264380.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						c.(40-42)gcT>gcC		phosphoinositide kinase, FYVE finger containing							268.0	256.0	260.0					2																	209136285		2203	4300	6503	SO:0001819	synonymous_variant	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209136285T>C	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.42T>C	2.37:g.209136285T>C						PIKFYVE_ENST00000308862.6_Silent_p.A14A|PIKFYVE_ENST00000407449.1_Silent_p.A14A|PIKFYVE_ENST00000392202.3_Silent_p.A14A	p.A14A	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN			2	200	+			14					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Silent	SNP	ENST00000264380.4	37	c.42T>C	CCDS2382.1																																																																																				0.403	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		66	161	0	0	0	1	0	66	161				
BCAT2	587	broad.mit.edu	37	19	49303334	49303334	+	Silent	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr19:49303334C>T	ENST00000316273.6	-	5	447	c.435G>A	c.(433-435)ctG>ctA	p.L145L	BCAT2_ENST00000545387.2_Silent_p.L53L|BCAT2_ENST00000599246.1_Silent_p.L53L|BCAT2_ENST00000402551.1_Silent_p.L105L|BCAT2_ENST00000598162.1_Silent_p.L145L|BCAT2_ENST00000597011.1_Silent_p.L105L	NM_001190.3	NP_001181.2	O15382	BCAT2_HUMAN	branched chain amino-acid transaminase 2, mitochondrial	145					branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|isoleucine catabolic process (GO:0006550)|leucine metabolic process (GO:0006551)|regulation of hormone levels (GO:0010817)|small molecule metabolic process (GO:0044281)|valine metabolic process (GO:0006573)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	branched-chain-amino-acid transaminase activity (GO:0004084)|L-isoleucine transaminase activity (GO:0052656)|L-leucine transaminase activity (GO:0052654)|L-valine transaminase activity (GO:0052655)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Isoleucine(DB00167)|L-Leucine(DB00149)	GGATGCACTCCAGCAACTCCA	0.657																																						ENST00000402551.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12						c.(313-315)ctG>ctA		branched chain amino-acid transaminase 2, mitochondrial	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)						45.0	49.0	48.0					19																	49303334		2203	4300	6503	SO:0001819	synonymous_variant	587					mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity	g.chr19:49303334C>T	U68418	CCDS12735.1, CCDS54290.1, CCDS74416.1	19q13.33	2013-09-20	2010-05-07		ENSG00000105552	ENSG00000105552	2.6.1.42		977	protein-coding gene	gene with protein product		113530	"""branched chain aminotransferase 2, mitochondrial"""	BCT2		9165094	Standard	NM_001190		Approved	BCAM	uc002pkr.3	O15382	OTTHUMG00000183327	ENST00000316273.6:c.435G>A	19.37:g.49303334C>T						BCAT2_ENST00000598162.1_Silent_p.L145L|BCAT2_ENST00000545387.2_Silent_p.L53L|BCAT2_ENST00000599246.1_Silent_p.L53L|BCAT2_ENST00000316273.6_Silent_p.L145L|BCAT2_ENST00000597011.1_Silent_p.L105L	p.L105L			O15382	BCAT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	6	935	-		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	145					B2RB87|O00269|Q96KG1|Q9BTB6|Q9BUU6	Silent	SNP	ENST00000316273.6	37	c.315G>A	CCDS12735.1																																																																																				0.657	BCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466202.1			10	54	0	0	0	1	0	10	54				
C1orf105	92346	broad.mit.edu	37	1	172414295	172414295	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr1:172414295G>A	ENST00000367727.4	+	2	302	c.104G>A	c.(103-105)aGa>aAa	p.R35K	PIGC_ENST00000344529.4_5'Flank|PIGC_ENST00000367728.1_5'Flank|PIGC_ENST00000484368.1_5'Flank|PIGC_ENST00000258324.1_5'Flank	NM_139240.3	NP_640333.3	O95561	CA105_HUMAN	chromosome 1 open reading frame 105	35										large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						AGCCTTCCCAGAAGGTAACCT	0.443																																						ENST00000367727.4																			0				large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						c.(103-105)aGa>aAa		chromosome 1 open reading frame 105							66.0	67.0	67.0					1																	172414295		2203	4300	6503	SO:0001583	missense	92346							g.chr1:172414295G>A	AL035295	CCDS1301.1, CCDS72983.1	1q24.3	2012-06-26			ENSG00000180999	ENSG00000180999			29591	protein-coding gene	gene with protein product						12477932	Standard	NM_139240		Approved		uc001gik.3	O95561	OTTHUMG00000034750	ENST00000367727.4:c.104G>A	1.37:g.172414295G>A	ENSP00000356700:p.Arg35Lys						p.R35K	NM_139240.3	NP_640333.3	O95561	CA105_HUMAN			2	302	+			35					Q8IY02	Missense_Mutation	SNP	ENST00000367727.4	37	c.104G>A	CCDS1301.1	.	.	.	.	.	.	.	.	.	.	G	1.807	-0.475655	0.04414	.	.	ENSG00000180999	ENST00000367727;ENST00000488100	T;T	0.29397	1.57;1.57	4.06	-1.16	0.09678	.	0.791118	0.11121	N	0.597455	T	0.04003	0.0112	N	0.04880	-0.145	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.43718	-0.9374	10	0.11794	T	0.64	-3.2028	8.2533	0.31739	0.4059:0.0:0.5941:0.0	.	35	O95561	CA105_HUMAN	K	35;6	ENSP00000356700:R35K;ENSP00000431442:R6K	ENSP00000356700:R35K	R	+	2	0	C1orf105	170680918	0.122000	0.22280	0.915000	0.36163	0.502000	0.33828	-0.354000	0.07681	-0.217000	0.10033	-0.302000	0.09304	AGA		0.443	C1orf105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084062.2	NM_139240		18	41	0	0	0	1	0	18	41				
FAT3	120114	broad.mit.edu	37	11	92543142	92543142	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr11:92543142C>G	ENST00000298047.6	+	12	9398	c.9381C>G	c.(9379-9381)aaC>aaG	p.N3127K	FAT3_ENST00000525166.1_Missense_Mutation_p.N2977K|FAT3_ENST00000409404.2_Missense_Mutation_p.N3127K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3127	Cadherin 28. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGAATGATAACCCCCCTGTGT	0.547										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(9379-9381)aaC>aaG		FAT atypical cadherin 3							77.0	79.0	78.0					11																	92543142		1936	4129	6065	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92543142C>G	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.9381C>G	11.37:g.92543142C>G	ENSP00000298047:p.Asn3127Lys	TCGA Ovarian(4;0.039)				FAT3_ENST00000525166.1_Missense_Mutation_p.N2977K|FAT3_ENST00000409404.2_Missense_Mutation_p.N3127K	p.N3127K			Q8TDW7	FAT3_HUMAN			12	9398	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3127			Cadherin 28.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.9381C>G		.	.	.	.	.	.	.	.	.	.	C	19.27	3.796019	0.70567	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.01705	4.68;4.68;4.68	5.16	-0.775	0.10988	.	.	.	.	.	T	0.11410	0.0278	H	0.97465	4.01	0.80722	D	1	D	0.63046	0.992	P	0.57152	0.814	T	0.09907	-1.0653	9	0.87932	D	0	.	8.9744	0.35926	0.0:0.4007:0.0:0.5993	.	3127	Q8TDW7-3	.	K	3127;3127;2977	ENSP00000298047:N3127K;ENSP00000387040:N3127K;ENSP00000432586:N2977K	ENSP00000298047:N3127K	N	+	3	2	FAT3	92182790	0.116000	0.22171	0.998000	0.56505	0.969000	0.65631	-0.299000	0.08254	-0.025000	0.13918	0.563000	0.77884	AAC		0.547	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		26	60	0	0	0	1	0	26	60				
RBM10	8241	broad.mit.edu	37	X	47034420	47034420	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chrX:47034420C>T	ENST00000377604.3	+	6	1247	c.505C>T	c.(505-507)Cag>Tag	p.Q169*	RBM10_ENST00000345781.6_Nonsense_Mutation_p.Q92*|RBM10_ENST00000329236.7_Nonsense_Mutation_p.Q92*	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	169	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						GTCTCCAGGTCAGAGCCGGGG	0.617																																					Melanoma(171;120 2705 19495 39241)	ENST00000377604.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						c.(505-507)Cag>Tag		RNA binding motif protein 10							81.0	69.0	73.0					X																	47034420		2203	4300	6503	SO:0001587	stop_gained	8241				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	g.chrX:47034420C>T	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.505C>T	X.37:g.47034420C>T	ENSP00000366829:p.Gln169*					RBM10_ENST00000468791.1_Intron|RBM10_ENST00000345781.6_Nonsense_Mutation_p.Q92*|RBM10_ENST00000329236.7_Nonsense_Mutation_p.Q92*	p.Q169*	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN			6	1247	+			169			RRM 1.		C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Nonsense_Mutation	SNP	ENST00000377604.3	37	c.505C>T	CCDS14274.1	.	.	.	.	.	.	.	.	.	.	C	39	7.717806	0.98450	.	.	ENSG00000182872	ENST00000377604;ENST00000329236;ENST00000345781	.	.	.	4.53	2.7	0.31948	.	0.153270	0.45126	D	0.000399	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-10.9695	6.4192	0.21734	0.0:0.5456:0.3524:0.102	.	.	.	.	X	169;92;92	.	ENSP00000328848:Q92X	Q	+	1	0	RBM10	46919364	0.975000	0.34042	0.998000	0.56505	0.876000	0.50452	0.472000	0.22116	0.300000	0.22699	-0.350000	0.07774	CAG		0.617	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676		9	56	0	0	0	1	0	9	56				
HECW2	57520	broad.mit.edu	37	2	197189708	197189708	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr2:197189708C>T	ENST00000260983.3	-	6	919	c.737G>A	c.(736-738)cGa>cAa	p.R246Q	HECW2_ENST00000409111.1_5'UTR	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	246	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TCTTACCTCTCGGTGCCAAAT	0.512																																						ENST00000260983.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						c.(736-738)cGa>cAa		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2							206.0	186.0	193.0					2																	197189708		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197189708C>T	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.737G>A	2.37:g.197189708C>T	ENSP00000260983:p.Arg246Gln					HECW2_ENST00000409111.1_5'UTR	p.R246Q	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN			6	919	-			246			C2.		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.737G>A	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	C	35	5.480430	0.96307	.	.	ENSG00000138411	ENST00000260983	T	0.29917	1.55	5.2	5.2	0.72013	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.192201	0.45867	D	0.000327	T	0.44265	0.1285	L	0.44542	1.39	0.44825	D	0.997834	D	0.71674	0.998	P	0.58660	0.843	T	0.08617	-1.0713	10	0.32370	T	0.25	.	18.9309	0.92564	0.0:1.0:0.0:0.0	.	246	Q9P2P5	HECW2_HUMAN	Q	246	ENSP00000260983:R246Q	ENSP00000260983:R246Q	R	-	2	0	HECW2	196897953	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.228000	0.78079	2.699000	0.92147	0.655000	0.94253	CGA		0.512	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		49	175	0	0	0	1	0	49	175				
KCNA3	3738	broad.mit.edu	37	1	111217012	111217012	+	Silent	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr1:111217012G>A	ENST00000369769.2	-	1	643	c.420C>T	c.(418-420)ttC>ttT	p.F140F		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	140					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	GGAGCGGGTCGAAGTACCTCA	0.642																																						ENST00000369769.2																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38						c.(418-420)ttC>ttT		potassium voltage-gated channel, shaker-related subfamily, member 3							56.0	65.0	62.0					1																	111217012		2203	4300	6503	SO:0001819	synonymous_variant	3738					voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111217012G>A	L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.420C>T	1.37:g.111217012G>A							p.F140F	NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	643	-		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	140					Q5VWN2	Silent	SNP	ENST00000369769.2	37	c.420C>T	CCDS828.2																																																																																				0.642	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		27	82	0	0	0	1	0	27	82				
KRTAP10-3	386682	broad.mit.edu	37	21	45978005	45978005	+	Silent	SNP	G	G	C			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr21:45978005G>C	ENST00000391620.1	-	1	638	c.594C>G	c.(592-594)ctC>ctG	p.L198L	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	198	18 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				kidney(1)|lung(4)|prostate(1)|skin(1)	7						TGGGGCGGCAGAGGAGGGACA	0.692																																						ENST00000391620.1																			0				kidney(1)|lung(4)|prostate(1)|skin(1)	7						c.(592-594)ctC>ctG		keratin associated protein 10-3							28.0	34.0	32.0					21																	45978005		2197	4294	6491	SO:0001819	synonymous_variant	386682					keratin filament		g.chr21:45978005G>C	AJ566383	CCDS42956.1	21q22.3	2007-10-05			ENSG00000212935	ENSG00000212935		"""Keratin associated proteins"""	22968	protein-coding gene	gene with protein product				KRTAP18-3			Standard	NM_198696		Approved	KAP10.3, KAP18.3	uc002zfj.1	P60369	OTTHUMG00000057628	ENST00000391620.1:c.594C>G	21.37:g.45978005G>C						TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	p.L198L	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN			1	638	-			198			18 X 5 AA repeats of C-C-X(3).		A3KN67|Q70LJ4	Silent	SNP	ENST00000391620.1	37	c.594C>G	CCDS42956.1																																																																																				0.692	KRTAP10-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128031.1			9	39	0	0	0	1	0	9	39				
KCTD1	284252	broad.mit.edu	37	18	24081100	24081100	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr18:24081100T>A	ENST00000408011.3	-	2	659	c.100A>T	c.(100-102)Att>Ttt	p.I34F	KCTD1_ENST00000579973.1_Missense_Mutation_p.I34F|KCTD1_ENST00000417602.1_Missense_Mutation_p.I642F|KCTD1_ENST00000317932.7_Missense_Mutation_p.I34F|KCTD1_ENST00000580059.1_Missense_Mutation_p.I34F	NM_001136205.2	NP_001129677.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	34	BTB.				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)			CCCACATCAATGTGGACAGGC	0.502																																						ENST00000417602.1																			0				endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12						c.(1924-1926)Att>Ttt		potassium channel tetramerization domain containing 1							238.0	205.0	217.0					18																	24081100		2203	4300	6503	SO:0001583	missense	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.chr18:24081100T>A	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.100A>T	18.37:g.24081100T>A	ENSP00000384367:p.Ile34Phe					KCTD1_ENST00000580059.1_Missense_Mutation_p.I34F|KCTD1_ENST00000579973.1_Missense_Mutation_p.I34F|KCTD1_ENST00000317932.7_Missense_Mutation_p.I34F|KCTD1_ENST00000408011.3_Missense_Mutation_p.I34F	p.I642F	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)		2	1923	-	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		34					A8K1F5	Missense_Mutation	SNP	ENST00000408011.3	37	c.1924A>T	CCDS11888.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.880606	0.91740	.	.	ENSG00000134504	ENST00000317932;ENST00000417602;ENST00000408011	T;T;T	0.50277	0.75;0.75;0.75	5.68	5.68	0.88126	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	T	0.65396	0.2687	L	0.60845	1.875	0.80722	D	1	D	0.63046	0.992	D	0.70487	0.969	T	0.68254	-0.5457	10	0.87932	D	0	.	15.9355	0.79704	0.0:0.0:0.0:1.0	.	34	Q719H9	KCTD1_HUMAN	F	34;642;34	ENSP00000314831:I34F;ENSP00000408405:I642F;ENSP00000384367:I34F	ENSP00000314831:I34F	I	-	1	0	KCTD1	22335098	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.621000	0.83083	2.179000	0.69175	0.459000	0.35465	ATT		0.502	KCTD1-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000446265.1	XM_209091		19	103	0	0	0	1	0	19	103				
FAT1	2195	broad.mit.edu	37	4	187530425	187530425	+	Nonsense_Mutation	SNP	G	G	C	rs199995119		TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr4:187530425G>C	ENST00000441802.2	-	16	10327	c.10118C>G	c.(10117-10119)tCa>tGa	p.S3373*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3373	Cadherin 31. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATCTATAATTGAGTAGTGGAT	0.478										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(10117-10119)tCa>tGa		FAT atypical cadherin 1							126.0	120.0	122.0					4																	187530425		1936	4138	6074	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187530425G>C	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.10118C>G	4.37:g.187530425G>C	ENSP00000406229:p.Ser3373*	HNSCC(5;0.00058)					p.S3373*	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			16	10327	-			3373			Cadherin 31.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.10118C>G	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	51	18.035670	0.99898	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.35	5.35	0.76521	.	0.128026	0.56097	D	0.000039	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	19.0611	0.93093	0.0:0.0:1.0:0.0	.	.	.	.	X	3373;3375	.	ENSP00000260147:S3375X	S	-	2	0	FAT1	187767419	1.000000	0.71417	0.806000	0.32338	0.247000	0.25773	7.954000	0.87848	2.510000	0.84645	0.655000	0.94253	TCA		0.478	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		7	29	0	0	0	1	0	7	29				
TNS1	7145	broad.mit.edu	37	2	218682865	218682865	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr2:218682865G>A	ENST00000171887.4	-	24	4330	c.3878C>T	c.(3877-3879)gCc>gTc	p.A1293V	TNS1_ENST00000430930.1_Missense_Mutation_p.A1272V|TNS1_ENST00000419504.1_Missense_Mutation_p.A1280V	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1293					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TCCAGGGCTGGCTATTGCATT	0.657																																						ENST00000171887.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(3877-3879)gCc>gTc		tensin 1							22.0	22.0	22.0					2																	218682865		2203	4298	6501	SO:0001583	missense	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218682865G>A	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.3878C>T	2.37:g.218682865G>A	ENSP00000171887:p.Ala1293Val					TNS1_ENST00000419504.1_Missense_Mutation_p.A1280V|TNS1_ENST00000430930.1_Missense_Mutation_p.A1272V	p.A1293V	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	24	4330	-		Renal(207;0.0483)|Lung NSC(271;0.213)	1293					Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	c.3878C>T	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	G	0.156	-1.086323	0.01873	.	.	ENSG00000079308	ENST00000171887;ENST00000446688;ENST00000419504;ENST00000430930	D;T;D;D	0.90955	-2.76;2.28;-2.75;-2.76	4.83	1.91	0.25777	.	1.773650	0.02876	N	0.132298	T	0.80696	0.4672	N	0.04508	-0.205	0.09310	N	1	B;B;B	0.18461	0.001;0.001;0.028	B;B;B	0.14023	0.001;0.0;0.01	T	0.68243	-0.5460	10	0.32370	T	0.25	.	8.199	0.31413	0.0848:0.3286:0.5867:0.0	.	1293;1272;1280	Q9HBL0;E9PGF5;E9PF55	TENS1_HUMAN;.;.	V	1293;431;1280;1272	ENSP00000171887:A1293V;ENSP00000394171:A431V;ENSP00000408724:A1280V;ENSP00000406016:A1272V	ENSP00000171887:A1293V	A	-	2	0	TNS1	218391110	0.018000	0.18449	0.093000	0.20910	0.246000	0.25737	0.338000	0.19858	0.149000	0.19098	0.563000	0.77884	GCC		0.657	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		6	24	0	0	0	1	0	6	24				
EPHX4	253152	broad.mit.edu	37	1	92518079	92518079	+	Silent	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr1:92518079C>T	ENST00000370383.4	+	6	819	c.721C>T	c.(721-723)Ctg>Ttg	p.L241L		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	241						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TTTGAAACATCTGTTTACCAG	0.348																																					GBM(140;473 1857 5172 22066 49719)	ENST00000370383.4																			0				central_nervous_system(1)|large_intestine(3)|lung(8)	12						c.(721-723)Ctg>Ttg		epoxide hydrolase 4							58.0	55.0	56.0					1																	92518079		2203	4300	6503	SO:0001819	synonymous_variant	253152					integral to membrane	hydrolase activity	g.chr1:92518079C>T	AK074822	CCDS736.1	1p22.1	2011-10-05	2009-04-06	2009-04-06	ENSG00000172031	ENSG00000172031		"""Abhydrolase domain containing"""	23758	protein-coding gene	gene with protein product			"""abhydrolase domain containing 7"""	ABHD7		12477932	Standard	NM_173567		Approved	EPHXRP, FLJ90341	uc001don.2	Q8IUS5	OTTHUMG00000010114	ENST00000370383.4:c.721C>T	1.37:g.92518079C>T							p.L241L	NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN			6	819	+			241					Q8NCC6	Silent	SNP	ENST00000370383.4	37	c.721C>T	CCDS736.1																																																																																				0.348	EPHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027985.1	NM_173567		11	23	0	0	0	1	0	11	23				
PDE11A	50940	broad.mit.edu	37	2	178762845	178762845	+	Silent	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr2:178762845G>A	ENST00000286063.6	-	4	1559	c.1242C>T	c.(1240-1242)gcC>gcT	p.A414A	PDE11A_ENST00000409504.1_Silent_p.A56A|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000449286.2_Silent_p.A56A|PDE11A_ENST00000358450.4_Silent_p.A164A	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	414	GAF 2.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	GCAGAGTTTGGGCCCGATGCA	0.383									Primary Pigmented Nodular Adrenocortical Disease, Familial																													ENST00000286063.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58						c.(1240-1242)gcC>gcT		phosphodiesterase 11A							133.0	127.0	129.0					2																	178762845		2203	4300	6503	SO:0001819	synonymous_variant	50940	Primary Pigmented Nodular Adrenocortical Disease, Familial	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr2:178762845G>A	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.1242C>T	2.37:g.178762845G>A						PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000449286.2_Silent_p.A56A|PDE11A_ENST00000409504.1_Silent_p.A56A|PDE11A_ENST00000358450.4_Silent_p.A164A	p.A414A	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		4	1559	-			414			GAF 2.		Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Silent	SNP	ENST00000286063.6	37	c.1242C>T	CCDS33334.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.446611	0.25987	.	.	ENSG00000128655	ENST00000433879	.	.	.	5.99	0.916	0.19373	.	.	.	.	.	T	0.51652	0.1687	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34825	-0.9813	4	.	.	.	.	5.8134	0.18479	0.1821:0.0:0.4881:0.3298	.	.	.	.	L	53	.	.	P	-	2	0	PDE11A	178471091	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	1.090000	0.30902	-0.107000	0.12088	0.655000	0.94253	CCC		0.383	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2			29	76	0	0	0	1	0	29	76				
ALOX12	239	broad.mit.edu	37	17	6905055	6905055	+	Silent	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr17:6905055G>A	ENST00000251535.6	+	8	1139	c.1086G>A	c.(1084-1086)ctG>ctA	p.L362L	AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000399540.2_3'UTR|AC027763.2_ENST00000399541.2_Intron|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000574377.1_Intron	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	362	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				aging (GO:0007568)|arachidonic acid metabolic process (GO:0019369)|cellular component movement (GO:0006928)|cellular response to lipid (GO:0071396)|establishment of skin barrier (GO:0061436)|fatty acid oxidation (GO:0019395)|hepoxilin biosynthetic process (GO:0051122)|hepoxilin metabolic process (GO:0051121)|leukotriene A4 metabolic process (GO:1901751)|linoleic acid metabolic process (GO:0043651)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxin B4 biosynthetic process (GO:2001306)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of gene expression (GO:0010628)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|superoxide anion generation (GO:0042554)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcolemma (GO:0042383)	arachidonate 12-lipoxygenase activity (GO:0004052)|hepoxilin A3 synthase activity (GO:0051120)|hepoxilin-epoxide hydrolase activity (GO:0047977)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						ATCACTTGCTGAACACTCACC	0.532																																						ENST00000251535.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						c.(1084-1086)ctG>ctA		arachidonate 12-lipoxygenase							109.0	96.0	100.0					17																	6905055		2203	4300	6503	SO:0001819	synonymous_variant	239				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding	g.chr17:6905055G>A	M35418	CCDS11084.1	17p13.1	2010-01-14			ENSG00000108839	ENSG00000108839	1.13.11.31	"""Arachidonate lipoxygenases"""	429	protein-coding gene	gene with protein product	"""platelet 12-LOX"""	152391				1570320	Standard	NM_000697		Approved	12S-LOX	uc002gdx.4	P18054	OTTHUMG00000102088	ENST00000251535.6:c.1086G>A	17.37:g.6905055G>A						RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000574377.1_Intron|AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000399540.2_3'UTR|AC027763.2_ENST00000399541.2_Intron	p.L362L	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN			8	1139	+			362			Lipoxygenase.		O95569|Q6ISF8|Q9UQM4	Silent	SNP	ENST00000251535.6	37	c.1086G>A	CCDS11084.1																																																																																				0.532	ALOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219922.2			28	124	0	0	0	1	0	28	124				
CPN1	1369	broad.mit.edu	37	10	101816775	101816775	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr10:101816775C>T	ENST00000370418.3	-	6	1257	c.1006G>A	c.(1006-1008)Gaa>Aaa	p.E336K		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	336	Catalytic.				response to glucocorticoid (GO:0051384)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		TTTACCTGTTCCAGGAACTGG	0.478																																						ENST00000370418.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33						c.(1006-1008)Gaa>Aaa		carboxypeptidase N, polypeptide 1							171.0	179.0	176.0					10																	101816775		2203	4300	6503	SO:0001583	missense	1369				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:101816775C>T	X14329	CCDS7486.1	10q24.2	2012-02-10	2007-02-23		ENSG00000120054	ENSG00000120054	3.4.17.3		2312	protein-coding gene	gene with protein product	"""anaphylatoxin inactivator"", ""arginine carboxypeptidase"", ""carboxypeptidase K"", ""kininase I"", ""lysine carboxypeptidase"""	603103	"""carboxypeptidase N, polypeptide 1, 50kD"""			9628828, 2912725	Standard	NM_001308		Approved		uc001kql.2	P15169	OTTHUMG00000018896	ENST00000370418.3:c.1006G>A	10.37:g.101816775C>T	ENSP00000359446:p.Glu336Lys						p.E336K	NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)	6	1257	-		Colorectal(252;0.234)	336			Catalytic.		B1AP59	Missense_Mutation	SNP	ENST00000370418.3	37	c.1006G>A	CCDS7486.1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.725781	0.69074	.	.	ENSG00000120054	ENST00000370418;ENST00000441382	T;T	0.33654	3.95;1.4	4.46	4.46	0.54185	Peptidase M14, carboxypeptidase A (1);	0.102125	0.64402	D	0.000003	T	0.42630	0.1211	L	0.49640	1.575	0.80722	D	1	D	0.56035	0.974	P	0.48704	0.587	T	0.36187	-0.9758	10	0.41790	T	0.15	-9.2008	17.2998	0.87180	0.0:1.0:0.0:0.0	.	336	P15169	CBPN_HUMAN	K	336;133	ENSP00000359446:E336K;ENSP00000410895:E133K	ENSP00000359446:E336K	E	-	1	0	CPN1	101806765	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	7.445000	0.80570	2.302000	0.77476	0.455000	0.32223	GAA		0.478	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049828.1	NM_001308		79	189	0	0	0	1	0	79	189				
FBXO40	51725	broad.mit.edu	37	3	121341555	121341555	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr3:121341555G>C	ENST00000338040.4	+	3	1693	c.1279G>C	c.(1279-1281)Gcc>Ccc	p.A427P		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	427					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		CATGGATTTTGCCACACAAAC	0.512																																						ENST00000338040.4																			0				NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(1279-1281)Gcc>Ccc		F-box protein 40							104.0	104.0	104.0					3																	121341555		2203	4300	6503	SO:0001583	missense	51725				muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding	g.chr3:121341555G>C	AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"""F-boxes /  ""other"""""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.1279G>C	3.37:g.121341555G>C	ENSP00000337510:p.Ala427Pro						p.A427P	NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	3	1693	+			427					B2RAX7|Q32M70|Q9ULM5	Missense_Mutation	SNP	ENST00000338040.4	37	c.1279G>C	CCDS33835.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.024894	0.75390	.	.	ENSG00000163833	ENST00000338040	T	0.50001	0.76	5.73	5.73	0.89815	.	0.105548	0.64402	D	0.000004	T	0.64125	0.2570	L	0.50333	1.59	0.52099	D	0.999943	D	0.89917	1.0	D	0.70716	0.97	T	0.64689	-0.6348	10	0.72032	D	0.01	-15.296	17.4071	0.87476	0.0:0.0:1.0:0.0	.	427	Q9UH90	FBX40_HUMAN	P	427	ENSP00000337510:A427P	ENSP00000337510:A427P	A	+	1	0	FBXO40	122824245	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.476000	0.97823	2.721000	0.93114	0.655000	0.94253	GCC		0.512	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355158.1	NM_016298		35	99	0	0	0	1	0	35	99				
B4GALNT3	283358	broad.mit.edu	37	12	668506	668506	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr12:668506C>T	ENST00000266383.5	+	19	2820	c.2807C>T	c.(2806-2808)tCt>tTt	p.S936F		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	936					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			ATCTACAAGTCTGACCTGGAC	0.612																																						ENST00000266383.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(2806-2808)tCt>tTt		beta-1,4-N-acetyl-galactosaminyl transferase 3							129.0	134.0	132.0					12																	668506		2203	4300	6503	SO:0001583	missense	283358					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr12:668506C>T	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.2807C>T	12.37:g.668506C>T	ENSP00000266383:p.Ser936Phe						p.S936F	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		19	2820	+	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		936					Q6ZNC1|Q8N7T6	Missense_Mutation	SNP	ENST00000266383.5	37	c.2807C>T	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.720718	0.89205	.	.	ENSG00000139044	ENST00000266383	T	0.39056	1.1	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.71187	0.3310	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78445	-0.2201	10	0.87932	D	0	-10.5874	18.2881	0.90120	0.0:1.0:0.0:0.0	.	936	Q6L9W6	B4GN3_HUMAN	F	936	ENSP00000266383:S936F	ENSP00000266383:S936F	S	+	2	0	B4GALNT3	538767	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.724000	0.84798	2.383000	0.81215	0.462000	0.41574	TCT		0.612	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		34	88	0	0	0	1	0	34	88				
PRPF38A	84950	broad.mit.edu	37	1	52882357	52882357	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr1:52882357G>T	ENST00000257181.9	+	10	1120	c.934G>T	c.(934-936)Gag>Tag	p.E312*	PRPF38A_ENST00000474048.1_3'UTR	NM_032864.3	NP_116253.2	Q8NAV1	PR38A_HUMAN	pre-mRNA processing factor 38A	312					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			cervix(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|stomach(1)	9						GAGAGGGAATGAGTAATGGAC	0.448																																						ENST00000257181.9																			0				cervix(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|stomach(1)	9						c.(934-936)Gag>Tag		pre-mRNA processing factor 38A							86.0	87.0	87.0					1																	52882357		2203	4300	6503	SO:0001587	stop_gained	84950				mRNA processing|RNA splicing	spliceosomal complex		g.chr1:52882357G>T	AK092038	CCDS567.1	1p32.3	2013-10-03	2013-10-03		ENSG00000134748	ENSG00000134748			25930	protein-coding gene	gene with protein product			"""PRP38 pre-mRNA processing factor 38 (yeast) domain containing A"""			12477932	Standard	NM_032864		Approved	FLJ14936, Prp38	uc001ctw.4	Q8NAV1	OTTHUMG00000008199	ENST00000257181.9:c.934G>T	1.37:g.52882357G>T	ENSP00000257181:p.Glu312*					PRPF38A_ENST00000474048.1_3'UTR	p.E312*	NM_032864.3	NP_116253.2	Q8NAV1	PR38A_HUMAN			10	1120	+			312					Q96JW1|Q9BVZ8	Nonsense_Mutation	SNP	ENST00000257181.9	37	c.934G>T	CCDS567.1	.	.	.	.	.	.	.	.	.	.	G	36	5.944659	0.97134	.	.	ENSG00000134748	ENST00000257181	.	.	.	5.74	5.74	0.90152	.	0.227301	0.45361	D	0.000376	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.002	0.97417	0.0:0.0:1.0:0.0	.	.	.	.	X	312	.	ENSP00000257181:E312X	E	+	1	0	PRPF38A	52654945	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.208000	0.77907	2.731000	0.93534	0.644000	0.83932	GAG		0.448	PRPF38A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022459.2	NM_032864		8	44	1	0	0.000442599	1	0.000448725	8	44				
IFT52	51098	broad.mit.edu	37	20	42271216	42271216	+	Silent	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr20:42271216C>T	ENST00000373030.3	+	13	1348	c.1218C>T	c.(1216-1218)atC>atT	p.I406I	IFT52_ENST00000471199.1_3'UTR|IFT52_ENST00000373039.4_Silent_p.I406I	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52	406					cilium morphogenesis (GO:0060271)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube formation (GO:0001841)|regulation of protein processing (GO:0070613)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)	protein C-terminus binding (GO:0008022)			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CCAAACATATCCTTGAGCACG	0.458																																						ENST00000373030.3																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21						c.(1216-1218)atC>atT		intraflagellar transport 52 homolog (Chlamydomonas)							149.0	129.0	136.0					20																	42271216		2203	4300	6503	SO:0001819	synonymous_variant	51098					intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding	g.chr20:42271216C>T	AF151811	CCDS33470.1	20q12-q13.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000101052	ENSG00000101052		"""Intraflagellar transport homologs"""	15901	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 9"", ""intraflagellar transport 52 homolog (Chlamydomonas)"""	C20orf9		10810093	Standard	NM_016004		Approved	CGI-53, NGD5, dJ1028D15.1, NGD2	uc002xkw.3	Q9Y366	OTTHUMG00000032513	ENST00000373030.3:c.1218C>T	20.37:g.42271216C>T						IFT52_ENST00000471199.1_3'UTR|IFT52_ENST00000373039.4_Silent_p.I406I	p.I406I	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		13	1348	+		Myeloproliferative disorder(115;0.00452)	406					B3KMA1|E1P5W9|Q5H8Z0|Q9H1G3|Q9H1G4|Q9H1H2	Silent	SNP	ENST00000373030.3	37	c.1218C>T	CCDS33470.1																																																																																				0.458	IFT52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079317.1	NM_016004		17	41	0	0	0	1	0	17	41				
NDN	4692	broad.mit.edu	37	15	23932117	23932117	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr15:23932117G>A	ENST00000331837.4	-	1	333	c.248C>T	c.(247-249)cCg>cTg	p.P83L		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	83					axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GGCCGCGCTCGGGGCCTGGTG	0.761									Prader-Willi syndrome																													ENST00000331837.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39						c.(247-249)cCg>cTg		necdin, melanoma antigen (MAGE) family member							6.0	7.0	7.0					15																	23932117		1862	3742	5604	SO:0001583	missense	4692	Prader-Willi syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	g.chr15:23932117G>A	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"""Prader-Willi syndrome chromosome region"""	602117	"""necdin (mouse) homolog"", ""necdin homolog (mouse)"""			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.248C>T	15.37:g.23932117G>A	ENSP00000332643:p.Pro83Leu						p.P83L	NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)	1	333	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)	83					B2R6Z5	Missense_Mutation	SNP	ENST00000331837.4	37	c.248C>T	CCDS10014.1	.	.	.	.	.	.	.	.	.	.	G	1.083	-0.666264	0.03428	.	.	ENSG00000182636	ENST00000331837	T	0.02345	4.33	3.53	0.0779	0.14410	.	2.038860	0.03247	N	0.181253	T	0.01835	0.0058	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.45338	-0.9268	10	0.21540	T	0.41	.	4.4858	0.11788	0.1213:0.0:0.4517:0.427	.	83	Q99608	NECD_HUMAN	L	83	ENSP00000332643:P83L	ENSP00000332643:P83L	P	-	2	0	NDN	21483210	0.002000	0.14202	0.044000	0.18714	0.028000	0.11728	-0.657000	0.05335	-0.090000	0.12462	0.650000	0.86243	CCG		0.761	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2	NM_002487		15	17	0	0	0	1	0	15	17				
FDXACB1	91893	broad.mit.edu	37	11	111749793	111749793	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr11:111749793C>T	ENST00000260257.4	-	1	111	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K	ALG9_ENST00000524880.1_Missense_Mutation_p.E22K|ALG9_ENST00000527377.1_5'Flank|C11orf1_ENST00000529270.1_5'Flank|C11orf1_ENST00000528125.1_Intron|C11orf1_ENST00000530214.1_5'Flank|FDXACB1_ENST00000542429.1_5'UTR|C11orf1_ENST00000260276.3_5'Flank	NM_138378.2	NP_612387.1	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain containing 1	22					phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA processing (GO:0008033)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)			endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						TCCAGGGTTTCGCTCAGAGCG	0.667											OREG0021330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000524880.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(64-66)Gaa>Aaa		ALG9, alpha-1,2-mannosyltransferase							31.0	41.0	38.0					11																	111749793		1980	4174	6154	SO:0001583	missense	79796				dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity	g.chr11:111749793C>T		CCDS44729.1	11q23.1	2011-04-15			ENSG00000255561	ENSG00000255561			25110	protein-coding gene	gene with protein product	"""hypothetical protein BC006136"""						Standard	NR_038364		Approved	LOC91893, hCG_2033039	uc001pmc.4	Q9BRP7	OTTHUMG00000166795	ENST00000260257.4:c.64G>A	11.37:g.111749793C>T	ENSP00000260257:p.Glu22Lys		OREG0021330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1437	FDXACB1_ENST00000260257.4_Missense_Mutation_p.E22K|FDXACB1_ENST00000542429.1_5'UTR|C11orf1_ENST00000528125.1_Intron	p.E22K			Q9H6U8	ALG9_HUMAN		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)	1	356	-		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	322					A0PJW7|B4DUU2	Missense_Mutation	SNP	ENST00000260257.4	37	c.64G>A	CCDS44729.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.521522	0.64747	.	.	ENSG00000086848;ENSG00000255561	ENST00000428306;ENST00000260257	T	0.29142	1.58	6.17	2.89	0.33648	Domain of unknown function DUF2431 (1);	0.832552	0.11561	N	0.551681	T	0.25419	0.0618	L	0.38733	1.17	0.42855	D	0.99409	B	0.17268	0.021	B	0.17722	0.019	T	0.03706	-1.1011	10	0.62326	D	0.03	.	9.0504	0.36372	0.0:0.7268:0.0:0.2732	.	22	Q9BRP7	FDXA1_HUMAN	K	22	ENSP00000260257:E22K	ENSP00000387627:E22K	E	-	1	0	FDXACB1;ALG9	111255003	0.245000	0.23899	0.840000	0.33206	0.117000	0.20001	0.217000	0.17603	0.291000	0.22468	-0.345000	0.07892	GAA		0.667	FDXACB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391497.1	NM_138378		7	22	0	0	0	1	0	7	22				
CTSK	1513	broad.mit.edu	37	1	150778461	150778461	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr1:150778461C>G	ENST00000271651.3	-	4	385	c.275G>C	c.(274-276)gGa>gCa	p.G92A	CTSK_ENST00000480670.1_5'UTR	NM_000396.3	NP_000387.1	P43235	CATK_HUMAN	cathepsin K	92					bone resorption (GO:0045453)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|intramembranous ossification (GO:0001957)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|proteoglycan binding (GO:0043394)			cervix(1)|endometrium(1)|lung(4)|skin(1)	7	all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			TACTTTGAGTCCAGTCATCTT	0.493																																						ENST00000271651.3																			0				cervix(1)|endometrium(1)|lung(4)|skin(1)	7						c.(274-276)gGa>gCa		cathepsin K							104.0	99.0	101.0					1																	150778461		2203	4300	6503	SO:0001583	missense	1513				proteolysis	lysosome	cysteine-type endopeptidase activity|protein binding	g.chr1:150778461C>G	BC016058	CCDS969.1	1q21	2008-02-05	2006-12-05		ENSG00000143387	ENSG00000143387		"""Cathepsins"""	2536	protein-coding gene	gene with protein product		601105	"""cathepsin K (pycnodysostosis)"""	CTSO2, CTSO, PYCD		7818555	Standard	NM_000396		Approved	PKND	uc001evp.2	P43235	OTTHUMG00000035008	ENST00000271651.3:c.275G>C	1.37:g.150778461C>G	ENSP00000271651:p.Gly92Ala					CTSK_ENST00000480670.1_5'UTR	p.G92A	NM_000396.3	NP_000387.1	P43235	CATK_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)		4	385	-	all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185)		92					Q6FHS6	Missense_Mutation	SNP	ENST00000271651.3	37	c.275G>C	CCDS969.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.745053	0.89663	.	.	ENSG00000143387	ENST00000271651;ENST00000443913	D;D	0.97870	-4.58;-4.58	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.98760	0.9583	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.99525	1.0959	10	0.66056	D	0.02	.	16.9913	0.86354	0.0:1.0:0.0:0.0	.	92	P43235	CATK_HUMAN	A	92;151	ENSP00000271651:G92A;ENSP00000405083:G151A	ENSP00000271651:G92A	G	-	2	0	CTSK	149045085	1.000000	0.71417	0.997000	0.53966	0.965000	0.64279	7.722000	0.84778	2.683000	0.91414	0.561000	0.74099	GGA		0.493	CTSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084732.1	NM_000396		27	76	0	0	0	1	0	27	76				
C16orf71	146562	broad.mit.edu	37	16	4796395	4796395	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr16:4796395G>A	ENST00000299320.5	+	7	1541	c.1063G>A	c.(1063-1065)Ggc>Agc	p.G355S	C16orf71_ENST00000590191.1_Missense_Mutation_p.G369S|RP11-127I20.7_ENST00000588099.1_RNA	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	355										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						AAGGAAGCAGGGCTCCCAGGC	0.567																																						ENST00000299320.5																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						c.(1063-1065)Ggc>Agc		chromosome 16 open reading frame 71							51.0	53.0	52.0					16																	4796395		2197	4300	6497	SO:0001583	missense	146562							g.chr16:4796395G>A	AF447587	CCDS10521.1	16p13.3	2008-02-05			ENSG00000166246	ENSG00000166246			25081	protein-coding gene	gene with protein product						12477932	Standard	XM_005255144		Approved	FLJ43261, DKFZp686H2240	uc002cxn.3	Q8IYS4	OTTHUMG00000129480	ENST00000299320.5:c.1063G>A	16.37:g.4796395G>A	ENSP00000299320:p.Gly355Ser					RP11-127I20.7_ENST00000588099.1_RNA|C16orf71_ENST00000590191.1_Missense_Mutation_p.G369S	p.G355S	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN			7	1541	+			355					Q8NCV0	Missense_Mutation	SNP	ENST00000299320.5	37	c.1063G>A	CCDS10521.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.683170	0.29872	.	.	ENSG00000166246	ENST00000299320;ENST00000411541	T	0.06528	3.29	3.3	2.32	0.28847	.	0.511384	0.16461	N	0.213429	T	0.17450	0.0419	L	0.59436	1.845	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.02533	-1.1145	10	0.46703	T	0.11	-10.6397	8.5155	0.33244	0.0:0.238:0.762:0.0	.	355	Q8IYS4	CP071_HUMAN	S	355;110	ENSP00000299320:G355S	ENSP00000299320:G355S	G	+	1	0	C16orf71	4736396	0.584000	0.26766	0.072000	0.20136	0.010000	0.07245	2.315000	0.43752	0.936000	0.37367	0.561000	0.74099	GGC		0.567	C16orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251644.1	NM_139170		15	60	0	0	0	1	0	15	60				
DLEC1	9940	broad.mit.edu	37	3	38159466	38159466	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr3:38159466C>T	ENST00000308059.6	+	33	4676	c.4655C>T	c.(4654-4656)aCa>aTa	p.T1552I	DLEC1_ENST00000452631.2_Missense_Mutation_p.T1555I|DLEC1_ENST00000346219.3_Missense_Mutation_p.T1552I					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GAGGAGGAGACAGCCTCAGCG	0.617											OREG0015476	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000308059.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51						c.(4654-4656)aCa>aTa		deleted in lung and esophageal cancer 1							42.0	51.0	48.0					3																	38159466		2186	4284	6470	SO:0001583	missense	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38159466C>T	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.4655C>T	3.37:g.38159466C>T	ENSP00000308597:p.Thr1552Ile		OREG0015476	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	876	DLEC1_ENST00000346219.3_Missense_Mutation_p.T1552I|DLEC1_ENST00000452631.2_Missense_Mutation_p.T1555I	p.T1552I			Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	33	4676	+			1552						Missense_Mutation	SNP	ENST00000308059.6	37	c.4655C>T	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	C	9.936	1.216152	0.22373	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.05513	3.45;3.43;3.67	4.33	-5.73	0.02398	.	1.542390	0.03808	N	0.265402	T	0.04497	0.0123	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B	0.09022	0.002;0.002;0.001;0.001;0.002	B;B;B;B;B	0.08055	0.003;0.003;0.001;0.003;0.003	T	0.40194	-0.9576	10	0.37606	T	0.19	0.1547	6.703	0.23234	0.0:0.4097:0.199:0.3913	.	1555;1552;1552;1552;1552	F8W6T4;B1B5Y4;B7ZW06;Q9Y238-3;Q9Y238	.;.;.;.;DLEC1_HUMAN	I	1552;1552;1555	ENSP00000308597:T1552I;ENSP00000315914:T1552I;ENSP00000410427:T1555I	ENSP00000308597:T1552I	T	+	2	0	DLEC1	38134470	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	-0.509000	0.06336	-1.368000	0.02149	-0.266000	0.10368	ACA		0.617	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		10	43	0	0	0	1	0	10	43				
HDX	139324	broad.mit.edu	37	X	83588802	83588802	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chrX:83588802C>T	ENST00000297977.5	-	8	1900	c.1789G>A	c.(1789-1791)Gaa>Aaa	p.E597K	HDX_ENST00000506585.2_Missense_Mutation_p.E539K|HDX_ENST00000373177.2_Missense_Mutation_p.E597K	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	597						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TGTTCTACTTCAGAATTACTT	0.259																																					Pancreas(53;231 1169 36156 43751 51139)	ENST00000297977.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(1789-1791)Gaa>Aaa		highly divergent homeobox							65.0	61.0	62.0					X																	83588802		2188	4271	6459	SO:0001583	missense	139324					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:83588802C>T	BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"""Homeoboxes / POU class"""	26411	protein-coding gene	gene with protein product			"""chromosome X open reading frame 43"""	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.1789G>A	X.37:g.83588802C>T	ENSP00000297977:p.Glu597Lys					HDX_ENST00000506585.2_Missense_Mutation_p.E539K|HDX_ENST00000373177.2_Missense_Mutation_p.E597K	p.E597K	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN			8	1900	-			597					A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Missense_Mutation	SNP	ENST00000297977.5	37	c.1789G>A	CCDS35342.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.024533	0.75390	.	.	ENSG00000165259	ENST00000297977;ENST00000373177;ENST00000506585	T;T;T	0.35421	1.33;1.31;1.33	4.79	4.79	0.61399	.	0.063732	0.64402	D	0.000004	T	0.47746	0.1462	L	0.29908	0.895	0.41162	D	0.986108	D	0.63880	0.993	D	0.70935	0.971	T	0.52071	-0.8624	10	0.72032	D	0.01	-22.1909	15.1966	0.73096	0.0:1.0:0.0:0.0	.	597	Q7Z353	HDX_HUMAN	K	597;539;597	ENSP00000297977:E597K;ENSP00000362272:E539K;ENSP00000423670:E597K	ENSP00000297977:E597K	E	-	1	0	HDX	83475458	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	4.472000	0.60189	2.128000	0.65567	0.523000	0.50628	GAA		0.259	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657		8	14	0	0	0	1	0	8	14				
IDUA	3425	broad.mit.edu	37	4	996115	996115	+	Missense_Mutation	SNP	C	C	T	rs202191662	byFrequency	TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr4:996115C>T	ENST00000247933.4	+	8	1119	c.1031C>T	c.(1030-1032)gCg>gTg	p.A344V	IDUA_ENST00000514224.1_Missense_Mutation_p.A212V|IDUA_ENST00000453894.1_Missense_Mutation_p.A366V	NM_000203.3	NP_000194.2	P35475	IDUA_HUMAN	iduronidase, alpha-L-	344					carbohydrate metabolic process (GO:0005975)|cell morphogenesis (GO:0000902)|chemical homeostasis (GO:0048878)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate catabolic process (GO:0030209)|disaccharide metabolic process (GO:0005984)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|limb morphogenesis (GO:0035108)|lysosome organization (GO:0007040)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)	coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	L-iduronidase activity (GO:0003940)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TTCCCCTACGCGCTCCTGAGC	0.687																																						ENST00000453894.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						c.(1096-1098)gCg>gTg		iduronidase, alpha-L-	Laronidase(DB00090)						64.0	67.0	66.0					4																	996115		2201	4298	6499	SO:0001583	missense	3425				disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity	g.chr4:996115C>T	M74715	CCDS3343.1	4p16.3	2012-10-02			ENSG00000127415	ENSG00000127415	3.2.1.76		5391	protein-coding gene	gene with protein product		252800				1832239	Standard	NM_000203		Approved	MPS1	uc003gby.3	P35475	OTTHUMG00000088901	ENST00000247933.4:c.1031C>T	4.37:g.996115C>T	ENSP00000247933:p.Ala344Val					IDUA_ENST00000247933.4_Missense_Mutation_p.A344V|IDUA_ENST00000514224.1_Missense_Mutation_p.A212V	p.A366V			P35475	IDUA_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		5	1185	+			344		T -> P (in MPS1H).			B3KWK6	Missense_Mutation	SNP	ENST00000247933.4	37	c.1097C>T	CCDS3343.1	.	.	.	.	.	.	.	.	.	.	c	7.919	0.738173	0.15574	.	.	ENSG00000127415	ENST00000247933;ENST00000453894;ENST00000514224	D;D;D	0.95272	-3.66;-3.21;-3.66	5.34	2.44	0.29823	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.890661	0.09682	N	0.769645	D	0.89230	0.6656	L	0.33485	1.01	0.09310	N	1	B;B	0.25169	0.119;0.015	B;B	0.17722	0.019;0.004	T	0.77879	-0.2423	10	0.29301	T	0.29	-0.2617	8.2572	0.31763	0.0:0.6166:0.2969:0.0865	.	366;344	B3KWK6;P35475	.;IDUA_HUMAN	V	344;366;212	ENSP00000247933:A344V;ENSP00000396458:A366V;ENSP00000425081:A212V	ENSP00000247933:A344V	A	+	2	0	IDUA	986115	0.000000	0.05858	0.040000	0.18447	0.130000	0.20726	0.628000	0.24522	0.580000	0.29522	0.556000	0.70494	GCG		0.687	IDUA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000201812.1	NM_000203		8	13	0	0	0	1	0	8	13				
ATM	472	broad.mit.edu	37	11	108206680	108206680	+	Missense_Mutation	SNP	A	A	G	rs587781414		TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr11:108206680A>G	ENST00000452508.2	+	57	8449	c.8260A>G	c.(8260-8262)Act>Gct	p.T2754A	ATM_ENST00000278616.4_Missense_Mutation_p.T2754A|C11orf65_ENST00000525729.1_Intron			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2754	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	AACTATCTGTACTTATAAGGT	0.378			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(8260-8262)Act>Gct	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							110.0	104.0	106.0					11																	108206680		2201	4298	6499	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108206680A>G	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8260A>G	11.37:g.108206680A>G	ENSP00000388058:p.Thr2754Ala	TSP Lung(14;0.12)				C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.T2754A	p.T2754A	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	56	8645	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2754			PI3K/PI4K.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.8260A>G	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	A	15.87	2.960692	0.53400	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.77620	-1.11;-1.11	5.56	5.56	0.83823	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.048359	0.85682	D	0.000000	D	0.87613	0.6221	M	0.92833	3.35	0.80722	D	1	P	0.50066	0.931	P	0.51657	0.676	D	0.90064	0.4158	10	0.54805	T	0.06	.	15.7045	0.77565	1.0:0.0:0.0:0.0	.	2754	Q13315	ATM_HUMAN	A	2754	ENSP00000278616:T2754A;ENSP00000388058:T2754A	ENSP00000278616:T2754A	T	+	1	0	ATM	107711890	1.000000	0.71417	0.998000	0.56505	0.824000	0.46624	4.977000	0.63792	2.125000	0.65367	0.533000	0.62120	ACT		0.378	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		11	34	0	0	0	1	0	11	34				
USP9X	8239	broad.mit.edu	37	X	41002598	41002598	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chrX:41002598C>T	ENST00000324545.8	+	10	1849	c.1216C>T	c.(1216-1218)Cag>Tag	p.Q406*	USP9X_ENST00000378308.2_Nonsense_Mutation_p.Q406*	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	406					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TAGTCTTCATCAGCCACAGTA	0.353																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(1216-1218)Cag>Tag		ubiquitin specific peptidase 9, X-linked							61.0	55.0	57.0					X																	41002598		1998	4200	6198	SO:0001587	stop_gained	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41002598C>T	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.1216C>T	X.37:g.41002598C>T	ENSP00000316357:p.Gln406*					USP9X_ENST00000378308.2_Nonsense_Mutation_p.Q406*	p.Q406*	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			10	1849	+			406					O75550|Q8WWT3|Q8WX12	Nonsense_Mutation	SNP	ENST00000324545.8	37	c.1216C>T	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	C	38	6.863752	0.97893	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	18.1174	0.89561	0.0:1.0:0.0:0.0	.	.	.	.	X	406	.	ENSP00000316357:Q406X	Q	+	1	0	USP9X	40887542	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	7.442000	0.80503	2.304000	0.77564	0.415000	0.27848	CAG		0.353	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		20	45	0	0	0	1	0	20	45				
TMEM35	59353	broad.mit.edu	37	X	100334029	100334029	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chrX:100334029C>T	ENST00000372930.4	+	1	321	c.38C>T	c.(37-39)tCa>tTa	p.S13L	TRMT2B-AS1_ENST00000443801.2_RNA	NM_021637.2	NP_067650.1	Q53FP2	TMM35_HUMAN	transmembrane protein 35	13						cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|peroxisome (GO:0005777)				NS(1)|large_intestine(3)|liver(1)|skin(1)|urinary_tract(1)	7						GTGGCCCTCTCAGTGGCCCTG	0.557																																						ENST00000372930.4																			0				NS(1)|large_intestine(3)|liver(1)|skin(1)|urinary_tract(1)	7						c.(37-39)tCa>tTa		transmembrane protein 35							146.0	104.0	118.0					X																	100334029		2203	4300	6503	SO:0001583	missense	59353					cytoplasmic membrane-bounded vesicle|integral to membrane|peroxisomal membrane		g.chrX:100334029C>T	AK024146	CCDS14478.1	Xq22	2008-02-05			ENSG00000126950	ENSG00000126950			25864	protein-coding gene	gene with protein product							Standard	NM_021637		Approved	FLJ14084	uc004egw.3	Q53FP2	OTTHUMG00000022016	ENST00000372930.4:c.38C>T	X.37:g.100334029C>T	ENSP00000362021:p.Ser13Leu						p.S13L	NM_021637.2	NP_067650.1	Q53FP2	TMM35_HUMAN			1	321	+			13					Q9H7Y3	Missense_Mutation	SNP	ENST00000372930.4	37	c.38C>T	CCDS14478.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.484182	0.84854	.	.	ENSG00000126950	ENST00000372930;ENST00000444892	.	.	.	5.3	5.3	0.74995	.	0.132237	0.53938	D	0.000058	T	0.77731	0.4174	M	0.65975	2.015	0.80722	D	1	D	0.59357	0.985	D	0.69824	0.966	T	0.80417	-0.1391	9	0.87932	D	0	-0.6709	16.9634	0.86279	0.0:1.0:0.0:0.0	.	13	Q53FP2	TMM35_HUMAN	L	13	.	ENSP00000362021:S13L	S	+	2	0	TMEM35	100220685	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	7.228000	0.78079	2.212000	0.71576	0.534000	0.68092	TCA		0.557	TMEM35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057508.1	NM_021637		31	65	0	0	0	1	0	31	65				
TRBV6-1	28606	broad.mit.edu	37	7	142028415	142028415	+	RNA	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr7:142028415C>T	ENST00000390353.2	+	0	206									T cell receptor beta variable 6-1																		AACCATAACTCCATGTACTGG	0.507																																						ENST00000390353.2																			0																				160.0	149.0	152.0					7																	142028415		1948	4162	6110			28606							g.chr7:142028415C>T	X61446		7q34	2012-02-07			ENSG00000211706	ENSG00000211706		"""T cell receptors / TRB locus"""	12226	other	T cell receptor gene	"""T-cell receptor beta chain V region C5 -like"""					8650574	Standard	NG_001333		Approved	TRBV61, TCRBV13S3, TCRBV6S1			OTTHUMG00000158531		7.37:g.142028415C>T														0	206	+									RNA	SNP	ENST00000390353.2	37																																																																																						0.507	TRBV6-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351237.1	NG_001333		84	103	0	0	0	1	0	84	103				
DSC2	1824	broad.mit.edu	37	18	28666594	28666594	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr18:28666594G>C	ENST00000280904.6	-	7	1330	c.887C>G	c.(886-888)tCt>tGt	p.S296C	DSC2_ENST00000251081.6_Missense_Mutation_p.S296C	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	296	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TGGATGCATAGAAAATAGGGT	0.458																																						ENST00000280904.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21						c.(886-888)tCt>tGt		desmocollin 2							318.0	274.0	289.0					18																	28666594		2203	4300	6503	SO:0001583	missense	1824				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28666594G>C	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"""Cadherins / Major cadherins"""	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.887C>G	18.37:g.28666594G>C	ENSP00000280904:p.Ser296Cys					DSC2_ENST00000251081.6_Missense_Mutation_p.S296C	p.S296C	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		7	1330	-			296			Cadherin 2.			Missense_Mutation	SNP	ENST00000280904.6	37	c.887C>G	CCDS11892.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.553255	0.65425	.	.	ENSG00000134755	ENST00000251081;ENST00000280904;ENST00000438199;ENST00000399347	T;T	0.54675	0.56;0.56	5.61	3.83	0.44106	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.75125	0.3807	M	0.90814	3.15	0.31557	N	0.658024	D;D	0.76494	0.999;0.999	D;D	0.70016	0.964;0.967	T	0.79470	-0.1790	9	0.87932	D	0	.	11.5099	0.50488	0.1481:0.0:0.8519:0.0	.	296;296	Q02487;Q02487-2	DSC2_HUMAN;.	C	296;296;62;309	ENSP00000251081:S296C;ENSP00000280904:S296C	ENSP00000251081:S296C	S	-	2	0	DSC2	26920592	0.007000	0.16637	0.024000	0.17045	0.892000	0.51952	1.358000	0.34102	0.735000	0.32537	0.655000	0.94253	TCT		0.458	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949		27	97	0	0	0	1	0	27	97				
FOLH1B	219595	broad.mit.edu	37	11	89424200	89424200	+	RNA	SNP	G	G	C			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr11:89424200G>C	ENST00000532352.1	+	0	1663							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						CAATTCCATAGTGCTCCCTTT	0.378																																						ENST00000532352.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48								folate hydrolase 1B							56.0	52.0	54.0					11																	89424200		2201	4295	6496			219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89424200G>C	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89424200G>C										Q9HBA9	FOH1B_HUMAN			0	1663	+									RNA	SNP	ENST00000532352.1	37																																																																																						0.378	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		40	91	0	0	0	1	0	40	91				
PTPN13	5783	broad.mit.edu	37	4	87671739	87671739	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr4:87671739C>T	ENST00000411767.2	+	18	2830	c.2767C>T	c.(2767-2769)Cga>Tga	p.R923*	PTPN13_ENST00000316707.6_Intron|PTPN13_ENST00000511467.1_Nonsense_Mutation_p.R923*|PTPN13_ENST00000427191.2_Nonsense_Mutation_p.R923*|PTPN13_ENST00000436978.1_Nonsense_Mutation_p.R923*			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	923					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		ACTTGCTGTTCGACCTTTATC	0.468																																						ENST00000436978.1																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(2767-2769)Cga>Tga		protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)							91.0	91.0	91.0					4																	87671739		1968	4175	6143	SO:0001587	stop_gained	5783					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr4:87671739C>T		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.2767C>T	4.37:g.87671739C>T	ENSP00000407249:p.Arg923*					PTPN13_ENST00000316707.6_Intron|PTPN13_ENST00000511467.1_Nonsense_Mutation_p.R923*|PTPN13_ENST00000427191.2_Nonsense_Mutation_p.R923*|PTPN13_ENST00000411767.2_Nonsense_Mutation_p.R923*	p.R923*	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	18	3247	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	923					B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Nonsense_Mutation	SNP	ENST00000411767.2	37	c.2767C>T	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	C	45	11.674871	0.99589	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000411767;ENST00000511467;ENST00000357349	.	.	.	5.96	5.96	0.96718	.	0.000000	0.40908	D	0.000987	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.1703	0.72869	0.141:0.859:0.0:0.0	.	.	.	.	X	923;923;923;923;891	.	ENSP00000349909:R891X	R	+	1	2	PTPN13	87890763	0.997000	0.39634	1.000000	0.80357	0.992000	0.81027	2.492000	0.45311	2.831000	0.97527	0.650000	0.86243	CGA		0.468	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			35	95	0	0	0	1	0	35	95				
SLC13A3	64849	broad.mit.edu	37	20	45188731	45188731	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr20:45188731G>A	ENST00000279027.4	-	13	1757	c.1739C>T	c.(1738-1740)gCt>gTt	p.A580V	SLC13A3_ENST00000396360.1_Missense_Mutation_p.A498V|SLC13A3_ENST00000290317.5_Missense_Mutation_p.A533V|SLC13A3_ENST00000495082.1_Missense_Mutation_p.A533V|SLC13A3_ENST00000472148.1_Missense_Mutation_p.A498V|SLC13A3_ENST00000413164.2_Missense_Mutation_p.A530V|SLC13A3_ENST00000435032.1_Missense_Mutation_p.A165V	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	580					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	GTACATATCAGCCCAGTCCGG	0.562																																						ENST00000279027.4																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1738-1740)gCt>gTt		solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	Succinic acid(DB00139)						169.0	142.0	151.0					20																	45188731		2203	4300	6503	SO:0001583	missense	64849					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	g.chr20:45188731G>A	AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"""Solute carriers"""	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.1739C>T	20.37:g.45188731G>A	ENSP00000279027:p.Ala580Val					SLC13A3_ENST00000413164.2_Missense_Mutation_p.A530V|SLC13A3_ENST00000472148.1_Missense_Mutation_p.A498V|SLC13A3_ENST00000290317.5_Missense_Mutation_p.A533V|SLC13A3_ENST00000495082.1_Missense_Mutation_p.A533V|SLC13A3_ENST00000396360.1_Missense_Mutation_p.A498V|SLC13A3_ENST00000435032.1_Missense_Mutation_p.A165V	p.A580V	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN			13	1757	-		Myeloproliferative disorder(115;0.0122)	580					B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Missense_Mutation	SNP	ENST00000279027.4	37	c.1739C>T	CCDS13400.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.016609	0.54468	.	.	ENSG00000158296	ENST00000290317;ENST00000396360;ENST00000435032;ENST00000279027;ENST00000472148;ENST00000413164;ENST00000495082	T;T;T;T;T;T;T	0.37752	3.38;3.64;1.18;3.65;3.64;3.09;3.38	4.66	3.7	0.42460	.	0.051643	0.85682	D	0.000000	T	0.43255	0.1239	M	0.65975	2.015	0.80722	D	1	B;P;P;B;B;P	0.43662	0.35;0.732;0.814;0.325;0.338;0.488	B;B;P;B;B;B	0.48677	0.188;0.16;0.586;0.377;0.209;0.181	T	0.39121	-0.9629	10	0.66056	D	0.02	-18.1861	7.8707	0.29565	0.0806:0.0:0.7573:0.1621	.	530;165;498;533;482;580	B4DIR8;B4E181;Q8WWT9-3;F6WI18;B4DF27;Q8WWT9	.;.;.;.;.;S13A3_HUMAN	V	533;498;165;580;498;530;533	ENSP00000290317:A533V;ENSP00000379648:A498V;ENSP00000403394:A165V;ENSP00000279027:A580V;ENSP00000420177:A498V;ENSP00000415852:A530V;ENSP00000419621:A533V	ENSP00000279027:A580V	A	-	2	0	SLC13A3	44622138	1.000000	0.71417	0.975000	0.42487	0.185000	0.23345	9.259000	0.95561	1.137000	0.42214	-0.181000	0.13052	GCT		0.562	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2			24	112	0	0	0	1	0	24	112				
COL4A6	1288	broad.mit.edu	37	X	107403061	107403061	+	Intron	SNP	C	C	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chrX:107403061C>A	ENST00000372216.4	-	44	4629				COL4A6_ENST00000545689.1_Intron|COL4A6_ENST00000334504.7_Intron|COL4A6_ENST00000418180.1_Missense_Mutation_p.W16C|COL4A6_ENST00000394872.2_Intron|COL4A6_ENST00000538570.1_Intron	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6						cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TTACATCCAACCACTTGCACC	0.512									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	ENST00000418180.1																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						c.(46-48)tgG>tgT		collagen, type IV, alpha 6																																				SO:0001627	intron_variant	1288	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107403061C>A	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.4529-83G>T	X.37:g.107403061C>A						COL4A6_ENST00000394872.2_Intron|COL4A6_ENST00000545689.1_Intron|COL4A6_ENST00000372216.4_Intron|COL4A6_ENST00000538570.1_Intron|COL4A6_ENST00000334504.7_Intron	p.W16C			Q14031	CO4A6_HUMAN			1	138	-			0					Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	c.48G>T	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	C	3.529	-0.096233	0.07010	.	.	ENSG00000197565	ENST00000418180	D	0.95342	-3.68	4.36	1.48	0.22813	.	.	.	.	.	D	0.86460	0.5938	.	.	.	0.09310	N	0.999999	B	0.25235	0.121	B	0.21917	0.037	T	0.73467	-0.3973	7	.	.	.	.	1.7389	0.02948	0.2455:0.4611:0.1717:0.1217	.	16	B4DZ39	.	C	16	ENSP00000406002:W16C	.	W	-	3	0	COL4A6	107289717	0.000000	0.05858	0.002000	0.10522	0.032000	0.12392	-0.048000	0.11944	0.172000	0.19760	0.529000	0.55759	TGG		0.512	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			17	46	1	0	2.23348e-06	1	2.30426e-06	17	46				
MUC5B	727897	broad.mit.edu	37	11	1268526	1268526	+	Silent	SNP	T	T	G			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr11:1268526T>G	ENST00000529681.1	+	31	10474	c.10416T>G	c.(10414-10416)acT>acG	p.T3472T	MUC5B_ENST00000447027.1_Silent_p.T3475T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3472	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {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)				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)		CAGCCTGGACTTCGGCCACCT	0.667																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(10423-10425)acT>acG		mucin 5B, oligomeric mucus/gel-forming							62.0	87.0	79.0					11																	1268526		2109	4204	6313	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1268526T>G	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.10416T>G	11.37:g.1268526T>G						MUC5B_ENST00000529681.1_Silent_p.T3472T|RP11-532E4.2_ENST00000532061.2_RNA	p.T3475T			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	10483	+		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)	3472	Missing (in Ref. 6; AAB61398).		7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.10425T>G	CCDS44515.2																																																																																				0.667	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		19	48	0	0	0	1	0	19	48				
VPS13D	55187	broad.mit.edu	37	1	12395847	12395847	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr1:12395847G>A	ENST00000358136.3	+	39	8644	c.8514G>A	c.(8512-8514)tgG>tgA	p.W2838*	VPS13D_ENST00000356315.4_Nonsense_Mutation_p.W2838*	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CAGAAGACTGGATGGGCTCTT	0.408																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(8512-8514)tgG>tgA		vacuolar protein sorting 13 homolog D (S. cerevisiae)							129.0	126.0	127.0					1																	12395847		2203	4300	6503	SO:0001587	stop_gained	55187				protein localization			g.chr1:12395847G>A	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.8514G>A	1.37:g.12395847G>A	ENSP00000350854:p.Trp2838*					VPS13D_ENST00000356315.4_Nonsense_Mutation_p.W2838*	p.W2838*	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	39	8644	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	2838						Nonsense_Mutation	SNP	ENST00000358136.3	37	c.8514G>A	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	50|50	16.831058|16.831058	0.99873|0.99873	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|.	.|.	.|.	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	.|0.111138	.|0.64402	.|D	.|0.000003	T|.	0.76737|.	0.4029|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.73814|.	-0.3864|.	4|.	.|.	.|.	.|.	.|.	20.244|20.244	0.98389|0.98389	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	E|X	1661|2838	.|.	.|.	G|W	+|+	2|3	0|0	VPS13D|VPS13D	12318434|12318434	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.540000|7.540000	0.82074|0.82074	2.865000|2.865000	0.98341|0.98341	0.655000|0.655000	0.94253|0.94253	GGA|TGG		0.408	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		32	70	0	0	0	1	0	32	70				
PLXNB1	5364	broad.mit.edu	37	3	48456412	48456412	+	Silent	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr3:48456412G>A	ENST00000358536.4	-	21	4274	c.4005C>T	c.(4003-4005)atC>atT	p.I1335I	PLXNB1_ENST00000296440.6_Silent_p.I1335I|PLXNB1_ENST00000456774.1_Silent_p.I1152I|PLXNB1_ENST00000358459.4_Silent_p.I1152I|PLXNB1_ENST00000465117.1_5'UTR|PLXNB1_ENST00000448774.2_Intron	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1335	IPT/TIG 3.				axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGCGGCACGTGATGAGCTGGG	0.587																																						ENST00000358536.4																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(4003-4005)atC>atT		plexin B1							62.0	69.0	67.0					3																	48456412		2203	4300	6503	SO:0001819	synonymous_variant	5364				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	g.chr3:48456412G>A	X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.4005C>T	3.37:g.48456412G>A						PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000358459.4_Silent_p.I1152I|PLXNB1_ENST00000465117.1_5'UTR|PLXNB1_ENST00000296440.6_Silent_p.I1335I|PLXNB1_ENST00000456774.1_Silent_p.I1152I	p.I1335I	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	21	4274	-			1335			IPT/TIG 3.		A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Silent	SNP	ENST00000358536.4	37	c.4005C>T	CCDS2765.1																																																																																				0.587	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		34	67	0	0	0	1	0	34	67				
PSME4	23198	broad.mit.edu	37	2	54155351	54155351	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr2:54155351G>A	ENST00000404125.1	-	11	1461	c.1406C>T	c.(1405-1407)tCa>tTa	p.S469L	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	469					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)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TCTGCCTCCTGATACCAAACT	0.443																																						ENST00000404125.1																			0				breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60						c.(1405-1407)tCa>tTa		proteasome (prosome, macropain) activator subunit 4							122.0	107.0	112.0					2																	54155351		2203	4300	6503	SO:0001583	missense	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54155351G>A	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.1406C>T	2.37:g.54155351G>A	ENSP00000384211:p.Ser469Leu					PSME4_ENST00000421748.2_Intron	p.S469L	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		11	1461	-			469					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	ENST00000404125.1	37	c.1406C>T	CCDS33197.2	.	.	.	.	.	.	.	.	.	.	G	17.91	3.504773	0.64410	.	.	ENSG00000068878	ENST00000404125	T	0.04917	3.53	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.07052	0.0179	L	0.29908	0.895	0.80722	D	1	B	0.26002	0.139	B	0.19391	0.025	T	0.42241	-0.9463	10	0.25106	T	0.35	.	19.8824	0.96903	0.0:0.0:1.0:0.0	.	469	Q14997	PSME4_HUMAN	L	469	ENSP00000384211:S469L	ENSP00000374643:S469L	S	-	2	0	PSME4	54008855	1.000000	0.71417	0.994000	0.49952	0.983000	0.72400	6.515000	0.73751	2.694000	0.91930	0.586000	0.80456	TCA		0.443	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		6	47	0	0	0	1	0	6	47				
SI	6476	broad.mit.edu	37	3	164735626	164735626	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr3:164735626G>A	ENST00000264382.3	-	30	3618	c.3556C>T	c.(3556-3558)Cgt>Tgt	p.R1186C		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1186	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CCAACTGTACGGTAAGTTAGA	0.348										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(3556-3558)Cgt>Tgt		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						64.0	63.0	63.0					3																	164735626		2202	4300	6502	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164735626G>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3556C>T	3.37:g.164735626G>A	ENSP00000264382:p.Arg1186Cys	HNSCC(35;0.089)					p.R1186C	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			30	3618	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1186			Sucrase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.3556C>T	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.135611	0.77662	.	.	ENSG00000090402	ENST00000264382	D	0.86164	-2.08	4.91	4.91	0.64330	Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.85682	D	0.000000	D	0.94059	0.8096	H	0.95004	3.61	0.58432	D	0.999999	D	0.54964	0.969	P	0.53912	0.737	D	0.95710	0.8757	10	0.87932	D	0	.	18.2831	0.90104	0.0:0.0:1.0:0.0	.	1186	P14410	SUIS_HUMAN	C	1186	ENSP00000264382:R1186C	ENSP00000264382:R1186C	R	-	1	0	SI	166218320	1.000000	0.71417	0.972000	0.41901	0.962000	0.63368	5.113000	0.64640	2.540000	0.85666	0.491000	0.48974	CGT		0.348	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		21	36	0	0	0	1	0	21	36				
TRPM3	80036	broad.mit.edu	37	9	73233949	73233949	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr9:73233949G>A	ENST00000377111.2	-	16	2399	c.2156C>T	c.(2155-2157)gCc>gTc	p.A719V	TRPM3_ENST00000396280.5_Missense_Mutation_p.A568V|TRPM3_ENST00000377110.3_Missense_Mutation_p.A719V|TRPM3_ENST00000377105.1_Missense_Mutation_p.A578V|TRPM3_ENST00000360823.2_Missense_Mutation_p.A581V|TRPM3_ENST00000357533.2_Missense_Mutation_p.A723V|TRPM3_ENST00000408909.2_Missense_Mutation_p.A578V|TRPM3_ENST00000396292.4_Missense_Mutation_p.A591V|TRPM3_ENST00000396285.1_Missense_Mutation_p.A566V|TRPM3_ENST00000423814.3_Missense_Mutation_p.A746V|TRPM3_ENST00000377106.1_Missense_Mutation_p.A591V|TRPM3_ENST00000358082.3_Missense_Mutation_p.A581V	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	744					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CAGTTTCATGGCCAGCTGTTC	0.577																																						ENST00000377110.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(2155-2157)gCc>gTc		transient receptor potential cation channel, subfamily M, member 3							98.0	69.0	79.0					9																	73233949		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73233949G>A	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.2156C>T	9.37:g.73233949G>A	ENSP00000366315:p.Ala719Val					TRPM3_ENST00000377106.1_Missense_Mutation_p.A591V|TRPM3_ENST00000423814.3_Missense_Mutation_p.A746V|TRPM3_ENST00000377105.1_Missense_Mutation_p.A578V|TRPM3_ENST00000357533.2_Missense_Mutation_p.A723V|TRPM3_ENST00000358082.3_Missense_Mutation_p.A581V|TRPM3_ENST00000396280.5_Missense_Mutation_p.A568V|TRPM3_ENST00000377111.2_Missense_Mutation_p.A719V|TRPM3_ENST00000360823.2_Missense_Mutation_p.A581V|TRPM3_ENST00000408909.2_Missense_Mutation_p.A578V|TRPM3_ENST00000396292.4_Missense_Mutation_p.A591V|TRPM3_ENST00000396285.1_Missense_Mutation_p.A566V	p.A719V	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN			16	2399	-			744					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37	c.2156C>T		.	.	.	.	.	.	.	.	.	.	G	34	5.301544	0.95601	.	.	ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814	D;D;D;D;D;D;D;D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14	5.55	5.55	0.83447	.	0.111469	0.64402	D	0.000010	D	0.95765	0.8622	M	0.80847	2.515	0.80722	D	1	P;P;P;B;P;P;P;D	0.59357	0.618;0.889;0.865;0.282;0.484;0.868;0.744;0.985	P;P;P;B;B;P;B;P	0.59357	0.499;0.48;0.856;0.303;0.209;0.57;0.382;0.752	D	0.95734	0.8777	10	0.87932	D	0	-22.4901	19.6982	0.96039	0.0:0.0:1.0:0.0	.	719;719;709;723;581;578;691;566	Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	.;.;.;.;.;.;.;.	V	719;719;591;581;578;723;578;566;591;581;746	ENSP00000366315:A719V;ENSP00000366314:A719V;ENSP00000366310:A591V;ENSP00000354066:A581V;ENSP00000366309:A578V;ENSP00000350140:A723V;ENSP00000386127:A578V;ENSP00000379581:A566V;ENSP00000379587:A591V;ENSP00000350791:A581V;ENSP00000389542:A746V	ENSP00000350140:A723V	A	-	2	0	TRPM3	72423769	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.618000	0.98365	2.894000	0.99253	0.655000	0.94253	GCC		0.577	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		6	50	0	0	0	1	0	6	50				
MTM1	4534	broad.mit.edu	37	X	149809804	149809804	+	Silent	SNP	T	T	C			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chrX:149809804T>C	ENST00000370396.2	+	8	645	c.591T>C	c.(589-591)acT>acC	p.T197T	MTM1_ENST00000413012.2_Silent_p.T160T|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000542741.1_Silent_p.T102T|MTM1_ENST00000543350.1_Silent_p.T82T	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	197	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.		T -> I (in CNMX). {ECO:0000269|PubMed:12031625}.		endosome to lysosome transport (GO:0008333)|intermediate filament organization (GO:0045109)|mitochondrion distribution (GO:0048311)|mitochondrion morphogenesis (GO:0070584)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|protein transport (GO:0015031)|regulation of vacuole organization (GO:0044088)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	intermediate filament binding (GO:0019215)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					TCTGTGACACTTACCCTGCTC	0.433																																						ENST00000370396.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	GRCh37	CD972338	MTM1	D		c.(589-591)acT>acC		myotubularin 1							187.0	167.0	174.0					X																	149809804		2203	4300	6503	SO:0001819	synonymous_variant	4534				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	g.chrX:149809804T>C	U46024	CCDS14694.1	Xq27.3-q28	2014-09-17			ENSG00000171100	ENSG00000171100		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7448	protein-coding gene	gene with protein product		300415	"""myotubular myopathy 1"""				Standard	NM_000252		Approved		uc004fef.4	Q13496	OTTHUMG00000024158	ENST00000370396.2:c.591T>C	X.37:g.149809804T>C						MTM1_ENST00000413012.2_Silent_p.T160T|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Silent_p.T82T|MTM1_ENST00000542741.1_Silent_p.T102T	p.T197T	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN			8	645	+	Acute lymphoblastic leukemia(192;6.56e-05)		197		T -> I (in XCNM).	Myotubularin phosphatase.		A6NDB1|B7Z491|F2Z330|Q8NEL1	Silent	SNP	ENST00000370396.2	37	c.591T>C	CCDS14694.1																																																																																				0.433	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060847.3	NM_000252		28	102	0	0	0	1	0	28	102				
GRASP	160622	broad.mit.edu	37	12	52400976	52400976	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr12:52400976C>T	ENST00000293662.4	+	1	253	c.173C>T	c.(172-174)gCg>gTg	p.A58V		NM_181711.2	NP_859062.1	Q7Z6J2	GRASP_HUMAN	GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein	58					protein localization (GO:0008104)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2)	5				BRCA - Breast invasive adenocarcinoma(357;0.0967)		CTGTACGCGGCGCTGGAGGAC	0.761																																						ENST00000293662.4																			0				central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2)	5						c.(172-174)gCg>gTg		GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein							5.0	6.0	5.0					12																	52400976		1856	3939	5795	SO:0001583	missense	160622					cell junction|perinuclear region of cytoplasm|postsynaptic membrane		g.chr12:52400976C>T	AC019244	CCDS8817.1, CCDS61124.1	12q13.13	2011-09-02			ENSG00000161835	ENSG00000161835			18707	protein-coding gene	gene with protein product		612027				10828067	Standard	NM_001271856		Approved		uc001rzo.2	Q7Z6J2	OTTHUMG00000169595	ENST00000293662.4:c.173C>T	12.37:g.52400976C>T	ENSP00000293662:p.Ala58Val						p.A58V	NM_181711.2	NP_859062.1	Q7Z6J2	GRASP_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0967)	1	253	+			58					Q6PIF8|Q7Z741	Missense_Mutation	SNP	ENST00000293662.4	37	c.173C>T	CCDS8817.1	.	.	.	.	.	.	.	.	.	.	C	15.21	2.767164	0.49574	.	.	ENSG00000161835	ENST00000293662	T	0.56444	0.46	4.96	4.96	0.65561	.	0.362198	0.27686	N	0.018267	T	0.48502	0.1503	N	0.24115	0.695	0.80722	D	1	D	0.69078	0.997	P	0.52066	0.689	T	0.43393	-0.9394	10	0.34782	T	0.22	0.3121	13.7711	0.63026	0.0:1.0:0.0:0.0	.	58	Q7Z6J2	GRASP_HUMAN	V	58	ENSP00000293662:A58V	ENSP00000293662:A58V	A	+	2	0	GRASP	50687243	1.000000	0.71417	0.999000	0.59377	0.535000	0.34838	3.629000	0.54266	2.309000	0.77851	0.549000	0.68633	GCG		0.761	GRASP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404972.1			4	6	0	0	0	1	0	4	6				
FAM47B	170062	broad.mit.edu	37	X	34961045	34961045	+	Missense_Mutation	SNP	C	C	T	rs368344355		TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chrX:34961045C>T	ENST00000329357.5	+	1	133	c.97C>T	c.(97-99)Cgc>Tgc	p.R33C		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	33										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CTTCGCGAAGCGCAAGCACAG	0.617																																						ENST00000329357.5																			0				breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						c.(97-99)Cgc>Tgc		family with sequence similarity 47, member B		C	CYS/ARG	0,3833		0,0,0,1631,571	32.0	28.0	29.0		97	-1.7	0.0	X		29	1,6721		0,0,1,2426,1869	no	missense	FAM47B	NM_152631.2	180	0,0,1,4057,2440	TT,TC,T,CC,C		0.0149,0.0,0.0095	benign	33/646	34961045	1,10554	2202	4296	6498	SO:0001583	missense	170062							g.chrX:34961045C>T	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.97C>T	X.37:g.34961045C>T	ENSP00000328307:p.Arg33Cys						p.R33C	NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN			1	133	+			33					Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	c.97C>T	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	C	3.340	-0.134908	0.06711	0.0	1.49E-4	ENSG00000189132	ENST00000329357	T	0.21543	2.0	0.843	-1.69	0.08186	.	.	.	.	.	T	0.13415	0.0325	L	0.41824	1.3	0.09310	N	1	B	0.21381	0.055	B	0.12156	0.007	T	0.25047	-1.0143	8	0.46703	T	0.11	.	.	.	.	.	33	Q8NA70	FA47B_HUMAN	C	33	ENSP00000328307:R33C	ENSP00000328307:R33C	R	+	1	0	FAM47B	34870966	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.883000	0.04170	-1.041000	0.03266	-0.857000	0.03018	CGC		0.617	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		12	34	0	0	0	1	0	12	34				
SORCS1	114815	broad.mit.edu	37	10	108412184	108412184	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr10:108412184C>T	ENST00000263054.6	-	18	2438	c.2431G>A	c.(2431-2433)Gcg>Acg	p.A811T	SORCS1_ENST00000369698.1_Missense_Mutation_p.A346T|SORCS1_ENST00000344440.6_Missense_Mutation_p.A811T	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	811	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CCTTGTTCCGCTGTCAGCTTT	0.527																																						ENST00000263054.6																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127						c.(2431-2433)Gcg>Acg		sortilin-related VPS10 domain containing receptor 1							128.0	113.0	118.0					10																	108412184		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108412184C>T	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.2431G>A	10.37:g.108412184C>T	ENSP00000263054:p.Ala811Thr					SORCS1_ENST00000344440.6_Missense_Mutation_p.A811T|SORCS1_ENST00000369698.1_Missense_Mutation_p.A346T	p.A811T	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	18	2438	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	811			PKD.		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.2431G>A	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.770998	0.69992	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.61742	0.08;0.08;0.08	5.74	5.74	0.90152	PKD/Chitinase domain (1);PKD domain (2);	0.000000	0.85682	D	0.000000	T	0.61274	0.2334	L	0.33485	1.01	0.48571	D	0.999675	P;P;P;P;P	0.40681	0.727;0.68;0.68;0.727;0.68	P;P;P;P;P	0.53760	0.734;0.495;0.615;0.734;0.615	T	0.55398	-0.8147	9	.	.	.	-17.331	15.5126	0.75795	0.1389:0.8611:0.0:0.0	.	811;811;811;811;811	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	T	346;811;811	ENSP00000358712:A346T;ENSP00000263054:A811T;ENSP00000345964:A811T	.	A	-	1	0	SORCS1	108402174	1.000000	0.71417	0.649000	0.29536	0.267000	0.26476	5.534000	0.67167	2.709000	0.92574	0.655000	0.94253	GCG		0.527	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		18	55	0	0	0	1	0	18	55				
RIMS1	22999	broad.mit.edu	37	6	72984118	72984118	+	Silent	SNP	G	G	A	rs190562383	byFrequency	TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr6:72984118G>A	ENST00000521978.1	+	23	3465	c.3465G>A	c.(3463-3465)gcG>gcA	p.A1155A	RIMS1_ENST00000518273.1_Silent_p.A1091A|RIMS1_ENST00000264839.7_Intron|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000517960.1_Intron|RIMS1_ENST00000401910.3_Intron|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000491071.2_Intron|RIMS1_ENST00000538414.1_Intron|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000348717.5_Intron	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1155					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TCCAGCATGCGTCTCCGGAGA	0.493													G|||	3	0.000599042	0.0008	0.0	5008	,	,		16755	0.0		0.002	False		,,,				2504	0.0					ENST00000521978.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102						c.(3463-3465)gcG>gcA		regulating synaptic membrane exocytosis 1		G	,,,,	4,3814		0,4,1905	68.0	65.0	66.0		,,,,3465	-11.1	0.3	6		66	12,8238		0,12,4113	no	intron,intron,intron,intron,coding-synonymous	RIMS1	NM_001168407.1,NM_001168408.1,NM_001168409.1,NM_001168410.1,NM_014989.4	,,,,	0,16,6018	AA,AG,GG		0.1455,0.1048,0.1326	,,,,	,,,,1155/1693	72984118	16,12052	1909	4125	6034	SO:0001819	synonymous_variant	22999				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:72984118G>A	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.3465G>A	6.37:g.72984118G>A						RIMS1_ENST00000491071.2_Intron|RIMS1_ENST00000517960.1_Intron|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000401910.3_Intron|RIMS1_ENST00000538414.1_Intron|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000518273.1_Silent_p.A1091A|RIMS1_ENST00000264839.7_Intron|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000348717.5_Intron|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000520567.1_Intron	p.A1155A	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN			23	3465	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	1155					A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Silent	SNP	ENST00000521978.1	37	c.3465G>A	CCDS47449.1																																																																																				0.493	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			9	36	0	0	0	1	0	9	36				
PCDH17	27253	broad.mit.edu	37	13	58208610	58208610	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr13:58208610G>T	ENST00000377918.3	+	1	1956	c.1930G>T	c.(1930-1932)Gag>Tag	p.E644*		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	644	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GTCCAGCGGCGAGATCCGCAC	0.662																																					Melanoma(72;952 1291 1619 12849 33676)	ENST00000377918.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(1930-1932)Gag>Tag		protocadherin 17							98.0	98.0	98.0					13																	58208610		2202	4300	6502	SO:0001587	stop_gained	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58208610G>T	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1930G>T	13.37:g.58208610G>T	ENSP00000367151:p.Glu644*						p.E644*	NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	1956	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	644			Cadherin 6.		A8K1R5|Q5VVW9|Q5VVX0	Nonsense_Mutation	SNP	ENST00000377918.3	37	c.1930G>T	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	G	46	12.840233	0.99700	.	.	ENSG00000118946	ENST00000377918	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9994	0.92828	0.0:0.0:1.0:0.0	.	.	.	.	X	644	.	.	E	+	1	0	PCDH17	57106611	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.486000	0.83907	0.561000	0.74099	GAG		0.662	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		37	195	1	0	4.14481e-20	1	4.44846e-20	37	195				
TMEM132D	121256	broad.mit.edu	37	12	130184665	130184665	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr12:130184665C>A	ENST00000422113.2	-	2	984	c.658G>T	c.(658-660)Gag>Tag	p.E220*	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	220					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GGGGTCCCCTCCGGCTGGTCC	0.687																																						ENST00000422113.2																			0				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(658-660)Gag>Tag		transmembrane protein 132D							41.0	43.0	43.0					12																	130184665		2203	4300	6503	SO:0001587	stop_gained	121256					integral to membrane		g.chr12:130184665C>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.658G>T	12.37:g.130184665C>A	ENSP00000408581:p.Glu220*						p.E220*	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	2	984	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	220					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Nonsense_Mutation	SNP	ENST00000422113.2	37	c.658G>T	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	C	37	6.045233	0.97231	.	.	ENSG00000151952	ENST00000422113	.	.	.	5.35	5.35	0.76521	.	0.083564	0.49305	D	0.000153	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-37.979	19.0705	0.93134	0.0:1.0:0.0:0.0	.	.	.	.	X	220	.	.	E	-	1	0	TMEM132D	128750618	0.994000	0.37717	0.057000	0.19452	0.022000	0.10575	2.326000	0.43849	2.482000	0.83794	0.650000	0.86243	GAG		0.687	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		16	52	1	0	5.01169e-05	1	5.11647e-05	16	52				
AFMID	125061	broad.mit.edu	37	17	76201746	76201746	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr17:76201746C>T	ENST00000327898.5	+	9	716	c.707C>T	c.(706-708)aCc>aTc	p.T236I	AFMID_ENST00000588800.1_Intron|AFMID_ENST00000591952.1_Intron|AFMID_ENST00000589664.1_Intron|AFMID_ENST00000409257.5_Missense_Mutation_p.T236I					arylformamidase											autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			GTGGACCCCACCTGCCGTGTG	0.642																																						ENST00000409257.5																			0				autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19						c.(706-708)aCc>aTc		arylformamidase							48.0	50.0	49.0					17																	76201746		2203	4300	6503	SO:0001583	missense	125061					cytosol|nucleus	arylformamidase activity	g.chr17:76201746C>T	BX648442	CCDS32750.2, CCDS45801.1	17q25.3	2005-11-09			ENSG00000183077	ENSG00000183077	3.5.1.9		20910	protein-coding gene	gene with protein product							Standard	NR_027083		Approved	DKFZp686F03259, KF	uc002juz.3	Q63HM1	OTTHUMG00000153957	ENST00000327898.5:c.707C>T	17.37:g.76201746C>T	ENSP00000328938:p.Thr236Ile					AFMID_ENST00000588800.1_Intron|AFMID_ENST00000589664.1_Intron|AFMID_ENST00000591952.1_Intron|AFMID_ENST00000327898.5_Missense_Mutation_p.T236I	p.T236I	NM_001010982.4|NM_001145526.2	NP_001010982.2|NP_001138998.1	Q63HM1	AFMID_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)		9	761	+			236						Missense_Mutation	SNP	ENST00000327898.5	37	c.707C>T	CCDS45801.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.415436	0.42817	.	.	ENSG00000183077	ENST00000409257;ENST00000327898	T;T	0.10860	2.83;2.83	4.83	2.73	0.32206	Alpha/beta hydrolase fold-3 (1);	0.788774	0.11870	N	0.521575	T	0.14570	0.0352	L	0.57536	1.79	0.09310	N	1	P;P	0.37914	0.611;0.557	B;B	0.40329	0.326;0.219	T	0.11842	-1.0571	10	0.54805	T	0.06	-4.9593	9.4935	0.38974	0.162:0.682:0.156:0.0	.	236;236	Q63HM1;Q63HM1-2	AFMID_HUMAN;.	I	236	ENSP00000386890:T236I;ENSP00000328938:T236I	ENSP00000328938:T236I	T	+	2	0	AFMID	73713341	0.326000	0.24669	0.002000	0.10522	0.014000	0.08584	0.946000	0.29069	0.388000	0.25054	0.491000	0.48974	ACC		0.642	AFMID-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333203.1	XM_058889		12	34	0	0	0	1	0	12	34				
RBL1	5933	broad.mit.edu	37	20	35661180	35661180	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr20:35661180G>A	ENST00000373664.3	-	16	2336	c.2270C>T	c.(2269-2271)tCa>tTa	p.S757L	RBL1_ENST00000344359.3_Missense_Mutation_p.S757L	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	757	Pocket; binds T and E1A.|Spacer.				chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				ACCAATTAATGAATGAGCAGT	0.423																																						ENST00000373664.3																			0				NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42						c.(2269-2271)tCa>tTa		retinoblastoma-like 1 (p107)							217.0	196.0	203.0					20																	35661180		2203	4300	6503	SO:0001583	missense	5933				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding	g.chr20:35661180G>A	L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.2270C>T	20.37:g.35661180G>A	ENSP00000362768:p.Ser757Leu					RBL1_ENST00000344359.3_Missense_Mutation_p.S757L	p.S757L	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN			16	2336	-		Myeloproliferative disorder(115;0.00878)	757			Pocket; binds T and E1A.|Spacer.		A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Missense_Mutation	SNP	ENST00000373664.3	37	c.2270C>T	CCDS13289.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.609124	0.28623	.	.	ENSG00000080839	ENST00000373664;ENST00000344359	D;D	0.92911	-2.9;-3.13	5.3	4.35	0.52113	.	0.195067	0.34906	N	0.003600	D	0.85822	0.5786	L	0.29908	0.895	0.28510	N	0.913579	B;B	0.30236	0.274;0.013	B;B	0.30179	0.112;0.01	T	0.79105	-0.1940	10	0.36615	T	0.2	-23.6337	10.461	0.44578	0.0704:0.0:0.7963:0.1333	.	757;757	P28749-2;P28749	.;RBL1_HUMAN	L	757	ENSP00000362768:S757L;ENSP00000343646:S757L	ENSP00000343646:S757L	S	-	2	0	RBL1	35094594	1.000000	0.71417	0.978000	0.43139	0.193000	0.23685	4.065000	0.57513	1.485000	0.48380	0.650000	0.86243	TCA		0.423	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079067.2	NM_002895		60	154	0	0	0	1	0	60	154				
IL1RAPL1	11141	broad.mit.edu	37	X	29973723	29973723	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chrX:29973723G>A	ENST00000378993.1	+	11	2550	c.1877G>A	c.(1876-1878)cGa>cAa	p.R626Q	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.R626Q	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	626	Interaction with NCS1.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						CACTACTACCGAAGCTATGAG	0.527																																						ENST00000378993.1																			0				biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(1876-1878)cGa>cAa		interleukin 1 receptor accessory protein-like 1							91.0	43.0	59.0					X																	29973723		2202	4300	6502	SO:0001583	missense	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:29973723G>A	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.1877G>A	X.37:g.29973723G>A	ENSP00000368278:p.Arg626Gln					IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.R626Q	p.R626Q	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN			11	2550	+			626			Interaction with NCS1.		A0AVG4|Q9UJ53	Missense_Mutation	SNP	ENST00000378993.1	37	c.1877G>A	CCDS14218.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.013851	0.35511	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	T;T	0.04758	3.56;3.56	5.25	4.39	0.52855	.	0.057829	0.64402	D	0.000001	T	0.14527	0.0351	M	0.72894	2.215	0.47584	D	0.999465	D	0.60160	0.987	P	0.55455	0.776	T	0.00770	-1.1573	9	.	.	.	.	13.1492	0.59480	0.0794:0.0:0.9206:0.0	.	626	Q9NZN1	IRPL1_HUMAN	Q	626	ENSP00000368278:R626Q;ENSP00000305200:R626Q	.	R	+	2	0	IL1RAPL1	29883644	1.000000	0.71417	1.000000	0.80357	0.249000	0.25844	9.476000	0.97823	0.992000	0.38840	-0.191000	0.12829	CGA		0.527	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		11	22	0	0	0	1	0	11	22				
GPR156	165829	broad.mit.edu	37	3	119886913	119886913	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr3:119886913C>T	ENST00000464295.1	-	10	1856	c.1411G>A	c.(1411-1413)Gag>Aag	p.E471K	GPR156_ENST00000461057.1_Missense_Mutation_p.E467K|GPR156_ENST00000315843.3_Missense_Mutation_p.E471K			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	471						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		GATATCTTCTCCTCCTTCCCT	0.537																																						ENST00000464295.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32						c.(1411-1413)Gag>Aag		G protein-coupled receptor 156							77.0	77.0	77.0					3																	119886913		2203	4300	6503	SO:0001583	missense	165829					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr3:119886913C>T	AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"""GPCR / Class C : Orphans"""	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.1411G>A	3.37:g.119886913C>T	ENSP00000417261:p.Glu471Lys					GPR156_ENST00000315843.3_Missense_Mutation_p.E471K|GPR156_ENST00000461057.1_Missense_Mutation_p.E467K	p.E471K			Q8NFN8	GP156_HUMAN		GBM - Glioblastoma multiforme(114;0.19)	10	1856	-			471					B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Missense_Mutation	SNP	ENST00000464295.1	37	c.1411G>A	CCDS2997.1	.	.	.	.	.	.	.	.	.	.	C	5.449	0.267950	0.10349	.	.	ENSG00000175697	ENST00000464295;ENST00000315843;ENST00000461057	T;T;T	0.28895	1.59;1.59;1.6	5.09	-5.96	0.02234	.	0.765819	0.12295	N	0.481720	T	0.16514	0.0397	L	0.38838	1.175	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.14980	-1.0453	9	.	.	.	-1.7566	5.2807	0.15674	0.0895:0.3033:0.0887:0.5184	.	467;471	E9PFZ4;Q8NFN8	.;GP156_HUMAN	K	471;471;467	ENSP00000417261:E471K;ENSP00000324553:E471K;ENSP00000418758:E467K	.	E	-	1	0	GPR156	121369603	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.599000	0.02085	-2.140000	0.00806	-1.814000	0.00607	GAG		0.537	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355139.1	NM_153002		10	90	0	0	0	1	0	10	90				
MYH9	4627	broad.mit.edu	37	22	36712573	36712573	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr22:36712573C>T	ENST00000216181.5	-	12	1599	c.1369G>A	c.(1369-1371)Gag>Aag	p.E457K	RN7SL349P_ENST00000582364.1_RNA	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	457	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.E457K(1)		NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TCAAAGATCTCGAAGCCGGCA	0.572			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""	L	ALK		ALCL		1	Substitution - Missense(1)	p.E457K(1)	upper_aerodigestive_tract(1)	NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(1369-1371)Gag>Aag		myosin, heavy chain 9, non-muscle							117.0	118.0	118.0					22																	36712573		2203	4300	6503	SO:0001583	missense	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36712573C>T		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.1369G>A	22.37:g.36712573C>T	ENSP00000216181:p.Glu457Lys						p.E457K	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			12	1599	-			457			Myosin head-like.		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.1369G>A	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	C	36	5.666090	0.96745	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	T	0.80480	-1.38	5.1	5.1	0.69264	Myosin head, motor domain (3);	0.052482	0.85682	D	0.000000	D	0.95105	0.8414	H	0.99929	4.97	0.80722	D	1	D	0.89917	1.0	D	0.69479	0.964	D	0.97810	1.0250	10	0.87932	D	0	.	18.5469	0.91050	0.0:1.0:0.0:0.0	.	457	P35579	MYH9_HUMAN	K	321;457	ENSP00000216181:E457K	ENSP00000216181:E457K	E	-	1	0	MYH9	35042519	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.796000	0.85898	2.538000	0.85594	0.585000	0.79938	GAG		0.572	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		37	106	0	0	0	1	0	37	106				
NKG7	4818	broad.mit.edu	37	19	51875635	51875635	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr19:51875635G>A	ENST00000221978.5	-	1	334	c.155C>T	c.(154-156)tCa>tTa	p.S52L	NKG7_ENST00000600427.1_Missense_Mutation_p.S52L|NKG7_ENST00000595217.1_Missense_Mutation_p.S52L	NM_005601.3	NP_005592.1	Q16617	NKG7_HUMAN	natural killer cell granule protein 7	52						integral component of plasma membrane (GO:0005887)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CCCCTTACCTGATATGATGTC	0.582																																						ENST00000221978.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						c.(154-156)tCa>tTa		natural killer cell group 7 sequence							169.0	154.0	159.0					19																	51875635		2203	4300	6503	SO:0001583	missense	4818					integral to plasma membrane		g.chr19:51875635G>A		CCDS12830.1	19q13.41	2014-03-07	2014-03-07		ENSG00000105374	ENSG00000105374			7830	protein-coding gene	gene with protein product	"""granule membrane protein 17"""	606008	"""natural killer cell group 7 sequence"""			8458737	Standard	NM_005601		Approved	GIG1, GMP-17	uc002pwj.3	Q16617	OTTHUMG00000182898	ENST00000221978.5:c.155C>T	19.37:g.51875635G>A	ENSP00000221978:p.Ser52Leu					NKG7_ENST00000600427.1_Missense_Mutation_p.S52L|NKG7_ENST00000595217.1_Missense_Mutation_p.S52L	p.S52L	NM_005601.3	NP_005592.1	Q16617	NKG7_HUMAN		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	1	334	-		all_neural(266;0.0199)	52						Missense_Mutation	SNP	ENST00000221978.5	37	c.155C>T	CCDS12830.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.256614	0.39896	.	.	ENSG00000105374	ENST00000221978	T	0.12361	2.69	4.98	-1.97	0.07503	.	0.986126	0.08240	N	0.976292	T	0.09468	0.0233	N	0.22421	0.69	0.09310	N	1	B	0.11235	0.004	B	0.16722	0.016	T	0.40776	-0.9545	10	0.56958	D	0.05	1.7632	8.6117	0.33806	0.0:0.1351:0.2671:0.5979	.	52	Q16617	NKG7_HUMAN	L	52	ENSP00000221978:S52L	ENSP00000221978:S52L	S	-	2	0	NKG7	56567447	0.077000	0.21312	0.119000	0.21687	0.010000	0.07245	-0.277000	0.08502	-0.012000	0.14223	0.561000	0.74099	TCA		0.582	NKG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464260.2	NM_005601		59	180	0	0	0	1	0	59	180				
OR4K2	390431	broad.mit.edu	37	14	20344899	20344899	+	Missense_Mutation	SNP	G	G	T	rs368329389		TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr14:20344899G>T	ENST00000298642.2	+	1	509	c.473G>T	c.(472-474)aGt>aTt	p.S158I		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CATTCAATGAGTCAGGTCATA	0.488																																						ENST00000298642.2																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43						c.(472-474)aGt>aTt		olfactory receptor, family 4, subfamily K, member 2							378.0	367.0	371.0					14																	20344899		2203	4300	6503	SO:0001583	missense	390431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20344899G>T		CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"""GPCR / Class A : Olfactory receptors"""	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.473G>T	14.37:g.20344899G>T	ENSP00000298642:p.Ser158Ile						p.S158I	NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	509	+	all_cancers(95;0.00108)		158					B2RNK8|Q6IFA5	Missense_Mutation	SNP	ENST00000298642.2	37	c.473G>T	CCDS32023.1	.	.	.	.	.	.	.	.	.	.	.	14.00	2.406075	0.42715	.	.	ENSG00000165762	ENST00000298642	T	0.35605	1.3	5.12	4.24	0.50183	GPCR, rhodopsin-like superfamily (1);	0.100146	0.44097	D	0.000496	T	0.30448	0.0765	N	0.04959	-0.14	0.09310	N	0.999997	D	0.71674	0.998	D	0.77557	0.99	T	0.14062	-1.0486	10	0.17369	T	0.5	.	6.3278	0.21253	0.092:0.0:0.7263:0.1817	.	158	Q8NGD2	OR4K2_HUMAN	I	158	ENSP00000298642:S158I	ENSP00000298642:S158I	S	+	2	0	OR4K2	19414739	0.001000	0.12720	0.997000	0.53966	0.865000	0.49528	0.730000	0.26043	1.389000	0.46526	0.563000	0.77884	AGT		0.488	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409864.1			71	304	1	0	3.39796e-24	1	3.68741e-24	71	304				
PARP14	54625	broad.mit.edu	37	3	122411357	122411357	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr3:122411357G>C	ENST00000474629.2	+	4	831	c.565G>C	c.(565-567)Gat>Cat	p.D189H		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	189					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		AAGAGATTTTGATGTTGCTGT	0.388																																						ENST00000474629.2																			0				NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50						c.(565-567)Gat>Cat		poly (ADP-ribose) polymerase family, member 14							137.0	131.0	133.0					3																	122411357		1872	4113	5985	SO:0001583	missense	54625				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	g.chr3:122411357G>C	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.565G>C	3.37:g.122411357G>C	ENSP00000418194:p.Asp189His						p.D189H	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	4	831	+			189					B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	ENST00000474629.2	37	c.565G>C	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	G	7.272	0.607330	0.14002	.	.	ENSG00000173193	ENST00000474629	T	0.71461	-0.57	5.5	1.65	0.23941	.	.	.	.	.	T	0.54382	0.1855	L	0.34521	1.04	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.37663	-0.9696	9	0.30854	T	0.27	.	5.5759	0.17222	0.2516:0.3819:0.3665:0.0	.	189	Q460N5	PAR14_HUMAN	H	189	ENSP00000418194:D189H	ENSP00000420649:D30H	D	+	1	0	PARP14	123894047	0.000000	0.05858	0.248000	0.24265	0.141000	0.21300	-0.116000	0.10724	0.121000	0.18284	0.655000	0.94253	GAT		0.388	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		7	31	0	0	0	1	0	7	31				
TREX2	11219	broad.mit.edu	37	X	152710318	152710318	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chrX:152710318C>T	ENST00000334497.2	-	11	1841	c.700G>A	c.(700-702)Gag>Aag	p.E234K	TREX2_ENST00000402951.1_Missense_Mutation_p.E234K|TREX2_ENST00000338525.2_Missense_Mutation_p.E191K|TREX2_ENST00000414588.1_Missense_Mutation_p.E233K|TREX2_ENST00000370232.1_Missense_Mutation_p.E234K|TREX2_ENST00000370231.2_Missense_Mutation_p.E191K|TREX2_ENST00000330912.2_Missense_Mutation_p.E191K|TREX2_ENST00000393862.2_Missense_Mutation_p.E191K|HAUS7_ENST00000484394.1_5'Flank			Q9BQ50	TREX2_HUMAN	three prime repair exonuclease 2	234					DNA catabolic process, exonucleolytic (GO:0000738)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)	nucleus (GO:0005634)	3'-5'-exodeoxyribonuclease activity (GO:0008296)|exodeoxyribonuclease III activity (GO:0008853)|magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)			endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACGTCGCCCTCGGCTGAGTGG	0.721								Editing and processing nucleases																														ENST00000330912.2																			0				endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11						c.(571-573)Gag>Aag	Editing and processing nucleases	three prime repair exonuclease 2							16.0	15.0	15.0					X																	152710318		2189	4279	6468	SO:0001583	missense	11219				DNA repair	nucleus	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding	g.chrX:152710318C>T	AF151107	CCDS35437.1	Xq28	2012-05-08			ENSG00000183479	ENSG00000183479			12270	protein-coding gene	gene with protein product		300370				10391904	Standard	NM_080701		Approved		uc011myp.2	Q9BQ50	OTTHUMG00000159319	ENST00000334497.2:c.700G>A	X.37:g.152710318C>T	ENSP00000334993:p.Glu234Lys					TREX2_ENST00000370232.1_Missense_Mutation_p.E234K|TREX2_ENST00000402951.1_Missense_Mutation_p.E234K|TREX2_ENST00000370231.2_Missense_Mutation_p.E191K|TREX2_ENST00000334497.2_Missense_Mutation_p.E234K|TREX2_ENST00000414588.1_Missense_Mutation_p.E233K|TREX2_ENST00000338525.2_Missense_Mutation_p.E191K|TREX2_ENST00000393862.2_Missense_Mutation_p.E191K	p.E191K			Q9BQ50	TREX2_HUMAN			13	2121	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		234					Q45F08|Q9UN77	Missense_Mutation	SNP	ENST00000334497.2	37	c.571G>A		.	.	.	.	.	.	.	.	.	.	C	17.08	3.298676	0.60195	.	.	ENSG00000183479	ENST00000393862;ENST00000330912;ENST00000338525;ENST00000334497;ENST00000370232;ENST00000402951;ENST00000414588;ENST00000370231	T;T;T;T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98;1.98;1.98;1.98	4.89	4.89	0.63831	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.000000	0.46145	U	0.000301	T	0.42585	0.1209	L	0.60455	1.87	0.40718	D	0.982639	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.35847	-0.9772	10	0.54805	T	0.06	-8.4419	14.534	0.67947	0.0:1.0:0.0:0.0	.	233;234	Q06S70;Q9BQ50	.;TREX2_HUMAN	K	191;191;191;234;234;234;233;191	ENSP00000377442:E191K;ENSP00000333441:E191K;ENSP00000345218:E191K;ENSP00000334993:E234K;ENSP00000359252:E234K;ENSP00000386078:E234K;ENSP00000401692:E233K;ENSP00000359251:E191K	ENSP00000333441:E191K	E	-	1	0	TREX2	152363512	0.998000	0.40836	0.726000	0.30738	0.029000	0.11900	5.091000	0.64505	2.010000	0.58986	0.468000	0.43344	GAG		0.721	TREX2-001	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000060966.1	NM_080701		3	9	0	0	0	1	0	3	9				
SLC4A7	9497	broad.mit.edu	37	3	27442266	27442266	+	Missense_Mutation	SNP	G	G	C	rs201738916		TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr3:27442266G>C	ENST00000295736.5	-	16	2459	c.2389C>G	c.(2389-2391)Ctt>Gtt	p.L797V	SLC4A7_ENST00000435667.2_Missense_Mutation_p.L682V|SLC4A7_ENST00000428386.1_Missense_Mutation_p.L673V|SLC4A7_ENST00000446700.1_Missense_Mutation_p.L789V|SLC4A7_ENST00000437179.1_Missense_Mutation_p.L678V|SLC4A7_ENST00000440156.1_Missense_Mutation_p.L793V|SLC4A7_ENST00000388777.4_Missense_Mutation_p.L347V|SLC4A7_ENST00000445684.1_Missense_Mutation_p.L793V|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000455077.1_Missense_Mutation_p.L678V|SLC4A7_ENST00000454389.1_Missense_Mutation_p.L806V	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	797					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	GAAACAGTAAGATTTCTCCAG	0.333																																						ENST00000295736.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						c.(2389-2391)Ctt>Gtt		solute carrier family 4, sodium bicarbonate cotransporter, member 7							130.0	131.0	130.0					3																	27442266		2203	4297	6500	SO:0001583	missense	9497					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr3:27442266G>C	AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.2389C>G	3.37:g.27442266G>C	ENSP00000295736:p.Leu797Val					SLC4A7_ENST00000435667.2_Missense_Mutation_p.L682V|SLC4A7_ENST00000455077.1_Missense_Mutation_p.L678V|SLC4A7_ENST00000440156.1_Missense_Mutation_p.L793V|SLC4A7_ENST00000388777.4_Missense_Mutation_p.L347V|SLC4A7_ENST00000437179.1_Missense_Mutation_p.L678V|SLC4A7_ENST00000428386.1_Missense_Mutation_p.L673V|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000446700.1_Missense_Mutation_p.L789V|SLC4A7_ENST00000454389.1_Missense_Mutation_p.L806V|SLC4A7_ENST00000445684.1_Missense_Mutation_p.L793V	p.L797V	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN			16	2459	-			797					A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	ENST00000295736.5	37	c.2389C>G	CCDS33721.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.021956	0.54576	.	.	ENSG00000033867	ENST00000419036;ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000388777;ENST00000428179	T;T;T;T;T;T;T;T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.22	5.43	5.43	0.79202	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86577	0.5966	L	0.60957	1.885	0.80722	D	1	P;B;P;D;P;B;B;P;P	0.76494	0.899;0.372;0.616;0.999;0.899;0.14;0.322;0.899;0.767	P;P;P;D;P;B;B;P;P	0.76575	0.771;0.466;0.449;0.988;0.771;0.23;0.335;0.771;0.731	D	0.86453	0.1774	10	0.52906	T	0.07	.	19.228	0.93825	0.0:0.0:1.0:0.0	.	793;678;789;793;806;347;673;797;678	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;F8W7E6;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	V	348;797;673;806;793;678;789;678;793;682;347;693	ENSP00000411031:L348V;ENSP00000295736:L797V;ENSP00000416368:L673V;ENSP00000390394:L806V;ENSP00000414797:L793V;ENSP00000394252:L678V;ENSP00000406605:L789V;ENSP00000407382:L678V;ENSP00000406804:L793V;ENSP00000395336:L682V;ENSP00000373429:L347V;ENSP00000388703:L693V	ENSP00000295736:L797V	L	-	1	0	SLC4A7	27417270	1.000000	0.71417	0.999000	0.59377	0.468000	0.32798	8.738000	0.91569	2.560000	0.86352	0.467000	0.42956	CTT		0.333	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615		35	65	0	0	0	1	0	35	65				
LRPPRC	10128	broad.mit.edu	37	2	44201421	44201421	+	Silent	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr2:44201421G>A	ENST00000260665.7	-	9	1080	c.1023C>T	c.(1021-1023)ctC>ctT	p.L341L	LRPPRC_ENST00000409946.1_Silent_p.L341L|LRPPRC_ENST00000409659.1_Silent_p.L341L	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	341					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AAAGTAAAATGAGGTTCATTG	0.353																																						ENST00000260665.7																			0				breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41						c.(1021-1023)ctC>ctT		leucine-rich pentatricopeptide repeat containing							51.0	52.0	52.0					2																	44201421		2203	4300	6503	SO:0001819	synonymous_variant	10128				mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding	g.chr2:44201421G>A	M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.1023C>T	2.37:g.44201421G>A						LRPPRC_ENST00000409659.1_Silent_p.L341L|LRPPRC_ENST00000409946.1_Silent_p.L341L	p.L341L	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN			9	1080	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	341					A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Silent	SNP	ENST00000260665.7	37	c.1023C>T	CCDS33189.1																																																																																				0.353	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259		19	55	0	0	0	1	0	19	55				
ANKRD20A1	84210	broad.mit.edu	37	9	67951986	67951986	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr9:67951986G>T	ENST00000377477.2	+	9	1061	c.949G>T	c.(949-951)Gga>Tga	p.G317*		NM_032250.3	NP_115626.2	Q5TYW2	A20A1_HUMAN	ankyrin repeat domain 20 family, member A1	317						plasma membrane (GO:0005886)				kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	11						GCATGAAAAAGGAAACAGAAT	0.418																																						ENST00000377477.2																			0				kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	11						c.(949-951)Gga>Tga		ankyrin repeat domain 20 family, member A1							148.0	143.0	145.0					9																	67951986		1350	2292	3642	SO:0001587	stop_gained	84210							g.chr9:67951986G>T	AL136793	CCDS6620.1	9p12	2014-04-16	2005-08-23	2005-08-23	ENSG00000196774	ENSG00000260691		"""Ankyrin repeat domain containing"""	23665	protein-coding gene	gene with protein product			"""ankyrin repeat domain 20A"""	ANKRD20A			Standard	NM_032250		Approved	DKFZp434A171		Q5TYW2	OTTHUMG00000188594	ENST00000377477.2:c.949G>T	9.37:g.67951986G>T	ENSP00000366697:p.Gly317*						p.G317*	NM_032250.3	NP_115626.2					9	1061	+								Q9H0H6	Nonsense_Mutation	SNP	ENST00000377477.2	37	c.949G>T	CCDS6620.1	.	.	.	.	.	.	.	.	.	.	.	17.09	3.301487	0.60195	.	.	ENSG00000196774	ENST00000377477	.	.	.	1.19	0.203	0.15195	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	3.6441	0.08178	0.2652:0.0:0.7348:0.0	.	.	.	.	X	317	.	ENSP00000366697:G317X	G	+	1	0	ANKRD20A1	67541806	0.900000	0.30661	0.006000	0.13384	0.000000	0.00434	1.798000	0.38814	0.135000	0.18707	0.000000	0.15137	GGA		0.418	ANKRD20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083800.1			24	186	1	0	9.62906e-15	1	1.02593e-14	24	186				
SVEP1	79987	broad.mit.edu	37	9	113169175	113169175	+	Missense_Mutation	SNP	G	G	A	rs199967982		TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr9:113169175G>A	ENST00000401783.2	-	38	9041	c.8705C>T	c.(8704-8706)aCg>aTg	p.T2902M	SVEP1_ENST00000297826.5_Missense_Mutation_p.T828M|SVEP1_ENST00000374469.1_Missense_Mutation_p.T2879M	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2902	Sushi 25. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CAGGCCTTCCGTCACCCCATT	0.557																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(8704-8706)aCg>aTg		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1		A	MET/THR	0,4100		0,0,2050	76.0	79.0	78.0		8705	3.3	0.9	9		78	7,8403		0,7,4198	yes	missense	SVEP1	NM_153366.3	81	0,7,6248	AA,AG,GG		0.0832,0.0,0.056	benign	2902/3572	113169175	7,12503	2050	4205	6255	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113169175G>A	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.8705C>T	9.37:g.113169175G>A	ENSP00000384917:p.Thr2902Met					SVEP1_ENST00000374469.1_Missense_Mutation_p.T2879M|SVEP1_ENST00000297826.5_Missense_Mutation_p.T828M	p.T2902M	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			38	9041	-			2902			Sushi 25.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.8705C>T	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	A	3.448	-0.112640	0.06881	0.0	8.32E-4	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	T;T;T	0.64803	-0.12;-0.12;-0.12	5.66	3.35	0.38373	Complement control module (2);Sushi/SCR/CCP (3);	0.539100	0.21909	N	0.067337	T	0.30823	0.0777	N	0.01267	-0.92	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.20505	-1.0273	10	0.33940	T	0.23	.	9.4194	0.38541	0.7196:0.0:0.2804:0.0	.	2902	Q4LDE5	SVEP1_HUMAN	M	2902;2879;828	ENSP00000384917:T2902M;ENSP00000363593:T2879M;ENSP00000297826:T828M	ENSP00000297826:T828M	T	-	2	0	SVEP1	112208996	0.003000	0.15002	0.911000	0.35937	0.893000	0.52053	1.920000	0.40025	0.119000	0.18210	-0.332000	0.08345	ACG		0.557	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				29	107	0	0	0	1	0	29	107				
ASB18	401036	broad.mit.edu	37	2	237172837	237172837	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr2:237172837T>C	ENST00000409749.3	-	1	151	c.152A>G	c.(151-153)aAt>aGt	p.N51S	AC079135.1_ENST00000415226.1_RNA	NM_212556.2	NP_997721.2	Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box containing 18	51					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		CCAGTCGTCATTGGCCAGTTC	0.502																																						ENST00000409749.3																			0				large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6						c.(151-153)aAt>aGt		ankyrin repeat and SOCS box containing 18							97.0	95.0	96.0					2																	237172837		2057	4212	6269	SO:0001583	missense	401036				intracellular signal transduction			g.chr2:237172837T>C	AK123854	CCDS46548.1	2q37.2	2013-01-10	2011-01-25		ENSG00000182177	ENSG00000182177		"""Ankyrin repeat domain containing"""	19770	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 18"""			12076535	Standard	NM_212556		Approved		uc010znh.2	Q6ZVZ8	OTTHUMG00000153086	ENST00000409749.3:c.152A>G	2.37:g.237172837T>C	ENSP00000386532:p.Asn51Ser					AC079135.1_ENST00000415226.1_RNA	p.N51S	NM_212556.2	NP_997721.2	Q6ZVZ8	ASB18_HUMAN		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)	1	151	-		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)	51					B6ZDL7	Missense_Mutation	SNP	ENST00000409749.3	37	c.152A>G	CCDS46548.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.986811	0.74589	.	.	ENSG00000182177	ENST00000409749;ENST00000430053	T;T	0.47869	1.02;0.83	5.09	5.09	0.68999	.	.	.	.	.	T	0.41305	0.1153	L	0.60455	1.87	0.80722	D	1	P	0.48503	0.911	B	0.39840	0.311	T	0.34800	-0.9814	9	0.11794	T	0.64	.	13.864	0.63576	0.0:0.0:0.0:1.0	.	51	Q6ZVZ8	ASB18_HUMAN	S	51	ENSP00000386532:N51S;ENSP00000410021:N51S	ENSP00000386532:N51S	N	-	2	0	ASB18	236837576	1.000000	0.71417	0.982000	0.44146	0.994000	0.84299	4.725000	0.61979	1.914000	0.55421	0.482000	0.46254	AAT		0.502	ASB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329436.1	NM_212556		7	34	0	0	0	1	0	7	34				
GDF6	392255	broad.mit.edu	37	8	97172596	97172596	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr8:97172596C>T	ENST00000287020.5	-	1	424	c.325G>A	c.(325-327)Gag>Aag	p.E109K		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	109					activin receptor signaling pathway (GO:0032924)|apoptotic process (GO:0006915)|BMP signaling pathway (GO:0030509)|growth (GO:0040007)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal cell apoptotic process (GO:1990009)	extracellular space (GO:0005615)				breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					CCCAGCTTCTCAGCGATGGAG	0.582																																						ENST00000287020.5																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						c.(325-327)Gag>Aag		growth differentiation factor 6							117.0	124.0	122.0					8																	97172596		2203	4300	6503	SO:0001583	missense	392255				activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr8:97172596C>T		CCDS34926.1	8q22.1	2014-01-29			ENSG00000156466	ENSG00000156466			4221	protein-coding gene	gene with protein product		601147	"""segmentation syndrome 1"""	SGM1		10022976, 18425797	Standard	NM_001001557		Approved	BMP13, KFS, KFS1	uc003yhp.3	Q6KF10	OTTHUMG00000164710	ENST00000287020.5:c.325G>A	8.37:g.97172596C>T	ENSP00000287020:p.Glu109Lys						p.E109K	NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN			1	424	-	Breast(36;2.67e-05)		109					Q6PI58	Missense_Mutation	SNP	ENST00000287020.5	37	c.325G>A	CCDS34926.1	.	.	.	.	.	.	.	.	.	.	C	34	5.306296	0.95629	.	.	ENSG00000156466	ENST00000287020;ENST00000454970;ENST00000435084	T	0.66815	-0.23	4.3	4.3	0.51218	Transforming growth factor-beta, N-terminal (1);	0.000000	0.64402	U	0.000002	T	0.76800	0.4038	M	0.67397	2.05	0.52501	D	0.999958	P	0.52316	0.952	P	0.60789	0.879	T	0.77427	-0.2592	10	0.42905	T	0.14	.	13.9058	0.63834	0.0:1.0:0.0:0.0	.	109	Q6KF10	GDF6_HUMAN	K	109	ENSP00000287020:E109K	ENSP00000287020:E109K	E	-	1	0	GDF6	97241772	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.075000	0.76798	1.947000	0.56498	0.411000	0.27672	GAG		0.582	GDF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379862.2	NM_001001557		77	180	0	0	0	1	0	77	180				
FMR1NB	158521	broad.mit.edu	37	X	147063165	147063165	+	Silent	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chrX:147063165C>T	ENST00000370467.3	+	1	317	c.243C>T	c.(241-243)ttC>ttT	p.F81F		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	81						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTGCTGTTCGTGTGCTACT	0.612																																						ENST00000370467.3																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25						c.(241-243)ttC>ttT		fragile X mental retardation 1 neighbor							144.0	134.0	138.0					X																	147063165		2203	4300	6503	SO:0001819	synonymous_variant	158521					integral to membrane		g.chrX:147063165C>T		CCDS14683.1	Xq28	2009-03-25			ENSG00000176988	ENSG00000176988			26372	protein-coding gene	gene with protein product	"""cancer/testis antigen 37"""					12601173	Standard	NM_152578		Approved	FLJ25736, NY-SAR-35, CT37	uc004fcm.3	Q8N0W7	OTTHUMG00000022608	ENST00000370467.3:c.243C>T	X.37:g.147063165C>T							p.F81F	NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN			1	317	+	Acute lymphoblastic leukemia(192;6.56e-05)		81					D3DWT3	Silent	SNP	ENST00000370467.3	37	c.243C>T	CCDS14683.1																																																																																				0.612	FMR1NB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058667.1	NM_152578		38	89	0	0	0	1	0	38	89				
FUT6	2528	broad.mit.edu	37	19	5831884	5831884	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr19:5831884G>T	ENST00000318336.4	-	3	1889	c.695C>A	c.(694-696)aCc>aAc	p.T232N	FUT6_ENST00000527106.1_Missense_Mutation_p.T232N|FUT6_ENST00000592563.1_Missense_Mutation_p.T232N|FUT6_ENST00000286955.5_Missense_Mutation_p.T232N|FUT6_ENST00000524754.1_Missense_Mutation_p.T232N	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	232					fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						CTCCATCATGGTTCCCTGGGG	0.617																																						ENST00000318336.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						c.(694-696)aCc>aAc		fucosyltransferase 6 (alpha (1,3) fucosyltransferase)							134.0	128.0	130.0					19																	5831884		2203	4300	6503	SO:0001583	missense	2528				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity	g.chr19:5831884G>T		CCDS12152.1	19p13.3	2013-02-26			ENSG00000156413	ENSG00000156413	2.4.1.65	"""Fucosyltransferases"""	4017	protein-coding gene	gene with protein product	"""alpha-(1,3)-fucosyltransferase"", ""galactoside 3-L-fucosyltransferase"""	136836				1520296, 7782074	Standard	NM_001040701		Approved	FT1A, FCT3A, FucT-VI, FLJ40754	uc002mdh.1	P51993	OTTHUMG00000167335	ENST00000318336.4:c.695C>A	19.37:g.5831884G>T	ENSP00000313398:p.Thr232Asn					FUT6_ENST00000524754.1_Missense_Mutation_p.T232N|FUT6_ENST00000286955.5_Missense_Mutation_p.T232N|FUT6_ENST00000527106.1_Missense_Mutation_p.T232N|FUT6_ENST00000592563.1_Missense_Mutation_p.T232N	p.T232N	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN			3	1889	-			232					A6NEX0|D6W637|Q9UND8	Missense_Mutation	SNP	ENST00000318336.4	37	c.695C>A	CCDS12152.1	.	.	.	.	.	.	.	.	.	.	G	3.652	-0.071394	0.07228	.	.	ENSG00000156413	ENST00000524754;ENST00000527106;ENST00000318336;ENST00000286955;ENST00000341530	T;T;T;T	0.23147	1.92;1.92;1.92;1.92	3.07	-6.14	0.02111	.	5.889800	0.00541	N	0.000220	T	0.10895	0.0266	N	0.10629	0.01	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.14023	0.01;0.006	T	0.20240	-1.0281	10	0.13108	T	0.6	.	6.038	0.19718	0.153:0.0:0.1718:0.6751	.	232;232	C9J8A2;P51993	.;FUT6_HUMAN	N	232	ENSP00000431708:T232N;ENSP00000432954:T232N;ENSP00000313398:T232N;ENSP00000286955:T232N	ENSP00000286955:T232N	T	-	2	0	FUT6	5782884	0.000000	0.05858	0.009000	0.14445	0.013000	0.08279	-2.902000	0.00703	-0.825000	0.04290	0.430000	0.28490	ACC		0.617	FUT6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394218.2	NM_000150		43	124	1	0	4.14194e-30	1	4.52831e-30	43	124				
COL4A6	1288	broad.mit.edu	37	X	107403862	107403862	+	Silent	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chrX:107403862G>A	ENST00000372216.4	-	43	4459	c.4359C>T	c.(4357-4359)ccC>ccT	p.P1453P	COL4A6_ENST00000545689.1_Silent_p.P1428P|COL4A6_ENST00000334504.7_Silent_p.P1452P|COL4A6_ENST00000418180.1_5'Flank|COL4A6_ENST00000394872.2_Silent_p.P1453P|COL4A6_ENST00000538570.1_Silent_p.P1395P	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1453	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GCATCCCGAAGGGGCCTTGCT	0.552									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	ENST00000394872.2																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						c.(4357-4359)ccC>ccT		collagen, type IV, alpha 6							77.0	69.0	71.0					X																	107403862		2203	4300	6503	SO:0001819	synonymous_variant	1288	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107403862G>A	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.4359C>T	X.37:g.107403862G>A						COL4A6_ENST00000545689.1_Silent_p.P1428P|COL4A6_ENST00000372216.4_Silent_p.P1453P|COL4A6_ENST00000538570.1_Silent_p.P1395P|COL4A6_ENST00000334504.7_Silent_p.P1452P	p.P1453P			Q14031	CO4A6_HUMAN			43	4590	-			1453			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Silent	SNP	ENST00000372216.4	37	c.4359C>T	CCDS14541.1																																																																																				0.552	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			32	109	0	0	0	1	0	32	109				
NINJ1	4814	broad.mit.edu	37	9	95887203	95887203	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr9:95887203G>A	ENST00000375446.4	-	3	516	c.446C>T	c.(445-447)gCa>gTa	p.A149V	NINJ1_ENST00000489274.1_5'UTR	NM_004148.3	NP_004139.2	Q92982	NINJ1_HUMAN	ninjurin 1	149					cell adhesion (GO:0007155)|hyaloid vascular plexus regression (GO:1990384)|nervous system development (GO:0007399)|positive regulation of cell-matrix adhesion (GO:0001954)|tissue regeneration (GO:0042246)	integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|upper_aerodigestive_tract(1)	4						CTGCTGGGGTGCCATGTCCAT	0.607																																						ENST00000375446.4																			0				kidney(1)|large_intestine(2)|upper_aerodigestive_tract(1)	4						c.(445-447)gCa>gTa		ninjurin 1							96.0	80.0	85.0					9																	95887203		2203	4300	6503	SO:0001583	missense	4814				cell adhesion|nervous system development|tissue regeneration	integral to membrane		g.chr9:95887203G>A	U91512	CCDS6703.1	9q22	2008-07-21			ENSG00000131669	ENSG00000131669			7824	protein-coding gene	gene with protein product	"""nerve injury-induced protein-1"""	602062				8780658	Standard	NM_004148		Approved	NIN1	uc004atg.4	Q92982	OTTHUMG00000020242	ENST00000375446.4:c.446C>T	9.37:g.95887203G>A	ENSP00000364595:p.Ala149Val					NINJ1_ENST00000489274.1_5'UTR	p.A149V	NM_004148.3	NP_004139.2	Q92982	NINJ1_HUMAN			3	516	-			149					Q6GU89|Q8WUV5|Q9BT07	Missense_Mutation	SNP	ENST00000375446.4	37	c.446C>T	CCDS6703.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.815197	0.70912	.	.	ENSG00000131669	ENST00000375446	T	0.49720	0.77	4.09	3.19	0.36642	.	0.401453	0.20388	N	0.093320	T	0.30198	0.0757	N	0.22421	0.69	0.09310	N	1	P	0.39665	0.682	B	0.34722	0.188	T	0.17167	-1.0378	10	0.72032	D	0.01	-23.2174	9.0651	0.36458	0.1041:0.0:0.8959:0.0	.	149	Q92982	NINJ1_HUMAN	V	149	ENSP00000364595:A149V	ENSP00000364595:A149V	A	-	2	0	NINJ1	94927024	0.940000	0.31905	0.132000	0.22025	0.860000	0.49131	4.658000	0.61497	1.075000	0.40932	0.561000	0.74099	GCA		0.607	NINJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053123.2	NM_004148		13	51	0	0	0	1	0	13	51				
RAD51AP1	10635	broad.mit.edu	37	12	4654955	4654955	+	Missense_Mutation	SNP	G	G	A	rs373217149		TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr12:4654955G>A	ENST00000228843.9	+	4	267	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	RAD51AP1_ENST00000543041.1_Intron|RAD51AP1_ENST00000321524.7_Missense_Mutation_p.E73K|RAD51AP1_ENST00000544927.1_Intron|RAD51AP1_ENST00000352618.4_Intron	NM_001130862.1	NP_001124334.1			RAD51 associated protein 1											breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			cagactccctgaaggtacttt	0.383																																						ENST00000228843.9																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13						c.(217-219)Gaa>Aaa		RAD51 associated protein 1		G	LYS/GLU,	0,3136		0,0,1568	248.0	233.0	237.0		217,	0.6	0.0	12		237	1,7163		0,1,3581	no	missense,intron	RAD51AP1	NM_001130862.1,NM_006479.4	56,	0,1,5149	AA,AG,GG		0.014,0.0,0.0097	,	73/353,	4654955	1,10299	1568	3582	5150	SO:0001583	missense	10635				double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|RNA binding|single-stranded DNA binding	g.chr12:4654955G>A	AF006259	CCDS8529.1, CCDS44805.1	12p13.2-p13.1	2004-09-16			ENSG00000111247	ENSG00000111247			16956	protein-coding gene	gene with protein product		603070				9396801	Standard	NM_001130862		Approved	PIR51	uc001qmw.3	Q96B01	OTTHUMG00000168125	ENST00000228843.9:c.217G>A	12.37:g.4654955G>A	ENSP00000228843:p.Glu73Lys					RAD51AP1_ENST00000543041.1_Intron|RAD51AP1_ENST00000544927.1_Intron|RAD51AP1_ENST00000352618.4_Intron|RAD51AP1_ENST00000321524.7_Missense_Mutation_p.E73K	p.E73K	NM_001130862.1	NP_001124334.1	Q96B01	R51A1_HUMAN	Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)		4	267	+			73						Missense_Mutation	SNP	ENST00000228843.9	37	c.217G>A	CCDS44805.1	.	.	.	.	.	.	.	.	.	.	G	5.427	0.263908	0.10294	0.0	1.4E-4	ENSG00000111247	ENST00000321524;ENST00000228843	T;T	0.27557	1.66;1.66	3.51	0.573	0.17363	.	1.752650	0.03553	N	0.225757	T	0.23014	0.0556	L	0.34521	1.04	0.09310	N	1	B;B	0.16396	0.017;0.017	B;B	0.12837	0.008;0.008	T	0.16158	-1.0412	10	0.22706	T	0.39	.	5.6414	0.17567	0.1128:0.3911:0.4961:0.0	.	73;73	Q96B01;A8K313	R51A1_HUMAN;.	K	73	ENSP00000323750:E73K;ENSP00000228843:E73K	ENSP00000228843:E73K	E	+	1	0	RAD51AP1	4525216	0.001000	0.12720	0.000000	0.03702	0.052000	0.14988	0.468000	0.22051	0.119000	0.18210	-0.140000	0.14226	GAA		0.383	RAD51AP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398543.2	NM_006479		61	171	0	0	0	1	0	61	171				
DNMBP	23268	broad.mit.edu	37	10	101715080	101715080	+	Silent	SNP	G	G	C			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr10:101715080G>C	ENST00000324109.4	-	4	2242	c.2151C>G	c.(2149-2151)ctC>ctG	p.L717L	DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000342239.3_Silent_p.L717L	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	717					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		CCTCCAGCATGAGGTTTAGCT	0.483																																						ENST00000342239.3																			0				central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61						c.(2149-2151)ctC>ctG		dynamin binding protein							118.0	104.0	109.0					10																	101715080		2203	4300	6503	SO:0001819	synonymous_variant	23268				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr10:101715080G>C	AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.2151C>G	10.37:g.101715080G>C						DNMBP_ENST00000324109.4_Silent_p.L717L|DNMBP-AS1_ENST00000434409.1_RNA	p.L717L			Q6XZF7	DNMBP_HUMAN		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	4	2242	-		Colorectal(252;0.234)	717					Q8IVY3|Q9Y2L3	Silent	SNP	ENST00000324109.4	37	c.2151C>G	CCDS7485.1																																																																																				0.483	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		35	78	0	0	0	1	0	35	78				
VANGL2	57216	broad.mit.edu	37	1	160389070	160389070	+	Silent	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr1:160389070C>T	ENST00000368061.2	+	4	945	c.471C>T	c.(469-471)ctC>ctT	p.L157L		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	157					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCAAGCTGCTCATCCTGCTAC	0.657																																						ENST00000368061.2																			0				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37						c.(469-471)ctC>ctT		VANGL planar cell polarity protein 2							63.0	62.0	62.0					1																	160389070		2203	4300	6503	SO:0001819	synonymous_variant	57216				apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane		g.chr1:160389070C>T	AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"""vang, van gogh-like 2"", ""loop-tail-associated protein"", ""strabismus"""	600533	"""vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)"", ""vang-like 2 (van gogh, Drosophila)"""			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.471C>T	1.37:g.160389070C>T							p.L157L	NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		4	945	+	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		157					D3DVE9|Q5T212	Silent	SNP	ENST00000368061.2	37	c.471C>T	CCDS30915.1																																																																																				0.657	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080677.1	NM_020335		24	67	0	0	0	1	0	24	67				
MRPS24	64951	broad.mit.edu	37	7	43908573	43908573	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr7:43908573G>A	ENST00000317534.5	-	3	270	c.209C>T	c.(208-210)tCg>tTg	p.S70L	URGCP-MRPS24_ENST00000603700.1_3'UTR|MRPS24_ENST00000467084.1_5'UTR	NM_032014.2	NP_114403.1	Q96EL2	RT24_HUMAN	mitochondrial ribosomal protein S24	70					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrial small ribosomal subunit (GO:0005763)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5						TGTGTGCAGCGACAGCCAGCC	0.577																																						ENST00000317534.5																			0				large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5						c.(208-210)tCg>tTg		mitochondrial ribosomal protein S24							75.0	69.0	71.0					7																	43908573		2203	4300	6503	SO:0001583	missense	64951				translation	mitochondrial large ribosomal subunit|mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr7:43908573G>A	AB061207	CCDS5473.1	7p14	2012-09-13			ENSG00000062582	ENSG00000062582		"""Mitochondrial ribosomal proteins / small subunits"""	14510	protein-coding gene	gene with protein product		611986				8127713, 11279123	Standard	NM_032014		Approved	MRP-S24, HSPC335	uc003tit.1	Q96EL2	OTTHUMG00000023175	ENST00000317534.5:c.209C>T	7.37:g.43908573G>A	ENSP00000318158:p.Ser70Leu					RP5-1165K10.1_ENST00000603700.1_3'UTR|MRPS24_ENST00000467084.1_5'UTR	p.S70L	NM_032014.2	NP_114403.1	Q96EL2	RT24_HUMAN			3	270	-			70					A4D1U9|P82668|Q96Q23|Q9P047	Missense_Mutation	SNP	ENST00000317534.5	37	c.209C>T	CCDS5473.1	.	.	.	.	.	.	.	.	.	.	G	35	5.555461	0.96514	.	.	ENSG00000062582	ENST00000317534	T	0.54866	0.55	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.76513	0.3998	M	0.88570	2.965	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82141	-0.0604	10	0.87932	D	0	.	15.2475	0.73517	0.0:0.0:1.0:0.0	.	70	Q96EL2	RT24_HUMAN	L	70	ENSP00000318158:S70L	ENSP00000318158:S70L	S	-	2	0	MRPS24	43875098	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	8.759000	0.91667	2.177000	0.69029	0.563000	0.77884	TCG		0.577	MRPS24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250949.1	NM_032014		10	39	0	0	0	1	0	10	39				
RAI2	10742	broad.mit.edu	37	X	17819888	17819888	+	Silent	SNP	C	C	G			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chrX:17819888C>G	ENST00000545871.1	-	3	703	c.243G>C	c.(241-243)ctG>ctC	p.L81L	RAI2_ENST00000360011.1_Silent_p.L81L|RAI2_ENST00000415486.3_Intron|RAI2_ENST00000451717.1_Silent_p.L81L|RAI2_ENST00000331511.1_Silent_p.L81L	NM_001172739.1|NM_001172743.1	NP_001166210|NP_001166214	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	81					embryo development (GO:0009790)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					CCCCGAGGCACAGGGGCTGCA	0.622																																						ENST00000545871.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22						c.(241-243)ctG>ctC		retinoic acid induced 2							64.0	63.0	63.0					X																	17819888		2203	4300	6503	SO:0001819	synonymous_variant	10742				embryo development			g.chrX:17819888C>G	Z93242	CCDS14183.1, CCDS55374.1	Xp22	2008-02-05			ENSG00000131831	ENSG00000131831			9835	protein-coding gene	gene with protein product		300217				10049581, 10394933	Standard	NR_033348		Approved		uc010nfa.3	Q9Y5P3	OTTHUMG00000021209	ENST00000545871.1:c.243G>C	X.37:g.17819888C>G						RAI2_ENST00000451717.1_Silent_p.L81L|RAI2_ENST00000415486.3_Intron|RAI2_ENST00000360011.1_Silent_p.L81L|RP3-389A20.4_ENST00000509491.2_Silent_p.L47L|RAI2_ENST00000331511.1_Silent_p.L81L	p.L81L	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	Q9Y5P3	RAI2_HUMAN			3	703	-	Hepatocellular(33;0.183)		81					B1B1K2|B4DQM9|E7EMN4|Q8N6X7	Silent	SNP	ENST00000545871.1	37	c.243G>C	CCDS14183.1																																																																																				0.622	RAI2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055937.1	NM_021785		54	116	0	0	0	1	0	54	116				
PDHA2	5161	broad.mit.edu	37	4	96762177	96762177	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr4:96762177G>A	ENST00000295266.4	+	1	939	c.876G>A	c.(874-876)atG>atA	p.M292I		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	292					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		GACACAGTATGAGTGATCCTG	0.423																																						ENST00000295266.4																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46						c.(874-876)atG>atA		pyruvate dehydrogenase (lipoamide) alpha 2	NADH(DB00157)						104.0	102.0	103.0					4																	96762177		2203	4300	6503	SO:0001583	missense	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96762177G>A		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.876G>A	4.37:g.96762177G>A	ENSP00000295266:p.Met292Ile						p.M292I	NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	1	939	+		Hepatocellular(203;0.114)	292					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	ENST00000295266.4	37	c.876G>A	CCDS3644.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.739632	0.69304	.	.	ENSG00000163114	ENST00000295266	D	0.95980	-3.87	4.91	4.07	0.47477	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.96448	0.8841	M	0.78637	2.42	0.58432	D	0.999998	P	0.47409	0.895	P	0.55011	0.766	D	0.96414	0.9306	10	0.72032	D	0.01	-17.4239	11.2932	0.49263	0.0887:0.0:0.9113:0.0	.	292	P29803	ODPAT_HUMAN	I	292	ENSP00000295266:M292I	ENSP00000295266:M292I	M	+	3	0	PDHA2	96981200	1.000000	0.71417	0.981000	0.43875	0.980000	0.70556	4.763000	0.62257	1.456000	0.47831	0.467000	0.42956	ATG		0.423	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			22	72	0	0	0	1	0	22	72				
ADCY1	107	broad.mit.edu	37	7	45662327	45662327	+	Silent	SNP	C	C	T	rs143472730		TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr7:45662327C>T	ENST00000297323.7	+	4	1027	c.1005C>T	c.(1003-1005)ttC>ttT	p.F335F	ADCY1_ENST00000432715.1_Silent_p.F110F	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	335					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.F335F(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TCGGCAAGTTCGATGAATTAG	0.488													C|||	1	0.000199681	0.0	0.0	5008	,	,		20567	0.0		0.001	False		,,,				2504	0.0					ENST00000297323.7																			1	Substitution - coding silent(1)	p.F335F(1)	large_intestine(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(1003-1005)ttC>ttT		adenylate cyclase 1 (brain)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	C		0,4406		0,0,2203	94.0	83.0	86.0		1005	-0.6	1.0	7	dbSNP_134	86	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	ADCY1	NM_021116.2		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		335/1120	45662327	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45662327C>T	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.1005C>T	7.37:g.45662327C>T						ADCY1_ENST00000432715.1_Silent_p.F110F	p.F335F	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN			4	1027	+			335					A4D2L8|Q75MI1	Silent	SNP	ENST00000297323.7	37	c.1005C>T	CCDS34631.1																																																																																				0.488	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		17	23	0	0	0	1	0	17	23				
IGFBP1	3484	broad.mit.edu	37	7	45931564	45931564	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr7:45931564G>C	ENST00000275525.3	+	3	849	c.553G>C	c.(553-555)Gag>Cag	p.E185Q	IGFBP1_ENST00000457280.1_Missense_Mutation_p.E185Q|IGFBP1_ENST00000468955.1_Intron	NM_000596.2	NP_000587.1	P08833	IBP1_HUMAN	insulin-like growth factor binding protein 1	185	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)|tissue regeneration (GO:0042246)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	insulin-like growth factor binding (GO:0005520)			large_intestine(2)|lung(4)	6						CAGAGTCGTAGAGAGTTTAGC	0.413											OREG0018048	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000275525.3																			0				large_intestine(2)|lung(4)	6						c.(553-555)Gag>Cag		insulin-like growth factor binding protein 1							74.0	73.0	73.0					7																	45931564		2203	4300	6503	SO:0001583	missense	3484					extracellular space	insulin-like growth factor binding	g.chr7:45931564G>C		CCDS5504.1	7p12.3	2014-09-16			ENSG00000146678	ENSG00000146678			5469	protein-coding gene	gene with protein product	"""placental protein 12"", ""amniotic fluid binding protein"", ""alpha-pregnancy-associated endometrial globulin"", ""growth hormone independent-binding protein"", ""binding protein-28"", ""binding protein-26"", ""binding protein-25"", ""IGF-binding protein 1"""	146730		IBP1		2461294	Standard	NM_000596		Approved	IGF-BP25, AFBP, hIGFBP-1, PP12	uc003tnp.3	P08833	OTTHUMG00000152343	ENST00000275525.3:c.553G>C	7.37:g.45931564G>C	ENSP00000275525:p.Glu185Gln		OREG0018048	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	935	IGFBP1_ENST00000457280.1_Missense_Mutation_p.E185Q|IGFBP1_ENST00000468955.1_Intron	p.E185Q	NM_000596.2	NP_000587.1	P08833	IBP1_HUMAN			3	849	+			185			Thyroglobulin type-1.		A4D2F4|D3DVL9|Q8IYP5	Missense_Mutation	SNP	ENST00000275525.3	37	c.553G>C	CCDS5504.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.950460	0.53186	.	.	ENSG00000146678	ENST00000275525;ENST00000457280	T;T	0.64085	-0.08;-0.08	4.96	4.96	0.65561	Thyroglobulin type-1 (3);	0.275476	0.38326	N	0.001721	T	0.65004	0.2650	N	0.25060	0.705	0.80722	D	1	P;D	0.59767	0.899;0.986	P;D	0.63703	0.794;0.917	T	0.62661	-0.6807	10	0.29301	T	0.29	-12.3581	16.0603	0.80834	0.0:0.0:1.0:0.0	.	185;185	P08833;C9JXF9	IBP1_HUMAN;.	Q	185	ENSP00000275525:E185Q;ENSP00000413511:E185Q	ENSP00000275525:E185Q	E	+	1	0	IGFBP1	45898089	1.000000	0.71417	0.018000	0.16275	0.005000	0.04900	6.191000	0.72063	2.452000	0.82932	0.655000	0.94253	GAG		0.413	IGFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251355.2	NM_000596		15	37	0	0	0	1	0	15	37				
YLPM1	56252	broad.mit.edu	37	14	75266307	75266307	+	Nonsense_Mutation	SNP	T	T	G			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr14:75266307T>G	ENST00000325680.7	+	5	4431	c.4307T>G	c.(4306-4308)tTa>tGa	p.L1436*	YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Nonsense_Mutation_p.L1241*	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1241					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GATGCAAGCTTAGACTCTGAC	0.478																																						ENST00000325680.7																			0				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62						c.(4306-4308)tTa>tGa		YLP motif containing 1							118.0	110.0	113.0					14																	75266307		1948	4143	6091	SO:0001587	stop_gained	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75266307T>G	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000325680.7:c.4307T>G	14.37:g.75266307T>G	ENSP00000324463:p.Leu1436*					YLPM1_ENST00000238571.3_Nonsense_Mutation_p.L1241*|YLPM1_ENST00000552421.1_Intron	p.L1436*	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	5	4431	+			1241					P49752|Q96I64|Q9P1V7	Nonsense_Mutation	SNP	ENST00000325680.7	37	c.4307T>G	CCDS45135.1	.	.	.	.	.	.	.	.	.	.	T	40	8.351472	0.98772	.	.	ENSG00000119596	ENST00000325680;ENST00000238571;ENST00000423680	.	.	.	5.96	5.96	0.96718	.	0.000000	0.48286	D	0.000198	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-5.3188	16.4444	0.83913	0.0:0.0:0.0:1.0	.	.	.	.	X	1436;1241;1149	.	ENSP00000238571:L1241X	L	+	2	0	YLPM1	74336060	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.606000	0.67641	2.280000	0.76307	0.519000	0.50382	TTA		0.478	YLPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404451.1	NM_019589		51	115	0	0	0	1	0	51	115				
ALKBH2	121642	broad.mit.edu	37	12	109526161	109526161	+	Silent	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr12:109526161C>T	ENST00000429722.2	-	4	999	c.636G>A	c.(634-636)gcG>gcA	p.A212A	ALKBH2_ENST00000343075.3_Silent_p.A212A|ALKBH2_ENST00000440112.2_Missense_Mutation_p.R146Q	NM_001145374.1	NP_001138846.1	Q6NS38	ALKB2_HUMAN	alkB, alkylation repair homolog 2 (E. coli)	212	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|oxidative demethylation (GO:0070989)|oxidative DNA demethylation (GO:0035511)	nucleoplasm (GO:0005654)	cytosine C-5 DNA demethylase activity (GO:0051747)|DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)	p.A212A(1)		endometrium(1)|kidney(3)|large_intestine(1)|lung(3)	8					Vitamin C(DB00126)	GCCTGACCACCGCCACCCTCC	0.602								Direct reversal of damage																														ENST00000440112.2																			1	Substitution - coding silent(1)	p.A212A(1)	lung(1)	endometrium(1)|kidney(3)|large_intestine(1)|lung(3)	8						c.(436-438)cGg>cAg	Direct reversal of damage	alkB, alkylation repair homolog 2 (E. coli)	Vitamin C(DB00126)						90.0	95.0	93.0					12																	109526161		2203	4300	6503	SO:0001819	synonymous_variant	121642				DNA dealkylation involved in DNA repair|oxidative DNA demethylation	nucleoplasm	cytosine C-5 DNA demethylase activity|damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr12:109526161C>T	AY754389	CCDS31897.1, CCDS55883.1	12q24.11	2008-04-24			ENSG00000189046	ENSG00000189046		"""Alkylation repair homologs"""	32487	protein-coding gene	gene with protein product		610602					Standard	NM_001145374		Approved	MGC90512, ABH2	uc010sxj.1	Q6NS38	OTTHUMG00000169246	ENST00000429722.2:c.636G>A	12.37:g.109526161C>T						ALKBH2_ENST00000429722.2_Silent_p.A212A|ALKBH2_ENST00000343075.3_Silent_p.A212A	p.R146Q	NM_001205179.1|NM_001205180.1	NP_001192108.1|NP_001192109.1	Q6NS38	ALKB2_HUMAN			2	439	-			51					A4PET2|Q5XLE3	Missense_Mutation	SNP	ENST00000429722.2	37	c.437G>A	CCDS31897.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.389550	0.42410	.	.	ENSG00000189046	ENST00000440112	.	.	.	5.8	-2.15	0.07102	.	.	.	.	.	T	0.25827	0.0629	.	.	.	0.18873	N	0.999989	B	0.09022	0.002	B	0.08055	0.003	T	0.31194	-0.9952	7	0.87932	D	0	-9.1196	2.3537	0.04290	0.0964:0.3359:0.2589:0.3088	.	146	A4PET2	.	Q	146	.	ENSP00000399820:R146Q	R	-	2	0	ALKBH2	108010544	0.000000	0.05858	0.003000	0.11579	0.113000	0.19764	-0.677000	0.05215	-0.110000	0.12022	-0.126000	0.14955	CGG		0.602	ALKBH2-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403063.2	NM_001001655		7	169	0	0	0	1	0	7	169				
ZNF576	79177	broad.mit.edu	37	19	44103203	44103203	+	Silent	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr19:44103203G>A	ENST00000336564.4	+	3	460	c.306G>A	c.(304-306)ccG>ccA	p.P102P	ZNF576_ENST00000525771.1_Silent_p.P102P|SRRM5_ENST00000526798.1_Intron|ZNF576_ENST00000391965.2_Silent_p.P102P|SRRM5_ENST00000607544.1_Intron|ZNF576_ENST00000528387.1_Silent_p.P102P|ZNF576_ENST00000529930.1_Silent_p.P102P|IRGQ_ENST00000422989.1_5'Flank|ZNF576_ENST00000533118.1_Silent_p.P102P	NM_001145347.1	NP_001138819.1	Q9H609	ZN576_HUMAN	zinc finger protein 576	102					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(1)|prostate(1)	2		Prostate(69;0.0199)				CCACCCTGCCGGTTGCAACCA	0.632																																						ENST00000336564.4																			0				endometrium(1)|prostate(1)	2						c.(304-306)ccG>ccA		zinc finger protein 576							107.0	91.0	96.0					19																	44103203		2203	4300	6503	SO:0001819	synonymous_variant	79177				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44103203G>A	AK026353	CCDS12625.1	19q13.31	2013-09-20			ENSG00000124444	ENSG00000124444		"""Zinc fingers, C2H2-type"""	28357	protein-coding gene	gene with protein product						12477932	Standard	NM_024327		Approved	MGC2508	uc002owz.2	Q9H609	OTTHUMG00000165479	ENST00000336564.4:c.306G>A	19.37:g.44103203G>A						SRRM5_ENST00000607544.1_Intron|ZNF576_ENST00000525771.1_Silent_p.P102P|ZNF576_ENST00000528387.1_Silent_p.P102P|ZNF576_ENST00000529930.1_Silent_p.P102P|SRRM5_ENST00000526798.1_Intron|ZNF576_ENST00000533118.1_Silent_p.P102P|ZNF576_ENST00000391965.2_Silent_p.P102P	p.P102P	NM_001145347.1	NP_001138819.1	Q9H609	ZN576_HUMAN			3	460	+		Prostate(69;0.0199)	102					Q9BU03	Silent	SNP	ENST00000336564.4	37	c.306G>A	CCDS12625.1																																																																																				0.632	ZNF576-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384397.1	NM_024327		35	82	0	0	0	1	0	35	82				
CPNE3	8895	broad.mit.edu	37	8	87567120	87567120	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr8:87567120C>T	ENST00000521271.1	+	15	1324	c.1162C>T	c.(1162-1164)Cag>Tag	p.Q388*	CPNE3_ENST00000198765.4_Nonsense_Mutation_p.Q388*	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	388	VWFA.				lipid metabolic process (GO:0006629)|protein phosphorylation (GO:0006468)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|transporter activity (GO:0005215)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						TTGTCTTCCTCAGATAAAACT	0.403																																						ENST00000521271.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(1162-1164)Cag>Tag		copine III							171.0	158.0	162.0					8																	87567120		2203	4300	6503	SO:0001587	stop_gained	8895				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity	g.chr8:87567120C>T	AB014536	CCDS6243.1	8q21	2008-07-03				ENSG00000085719			2316	protein-coding gene	gene with protein product		604207				9430674	Standard	NM_003909		Approved		uc003ydv.2	O75131		ENST00000521271.1:c.1162C>T	8.37:g.87567120C>T	ENSP00000430934:p.Gln388*					CPNE3_ENST00000198765.4_Nonsense_Mutation_p.Q388*	p.Q388*	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN			15	1324	+			388			VWFA.		A8KA47|Q8IYA1	Nonsense_Mutation	SNP	ENST00000521271.1	37	c.1162C>T	CCDS6243.1	.	.	.	.	.	.	.	.	.	.	C	37	6.004346	0.97195	.	.	ENSG00000085719	ENST00000198765;ENST00000521271	.	.	.	5.96	5.96	0.96718	.	0.111817	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-20.8893	20.4082	0.99013	0.0:1.0:0.0:0.0	.	.	.	.	X	388	.	ENSP00000198765:Q388X	Q	+	1	0	CPNE3	87636236	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.992000	0.56980	2.814000	0.96858	0.655000	0.94253	CAG		0.403	CPNE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374994.1			34	75	0	0	0	1	0	34	75				
IPO11	51194	broad.mit.edu	37	5	61779893	61779893	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr5:61779893C>T	ENST00000325324.6	+	11	1247	c.1078C>T	c.(1078-1080)Cct>Tct	p.P360S	IPO11_ENST00000409296.3_Missense_Mutation_p.P400S|KIF2A_ENST00000509663.2_Intron	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	360					ribosomal protein import into nucleus (GO:0006610)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		CTTCACATATCCTACTTTGAC	0.353																																						ENST00000325324.6																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30						c.(1078-1080)Cct>Tct		importin 11							77.0	80.0	79.0					5																	61779893		2203	4292	6495	SO:0001583	missense	51194					cytoplasm|nucleus	protein binding	g.chr5:61779893C>T	AF111109	CCDS34167.1, CCDS47217.1	5q12.1	2008-09-19			ENSG00000086200	ENSG00000086200		"""Importins"""	20628	protein-coding gene	gene with protein product		610889					Standard	NM_016338		Approved	RanBP11	uc011cqr.2	Q9UI26	OTTHUMG00000154400	ENST00000325324.6:c.1078C>T	5.37:g.61779893C>T	ENSP00000316651:p.Pro360Ser					KIF2A_ENST00000509663.2_Intron|IPO11_ENST00000409296.3_Missense_Mutation_p.P400S	p.P360S	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN		Lung(70;0.0613)	11	1247	+		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)	360					A6NGJ5|B4DZ73|D3DW98|Q8N5R2|Q9NSJ6|Q9NVB1	Missense_Mutation	SNP	ENST00000325324.6	37	c.1078C>T	CCDS34167.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.763659	0.49574	.	.	ENSG00000086200	ENST00000325324;ENST00000409296	T;T	0.69306	-0.39;-0.39	5.39	5.39	0.77823	Armadillo-like helical (1);Armadillo-type fold (1);	0.155271	0.64402	D	0.000014	T	0.37919	0.1021	N	0.00841	-1.15	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.39187	-0.9626	10	0.15066	T	0.55	.	19.1414	0.93448	0.0:1.0:0.0:0.0	.	400;360	Q9UI26-2;Q9UI26	.;IPO11_HUMAN	S	360;400	ENSP00000316651:P360S;ENSP00000386992:P400S	ENSP00000316651:P360S	P	+	1	0	IPO11	61815650	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.958000	0.70330	2.515000	0.84797	0.563000	0.77884	CCT		0.353	IPO11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335062.1	NM_016338		12	135	0	0	0	1	0	12	135				
CTNNA2	1496	broad.mit.edu	37	2	80136794	80136794	+	Silent	SNP	C	C	T	rs35072200|rs141716387		TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr2:80136794C>T	ENST00000402739.4	+	6	932	c.927C>T	c.(925-927)agC>agT	p.S309S	CTNNA2_ENST00000541047.1_Silent_p.S309S|CTNNA2_ENST00000361291.4_Silent_p.S343S|CTNNA2_ENST00000540488.1_Silent_p.S309S|CTNNA2_ENST00000496558.1_Silent_p.S309S|CTNNA2_ENST00000466387.1_Silent_p.S309S	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	309				S -> SS (in Ref. 5; AAY15008). {ECO:0000305}.	axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GGCTGGAGAGCATCATCAGCG	0.632																																						ENST00000466387.1																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(925-927)agC>agT		catenin (cadherin-associated protein), alpha 2							51.0	57.0	55.0					2																	80136794		1998	4190	6188	SO:0001819	synonymous_variant	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80136794C>T		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.927C>T	2.37:g.80136794C>T						CTNNA2_ENST00000361291.4_Silent_p.S343S|CTNNA2_ENST00000402739.4_Silent_p.S309S|CTNNA2_ENST00000496558.1_Silent_p.S309S|CTNNA2_ENST00000540488.1_Silent_p.S309S|CTNNA2_ENST00000541047.1_Silent_p.S309S	p.S309S			P26232	CTNA2_HUMAN			11	1651	+			309	S -> SS (in Ref. 5; AAY15008).				B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Silent	SNP	ENST00000402739.4	37	c.927C>T																																																																																					0.632	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		27	83	0	0	0	1	0	27	83				
ATP8B2	57198	broad.mit.edu	37	1	154319226	154319226	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr1:154319226G>A	ENST00000368489.3	+	26	3254	c.3254G>A	c.(3253-3255)cGg>cAg	p.R1085Q		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	1071					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AACCAGTTCCGGTTTGTGGGT	0.493																																						ENST00000368489.3																		IL6R/ATP8B2(2)	0				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(3253-3255)cGg>cAg		ATPase, aminophospholipid transporter, class I, type 8B, member 2							148.0	123.0	131.0					1																	154319226		2203	4300	6503	SO:0001583	missense	57198				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr1:154319226G>A	AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.3254G>A	1.37:g.154319226G>A	ENSP00000357475:p.Arg1085Gln						p.R1085Q	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		26	3254	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		1071					B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	ENST00000368489.3	37	c.3254G>A	CCDS1066.1	.	.	.	.	.	.	.	.	.	.	G	8.892	0.954117	0.18431	.	.	ENSG00000143515	ENST00000368489	T	0.38722	1.12	4.91	4.91	0.64330	.	0.299915	0.29473	N	0.012049	T	0.09818	0.0241	N	0.03238	-0.38	0.80722	D	1	P	0.43231	0.801	B	0.40602	0.334	T	0.07829	-1.0752	10	0.12766	T	0.61	.	12.6929	0.56985	0.0:0.166:0.834:0.0	.	1085	P98198-3	.	Q	1085	ENSP00000357475:R1085Q	ENSP00000357475:R1085Q	R	+	2	0	ATP8B2	152585850	0.868000	0.29978	1.000000	0.80357	0.963000	0.63663	1.085000	0.30840	2.547000	0.85894	0.655000	0.94253	CGG		0.493	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452		30	86	0	0	0	1	0	30	86				
CNGB3	54714	broad.mit.edu	37	8	87590976	87590976	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr8:87590976C>T	ENST00000320005.5	-	17	2091	c.2044G>A	c.(2044-2046)Ggc>Agc	p.G682S		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	682					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.G682S(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TTTCCTGTGCCTCCTAGGAGA	0.493																																						ENST00000320005.5																			1	Substitution - Missense(1)	p.G682S(1)	large_intestine(1)	NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						c.(2044-2046)Ggc>Agc		cyclic nucleotide gated channel beta 3							168.0	157.0	161.0					8																	87590976		2203	4300	6503	SO:0001583	missense	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87590976C>T	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.2044G>A	8.37:g.87590976C>T	ENSP00000316605:p.Gly682Ser						p.G682S	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN			17	2091	-			682					C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	c.2044G>A	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	C	7.925	0.739361	0.15642	.	.	ENSG00000170289	ENST00000517327;ENST00000320005	T;T	0.76709	-1.04;0.23	5.34	-0.76	0.11041	.	0.637827	0.14922	N	0.290583	T	0.58075	0.2097	N	0.19112	0.55	0.09310	N	1	B;B	0.16166	0.016;0.009	B;B	0.23852	0.049;0.022	T	0.41233	-0.9520	10	0.08837	T	0.75	.	9.7421	0.40424	0.0:0.5746:0.0:0.4254	.	677;682	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	S	73;682	ENSP00000428329:G73S;ENSP00000316605:G682S	ENSP00000316605:G682S	G	-	1	0	CNGB3	87660092	0.004000	0.15560	0.000000	0.03702	0.255000	0.26057	0.333000	0.19768	-0.509000	0.06532	0.467000	0.42956	GGC		0.493	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		27	61	0	0	0	1	0	27	61				
GJA4	2701	broad.mit.edu	37	1	35260555	35260555	+	Silent	SNP	C	C	T	rs368424355		TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr1:35260555C>T	ENST00000342280.4	+	2	829	c.741C>T	c.(739-741)gaC>gaT	p.D247D		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	247					blood vessel development (GO:0001568)|calcium ion transport (GO:0006816)|cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|endothelium development (GO:0003158)|response to pain (GO:0048265)|transport (GO:0006810)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				AAGGCCAAGACGCACCCCCGA	0.652																																						ENST00000342280.4																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14						c.(739-741)gaC>gaT		gap junction protein, alpha 4, 37kDa		C		0,4406		0,0,2203	66.0	71.0	69.0		741	-9.2	0.0	1		69	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GJA4	NM_002060.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		247/334	35260555	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2701				cell-cell junction assembly	integral to plasma membrane		g.chr1:35260555C>T	M96789	CCDS30669.1	1p35.1	2008-02-05	2007-01-16		ENSG00000187513	ENSG00000187513		"""Ion channels / Gap junction proteins (connexins)"""	4278	protein-coding gene	gene with protein product	"""connexin 37"""	121012	"""gap junction protein, alpha 4, 37kD (connexin 37)"", ""gap junction protein, alpha 4, 37kDa (connexin 37)"""			9843209, 7680674	Standard	XM_005270750		Approved	CX37	uc001bya.3	P35212	OTTHUMG00000004050	ENST00000342280.4:c.741C>T	1.37:g.35260555C>T							p.D247D	NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN			2	829	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)	247					A8K698|D3DPR4|Q9P106|Q9UBL1|Q9UNA9|Q9UNB0|Q9UNB1|Q9Y5N7	Silent	SNP	ENST00000342280.4	37	c.741C>T	CCDS30669.1																																																																																				0.652	GJA4-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011556.1	NM_002060		8	31	0	0	0	1	0	8	31				
PLA2G6	8398	broad.mit.edu	37	22	38565425	38565425	+	Silent	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr22:38565425G>A	ENST00000332509.3	-	2	192	c.9C>T	c.(7-9)ttC>ttT	p.F3F	PLA2G6_ENST00000435484.1_Silent_p.F3F|PLA2G6_ENST00000447598.2_Silent_p.F3F|PLA2G6_ENST00000335539.3_Silent_p.F3F|PLA2G6_ENST00000402064.1_Silent_p.F3F|PLA2G6_ENST00000417303.2_Silent_p.F3F|PLA2G6_ENST00000436218.1_Silent_p.F3F	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	3					cardiolipin acyl-chain remodeling (GO:0035965)|cardiolipin biosynthetic process (GO:0032049)|cell death (GO:0008219)|chemotaxis (GO:0006935)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of exocytosis (GO:0045921)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of vasodilation (GO:0045909)|regulation of store-operated calcium channel activity (GO:1901339)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|urinary bladder smooth muscle contraction (GO:0014832)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipase A2 activity (GO:0004623)			breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	GGCGGCCAAAGAACTGCATCT	0.597																																						ENST00000332509.3																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24						c.(7-9)ttC>ttT		phospholipase A2, group VI (cytosolic, calcium-independent)	Quinacrine(DB01103)						65.0	52.0	57.0					22																	38565425		2203	4300	6503	SO:0001819	synonymous_variant	8398				cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane		g.chr22:38565425G>A	AF064594	CCDS13967.1, CCDS33645.1	22q13.1	2013-01-10			ENSG00000184381	ENSG00000184381	3.1.1.4	"""Patatin-like phospholipase domain containing"", ""Parkinson disease"", ""Ankyrin repeat domain containing"""	9039	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 2"""	603604				9417066, 16799181, 19029121	Standard	NM_001199562		Approved	iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2	uc003aux.1	O60733	OTTHUMG00000151246	ENST00000332509.3:c.9C>T	22.37:g.38565425G>A						PLA2G6_ENST00000402064.1_Silent_p.F3F|PLA2G6_ENST00000335539.3_Silent_p.F3F	p.F3F	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN			2	192	-	Melanoma(58;0.045)		3					A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Silent	SNP	ENST00000332509.3	37	c.9C>T	CCDS13967.1																																																																																				0.597	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321860.1	NM_001004426		7	21	0	0	0	1	0	7	21				
FMNL3	91010	broad.mit.edu	37	12	50050210	50050210	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr12:50050210C>T	ENST00000293590.5	-	9	1095	c.862G>A	c.(862-864)Gct>Act	p.A288T	FMNL3_ENST00000352151.5_Missense_Mutation_p.A237T|FMNL3_ENST00000335154.5_Missense_Mutation_p.A288T|FMNL3_ENST00000550488.1_Missense_Mutation_p.A288T			Q8IVF7	FMNL3_HUMAN	formin-like 3	288	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TCAAAGGCAGCAAGGATGATT	0.507																																						ENST00000335154.5																			0				breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						c.(862-864)Gct>Act		formin-like 3							81.0	82.0	82.0					12																	50050210		2024	4210	6234	SO:0001583	missense	91010				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr12:50050210C>T	AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.862G>A	12.37:g.50050210C>T	ENSP00000293590:p.Ala288Thr					FMNL3_ENST00000293590.5_Missense_Mutation_p.A288T|FMNL3_ENST00000550488.1_Missense_Mutation_p.A288T|FMNL3_ENST00000352151.5_Missense_Mutation_p.A237T	p.A288T	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN			9	1095	-			288			GBD/FH3.		B0JZA7|Q6ZRJ1	Missense_Mutation	SNP	ENST00000293590.5	37	c.862G>A		.	.	.	.	.	.	.	.	.	.	C	19.15	3.772321	0.69992	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7	5.44	4.49	0.54785	.	0.059705	0.64402	D	0.000002	T	0.70579	0.3240	L	0.27053	0.805	0.43234	D	0.995133	P;B	0.36909	0.573;0.4	B;B	0.33960	0.143;0.173	T	0.68599	-0.5366	10	0.25106	T	0.35	.	12.3821	0.55313	0.2782:0.7218:0.0:0.0	.	237;288	Q8IVF7-2;Q8IVF7-3	.;.	T	288;288;237;288	ENSP00000335655:A288T;ENSP00000447479:A288T;ENSP00000344311:A237T;ENSP00000293590:A288T	ENSP00000293590:A288T	A	-	1	0	FMNL3	48336477	0.610000	0.26983	1.000000	0.80357	0.999000	0.98932	1.291000	0.33330	2.732000	0.93576	0.655000	0.94253	GCT		0.507	FMNL3-201	KNOWN	basic	protein_coding	protein_coding		NM_175736		7	28	0	0	0	1	0	7	28				
UIMC1	51720	broad.mit.edu	37	5	176397841	176397841	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr5:176397841G>C	ENST00000377227.4	-	4	391	c.259C>G	c.(259-261)Ctg>Gtg	p.L87V	UIMC1_ENST00000511320.1_Missense_Mutation_p.L87V|UIMC1_ENST00000377219.2_Missense_Mutation_p.L87V|UIMC1_ENST00000503273.1_5'Flank|UIMC1_ENST00000506128.1_Missense_Mutation_p.L87V			Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	87	Glu-rich.|Necessary for transcriptional repression.				double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|histone H2A K63-linked deubiquitination (GO:0070537)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)	BRCA1-A complex (GO:0070531)|nucleus (GO:0005634)	histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)			NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTGAGAGCCAGAGCAAACTGT	0.458																																						ENST00000377219.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21						c.(259-261)Ctg>Gtg		ubiquitin interaction motif containing 1							107.0	105.0	105.0					5																	176397841		2203	4300	6503	SO:0001583	missense	51720				double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	histone binding|K63-linked polyubiquitin binding	g.chr5:176397841G>C	AF349313	CCDS4408.1	5q35.2	2008-02-05			ENSG00000087206	ENSG00000087206			30298	protein-coding gene	gene with protein product	"""receptor associated protein 80"""	609433				12080054	Standard	NM_001199297		Approved	RAP80	uc021yin.1	Q96RL1	OTTHUMG00000130852	ENST00000377227.4:c.259C>G	5.37:g.176397841G>C	ENSP00000366434:p.Leu87Val					UIMC1_ENST00000377227.4_Missense_Mutation_p.L87V|UIMC1_ENST00000506128.1_Missense_Mutation_p.L87V|UIMC1_ENST00000511320.1_Missense_Mutation_p.L87V	p.L87V	NM_016290.4	NP_057374.3	Q96RL1	UIMC1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	425	-	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	87			Glu-rich.|Necessary for transcriptional repression.		A8MSA1|B3KMZ1|B4E3N2|Q5XKQ1|Q7Z3W7|Q8N5B9|Q9BZR1|Q9BZR5|Q9UHX7	Missense_Mutation	SNP	ENST00000377227.4	37	c.259C>G	CCDS4408.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.712197	0.68730	.	.	ENSG00000087206	ENST00000377227;ENST00000377219;ENST00000511320;ENST00000506128;ENST00000377220;ENST00000509236;ENST00000507513	T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56	5.65	2.76	0.32466	Ubiquitin interacting motif (2);	0.000000	0.49916	D	0.000127	T	0.49626	0.1568	M	0.63843	1.955	0.39673	D	0.970782	D;D;D	0.89917	0.992;1.0;1.0	D;D;D	0.85130	0.984;0.997;0.996	T	0.54384	-0.8302	10	0.87932	D	0	-4.9271	11.4673	0.50246	0.2169:0.0:0.7831:0.0	.	87;87;87	Q96RL1-5;Q96RL1;D6RCF3	.;UIMC1_HUMAN;.	V	87;87;87;87;9;87;87	ENSP00000366434:L87V;ENSP00000366425:L87V;ENSP00000421926:L87V;ENSP00000427480:L87V;ENSP00000423885:L87V;ENSP00000425163:L87V	ENSP00000366425:L87V	L	-	1	2	UIMC1	176330447	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.189000	0.32114	0.904000	0.36572	0.561000	0.74099	CTG		0.458	UIMC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253422.1	NM_016290		14	95	0	0	0	1	0	14	95				
RAP1GAP2	23108	broad.mit.edu	37	17	2923848	2923848	+	Silent	SNP	G	G	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr17:2923848G>T	ENST00000254695.8	+	19	1800	c.1710G>T	c.(1708-1710)ctG>ctT	p.L570L	RAP1GAP2_ENST00000366401.4_Silent_p.L555L|RAP1GAP2_ENST00000542807.1_Silent_p.L570L|RAP1GAP2_ENST00000540393.2_Silent_p.L551L	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	570					negative regulation of neuron projection development (GO:0010977)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|nuclear membrane (GO:0031965)	Rap GTPase activator activity (GO:0046582)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						TCCCCCGCCTGCACACGGGCT	0.627																																						ENST00000254695.8																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(1708-1710)ctG>ctT		RAP1 GTPase activating protein 2							26.0	33.0	31.0					17																	2923848		1937	4121	6058	SO:0001819	synonymous_variant	23108				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity	g.chr17:2923848G>T	AB028962	CCDS45573.1, CCDS45574.1	17p13.3	2009-09-14	2009-09-14	2009-09-14		ENSG00000132359			29176	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 4"", ""GTPase activating Rap/RanGAP domain-like 4"""	GARNL4		15632203	Standard	NM_015085		Approved	KIAA1039	uc010ckd.3	Q684P5		ENST00000254695.8:c.1710G>T	17.37:g.2923848G>T						RAP1GAP2_ENST00000366401.4_Silent_p.L555L|RAP1GAP2_ENST00000540393.2_Silent_p.L551L|RAP1GAP2_ENST00000542807.1_Silent_p.L570L	p.L570L	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN			19	1800	+			570					B2RTY5|Q684P4|Q6AI00|Q6ZVF0|Q9UPW2	Silent	SNP	ENST00000254695.8	37	c.1710G>T	CCDS45573.1																																																																																				0.627	RAP1GAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438208.2			7	21	1	0	0.248553	1	0.248553	7	21				
SCO2	9997	broad.mit.edu	37	22	50962301	50962301	+	Silent	SNP	G	G	A	rs375795527		TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr22:50962301G>A	ENST00000543927.1	-	2	746	c.540C>T	c.(538-540)taC>taT	p.Y180Y	SCO2_ENST00000535425.1_Silent_p.Y180Y|CTA-384D8.36_ENST00000608319.1_RNA|SCO2_ENST00000395693.3_Silent_p.Y180Y|SCO2_ENST00000252785.3_Silent_p.Y180Y	NM_001169109.1	NP_001162580.1	O43819	SCO2_HUMAN	SCO2 cytochrome c oxidase assembly protein	180	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cellular copper ion homeostasis (GO:0006878)|copper ion transport (GO:0006825)|eye development (GO:0001654)|in utero embryonic development (GO:0001701)|muscle system process (GO:0003012)|oxidation-reduction process (GO:0055114)|respiratory chain complex IV assembly (GO:0008535)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|nucleus (GO:0005634)	copper ion binding (GO:0005507)			endometrium(1)|lung(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGTCCTGGACGTAGCGGGCCA	0.607																																						ENST00000543927.1																			0				endometrium(1)|lung(1)	2						c.(538-540)taC>taT		SCO2 cytochrome c oxidase assembly protein		G	,,,,,	0,4406		0,0,2203	94.0	83.0	87.0		540,540,540,,540,	-3.2	0.2	22		87	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,utr-3,coding-synonymous,utr-3	SCO2,NCAPH2	NM_001169109.1,NM_001169110.1,NM_001169111.1,NM_001185011.1,NM_005138.2,NM_152299.3	,,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,,	180/267,180/267,180/267,,180/267,	50962301	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9997				cell redox homeostasis|cellular copper ion homeostasis|copper ion transport|oxidation-reduction process|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding	g.chr22:50962301G>A	AL021683	CCDS14095.1	22q13.33	2014-01-30	2012-10-15		ENSG00000130489	ENSG00000130489		"""Mitochondrial respiratory chain complex assembly factors"""	10604	protein-coding gene	gene with protein product		604272	"""SCO (cytochrome oxidase deficient, yeast) homolog 2"", ""SCO cytochrome oxidase deficient homolog 2 (yeast)"", ""myopia 6"""	MYP6		10218584, 16091356, 23643385	Standard	NM_005138		Approved	SCO1L	uc003bma.3	O43819	OTTHUMG00000150251	ENST00000543927.1:c.540C>T	22.37:g.50962301G>A						SCO2_ENST00000535425.1_Silent_p.Y180Y|SCO2_ENST00000252785.3_Silent_p.Y180Y|SCO2_ENST00000395693.3_Silent_p.Y180Y	p.Y180Y	NM_001169109.1	NP_001162580.1	O43819	SCO2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	2	746	-		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	180			Thioredoxin.		Q3T1B5|Q9UK87	Silent	SNP	ENST00000543927.1	37	c.540C>T	CCDS14095.1																																																																																				0.607	SCO2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317091.1	NM_005138		18	58	0	0	0	1	0	18	58				
STARD5	80765	broad.mit.edu	37	15	81605705	81605705	+	Silent	SNP	G	G	T	rs200366069		TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr15:81605705G>T	ENST00000302824.6	-	6	559	c.534C>A	c.(532-534)acC>acA	p.T178T		NM_181900.2	NP_871629.1	Q9NSY2	STAR5_HUMAN	StAR-related lipid transfer (START) domain containing 5	178	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				C21-steroid hormone biosynthetic process (GO:0006700)|lipid transport (GO:0006869)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytosol (GO:0005829)	lipid binding (GO:0008289)	p.T178T(1)		large_intestine(3)|ovary(1)|skin(1)|stomach(1)	6						CGCTGAGGTCGGTATGGAAGA	0.557																																						ENST00000302824.6																			1	Substitution - coding silent(1)	p.T178T(1)	ovary(1)	large_intestine(3)|ovary(1)|skin(1)|stomach(1)	6						c.(532-534)acC>acA		StAR-related lipid transfer (START) domain containing 5							196.0	167.0	177.0					15																	81605705		2203	4300	6503	SO:0001819	synonymous_variant	80765				C21-steroid hormone biosynthetic process|lipid transport	cytosol	lipid binding	g.chr15:81605705G>T	AF480304	CCDS10318.1	15q26	2011-09-12	2007-08-16		ENSG00000172345	ENSG00000172345		"""StAR-related lipid transfer (START) domain containing"""	18065	protein-coding gene	gene with protein product		607050	"""START domain containing 5"""			12011452	Standard	NM_181900		Approved	MGC10327	uc002bgm.3	Q9NSY2	OTTHUMG00000147342	ENST00000302824.6:c.534C>A	15.37:g.81605705G>T							p.T178T	NM_181900.2	NP_871629.1	Q9NSY2	STAR5_HUMAN			6	559	-			178			START.		P59094	Silent	SNP	ENST00000302824.6	37	c.534C>A	CCDS10318.1																																																																																				0.557	STARD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303950.2			30	66	1	0	1.39806e-14	1	1.48417e-14	30	66				
NOTCH1	4851	broad.mit.edu	37	9	139409131	139409131	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr9:139409131C>T	ENST00000277541.6	-	13	2113	c.2038G>A	c.(2038-2040)Gat>Aat	p.D680N		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	680	EGF-like 18; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCACACTCATCGATGTTGATG	0.652			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(2038-2040)Gat>Aat		notch 1							30.0	39.0	36.0					9																	139409131		2137	4246	6383	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139409131C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.2038G>A	9.37:g.139409131C>T	ENSP00000277541:p.Asp680Asn	HNSCC(8;0.001)					p.D680N	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	13	2113	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	680			EGF-like 18; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.2038G>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	9.611	1.131351	0.21041	.	.	ENSG00000148400	ENST00000277541	D	0.95482	-3.72	5.45	3.61	0.41365	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.101668	0.64402	D	0.000004	D	0.88687	0.6504	N	0.20357	0.565	0.58432	D	0.999999	B	0.32939	0.391	B	0.31016	0.123	D	0.84896	0.0839	10	0.17832	T	0.49	.	10.5685	0.45186	0.0:0.8451:0.0:0.1549	.	680	P46531	NOTC1_HUMAN	N	680	ENSP00000277541:D680N	ENSP00000277541:D680N	D	-	1	0	NOTCH1	138528952	0.995000	0.38212	0.771000	0.31576	0.003000	0.03518	3.220000	0.51207	1.315000	0.45114	-0.136000	0.14681	GAT		0.652	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		6	28	0	0	0	1	0	6	28				
NPY5R	4889	broad.mit.edu	37	4	164272649	164272649	+	Silent	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr4:164272649C>T	ENST00000515560.1	+	4	2746	c.1224C>T	c.(1222-1224)tgC>tgT	p.C408C	NPY5R_ENST00000338566.3_Silent_p.C408C|NPY5R_ENST00000506953.1_Silent_p.C408C			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	408					cardiac left ventricle morphogenesis (GO:0003214)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of smooth muscle cell proliferation (GO:0048661)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				TGGTGTATTGCATTTGTCATT	0.343																																					Melanoma(139;1287 1774 9781 19750 25599)	ENST00000515560.1																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1222-1224)tgC>tgT		neuropeptide Y receptor Y5							157.0	151.0	153.0					4																	164272649		2203	4300	6503	SO:0001819	synonymous_variant	4889				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		g.chr4:164272649C>T	BC042416	CCDS3804.1	4q31-q32	2012-08-08				ENSG00000164129		"""GPCR / Class A : Neuropeptide receptors : Y"""	7958	protein-coding gene	gene with protein product		602001				8700207, 9417917	Standard	NM_006174		Approved	NPYR5	uc003iqn.3	Q15761		ENST00000515560.1:c.1224C>T	4.37:g.164272649C>T						NPY5R_ENST00000506953.1_Silent_p.C408C|NPY5R_ENST00000338566.3_Silent_p.C408C	p.C408C			Q15761	NPY5R_HUMAN			4	2746	+	all_hematologic(180;0.166)	Prostate(90;0.109)	408					Q6GTR7|Q92916	Silent	SNP	ENST00000515560.1	37	c.1224C>T	CCDS3804.1																																																																																				0.343	NPY5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364633.1	NM_006174		43	83	0	0	0	1	0	43	83				
WDR59	79726	broad.mit.edu	37	16	74908238	74908238	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr16:74908238G>A	ENST00000262144.6	-	26	2924	c.2794C>T	c.(2794-2796)Cgg>Tgg	p.R932W		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	932										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						GACGATCCCCGCACAGCCACG	0.627																																						ENST00000262144.6																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						c.(2794-2796)Cgg>Tgg		WD repeat domain 59							75.0	59.0	64.0					16																	74908238		2198	4300	6498	SO:0001583	missense	79726							g.chr16:74908238G>A	AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"""WD repeat domain containing"""	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.2794C>T	16.37:g.74908238G>A	ENSP00000262144:p.Arg932Trp						p.R932W	NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN			26	2924	-			932					B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Missense_Mutation	SNP	ENST00000262144.6	37	c.2794C>T	CCDS32488.1	.	.	.	.	.	.	.	.	.	.	G	19.32	3.805700	0.70682	.	.	ENSG00000103091	ENST00000262144	T	0.72282	-0.64	5.61	3.44	0.39384	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.85635	0.5742	M	0.87758	2.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.99;0.996	D	0.89212	0.3565	10	0.87932	D	0	-15.3467	16.1617	0.81721	0.0:0.0:0.7456:0.2544	.	932;377	Q6PJI9;Q6PJI9-4	WDR59_HUMAN;.	W	932	ENSP00000262144:R932W	ENSP00000262144:R932W	R	-	1	2	WDR59	73465739	1.000000	0.71417	0.897000	0.35233	0.712000	0.41017	4.683000	0.61679	1.352000	0.45808	0.591000	0.81541	CGG		0.627	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410601.3	NM_030581		14	39	0	0	0	1	0	14	39				
MLLT6	4302	broad.mit.edu	37	17	36868959	36868959	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr17:36868959G>A	ENST00000325718.7	+	8	827	c.736G>A	c.(736-738)Gaa>Aaa	p.E246K	CTB-58E17.9_ENST00000579499.1_RNA|MLLT6_ENST00000378137.5_Missense_Mutation_p.E246K	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	246					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					AAAGGACAAAGAACGCCTTAA	0.587			T	MLL	AL																																	ENST00000325718.7				Dom	yes		17	17q21	4302	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)"""			L	MLL		AL		0				breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.(736-738)Gaa>Aaa		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6							104.0	100.0	101.0					17																	36868959		2203	4300	6503	SO:0001583	missense	4302				regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding	g.chr17:36868959G>A		CCDS11327.1	17q21	2014-04-10	2001-11-28		ENSG00000108292	ENSG00000275023		"""Zinc fingers, PHD-type"""	7138	protein-coding gene	gene with protein product	"""Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6"", ""trithorax homolog"""	600328	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6"""			8058765	Standard	NM_005937		Approved	AF17, FLJ23480	uc002hqi.4	P55198	OTTHUMG00000188498	ENST00000325718.7:c.736G>A	17.37:g.36868959G>A	ENSP00000316426:p.Glu246Lys					MLLT6_ENST00000378137.5_Missense_Mutation_p.E246K	p.E246K	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN			8	827	+	Breast(7;4.43e-21)		246					Q59F28|Q96IU3|Q9H5F6|Q9UF49	Missense_Mutation	SNP	ENST00000325718.7	37	c.736G>A	CCDS11327.1	.	.	.	.	.	.	.	.	.	.	g	13.62	2.290509	0.40494	.	.	ENSG00000108292	ENST00000325718;ENST00000378137	D;T	0.81739	-1.53;2.48	4.33	3.33	0.38152	.	1.110270	0.06670	N	0.765944	T	0.74129	0.3676	L	0.50333	1.59	0.34443	D	0.699801	B;B;B	0.33694	0.421;0.421;0.139	B;B;B	0.27500	0.08;0.08;0.025	T	0.65668	-0.6112	10	0.21540	T	0.41	.	10.5266	0.44952	0.0:0.0:0.8061:0.1939	.	246;246;246	E9PEP1;Q6P2C6;P55198	.;.;AF17_HUMAN	K	246	ENSP00000316426:E246K;ENSP00000367377:E246K	ENSP00000316426:E246K	E	+	1	0	MLLT6	34122485	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.736000	0.62059	0.984000	0.38629	0.457000	0.33378	GAA		0.587	MLLT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256799.1	NM_005937		26	65	0	0	0	1	0	26	65				
ZFX	7543	broad.mit.edu	37	X	24229432	24229432	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chrX:24229432G>A	ENST00000379177.1	+	11	2784	c.2357G>A	c.(2356-2358)cGa>cAa	p.R786Q	ZFX_ENST00000338565.3_Missense_Mutation_p.R736Q|ZFX_ENST00000379188.3_Missense_Mutation_p.R786Q|ZFX_ENST00000539115.1_Missense_Mutation_p.R557Q|ZFX_ENST00000540034.1_Missense_Mutation_p.R825Q|ZFX_ENST00000304543.5_Missense_Mutation_p.R786Q	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	786					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)	p.R786Q(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						AAAGGCTTCCGAAGACCTTCA	0.443																																					Esophageal Squamous(20;306 562 7346 32868 37983)	ENST00000379177.1																			1	Substitution - Missense(1)	p.R786Q(1)	endometrium(1)	cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						c.(2356-2358)cGa>cAa		zinc finger protein, X-linked							81.0	68.0	72.0					X																	24229432		2203	4300	6503	SO:0001583	missense	7543				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chrX:24229432G>A		CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"""Zinc fingers, C2H2-type"""	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.2357G>A	X.37:g.24229432G>A	ENSP00000368475:p.Arg786Gln					ZFX_ENST00000539115.1_Missense_Mutation_p.R557Q|ZFX_ENST00000540034.1_Missense_Mutation_p.R825Q|ZFX_ENST00000304543.5_Missense_Mutation_p.R786Q|ZFX_ENST00000379188.3_Missense_Mutation_p.R786Q|ZFX_ENST00000338565.3_Missense_Mutation_p.R736Q	p.R786Q	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN			11	2784	+			786					B9EG97|O43668|Q8WYJ8	Missense_Mutation	SNP	ENST00000379177.1	37	c.2357G>A	CCDS14211.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.112457	0.77210	.	.	ENSG00000005889	ENST00000539115;ENST00000379188;ENST00000535562;ENST00000379177;ENST00000304543;ENST00000540034;ENST00000338565	T;T;T;T;T;T	0.53640	0.61;3.09;3.09;3.09;3.1;3.12	5.41	5.41	0.78517	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.56097	D	0.000040	T	0.52996	0.1769	L	0.59436	1.845	0.54753	D	0.999983	P;P;P	0.51449	0.945;0.904;0.836	B;P;B	0.45681	0.351;0.49;0.153	T	0.59413	-0.7459	10	0.72032	D	0.01	-6.7409	18.539	0.91020	0.0:0.0:1.0:0.0	.	825;508;786	B9EG97;F5GYV7;P17010	.;.;ZFX_HUMAN	Q	557;786;508;786;786;825;736	ENSP00000438233:R557Q;ENSP00000368486:R786Q;ENSP00000368475:R786Q;ENSP00000304985:R786Q;ENSP00000441382:R825Q;ENSP00000343384:R736Q	ENSP00000304985:R786Q	R	+	2	0	ZFX	24139353	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.813000	0.99286	2.407000	0.81776	0.594000	0.82650	CGA		0.443	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056084.1	NM_003410		44	85	0	0	0	1	0	44	85				
ZNF730	100129543	broad.mit.edu	37	19	23316887	23316887	+	Silent	SNP	G	G	A	rs547371895		TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr19:23316887G>A	ENST00000597761.2	+	2	208	c.9G>A	c.(7-9)gcG>gcA	p.A3A	ZNF730_ENST00000593635.1_De_novo_Start_InFrame	NM_001277403.1	NP_001264332.1	Q6ZMV8	ZN730_HUMAN	zinc finger protein 730	3					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						TTCAGGGAGCGTTGACATTTA	0.373																																						ENST00000593635.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16								zinc finger protein 730																																				SO:0001819	synonymous_variant	100129543							g.chr19:23316887G>A	AK131472	CCDS59371.1	19p12	2013-01-08			ENSG00000183850	ENSG00000183850		"""Zinc fingers, C2H2-type"", ""-"""	32470	protein-coding gene	gene with protein product							Standard	NM_001277403		Approved		uc031rkc.1	Q6ZMV8		ENST00000597761.2:c.9G>A	19.37:g.23316887G>A						ZNF730_ENST00000597761.2_Silent_p.A3A								0	184	+									Translation_Start_Site	SNP	ENST00000597761.2	37		CCDS59371.1																																																																																				0.373	ZNF730-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465737.2	XM_001719792		26	50	0	0	0	1	0	26	50				
SNX19	399979	broad.mit.edu	37	11	130785198	130785198	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr11:130785198G>A	ENST00000265909.4	-	1	1206	c.637C>T	c.(637-639)Cgt>Tgt	p.R213C	SNX19_ENST00000528555.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.R213C	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	213	PXA. {ECO:0000255|PROSITE- ProRule:PRU00147, ECO:0000255|PROSITE- ProRule:PRU00553}.				protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		ACAACGCCACGCGTATAGGTG	0.577																																						ENST00000265909.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35						c.(637-639)Cgt>Tgt		sorting nexin 19							39.0	37.0	38.0					11																	130785198		2201	4297	6498	SO:0001583	missense	399979				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr11:130785198G>A	D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"""Sorting nexins"""	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.637C>T	11.37:g.130785198G>A	ENSP00000265909:p.Arg213Cys					SNX19_ENST00000530356.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000528555.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.R213C	p.R213C	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)	1	1206	-	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)	213			PXA.		E9PKB9|Q8IV55	Missense_Mutation	SNP	ENST00000265909.4	37	c.637C>T	CCDS31721.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.490406	0.26686	.	.	ENSG00000120451	ENST00000265909;ENST00000533214	T;T	0.34667	1.9;1.35	5.21	5.21	0.72293	Phox-associated domain (2);PX-associated, sorting nexin 13 (1);	0.000000	0.85682	D	0.000000	T	0.47192	0.1432	M	0.74881	2.28	0.80722	D	1	P;D	0.54601	0.913;0.967	B;P	0.48368	0.31;0.575	T	0.54609	-0.8268	10	0.87932	D	0	-13.0383	13.6767	0.62458	0.0:0.0:0.8454:0.1546	.	213;213	E9PKB9;Q92543	.;SNX19_HUMAN	C	213	ENSP00000265909:R213C;ENSP00000435390:R213C	ENSP00000265909:R213C	R	-	1	0	SNX19	130290408	0.994000	0.37717	0.193000	0.23327	0.321000	0.28281	2.385000	0.44371	2.411000	0.81874	0.555000	0.69702	CGT		0.577	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385649.1	NM_014758		12	25	0	0	0	1	0	12	25				
CRY1	1407	broad.mit.edu	37	12	107395719	107395719	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr12:107395719C>G	ENST00000008527.5	-	4	1285	c.418G>C	c.(418-420)Gaa>Caa	p.E140Q		NM_004075.4	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome circadian clock 1	140					blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|lipid storage (GO:0019915)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of glucocorticoid secretion (GO:2000850)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of DNA damage checkpoint (GO:2000001)|response to glucagon (GO:0033762)|response to insulin (GO:0032868)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|double-stranded DNA binding (GO:0003690)|nuclear hormone receptor binding (GO:0035257)|nucleotide binding (GO:0000166)|phosphatase binding (GO:0019902)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin binding (GO:0043130)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						CCATTGAGTTCTATGATCCTA	0.338																																						ENST00000008527.5																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						c.(418-420)Gaa>Caa		cryptochrome 1 (photolyase-like)							109.0	109.0	109.0					12																	107395719		2203	4300	6503	SO:0001583	missense	1407				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding	g.chr12:107395719C>G	BC030519	CCDS9112.1	12q23-q24.1	2014-01-17	2014-01-17		ENSG00000008405	ENSG00000008405			2384	protein-coding gene	gene with protein product		601933	"""cryptochrome 1 (photolyase-like)"""	PHLL1		8921389	Standard	NM_004075		Approved		uc001tmi.4	Q16526	OTTHUMG00000170005	ENST00000008527.5:c.418G>C	12.37:g.107395719C>G	ENSP00000008527:p.Glu140Gln						p.E140Q	NM_004075.3	NP_004066.1	Q16526	CRY1_HUMAN			4	1285	-			140			DNA photolyase.			Missense_Mutation	SNP	ENST00000008527.5	37	c.418G>C	CCDS9112.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.061803	0.76187	.	.	ENSG00000008405	ENST00000008527	.	.	.	5.3	5.3	0.74995	DNA photolyase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.70919	0.3279	M	0.64997	1.995	0.80722	D	1	B	0.32365	0.367	B	0.39771	0.309	T	0.69617	-0.5097	9	0.41790	T	0.15	-21.5388	19.3216	0.94243	0.0:1.0:0.0:0.0	.	140	Q16526	CRY1_HUMAN	Q	140	.	ENSP00000008527:E140Q	E	-	1	0	CRY1	105919849	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.684000	0.84104	2.626000	0.88956	0.650000	0.86243	GAA		0.338	CRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406827.1	NM_004075		35	80	0	0	0	1	0	35	80				
FBXL7	23194	broad.mit.edu	37	5	15928442	15928442	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr5:15928442G>A	ENST00000504595.1	+	3	1052	c.571G>A	c.(571-573)Gta>Ata	p.V191I	FBXL7_ENST00000510662.1_Missense_Mutation_p.V144I|FBXL7_ENST00000329673.7_Missense_Mutation_p.V179I	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	191					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GCTGGAAACCGTAACTGTCAG	0.627																																						ENST00000504595.1																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(571-573)Gta>Ata		F-box and leucine-rich repeat protein 7							32.0	38.0	36.0					5																	15928442		2110	4235	6345	SO:0001583	missense	23194				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:15928442G>A	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.571G>A	5.37:g.15928442G>A	ENSP00000423630:p.Val191Ile					FBXL7_ENST00000510662.1_Missense_Mutation_p.V144I|FBXL7_ENST00000329673.7_Missense_Mutation_p.V179I	p.V191I	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN			3	1052	+			191					B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	ENST00000504595.1	37	c.571G>A	CCDS54833.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.919821	0.52653	.	.	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.51574	0.7;0.7;0.7	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.37433	0.1003	L	0.43152	1.355	0.80722	D	1	P	0.40834	0.73	B	0.28305	0.088	T	0.23904	-1.0175	10	0.24483	T	0.36	.	19.0832	0.93190	0.0:0.0:1.0:0.0	.	191	Q9UJT9	FBXL7_HUMAN	I	191;144;179	ENSP00000423630:V191I;ENSP00000425184:V144I;ENSP00000329632:V179I	ENSP00000329632:V179I	V	+	1	0	FBXL7	15981442	1.000000	0.71417	0.267000	0.24556	0.919000	0.55068	5.613000	0.67688	2.520000	0.84964	0.561000	0.74099	GTA		0.627	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		5	33	0	0	0	1	0	5	33				
MYCBP2	23077	broad.mit.edu	37	13	77644815	77644815	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr13:77644815A>G	ENST00000544440.2	-	69	11758	c.11741T>C	c.(11740-11742)aTg>aCg	p.M3914T	MYCBP2_ENST00000407578.2_Missense_Mutation_p.M3952T|MYCBP2_ENST00000357337.6_Missense_Mutation_p.M3914T					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GATTCCAACCATATGTTCTTT	0.318																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(11854-11856)aTg>aCg		MYC binding protein 2, E3 ubiquitin protein ligase							229.0	212.0	218.0					13																	77644815		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77644815A>G	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.11741T>C	13.37:g.77644815A>G	ENSP00000444596:p.Met3914Thr					MYCBP2_ENST00000357337.6_Missense_Mutation_p.M3914T|MYCBP2_ENST00000544440.2_Missense_Mutation_p.M3914T	p.M3952T	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	69	12121	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	3914						Missense_Mutation	SNP	ENST00000544440.2	37	c.11855T>C		.	.	.	.	.	.	.	.	.	.	A	16.23	3.063907	0.55432	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.32753	1.44;1.44;1.44	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.48607	0.1509	M	0.68593	2.085	0.80722	D	1	P	0.40431	0.717	P	0.52189	0.692	T	0.49560	-0.8927	10	0.87932	D	0	.	15.1695	0.72858	1.0:0.0:0.0:0.0	.	3914	O75592	MYCB2_HUMAN	T	3914;3952;3914	ENSP00000349892:M3914T;ENSP00000384288:M3952T;ENSP00000444596:M3914T	ENSP00000349892:M3914T	M	-	2	0	MYCBP2	76542816	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.915000	0.92740	2.172000	0.68678	0.533000	0.62120	ATG		0.318	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		42	157	0	0	0	1	0	42	157				
BRIP1	83990	broad.mit.edu	37	17	59821817	59821817	+	Missense_Mutation	SNP	C	C	T	rs587780235		TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr17:59821817C>T	ENST00000259008.2	-	15	2500	c.2233G>A	c.(2233-2235)Gca>Aca	p.A745T	BRIP1_ENST00000577598.1_Missense_Mutation_p.A745T	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	745					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						TATTTGATTGCGTCATAGTAC	0.323			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																														ENST00000259008.2			yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	"""F, N, Mis"""	BRCA1 interacting protein C-terminal helicase 1			"""L, E"""		"""AML, leukemia, breast"""			0				NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						c.(2233-2235)Gca>Aca	Involved in tolerance or repair of DNA crosslinks	BRCA1 interacting protein C-terminal helicase 1							165.0	165.0	165.0					17																	59821817		2203	4300	6503	SO:0001583	missense	83990				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr17:59821817C>T	AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.2233G>A	17.37:g.59821817C>T	ENSP00000259008:p.Ala745Thr					BRIP1_ENST00000577598.1_Missense_Mutation_p.A745T	p.A745T	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN			15	2500	-			745					Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000259008.2	37	c.2233G>A	CCDS11631.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.703998	0.48412	.	.	ENSG00000136492	ENST00000259008	T	0.80480	-1.38	5.67	4.69	0.59074	Helicase, ATP-dependent, c2 type (1);	0.054916	0.64402	D	0.000001	D	0.86818	0.6024	L	0.56199	1.76	0.53688	D	0.999979	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.977	D	0.86300	0.1679	9	.	.	.	-10.6264	15.0353	0.71741	0.1433:0.8567:0.0:0.0	.	745;745	C9JGZ0;Q9BX63	.;FANCJ_HUMAN	T	745	ENSP00000259008:A745T	.	A	-	1	0	BRIP1	57176599	1.000000	0.71417	0.988000	0.46212	0.923000	0.55619	5.578000	0.67450	1.362000	0.46000	0.460000	0.39030	GCA		0.323	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043		53	150	0	0	0	1	0	53	150				
PLA2G4D	283748	broad.mit.edu	37	15	42364056	42364056	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr15:42364056C>T	ENST00000290472.3	-	15	1583	c.1489G>A	c.(1489-1491)Gtc>Atc	p.V497I		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	497	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		TCAGGAGGGACGAAGGCCCCG	0.602																																						ENST00000290472.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27						c.(1489-1491)Gtc>Atc		phospholipase A2, group IVD (cytosolic)							47.0	45.0	46.0					15																	42364056		2203	4299	6502	SO:0001583	missense	283748				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity	g.chr15:42364056C>T	AB090876	CCDS32203.1	15q14	2008-09-19				ENSG00000159337	3.1.1.4		30038	protein-coding gene	gene with protein product		612864				14709560	Standard	NM_178034		Approved	cPLA2delta	uc001zox.3	Q86XP0		ENST00000290472.3:c.1489G>A	15.37:g.42364056C>T	ENSP00000290472:p.Val497Ile						p.V497I	NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)	15	1583	-		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)	497			PLA2c.		Q8N176	Missense_Mutation	SNP	ENST00000290472.3	37	c.1489G>A	CCDS32203.1	.	.	.	.	.	.	.	.	.	.	C	2.061	-0.415396	0.04766	.	.	ENSG00000159337	ENST00000290472	T	0.11604	2.76	4.79	-3.4	0.04853	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.533396	0.16865	N	0.196370	T	0.03305	0.0096	N	0.03983	-0.305	0.27725	N	0.944998	B	0.18310	0.027	B	0.14578	0.011	T	0.42050	-0.9474	10	0.02654	T	1	-9.7343	12.6392	0.56700	0.0:0.3599:0.0:0.6401	.	497	Q86XP0	PA24D_HUMAN	I	497	ENSP00000290472:V497I	ENSP00000290472:V497I	V	-	1	0	PLA2G4D	40151348	0.975000	0.34042	0.001000	0.08648	0.790000	0.44656	0.242000	0.18087	-0.584000	0.05913	-0.367000	0.07326	GTC		0.602	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419317.1	NM_178034		20	34	0	0	0	1	0	20	34				
FBXO44	93611	broad.mit.edu	37	1	11716049	11716049	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr1:11716049C>T	ENST00000251547.5	+	2	239	c.157C>T	c.(157-159)Cga>Tga	p.R53*	FBXO2_ENST00000475961.1_5'Flank|FBXO2_ENST00000354287.4_5'Flank|FBXO44_ENST00000376770.1_Nonsense_Mutation_p.R53*|FBXO44_ENST00000376768.1_Nonsense_Mutation_p.R53*|FBXO44_ENST00000376760.1_Nonsense_Mutation_p.R53*|FBXO44_ENST00000376762.4_Nonsense_Mutation_p.R53*|FBXO44_ENST00000251546.4_Nonsense_Mutation_p.R53*	NM_033182.5	NP_149438.2	Q9H4M3	FBX44_HUMAN	F-box protein 44	53						SCF ubiquitin ligase complex (GO:0019005)				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		CAAGTGCCTGCGAGAGGGCTT	0.637																																						ENST00000376770.1																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8						c.(157-159)Cga>Tga		F-box protein 44							85.0	88.0	87.0					1																	11716049		2203	4300	6503	SO:0001587	stop_gained	93611				protein catabolic process	SCF ubiquitin ligase complex	protein binding	g.chr1:11716049C>T	AY040878	CCDS131.1, CCDS132.1	1p36.21	2008-03-26			ENSG00000132879	ENSG00000132879		"""F-boxes /  ""other"""""	24847	protein-coding gene	gene with protein product		609111				12383498	Standard	XM_005263535		Approved	FBX30, FBG3, MGC14140, Fbxo6a, Fbx44	uc001asm.3	Q9H4M3	OTTHUMG00000002071	ENST00000251547.5:c.157C>T	1.37:g.11716049C>T	ENSP00000251547:p.Arg53*					FBXO44_ENST00000376760.1_Nonsense_Mutation_p.R53*|FBXO44_ENST00000376762.4_Nonsense_Mutation_p.R53*|FBXO44_ENST00000251547.5_Nonsense_Mutation_p.R53*|FBXO44_ENST00000376768.1_Nonsense_Mutation_p.R53*|FBXO44_ENST00000251546.4_Nonsense_Mutation_p.R53*	p.R53*	NM_001014765.1	NP_001014765.1	Q9H4M3	FBX44_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)	3	655	+	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	53					B3KNZ2|B7Z743|Q5TGX2|Q5TGX4|Q5TGX5|Q68DJ9|Q8WWY2	Nonsense_Mutation	SNP	ENST00000251547.5	37	c.157C>T	CCDS132.1	.	.	.	.	.	.	.	.	.	.	C	37	6.577191	0.97676	.	.	ENSG00000132879	ENST00000251546;ENST00000425796;ENST00000376770;ENST00000376768;ENST00000251547;ENST00000376762;ENST00000376760	.	.	.	5.45	5.45	0.79879	.	0.111045	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-38.7364	18.2499	0.89998	0.0:1.0:0.0:0.0	.	.	.	.	X	53	.	ENSP00000251546:R53X	R	+	1	2	FBXO44	11638636	1.000000	0.71417	0.524000	0.27887	0.704000	0.40688	6.224000	0.72265	2.555000	0.86185	0.407000	0.27541	CGA		0.637	FBXO44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005761.1	NM_183412		27	96	0	0	0	1	0	27	96				
ITIH5	80760	broad.mit.edu	37	10	7684004	7684004	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr10:7684004G>C	ENST00000256861.6	-	3	263	c.185C>G	c.(184-186)tCc>tGc	p.S62C	ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000434980.1_5'Flank|ITIH5_ENST00000397145.2_Missense_Mutation_p.S62C|ITIH5_ENST00000397146.2_Missense_Mutation_p.S62C	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	62	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GGCATAACGGGAAATGATGGT	0.433																																						ENST00000256861.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						c.(184-186)tCc>tGc		inter-alpha-trypsin inhibitor heavy chain family, member 5							140.0	129.0	133.0					10																	7684004		2203	4300	6503	SO:0001583	missense	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7684004G>C			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.185C>G	10.37:g.7684004G>C	ENSP00000256861:p.Ser62Cys					ITIH5_ENST00000397145.2_Missense_Mutation_p.S62C|ITIH5_ENST00000397146.2_Missense_Mutation_p.S62C|ITIH5_ENST00000446830.2_5'UTR	p.S62C	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN			3	263	-			62			VIT.		Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37	c.185C>G		.	.	.	.	.	.	.	.	.	.	G	21.0	4.083463	0.76642	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000397145	T;T;T	0.28255	1.62;1.62;1.62	5.71	5.71	0.89125	Vault protein inter-alpha-trypsin (2);	0.207024	0.52532	D	0.000078	T	0.60431	0.2268	.	.	.	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.63005	-0.6733	9	0.87932	D	0	-26.8443	19.8445	0.96703	0.0:0.0:1.0:0.0	.	62;62	G5E9D8;Q86UX2	.;ITIH5_HUMAN	C	62	ENSP00000256861:S62C;ENSP00000380333:S62C;ENSP00000380332:S62C	ENSP00000256861:S62C	S	-	2	0	ITIH5	7724010	1.000000	0.71417	0.952000	0.39060	0.591000	0.36615	9.338000	0.96553	2.695000	0.91970	0.462000	0.41574	TCC		0.433	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		24	65	0	0	0	1	0	24	65				
TP53BP1	7158	broad.mit.edu	37	15	43748855	43748855	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr15:43748855C>A	ENST00000263801.3	-	12	2188	c.1936G>T	c.(1936-1938)Gaa>Taa	p.E646*	TP53BP1_ENST00000450115.2_Nonsense_Mutation_p.E651*|TP53BP1_ENST00000382039.3_Nonsense_Mutation_p.E651*|TP53BP1_ENST00000382044.4_Nonsense_Mutation_p.E651*|TP53BP1_ENST00000605155.1_5'Flank	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	646					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TCCATAGCTTCCTCCTGATCT	0.473								Other conserved DNA damage response genes																														ENST00000263801.3																			0				breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72						c.(1936-1938)Gaa>Taa	Other conserved DNA damage response genes	tumor protein p53 binding protein 1							109.0	110.0	109.0					15																	43748855		2201	4298	6499	SO:0001587	stop_gained	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43748855C>A	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.1936G>T	15.37:g.43748855C>A	ENSP00000263801:p.Glu646*					TP53BP1_ENST00000382039.3_Nonsense_Mutation_p.E651*|TP53BP1_ENST00000450115.2_Nonsense_Mutation_p.E651*|TP53BP1_ENST00000382044.4_Nonsense_Mutation_p.E651*	p.E646*	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	12	2188	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	646					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Nonsense_Mutation	SNP	ENST00000263801.3	37	c.1936G>T	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	C	40	8.359944	0.98777	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546	.	.	.	5.04	5.04	0.67666	.	0.153973	0.42821	D	0.000649	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-13.2176	8.1935	0.31383	0.0:0.828:0.0:0.172	.	.	.	.	X	646;651;651;651;651	.	ENSP00000263801:E646X	E	-	1	0	TP53BP1	41536147	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.291000	0.51764	2.486000	0.83907	0.563000	0.77884	GAA		0.473	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			40	102	1	0	1.58521e-26	1	1.72664e-26	40	102				
UNC13C	440279	broad.mit.edu	37	15	54542488	54542488	+	Silent	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr15:54542488C>T	ENST00000260323.11	+	7	3294	c.3294C>T	c.(3292-3294)caC>caT	p.H1098H	UNC13C_ENST00000537900.1_Silent_p.H1096H|UNC13C_ENST00000545554.1_Silent_p.H1098H	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1098					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CCATCCCACACAATTTTGAGG	0.502																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(3292-3294)caC>caT		unc-13 homolog C (C. elegans)							118.0	110.0	113.0					15																	54542488		2092	4253	6345	SO:0001819	synonymous_variant	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54542488C>T	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.3294C>T	15.37:g.54542488C>T						UNC13C_ENST00000260323.11_Silent_p.H1098H|UNC13C_ENST00000537900.1_Silent_p.H1096H	p.H1098H			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	7	3294	+			1098					Q0P613|Q8ND48|Q96NP3	Silent	SNP	ENST00000260323.11	37	c.3294C>T	CCDS45264.1																																																																																				0.502	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		20	50	0	0	0	1	0	20	50				
SUPT6H	6830	broad.mit.edu	37	17	27005865	27005865	+	Silent	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr17:27005865G>A	ENST00000314616.6	+	11	1516	c.1233G>A	c.(1231-1233)gaG>gaA	p.E411E	SUPT6H_ENST00000347486.4_Silent_p.E411E	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	411	Interaction with IWS1. {ECO:0000250}.|Interaction with KDM6A. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TCCGTAAAGAGAACCTAACAC	0.522																																						ENST00000314616.6																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(1231-1233)gaG>gaA		suppressor of Ty 6 homolog (S. cerevisiae)							122.0	119.0	120.0					17																	27005865		2203	4300	6503	SO:0001819	synonymous_variant	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27005865G>A	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.1233G>A	17.37:g.27005865G>A						SUPT6H_ENST00000347486.4_Silent_p.E411E	p.E411E	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN			11	1516	+	Lung NSC(42;0.00431)		411					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Silent	SNP	ENST00000314616.6	37	c.1233G>A	CCDS32596.1																																																																																				0.522	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		21	73	0	0	0	1	0	21	73				
PKHD1L1	93035	broad.mit.edu	37	8	110413785	110413785	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr8:110413785A>C	ENST00000378402.5	+	14	1445	c.1341A>C	c.(1339-1341)agA>agC	p.R447S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	447					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAACACAAAGATCAGATGATA	0.333										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(1339-1341)agA>agC		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							80.0	74.0	76.0					8																	110413785		1826	4082	5908	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110413785A>C	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.1341A>C	8.37:g.110413785A>C	ENSP00000367655:p.Arg447Ser	HNSCC(38;0.096)					p.R447S	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		14	1445	+			447					Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.1341A>C	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	A	14.72	2.618599	0.46736	.	.	ENSG00000205038	ENST00000378402	T	0.21191	2.02	5.54	3.01	0.34805	PA14 (1);	0.335919	0.31358	N	0.007796	T	0.13841	0.0335	L	0.40543	1.245	0.33640	D	0.607166	P	0.35872	0.525	B	0.34590	0.186	T	0.21143	-1.0254	10	0.54805	T	0.06	.	2.134	0.03757	0.585:0.1684:0.0854:0.1612	.	447	Q86WI1	PKHL1_HUMAN	S	447	ENSP00000367655:R447S	ENSP00000367655:R447S	R	+	3	2	PKHD1L1	110482961	0.620000	0.27068	1.000000	0.80357	0.701000	0.40568	0.105000	0.15333	0.329000	0.23460	0.477000	0.44152	AGA		0.333	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		9	35	0	0	0	1	0	9	35				
REV3L	5980	broad.mit.edu	37	6	111688459	111688459	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr6:111688459C>G	ENST00000358835.3	-	15	6986	c.6532G>C	c.(6532-6534)Gag>Cag	p.E2178Q	REV3L_ENST00000435970.1_Missense_Mutation_p.E2100Q|REV3L_ENST00000368805.1_Missense_Mutation_p.E2178Q|REV3L_ENST00000368802.3_Missense_Mutation_p.E2178Q			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2178					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)		ACTAGAGGCTCTTGAGGCTCA	0.413								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.(6298-6300)Gag>Cag	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							86.0	85.0	86.0					6																	111688459		2203	4300	6503	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.chr6:111688459C>G	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.6532G>C	6.37:g.111688459C>G	ENSP00000351697:p.Glu2178Gln					REV3L_ENST00000368802.3_Missense_Mutation_p.E2178Q|REV3L_ENST00000358835.3_Missense_Mutation_p.E2178Q|REV3L_ENST00000368805.1_Missense_Mutation_p.E2178Q	p.E2100Q			O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	16	7114	-		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)	2178					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.6298G>C	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	C	12.15	1.850363	0.32699	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970;ENST00000543871	T;T;T;T	0.01516	4.9;4.9;4.9;4.81	5.52	4.66	0.58398	Ribonuclease H-like (1);	0.557169	0.17921	N	0.157514	T	0.00608	0.0020	L	0.27053	0.805	0.09310	N	1	B	0.23735	0.09	B	0.21360	0.034	T	0.48969	-0.8987	10	0.34782	T	0.22	-4.3905	9.4828	0.38911	0.0:0.7965:0.0:0.2035	.	2178	O60673	DPOLZ_HUMAN	Q	2178;2178;2178;2100;251	ENSP00000357792:E2178Q;ENSP00000357795:E2178Q;ENSP00000351697:E2178Q;ENSP00000402003:E2100Q	ENSP00000351697:E2178Q	E	-	1	0	REV3L	111795152	0.318000	0.24598	0.040000	0.18447	0.547000	0.35210	1.443000	0.35057	1.464000	0.47987	-0.140000	0.14226	GAG		0.413	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		24	79	0	0	0	1	0	24	79				
MAP1A	4130	broad.mit.edu	37	15	43813678	43813678	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr15:43813678G>A	ENST00000300231.5	+	4	457	c.7G>A	c.(7-9)Ggc>Agc	p.G3S	MAP1A_ENST00000382031.1_Missense_Mutation_p.G241S|MAP1A_ENST00000399453.1_Missense_Mutation_p.G3S			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	3					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CACCATGGACGGCGTGGCTGA	0.592																																						ENST00000382031.1																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(721-723)Ggc>Agc		microtubule-associated protein 1A	Estramustine(DB01196)						74.0	78.0	76.0					15																	43813678		2056	4195	6251	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43813678G>A	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.7G>A	15.37:g.43813678G>A	ENSP00000300231:p.Gly3Ser					MAP1A_ENST00000300231.5_Missense_Mutation_p.G3S|MAP1A_ENST00000399453.1_Missense_Mutation_p.G3S	p.G241S			P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	5	752	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	3					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.721G>A	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.013790	0.54468	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231;ENST00000442025	T;T;T	0.33654	1.4;1.4;1.4	5.22	5.22	0.72569	.	0.000000	0.34652	N	0.003795	T	0.62768	0.2455	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65463	-0.6162	10	0.72032	D	0.01	-12.7323	18.9574	0.92664	0.0:0.0:1.0:0.0	.	3	P78559	MAP1A_HUMAN	S	241;3;3;3	ENSP00000371462:G241S;ENSP00000382380:G3S;ENSP00000300231:G3S	ENSP00000300231:G3S	G	+	1	0	MAP1A	41600970	1.000000	0.71417	0.996000	0.52242	0.702000	0.40608	9.657000	0.98554	2.720000	0.93068	0.561000	0.74099	GGC		0.592	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		26	58	0	0	0	1	0	26	58				
ASUN	55726	broad.mit.edu	37	12	27064147	27064147	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr12:27064147C>T	ENST00000261191.7	-	15	2445	c.1909G>A	c.(1909-1911)Gaa>Aaa	p.E637K	ASUN_ENST00000539625.1_Missense_Mutation_p.E536K	NM_018164.2	NP_060634.2	Q9NVM9	ASUN_HUMAN	asunder spermatogenesis regulator	637					centrosome localization (GO:0051642)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|protein localization to nuclear envelope (GO:0090435)|regulation of fertilization (GO:0080154)|regulation of mitotic cell cycle (GO:0007346)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											TCATCCATTTCAACAAGGGGT	0.413																																						ENST00000261191.7																			0											c.(1909-1911)Gaa>Aaa		asunder spermatogenesis regulator							149.0	151.0	150.0					12																	27064147		2203	4300	6503	SO:0001583	missense	55726				cell division|mitosis|regulation of mitotic cell cycle		protein binding	g.chr12:27064147C>T	AK001222	CCDS8708.1	12p12.3	2013-05-08	2013-05-08	2011-12-09	ENSG00000064102	ENSG00000064102			20174	protein-coding gene	gene with protein product	"""spermatogenesis associated 30"""	615079	"""chromosome 12 open reading frame 11"", ""asunder, spermatogenesis regulator homolog (Drosphila)"""	C12orf11		12414650, 19357193, 23097494	Standard	NM_018164		Approved	FLJ10637, NET48, Mat89Bb, SPATA30	uc001rhk.4	Q9NVM9	OTTHUMG00000169193	ENST00000261191.7:c.1909G>A	12.37:g.27064147C>T	ENSP00000261191:p.Glu637Lys					ASUN_ENST00000539625.1_Missense_Mutation_p.E536K	p.E637K	NM_018164.2	NP_060634.2	Q9NVM9	M89BB_HUMAN			15	2445	-			637					B4DNK1|Q86WE2|Q96HM2|Q9BTX2|Q9NTB6|Q9NVM5	Missense_Mutation	SNP	ENST00000261191.7	37	c.1909G>A	CCDS8708.1	.	.	.	.	.	.	.	.	.	.	C	7.523	0.657045	0.14580	.	.	ENSG00000064102	ENST00000538155;ENST00000261191;ENST00000539625;ENST00000335745	T;T;T	0.41400	1.0;1.0;1.0	5.29	4.4	0.53042	.	0.539771	0.19964	N	0.102144	T	0.19725	0.0474	N	0.08118	0	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.15870	0.01;0.014	T	0.18745	-1.0327	10	0.15499	T	0.54	-10.663	6.898	0.24267	0.0:0.6995:0.0:0.3005	.	637;536	Q9NVM9;B4DNK1	M89BB_HUMAN;.	K	284;637;536;224	ENSP00000445645:E284K;ENSP00000261191:E637K;ENSP00000443724:E536K	ENSP00000261191:E637K	E	-	1	0	C12orf11	26955414	0.996000	0.38824	0.864000	0.33941	0.993000	0.82548	1.998000	0.40796	1.365000	0.46057	0.561000	0.74099	GAA		0.413	ASUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402819.1	NM_018164		35	91	0	0	0	1	0	35	91				
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr17:39183145A>G	ENST00000361883.5	-	1	309	c.263T>C	c.(262-264)aTc>aCc	p.I88T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament (GO:0045095)		p.I88T(11)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGAGCTGATCTGGCAGCA	0.632																																						ENST00000361883.5																			11	Substitution - Missense(11)	p.I88T(11)	lung(7)|kidney(1)|prostate(1)|endometrium(1)|central_nervous_system(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17						c.(262-264)aTc>aCc		keratin associated protein 1-5							26.0	30.0	28.0					17																	39183145		2054	4217	6271	SO:0001583	missense	83895					keratin filament		g.chr17:39183145A>G	AJ406928	CCDS42321.1	17q21.2	2013-06-25			ENSG00000221852	ENSG00000221852		"""Keratin associated proteins"""	16777	protein-coding gene	gene with protein product		608822				11279113	Standard	NM_031957		Approved	KAP1.5	uc002hvu.3	Q9BYS1	OTTHUMG00000133587	ENST00000361883.5:c.263T>C	17.37:g.39183145A>G	ENSP00000355302:p.Ile88Thr						p.I88T	NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	309	-		Breast(137;0.00043)	88			15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].		A6NJW6|A6NLZ6|B6ZDR1|Q52LP6	Missense_Mutation	SNP	ENST00000361883.5	37	c.263T>C	CCDS42321.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.877501	0.00061	.	.	ENSG00000221852	ENST00000361883;ENST00000543389	T	0.25579	1.79	2.87	0.645	0.17782	.	.	.	.	.	T	0.03178	0.0093	N	0.00055	-2.375	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38650	-0.9651	9	0.05721	T	0.95	.	2.2484	0.04037	0.117:0.3609:0.3383:0.1838	.	88	Q9BYS1	KRA15_HUMAN	T	88;78	ENSP00000355302:I88T	ENSP00000355302:I88T	I	-	2	0	KRTAP1-5	36436671	0.730000	0.28100	0.005000	0.12908	0.023000	0.10783	0.636000	0.24644	-0.052000	0.13311	-0.215000	0.12644	ATC		0.632	KRTAP1-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257691.1			6	46	0	0	0	1	0	6	46				
TIMD4	91937	broad.mit.edu	37	5	156381429	156381429	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr5:156381429T>C	ENST00000274532.2	-	2	453	c.397A>G	c.(397-399)Aga>Gga	p.R133G	TIMD4_ENST00000407087.3_Missense_Mutation_p.R133G	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	133						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGCTTACCTCTCTGTAGATTC	0.502																																						ENST00000274532.2																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37						c.(397-399)Aga>Gga		T-cell immunoglobulin and mucin domain containing 4							60.0	55.0	57.0					5																	156381429		2203	4300	6503	SO:0001583	missense	91937					integral to membrane		g.chr5:156381429T>C	BC008988	CCDS4332.1, CCDS54943.1	5q33.3	2013-01-11			ENSG00000145850	ENSG00000145850		"""Immunoglobulin superfamily / V-set domain containing"""	25132	protein-coding gene	gene with protein product		610096				12477932	Standard	NM_001146726		Approved		uc003lwh.2	Q96H15	OTTHUMG00000130244	ENST00000274532.2:c.397A>G	5.37:g.156381429T>C	ENSP00000274532:p.Arg133Gly					TIMD4_ENST00000407087.3_Missense_Mutation_p.R133G	p.R133G	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	453	-	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	133					B5MCL9	Missense_Mutation	SNP	ENST00000274532.2	37	c.397A>G	CCDS4332.1	.	.	.	.	.	.	.	.	.	.	t	16.48	3.134232	0.56828	.	.	ENSG00000145850	ENST00000274532;ENST00000407087	T;T	0.18960	2.18;2.19	5.54	1.41	0.22369	.	0.464306	0.20316	N	0.094737	T	0.16727	0.0402	M	0.63428	1.95	0.09310	N	1	P;P	0.48503	0.911;0.911	B;B	0.41412	0.356;0.356	T	0.17410	-1.0370	10	0.38643	T	0.18	.	0.8754	0.01223	0.1708:0.2318:0.1327:0.4647	.	133;133	B5MCL9;Q96H15	.;TIMD4_HUMAN	G	133	ENSP00000274532:R133G;ENSP00000385973:R133G	ENSP00000274532:R133G	R	-	1	2	TIMD4	156314007	0.410000	0.25376	0.002000	0.10522	0.019000	0.09904	1.082000	0.30803	-0.026000	0.13895	0.533000	0.62120	AGA		0.502	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252568.1	NM_138379		23	34	0	0	0	1	0	23	34				
ZNF536	9745	broad.mit.edu	37	19	30934871	30934871	+	Silent	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr19:30934871C>T	ENST00000355537.3	+	2	549	c.402C>T	c.(400-402)ctC>ctT	p.L134L		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	134					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.L134L(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CGTGCCCACTCTGCGGCAAGC	0.627																																						ENST00000355537.3																			1	Substitution - coding silent(1)	p.L134L(1)	lung(1)	NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(400-402)ctC>ctT		zinc finger protein 536							67.0	55.0	59.0					19																	30934871		2203	4300	6503	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30934871C>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.402C>T	19.37:g.30934871C>T							p.L134L	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			2	549	+	Esophageal squamous(110;0.0834)		134					A2RU18	Silent	SNP	ENST00000355537.3	37	c.402C>T	CCDS32984.1																																																																																				0.627	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		13	41	0	0	0	1	0	13	41				
ITIH6	347365	broad.mit.edu	37	X	54780193	54780193	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chrX:54780193G>T	ENST00000218436.6	-	11	3272	c.3243C>A	c.(3241-3243)gaC>gaA	p.D1081E		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	1081					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.D1081D(1)									GGGGGTCCCCGTCCACTGCAA	0.493																																						ENST00000218436.6																			1	Substitution - coding silent(1)	p.D1081D(1)	breast(1)								c.(3241-3243)gaC>gaA		inter-alpha-trypsin inhibitor heavy chain family, member 6							68.0	59.0	62.0					X																	54780193		2203	4300	6503	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54780193G>T	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.3243C>A	X.37:g.54780193G>T	ENSP00000218436:p.Asp1081Glu						p.D1081E	NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN			11	3272	-			1081					A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.3243C>A	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.475011	0.43942	.	.	ENSG00000102313	ENST00000218436	T	0.06768	3.26	3.25	0.63	0.17693	.	22.344400	0.00465	U	0.000110	T	0.13457	0.0326	N	0.21282	0.65	0.23056	N	0.998364	D	0.67145	0.996	P	0.56278	0.795	T	0.21999	-1.0229	10	0.52906	T	0.07	.	7.31	0.26469	0.4846:0.0:0.5154:0.0	.	1081	Q6UXX5	ITH5L_HUMAN	E	1081	ENSP00000218436:D1081E	ENSP00000218436:D1081E	D	-	3	2	ITIH5L	54796918	0.989000	0.36119	0.976000	0.42696	0.903000	0.53119	0.188000	0.17018	0.099000	0.17552	-0.453000	0.05500	GAC		0.493	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		13	45	1	0	0.0135373	1	0.0135837	13	45				
NOTCH1	4851	broad.mit.edu	37	9	139410015	139410015	+	Missense_Mutation	SNP	G	G	C	rs558914849		TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr9:139410015G>C	ENST00000277541.6	-	11	1898	c.1823C>G	c.(1822-1824)tCc>tGc	p.S608C		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	608	EGF-like 16; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGGCTGGCTGGAGCACTCGTT	0.692			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			G|||	1	0.000199681	0.0	0.0	5008	,	,		11908	0.0		0.0	False		,,,				2504	0.001					ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(1822-1824)tCc>tGc		notch 1							27.0	41.0	36.0					9																	139410015		2177	4282	6459	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139410015G>C	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1823C>G	9.37:g.139410015G>C	ENSP00000277541:p.Ser608Cys	HNSCC(8;0.001)					p.S608C	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	11	1898	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	608			EGF-like 16; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.1823C>G	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.822482	0.50739	.	.	ENSG00000148400	ENST00000277541	D	0.91124	-2.79	5.24	2.83	0.33086	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.421965	0.24100	N	0.041550	D	0.93112	0.7807	M	0.88181	2.935	0.23533	N	0.997479	P	0.37176	0.586	P	0.49637	0.617	D	0.85631	0.1270	10	0.37606	T	0.19	.	6.9198	0.24380	0.1384:0.0:0.3112:0.5504	.	608	P46531	NOTC1_HUMAN	C	608	ENSP00000277541:S608C	ENSP00000277541:S608C	S	-	2	0	NOTCH1	138529836	1.000000	0.71417	0.986000	0.45419	0.906000	0.53458	2.745000	0.47459	0.286000	0.22352	-0.474000	0.04947	TCC		0.692	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		8	26	0	0	0	1	0	8	26				
GPR161	23432	broad.mit.edu	37	1	168054805	168054805	+	Silent	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr1:168054805G>A	ENST00000367838.1	-	8	1867	c.1554C>T	c.(1552-1554)atC>atT	p.I518I	GPR161_ENST00000539777.1_Silent_p.I440I|GPR161_ENST00000537209.1_Silent_p.I538I|GPR161_ENST00000361697.2_Silent_p.I518I|GPR161_ENST00000367836.1_Silent_p.I386I|GPR161_ENST00000271357.5_Silent_p.I518I|GPR161_ENST00000546300.1_Silent_p.I404I|GPR161_ENST00000367835.1_Silent_p.I518I	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	518					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					CTCCTTCTTCGATGCTCTGCA	0.652																																						ENST00000367838.1																			0				breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26						c.(1552-1554)atC>atT		G protein-coupled receptor 161							54.0	63.0	60.0					1																	168054805		2203	4300	6503	SO:0001819	synonymous_variant	23432				multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:168054805G>A	AF091890	CCDS1268.1, CCDS58042.1, CCDS58043.1, CCDS58044.1, CCDS58045.1, CCDS72978.1	1q23.3	2012-08-21			ENSG00000143147	ENSG00000143147		"""GPCR / Class A : Orphans"""	23694	protein-coding gene	gene with protein product		612250				11959142	Standard	NM_153832		Approved	RE2	uc009wvo.4	Q8N6U8	OTTHUMG00000034651	ENST00000367838.1:c.1554C>T	1.37:g.168054805G>A						GPR161_ENST00000546300.1_Silent_p.I404I|GPR161_ENST00000537209.1_Silent_p.I538I|GPR161_ENST00000271357.5_Silent_p.I518I|GPR161_ENST00000361697.2_Silent_p.I518I|GPR161_ENST00000367836.1_Silent_p.I386I|GPR161_ENST00000367835.1_Silent_p.I518I|GPR161_ENST00000539777.1_Silent_p.I440I	p.I518I	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN			8	1867	-	all_hematologic(923;0.215)		518					B3KV34|B7Z5D7|B7Z5E8|B7Z5Z6|F5GXD6|F5H6J7|O75963|Q5TGK0|Q5TGK1|Q5TGK2	Silent	SNP	ENST00000367838.1	37	c.1554C>T	CCDS1268.1																																																																																				0.652	GPR161-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083829.1	NM_007369		24	87	0	0	0	1	0	24	87				
PCNXL3	399909	broad.mit.edu	37	11	65393140	65393140	+	Silent	SNP	C	C	T	rs375443128		TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr11:65393140C>T	ENST00000355703.3	+	19	3692	c.3153C>T	c.(3151-3153)tcC>tcT	p.S1051S		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1051						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						TCTTGCACTCCGACCTGGTGA	0.627																																						ENST00000355703.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						c.(3151-3153)tcC>tcT		pecanex-like 3 (Drosophila)		C		0,4394		0,0,2197	74.0	68.0	70.0		3153	-10.7	0.3	11		70	2,8552		0,2,4275	no	coding-synonymous	PCNXL3	NM_032223.2		0,2,6472	TT,TC,CC		0.0234,0.0,0.0154		1051/2035	65393140	2,12946	2197	4277	6474	SO:0001819	synonymous_variant	399909					integral to membrane		g.chr11:65393140C>T	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.3153C>T	11.37:g.65393140C>T							p.S1051S	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN			19	3692	+			1051					Q6MZN8	Silent	SNP	ENST00000355703.3	37	c.3153C>T	CCDS44650.1																																																																																				0.627	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		3	20	0	0	0	1	0	3	20				
KCNJ8	3764	broad.mit.edu	37	12	21919122	21919122	+	Silent	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr12:21919122C>T	ENST00000240662.2	-	3	1155	c.810G>A	c.(808-810)gtG>gtA	p.V270V	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	KCNJ8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	270					defense response to virus (GO:0051607)|heart development (GO:0007507)|kidney development (GO:0001822)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to pH (GO:0009268)|synaptic transmission (GO:0007268)|vasodilation (GO:0042311)	ATP-sensitive potassium channel complex (GO:0008282)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Gliquidone(DB01251)|Glisoxepide(DB01289)|Glyburide(DB01016)|Levosimendan(DB00922)|Phenformin(DB00914)|Thiamylal(DB01154)|Yohimbine(DB01392)	GCTTGTCAATCACGTGGCAGA	0.478																																						ENST00000240662.2																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						c.(808-810)gtG>gtA		potassium inwardly-rectifying channel, subfamily J, member 8	Levosimendan(DB00922)						79.0	70.0	73.0					12																	21919122		2203	4300	6503	SO:0001819	synonymous_variant	3764					voltage-gated potassium channel complex		g.chr12:21919122C>T	BC000544	CCDS8692.1	12p12.1	2011-07-05			ENSG00000121361	ENSG00000121361		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6269	protein-coding gene	gene with protein product		600935				8595887, 16382105	Standard	NM_004982		Approved	Kir6.1	uc001rff.4	Q15842	OTTHUMG00000169093	ENST00000240662.2:c.810G>A	12.37:g.21919122C>T						RP11-59N23.1_ENST00000542489.1_RNA	p.V270V	NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN			3	1155	-			270					O00657	Silent	SNP	ENST00000240662.2	37	c.810G>A	CCDS8692.1																																																																																				0.478	KCNJ8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402226.1	NM_004982		11	37	0	0	0	1	0	11	37				
ADH1B	125	broad.mit.edu	37	4	100237446	100237446	+	Silent	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr4:100237446G>A	ENST00000305046.8	-	4	340	c.273C>T	c.(271-273)atC>atT	p.I91I	ADH1B_ENST00000394887.3_Silent_p.I51I|ADH1B_ENST00000504498.1_5'Flank			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	91					ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	TAAAGAGCGGGATGACTTTAT	0.373																																						ENST00000305046.8																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33						c.(271-273)atC>atT		alcohol dehydrogenase 1B (class I), beta polypeptide	Fomepizole(DB01213)|NADH(DB00157)						96.0	93.0	94.0					4																	100237446		2203	4300	6503	SO:0001819	synonymous_variant	125				ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	g.chr4:100237446G>A	AF153821	CCDS34033.1, CCDS68761.1	4q23	2008-02-05	2007-11-06		ENSG00000196616	ENSG00000196616	1.1.1.1	"""Alcohol dehydrogenases"""	250	protein-coding gene	gene with protein product		103720		ADH2		3006456	Standard	NM_000668		Approved		uc003hus.4	P00325	OTTHUMG00000161413	ENST00000305046.8:c.273C>T	4.37:g.100237446G>A						ADH1B_ENST00000394887.3_Silent_p.I51I	p.I91I			P00325	ADH1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	4	340	-			91					A8MYN5|B4DRS9|B4DVC3|Q13711|Q4ZGI9|Q96KI7	Silent	SNP	ENST00000305046.8	37	c.273C>T	CCDS34033.1																																																																																				0.373	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364853.1	NM_000668		17	47	0	0	0	1	0	17	47				
ATP10B	23120	broad.mit.edu	37	5	160114916	160114916	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr5:160114916G>A	ENST00000327245.5	-	5	1012	c.166C>T	c.(166-168)Cat>Tat	p.H56Y	ATP10B_ENST00000518411.1_5'UTR|CTC-529G1.1_ENST00000524198.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	56					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAATCTTGATGGAATATGCTG	0.522																																						ENST00000327245.5																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75						c.(166-168)Cat>Tat		ATPase, class V, type 10B							223.0	228.0	226.0					5																	160114916		2012	4164	6176	SO:0001583	missense	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160114916G>A	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.166C>T	5.37:g.160114916G>A	ENSP00000313600:p.His56Tyr					ATP10B_ENST00000518411.1_5'UTR|CTC-529G1.1_ENST00000524198.1_RNA	p.H56Y	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		5	1012	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	56					Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	c.166C>T	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	G	9.635	1.137393	0.21123	.	.	ENSG00000118322	ENST00000327245	T	0.53857	0.6	5.05	4.18	0.49190	.	0.321313	0.30658	N	0.009160	T	0.46814	0.1412	M	0.63428	1.95	0.09310	N	1	B;B;B	0.24963	0.079;0.115;0.001	B;B;B	0.29077	0.065;0.098;0.001	T	0.38457	-0.9660	9	.	.	.	.	6.6625	0.23022	0.1627:0.1476:0.6898:0.0	.	100;56;56	B4DHG1;O94823-2;O94823	.;.;AT10B_HUMAN	Y	56	ENSP00000313600:H56Y	.	H	-	1	0	ATP10B	160047494	1.000000	0.71417	0.654000	0.29608	0.381000	0.30169	3.045000	0.49838	1.131000	0.42111	0.467000	0.42956	CAT		0.522	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		112	65	0	0	0	1	0	112	65				
ATR	545	broad.mit.edu	37	3	142281947	142281947	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr3:142281947G>C	ENST00000350721.4	-	4	418	c.297C>G	c.(295-297)ttC>ttG	p.F99L	ATR_ENST00000383101.3_Missense_Mutation_p.F99L	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	99					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TCCAATTACTGAATTCTTTGA	0.313								Other conserved DNA damage response genes																														ENST00000350721.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(295-297)ttC>ttG	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							69.0	76.0	74.0					3																	142281947		2057	4230	6287	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142281947G>C	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.297C>G	3.37:g.142281947G>C	ENSP00000343741:p.Phe99Leu					ATR_ENST00000383101.3_Missense_Mutation_p.F99L	p.F99L	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN			4	418	-			99					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.297C>G	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	G	13.46	2.244371	0.39697	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.37752	1.18;1.18	5.62	2.88	0.33553	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.50922	0.1644	M	0.67953	2.075	0.30654	N	0.755073	D	0.69078	0.997	D	0.70716	0.97	T	0.51068	-0.8752	10	0.36615	T	0.2	-14.5196	8.0803	0.30741	0.3793:0.0:0.6207:0.0	.	99	Q13535	ATR_HUMAN	L	99	ENSP00000343741:F99L;ENSP00000372581:F99L	ENSP00000343741:F99L	F	-	3	2	ATR	143764637	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.322000	0.43814	0.741000	0.32674	-0.444000	0.05651	TTC		0.313	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		46	125	0	0	0	1	0	46	125				
LOC442028	442028	broad.mit.edu	37	2	95558407	95558407	+	RNA	SNP	A	A	G	rs5006801		TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr2:95558407A>G	ENST00000568768.1	-	0	476																											CTCAAAACAGAATGCATCTGG	0.463																																						ENST00000568768.1																			0																																																			442028							g.chr2:95558407A>G																													2.37:g.95558407A>G														0	476	-									RNA	SNP	ENST00000568768.1	37																																																																																						0.463	AC097374.2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000431504.1			3	34	0	0	0	1	0	3	34				
NAT9	26151	broad.mit.edu	37	17	72767908	72767908	+	Silent	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr17:72767908G>A	ENST00000357814.3	-	7	652	c.579C>T	c.(577-579)caC>caT	p.H193H	NAT9_ENST00000582524.1_3'UTR|NAT9_ENST00000582870.1_Silent_p.H197H|NAT9_ENST00000583757.1_3'UTR|NAT9_ENST00000580216.1_5'Flank|NAT9_ENST00000583476.1_3'UTR|NAT9_ENST00000578822.1_Silent_p.H198H|NAT9_ENST00000581136.1_Silent_p.H188H|NAT9_ENST00000580632.1_Silent_p.H193H|NAT9_ENST00000580301.1_Silent_p.H192H	NM_015654.3	NP_056469.2	Q9BTE0	NAT9_HUMAN	N-acetyltransferase 9 (GCN5-related, putative)	193						protein complex (GO:0043234)	N-acetyltransferase activity (GO:0008080)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)	8						TCTCTTCCACGTGGCTGGTCT	0.592																																						ENST00000357814.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)	8						c.(577-579)caC>caT		N-acetyltransferase 9 (GCN5-related, putative)							55.0	52.0	53.0					17																	72767908		2203	4300	6503	SO:0001819	synonymous_variant	26151					protein complex	N-acetyltransferase activity	g.chr17:72767908G>A	AK123115	CCDS11706.1	17q25.2	2011-11-25	2008-09-24		ENSG00000109065	ENSG00000109065			23133	protein-coding gene	gene with protein product			"""N-acetyltransferase 9"""			14608357	Standard	NM_015654		Approved	DKFZP564C103	uc002jlq.3	Q9BTE0		ENST00000357814.3:c.579C>T	17.37:g.72767908G>A						NAT9_ENST00000578822.1_Silent_p.H198H|NAT9_ENST00000583757.1_3'UTR|NAT9_ENST00000583476.1_3'UTR|NAT9_ENST00000581136.1_Silent_p.H188H|NAT9_ENST00000580301.1_Silent_p.H192H|NAT9_ENST00000580632.1_Silent_p.H193H|NAT9_ENST00000582524.1_3'UTR|NAT9_ENST00000582870.1_Silent_p.H197H	p.H193H	NM_015654.3	NP_056469.2	Q9BTE0	NAT9_HUMAN			7	652	-			193					B2R7F0|Q9BTD0|Q9Y3T3	Silent	SNP	ENST00000357814.3	37	c.579C>T	CCDS11706.1																																																																																				0.592	NAT9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000443700.1	NM_015654		18	40	0	0	0	1	0	18	40				
PHPT1	29085	broad.mit.edu	37	9	139747802	139747802	+	IGR	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr9:139747802G>A	ENST00000247665.10	+	0	890				MAMDC4_ENST00000445819.1_Missense_Mutation_p.G74S|MAMDC4_ENST00000317446.2_Missense_Mutation_p.G74S|MAMDC4_ENST00000485732.1_3'UTR	NM_014172.4	NP_054891.2	Q9NRX4	PHP14_HUMAN	phosphohistidine phosphatase 1						negative regulation of ATP citrate synthase activity (GO:2000984)|negative regulation of lyase activity (GO:0051350)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-histidine dephosphorylation (GO:0035971)|positive regulation of cell motility (GO:2000147)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|protein dephosphorylation (GO:0006470)|regulation of actin cytoskeleton reorganization (GO:2000249)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium channel inhibitor activity (GO:0019855)|ion channel binding (GO:0044325)|phosphohistidine phosphatase activity (GO:0008969)|phosphoprotein phosphatase activity (GO:0004721)			NS(1)|large_intestine(1)|lung(1)	3	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		GGACCCCTGCGGCTGGCGGGA	0.677																																						ENST00000445819.1																			0				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19						c.(220-222)Ggc>Agc		MAM domain containing 4							31.0	36.0	34.0					9																	139747802		2199	4292	6491	SO:0001628	intergenic_variant	158056				protein transport	integral to membrane		g.chr9:139747802G>A	AF131857	CCDS7009.1, CCDS48060.1	9q34.3	2008-02-05			ENSG00000054148	ENSG00000054148	3.1.3.-		30033	protein-coding gene	gene with protein product	"""phosphohistidine phosphatase 14kDa"", "" sex-regulated protein janus-a"""	610167				11042152, 8619474	Standard	NM_014172		Approved	PHP14, HSPC141, CGI-202, DKFZp564M173, bA216L13.10	uc004cjq.4	Q9NRX4	OTTHUMG00000020950		9.37:g.139747802G>A						MAMDC4_ENST00000317446.2_Missense_Mutation_p.G74S|MAMDC4_ENST00000485732.1_3'UTR	p.G74S			Q6UXC1	AEGP_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)	3	270	+	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)	74			MAM 1.		B1AMX0|B1AMX1|Q9H0Y3	Missense_Mutation	SNP	ENST00000247665.10	37	c.220G>A	CCDS7009.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	25.9|25.9	4.682558|4.682558	0.88542|0.88542	.|.	.|.	ENSG00000177943|ENSG00000177943	ENST00000317446;ENST00000445819|ENST00000413647	T;T|.	0.02525|.	4.26;4.26|.	4.62|4.62	4.62|4.62	0.57501|0.57501	.|.	0.000000|.	0.64402|.	D|.	0.000020|.	T|T	0.77772|0.77772	0.4180|0.4180	M|M	0.82630|0.82630	2.6|2.6	0.45272|0.45272	D|D	0.998279|0.998279	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|T	0.80487|0.80487	-0.1361|-0.1361	10|5	0.34782|.	T|.	0.22|.	-31.3777|-31.3777	16.0035|16.0035	0.80327|0.80327	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	74|.	Q6UXC1-2|.	.|.	S|Q	74|55	ENSP00000319388:G74S;ENSP00000411339:G74S|.	ENSP00000319388:G74S|.	G|R	+|+	1|2	0|0	MAMDC4|MAMDC4	138867623|138867623	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.672000|0.672000	0.39443|0.39443	7.079000|7.079000	0.76829|0.76829	2.112000|2.112000	0.64535|0.64535	0.561000|0.561000	0.74099|0.74099	GGC|CGG		0.677	PHPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055150.1	NM_014172		16	64	0	0	0	1	0	16	64				
OSBPL6	114880	broad.mit.edu	37	2	179197667	179197667	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr2:179197667G>A	ENST00000190611.4	+	8	932	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K	OSBPL6_ENST00000409045.3_Missense_Mutation_p.E186K|OSBPL6_ENST00000315022.2_Missense_Mutation_p.E165K|OSBPL6_ENST00000359685.3_Missense_Mutation_p.E186K|OSBPL6_ENST00000357080.4_Missense_Mutation_p.E186K|OSBPL6_ENST00000409631.1_Missense_Mutation_p.E186K|OSBPL6_ENST00000392505.2_Missense_Mutation_p.E186K	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	186					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TCGTCAGAATGAAATTGTGAG	0.418																																						ENST00000190611.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(556-558)Gaa>Aaa		oxysterol binding protein-like 6							157.0	144.0	148.0					2																	179197667		2203	4300	6503	SO:0001583	missense	114880				lipid transport		lipid binding	g.chr2:179197667G>A	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"""Oxysterol binding proteins"""	16388	protein-coding gene	gene with protein product	"""OSBP-related protein 6"""	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.556G>A	2.37:g.179197667G>A	ENSP00000190611:p.Glu186Lys					OSBPL6_ENST00000315022.2_Missense_Mutation_p.E165K|OSBPL6_ENST00000409631.1_Missense_Mutation_p.E186K|OSBPL6_ENST00000409045.3_Missense_Mutation_p.E186K|OSBPL6_ENST00000359685.3_Missense_Mutation_p.E186K|OSBPL6_ENST00000392505.2_Missense_Mutation_p.E186K|OSBPL6_ENST00000357080.4_Missense_Mutation_p.E186K	p.E186K	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)		8	932	+			186					B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Missense_Mutation	SNP	ENST00000190611.4	37	c.556G>A	CCDS2277.1	.	.	.	.	.	.	.	.	.	.	G	36	5.916249	0.97099	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000357080;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T;T	0.15017	2.54;2.53;2.46;2.51;2.56;2.53;2.55	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.44435	0.1293	M	0.72894	2.215	0.80722	D	1	P;D;D;D;D;D	0.76494	0.918;0.999;0.996;0.999;0.998;0.998	P;D;D;D;D;D	0.83275	0.749;0.996;0.981;0.996;0.986;0.991	T	0.12734	-1.0536	10	0.46703	T	0.11	-20.2381	19.9215	0.97087	0.0:0.0:1.0:0.0	.	186;165;186;186;186;186	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3;Q86V84	.;.;.;.;OSBL6_HUMAN;.	K	186;186;186;186;186;186;165	ENSP00000376293:E186K;ENSP00000352713:E186K;ENSP00000349591:E186K;ENSP00000387248:E186K;ENSP00000190611:E186K;ENSP00000386885:E186K;ENSP00000318723:E165K	ENSP00000190611:E186K	E	+	1	0	OSBPL6	178905913	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.785000	0.95823	0.655000	0.94253	GAA		0.418	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523		33	89	0	0	0	1	0	33	89				
TBX1	6899	broad.mit.edu	37	22	19754274	19754274	+	Intron	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr22:19754274C>T	ENST00000329705.7	+	8	1138				TBX1_ENST00000359500.3_Intron|TBX1_ENST00000332710.4_Missense_Mutation_p.P458S	NM_080646.1	NP_542377.1	O43435	TBX1_HUMAN	T-box 1						angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|aorta morphogenesis (GO:0035909)|artery morphogenesis (GO:0048844)|blood vessel development (GO:0001568)|blood vessel morphogenesis (GO:0048514)|blood vessel remodeling (GO:0001974)|cell fate specification (GO:0001708)|cell proliferation (GO:0008283)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|coronary artery morphogenesis (GO:0060982)|determination of left/right symmetry (GO:0007368)|ear morphogenesis (GO:0042471)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic viscerocranium morphogenesis (GO:0048703)|enamel mineralization (GO:0070166)|epithelial cell differentiation (GO:0030855)|face morphogenesis (GO:0060325)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|lymph vessel development (GO:0001945)|mesenchymal cell apoptotic process (GO:0097152)|mesoderm development (GO:0007498)|middle ear morphogenesis (GO:0042474)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle organ morphogenesis (GO:0048644)|muscle tissue morphogenesis (GO:0060415)|negative regulation of cell differentiation (GO:0045596)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|parathyroid gland development (GO:0060017)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of tongue muscle cell differentiation (GO:2001037)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of organ morphogenesis (GO:2000027)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retinoic acid receptor signaling pathway (GO:0048384)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|social behavior (GO:0035176)|soft palate development (GO:0060023)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|tongue morphogenesis (GO:0043587)|transcription, DNA-templated (GO:0006351)|vagus nerve morphogenesis (GO:0021644)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				CCACCACCACCCCGTGAGTCC	0.776																																						ENST00000332710.4																			0				breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	GRCh37	CI015338	TBX1	I		c.(1372-1374)Ccc>Tcc		T-box 1							4.0	5.0	5.0					22																	19754274		1387	2887	4274	SO:0001627	intron_variant	6899				embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:19754274C>T	AF012131	CCDS13765.1, CCDS13766.1, CCDS13767.1	22q11.21	2014-09-17			ENSG00000184058	ENSG00000184058		"""T-boxes"""	11592	protein-coding gene	gene with protein product		602054	"""velocardiofacial syndrome"""	VCF		9268629, 23000736	Standard	NM_080646		Approved	CATCH22	uc002zqa.1	O43435	OTTHUMG00000150421	ENST00000329705.7:c.1009+749C>T	22.37:g.19754274C>T						TBX1_ENST00000329705.7_Intron|TBX1_ENST00000359500.3_Intron	p.P458S	NM_080647.1	NP_542378.1	O43435	TBX1_HUMAN			9	1501	+	Colorectal(54;0.0993)	all_lung(157;3.05e-06)	71					C6G493|C6G494|O43436|Q96RJ2	Missense_Mutation	SNP	ENST00000329705.7	37	c.1372C>T	CCDS13766.1	.	.	.	.	.	.	.	.	.	.	C	2.979	-0.210766	0.06140	.	.	ENSG00000184058	ENST00000332710	D	0.85411	-1.98	3.85	-1.36	0.09085	.	1.321060	0.06018	U	0.650736	T	0.68659	0.3025	N	0.08118	0	0.18873	N	0.999989	B	0.06786	0.001	B	0.06405	0.002	T	0.53078	-0.8489	10	0.20046	T	0.44	.	8.6849	0.34232	0.1039:0.604:0.2921:0.0	.	458	D9ZGG0	.	S	458	ENSP00000331791:P458S	ENSP00000331791:P458S	P	+	1	0	TBX1	18134274	0.157000	0.22836	0.055000	0.19348	0.249000	0.25844	0.927000	0.28818	0.060000	0.16281	0.174000	0.16983	CCC		0.776	TBX1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318033.1	NM_080647		6	11	0	0	0	1	0	6	11				
NCKAP5	344148	broad.mit.edu	37	2	133489544	133489544	+	Missense_Mutation	SNP	G	G	A	rs202128241		TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr2:133489544G>A	ENST00000409261.1	-	17	5582	c.5209C>T	c.(5209-5211)Cgc>Tgc	p.R1737C	NCKAP5_ENST00000317721.6_Missense_Mutation_p.R1737C|NCKAP5_ENST00000473859.1_5'UTR|NCKAP5_ENST00000409213.1_Missense_Mutation_p.R418C|NCKAP5_ENST00000405974.3_Missense_Mutation_p.R418C	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1737										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CATAGGTAGCGTCCTGTCGAG	0.547																																						ENST00000409261.1																			0				NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(5209-5211)Cgc>Tgc		NCK-associated protein 5		G	CYS/ARG,CYS/ARG	2,4136		0,2,2067	87.0	94.0	92.0		5209,1252	4.3	0.8	2		92	1,8411		0,1,4205	yes	missense,missense	NCKAP5	NM_207363.2,NM_207481.3	180,180	0,3,6272	AA,AG,GG		0.0119,0.0483,0.0239	probably-damaging,probably-damaging	1737/1910,418/591	133489544	3,12547	2069	4206	6275	SO:0001583	missense	344148						protein binding	g.chr2:133489544G>A	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.5209C>T	2.37:g.133489544G>A	ENSP00000387128:p.Arg1737Cys					NCKAP5_ENST00000409213.1_Missense_Mutation_p.R418C|NCKAP5_ENST00000405974.3_Missense_Mutation_p.R418C|NCKAP5_ENST00000317721.6_Missense_Mutation_p.R1737C|NCKAP5_ENST00000473859.1_5'UTR	p.R1737C	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN			17	5582	-			1737					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.5209C>T	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	G	13.46	2.243563	0.39697	4.83E-4	1.19E-4	ENSG00000176771	ENST00000409261;ENST00000409213;ENST00000317721;ENST00000405974;ENST00000537661	T;T;T;T	0.57752	2.41;0.38;2.41;0.38	5.2	4.32	0.51571	.	0.000000	0.29431	U	0.012167	T	0.60470	0.2271	L	0.29908	0.895	0.37307	D	0.908956	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.68577	-0.5372	10	0.87932	D	0	.	12.9359	0.58313	0.0:0.0:0.6279:0.372	.	418;1737	O14513-2;O14513	.;NCKP5_HUMAN	C	1737;418;1737;418;418	ENSP00000387128:R1737C;ENSP00000386952:R418C;ENSP00000380603:R1737C;ENSP00000385692:R418C	ENSP00000380603:R1737C	R	-	1	0	NCKAP5	133206014	1.000000	0.71417	0.776000	0.31678	0.056000	0.15407	2.425000	0.44723	1.432000	0.47375	-0.152000	0.13540	CGC		0.547	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		16	37	0	0	0	1	0	16	37				
DYNC1H1	1778	broad.mit.edu	37	14	102510384	102510384	+	Splice_Site	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr14:102510384C>T	ENST00000360184.4	+	70	12848		c.e70+2		RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ACGGCCAAGGCAAGTGTGGGC	0.587																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.e70+2		dynein, cytoplasmic 1, heavy chain 1							58.0	46.0	50.0					14																	102510384		2203	4300	6503	SO:0001630	splice_region_variant	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102510384C>T	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.12684+2C>T	14.37:g.102510384C>T						RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			70	12848	+								B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Splice_Site	SNP	ENST00000360184.4	37		CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.638134	0.47153	.	.	ENSG00000197102	ENST00000360184	.	.	.	5.73	1.9	0.25705	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.4529	0.32882	0.0:0.5484:0.0:0.4516	.	.	.	.	.	-1	.	.	.	+	.	.	DYNC1H1	101580137	1.000000	0.71417	0.891000	0.34965	0.840000	0.47671	1.201000	0.32259	0.362000	0.24319	0.655000	0.94253	.		0.587	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376	Intron	7	29	0	0	0	1	0	7	29				
ZFHX4	79776	broad.mit.edu	37	8	77766424	77766424	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr8:77766424C>G	ENST00000521891.2	+	10	7715	c.7267C>G	c.(7267-7269)Caa>Gaa	p.Q2423E	ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q2378E|ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q2378E|ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q2397E	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2378	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCCCCCTTCTCAAGGCACCAA	0.562										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(7267-7269)Caa>Gaa		zinc finger homeobox 4							41.0	68.0	59.0					8																	77766424		2017	4155	6172	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77766424C>G		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7267C>G	8.37:g.77766424C>G	ENSP00000430497:p.Gln2423Glu	HNSCC(33;0.089)				ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q2397E|ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q2378E|ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q2378E	p.Q2423E	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	7715	+			2378			Pro-rich.		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.7267C>G	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	6.181	0.401564	0.11696	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.50277	0.75;0.8;0.77;0.77	5.23	4.36	0.52297	.	0.000000	0.43110	U	0.000601	T	0.23766	0.0575	N	0.16478	0.41	0.26864	N	0.967884	P;P;P	0.37370	0.457;0.592;0.592	B;B;B	0.32805	0.073;0.153;0.153	T	0.23691	-1.0181	10	0.02654	T	1	.	10.3475	0.43913	0.0:0.8506:0.0:0.1494	.	2378;2378;2423	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	E	2423;2407;2378;2378;2397	ENSP00000430497:Q2423E;ENSP00000399605:Q2378E;ENSP00000050961:Q2378E;ENSP00000430848:Q2397E	ENSP00000050961:Q2378E	Q	+	1	0	ZFHX4	77928979	1.000000	0.71417	0.896000	0.35187	0.038000	0.13279	4.810000	0.62598	1.444000	0.47605	-0.143000	0.13931	CAA		0.562	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		3	12	0	0	0	1	0	3	12				
ABHD8	79575	broad.mit.edu	37	19	17411961	17411961	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr19:17411961C>A	ENST00000247706.3	-	2	704	c.465G>T	c.(463-465)aaG>aaT	p.K155N	MRPL34_ENST00000594999.1_5'Flank|MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	155							hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						GGATGGTCCTCTTGGGGCGCC	0.682																																					Ovarian(156;1368 2543 15275 41187)	ENST00000247706.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						c.(463-465)aaG>aaT		abhydrolase domain containing 8							39.0	43.0	42.0					19																	17411961		2202	4298	6500	SO:0001583	missense	79575						hydrolase activity	g.chr19:17411961C>A	AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220		"""Abhydrolase domain containing"""	23759	protein-coding gene	gene with protein product						12477932	Standard	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.465G>T	19.37:g.17411961C>A	ENSP00000247706:p.Lys155Asn					MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	p.K155N	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN			2	704	-			155					Q9HAE9	Missense_Mutation	SNP	ENST00000247706.3	37	c.465G>T	CCDS12355.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.781637	0.70222	.	.	ENSG00000127220	ENST00000247706;ENST00000544788	T	0.34859	1.34	5.03	4.0	0.46444	.	0.102235	0.64402	D	0.000003	T	0.45296	0.1335	L	0.34521	1.04	0.49213	D	0.999766	D	0.71674	0.998	D	0.78314	0.991	T	0.35325	-0.9793	10	0.52906	T	0.07	-36.9796	10.4754	0.44661	0.0:0.9052:0.0:0.0948	.	155	Q96I13	ABHD8_HUMAN	N	155;101	ENSP00000247706:K155N	ENSP00000247706:K155N	K	-	3	2	ABHD8	17272961	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.239000	0.43079	2.352000	0.79861	0.561000	0.74099	AAG		0.682	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462937.1	NM_024527		30	67	1	0	2.12542e-12	1	2.24818e-12	30	67				
SPEN	23013	broad.mit.edu	37	1	16258569	16258569	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr1:16258569C>T	ENST00000375759.3	+	11	6038	c.5834C>T	c.(5833-5835)cCc>cTc	p.P1945L		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1945					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GCAGCGGTTCCCACCACCCCT	0.587																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(5833-5835)cCc>cTc		spen family transcriptional repressor							40.0	44.0	43.0					1																	16258569		2202	4300	6502	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16258569C>T		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.5834C>T	1.37:g.16258569C>T	ENSP00000364912:p.Pro1945Leu						p.P1945L	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	6038	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	1945					Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.5834C>T	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.141065	0.37825	.	.	ENSG00000065526	ENST00000375759	T	0.09723	2.95	4.8	4.8	0.61643	.	.	.	.	.	T	0.13030	0.0316	L	0.53249	1.67	0.80722	D	1	B	0.32653	0.379	B	0.26517	0.07	T	0.05484	-1.0882	9	0.36615	T	0.2	-12.8636	18.1997	0.89834	0.0:1.0:0.0:0.0	.	1945	Q96T58	MINT_HUMAN	L	1945	ENSP00000364912:P1945L	ENSP00000364912:P1945L	P	+	2	0	SPEN	16131156	0.060000	0.20803	0.116000	0.21606	0.455000	0.32408	2.185000	0.42584	2.372000	0.80975	0.313000	0.20887	CCC		0.587	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		20	70	0	0	0	1	0	20	70				
DIDO1	11083	broad.mit.edu	37	20	61511058	61511058	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr20:61511058C>T	ENST00000266070.4	-	16	6575	c.6250G>A	c.(6250-6252)Gaa>Aaa	p.E2084K	DIDO1_ENST00000395343.1_Missense_Mutation_p.E2084K	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2084					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TGCCTCCCTTCGAAAGTCTGG	0.672																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(6250-6252)Gaa>Aaa		death inducer-obliterator 1							112.0	125.0	121.0					20																	61511058		2172	4256	6428	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61511058C>T	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.6250G>A	20.37:g.61511058C>T	ENSP00000266070:p.Glu2084Lys					DIDO1_ENST00000395343.1_Missense_Mutation_p.E2084K	p.E2084K	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	6575	-	Breast(26;5.68e-08)		2084					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.6250G>A	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.117781	0.56505	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.13307	2.6;2.6	5.15	3.11	0.35812	.	0.000000	0.41938	U	0.000785	T	0.27697	0.0681	M	0.66939	2.045	0.80722	D	1	D	0.71674	0.998	P	0.53988	0.739	T	0.04961	-1.0915	10	0.66056	D	0.02	-33.8318	15.0937	0.72217	0.0:0.7305:0.2695:0.0	.	2084	Q9BTC0	DIDO1_HUMAN	K	2084	ENSP00000266070:E2084K;ENSP00000378752:E2084K	ENSP00000266070:E2084K	E	-	1	0	DIDO1	60981503	0.998000	0.40836	0.028000	0.17463	0.009000	0.06853	5.321000	0.65846	0.485000	0.27652	0.655000	0.94253	GAA		0.672	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		85	185	0	0	0	1	0	85	185				
SUV420H1	51111	broad.mit.edu	37	11	67925460	67925460	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr11:67925460C>T	ENST00000304363.4	-	11	2706	c.2353G>A	c.(2353-2355)Gag>Aag	p.E785K		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	785					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CTATTTTCCTCATCTCGTTTT	0.408																																						ENST00000304363.4																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						c.(2353-2355)Gag>Aag		suppressor of variegation 4-20 homolog 1 (Drosophila)							190.0	208.0	202.0					11																	67925460		2200	4294	6494	SO:0001583	missense	51111				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr11:67925460C>T	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.2353G>A	11.37:g.67925460C>T	ENSP00000305899:p.Glu785Lys						p.E785K	NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN			11	2706	-			785					B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	37	c.2353G>A	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	C	18.93	3.726702	0.69074	.	.	ENSG00000110066	ENST00000304363	T	0.54071	0.59	5.39	5.39	0.77823	.	0.049384	0.85682	D	0.000000	T	0.43942	0.1270	L	0.29908	0.895	0.80722	D	1	P	0.39665	0.682	B	0.34722	0.188	T	0.51116	-0.8746	10	0.87932	D	0	-29.42	19.1401	0.93444	0.0:1.0:0.0:0.0	.	785	Q4FZB7	SV421_HUMAN	K	785	ENSP00000305899:E785K	ENSP00000305899:E785K	E	-	1	0	SUV420H1	67682036	1.000000	0.71417	0.998000	0.56505	0.916000	0.54674	5.588000	0.67517	2.536000	0.85505	0.491000	0.48974	GAG		0.408	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635		62	169	0	0	0	1	0	62	169				
CYP2B7P	1556	broad.mit.edu	37	19	41455118	41455118	+	RNA	SNP	G	G	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr19:41455118G>T	ENST00000597260.1	+	0	1098				CYP2B7P1_ENST00000599198.1_RNA																							CAACATACCAGATCTGCTTCC	0.577																																						ENST00000599198.1																			0				NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12																																														1556							g.chr19:41455118G>T																													19.37:g.41455118G>T								NR_001278.1						0	1509	+									RNA	SNP	ENST00000597260.1	37																																																																																						0.577	AC092071.1-001	KNOWN	basic	sense_intronic	sense_intronic	OTTHUMT00000463563.1			10	26	1	0	4.68919e-08	1	4.88944e-08	10	26				
ATXN2	6311	broad.mit.edu	37	12	111891606	111891606	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr12:111891606T>C	ENST00000377617.3	-	24	3949	c.3788A>G	c.(3787-3789)cAt>cGt	p.H1263R	ATXN2_ENST00000608853.1_Missense_Mutation_p.H1103R|ATXN2_ENST00000542287.2_Missense_Mutation_p.H1023R|ATXN2_ENST00000550104.1_3'UTR|ATXN2_ENST00000535949.1_Missense_Mutation_p.H956R|ATXN2_ENST00000389153.4_Missense_Mutation_p.H1000R	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	1263					cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						CATTGGCGCATGGGCAGTTGG	0.542																																						ENST00000377617.3																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						c.(3787-3789)cAt>cGt		ataxin 2							145.0	118.0	128.0					12																	111891606		2203	4300	6503	SO:0001583	missense	6311				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding	g.chr12:111891606T>C	U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"""Ataxins"""	10555	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 13"""	601517	"""spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"""	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.3788A>G	12.37:g.111891606T>C	ENSP00000366843:p.His1263Arg					ATXN2_ENST00000389153.4_Missense_Mutation_p.H1000R|ATXN2_ENST00000550104.1_3'UTR|ATXN2_ENST00000535949.1_Missense_Mutation_p.H956R|ATXN2_ENST00000542287.2_Missense_Mutation_p.H1023R	p.H1263R	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN			24	3949	-			1263					A6NLD4|Q6ZQZ7|Q99493	Missense_Mutation	SNP	ENST00000377617.3	37	c.3788A>G	CCDS31902.1	.	.	.	.	.	.	.	.	.	.	T	12.07	1.828395	0.32329	.	.	ENSG00000204842	ENST00000389153;ENST00000377617;ENST00000542287;ENST00000535949	T	0.70045	-0.45	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.42108	0.1188	N	0.12182	0.205	0.80722	D	1	P;B;B	0.40731	0.728;0.164;0.082	B;B;B	0.27887	0.084;0.04;0.036	T	0.49679	-0.8914	10	0.09590	T	0.72	-13.1288	16.6438	0.85155	0.0:0.0:0.0:1.0	.	1263;956;1023	Q99700;Q24JQ7;F8VQP2	ATX2_HUMAN;.;.	R	1000;1263;1023;956	ENSP00000366843:H1263R	ENSP00000366843:H1263R	H	-	2	0	ATXN2	110375989	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.047000	0.76599	2.333000	0.79357	0.533000	0.62120	CAT		0.542	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	NM_002973		9	35	0	0	0	1	0	9	35				
ABO	28	broad.mit.edu	37	9	136131292	136131292	+	RNA	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr9:136131292C>T	ENST00000453660.2	-	0	836				RP11-430N14.4_ENST00000606717.1_RNA			P16442	BGAT_HUMAN	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)						protein glycosylation (GO:0006486)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosylgalactoside 3-alpha-galactosyltransferase activity (GO:0004381)|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity (GO:0004380)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		CGCTGCACCTCTTGCACCGAC	0.657																																						ENST00000453660.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11								ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)							32.0	36.0	35.0					9																	136131292		2051	4197	6248			28				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding	g.chr9:136131292C>T	AF134415		9q34.2	2014-07-19			ENSG00000175164	ENSG00000175164	2.4.1.40, 2.4.1.37	"""Blood group antigens"", ""Glycosyltransferase family 6 domain containing"""	79	protein-coding gene	gene with protein product		110300				184030	Standard	NM_020469		Approved	A3GALNT, A3GALT1	uc004cda.1	P16442	OTTHUMG00000020872		9.37:g.136131292C>T										P16442	BGAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)	0	836	-								B0JDB9|O14758|Q14490|Q53I57|Q6ISD4|Q6KFZ2|Q70V27|Q99484|Q99485|Q9NY01|Q9UQ68|Q9UQ69	RNA	SNP	ENST00000453660.2	37																																																																																						0.657	ABO-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000054907.4	NM_020469		10	35	0	0	0	1	0	10	35				
CASP8	841	broad.mit.edu	37	2	202149751	202149751	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr2:202149751C>T	ENST00000432109.2	+	9	1204	c.1015C>T	c.(1015-1017)Cag>Tag	p.Q339*	CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000358485.4_Nonsense_Mutation_p.Q398*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.Q356*|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264274.9_Nonsense_Mutation_p.Q255*|CASP8_ENST00000323492.7_Nonsense_Mutation_p.Q324*	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	339					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)	p.Q356*(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GCTGACATCTCAGTTCACTGG	0.478										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	ENST00000358485.4																			1	Substitution - Nonsense(1)	p.Q356*(1)	breast(1)	breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						c.(1192-1194)Cag>Tag		caspase 8, apoptosis-related cysteine peptidase							137.0	122.0	127.0					2																	202149751		2203	4300	6503	SO:0001587	stop_gained	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	g.chr2:202149751C>T	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.1015C>T	2.37:g.202149751C>T	ENSP00000412523:p.Gln339*	HNSCC(4;0.00038)				CASP8_ENST00000264274.9_Nonsense_Mutation_p.Q255*|CASP8_ENST00000432109.2_Nonsense_Mutation_p.Q339*|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000323492.7_Nonsense_Mutation_p.Q324*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.Q356*	p.Q398*	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN			8	1388	+			339					O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Nonsense_Mutation	SNP	ENST00000432109.2	37	c.1192C>T	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.854178	0.91355	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000432109;ENST00000264275;ENST00000358485;ENST00000323492;ENST00000444430	.	.	.	5.68	4.54	0.55810	.	0.380203	0.30556	N	0.009380	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	10.8752	0.46906	0.0:0.075:0.0:0.925	.	.	.	.	X	324;255;339;356;398;324;118	.	ENSP00000264274:Q255X	Q	+	1	0	CASP8	201857996	0.217000	0.23597	1.000000	0.80357	0.645000	0.38454	3.232000	0.51302	1.004000	0.39156	-0.367000	0.07326	CAG		0.478	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		38	99	0	0	0	1	0	38	99				
OSBPL1A	114876	broad.mit.edu	37	18	21739723	21739723	+	IGR	SNP	C	C	G			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr18:21739723C>G	ENST00000319481.3	-	0	4195				CABYR_ENST00000327201.6_Missense_Mutation_p.P179A|CABYR_ENST00000581397.1_Missense_Mutation_p.P277A|RP11-799B12.4_ENST00000583267.1_lincRNA|CABYR_ENST00000399499.1_Missense_Mutation_p.P277A|CABYR_ENST00000415309.2_Intron|CABYR_ENST00000399496.3_Missense_Mutation_p.P277A	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					GAAACCTCTTCCTGGACATGC	0.458																																						ENST00000399496.3																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11						c.(829-831)Cct>Gct		calcium binding tyrosine-(Y)-phosphorylation regulated							89.0	89.0	89.0					18																	21739723		2203	4300	6503	SO:0001628	intergenic_variant	26256				ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding	g.chr18:21739723C>G	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944		18.37:g.21739723C>G						RP11-799B12.4_ENST00000583267.1_lincRNA|CABYR_ENST00000581397.1_Missense_Mutation_p.P277A|CABYR_ENST00000399499.1_Missense_Mutation_p.P277A|CABYR_ENST00000415309.2_Intron|CABYR_ENST00000327201.6_Missense_Mutation_p.P179A	p.P277A	NM_012189.2|NM_153769.1	NP_036321.2|NP_722453.1	O75952	CABYR_HUMAN			5	994	+	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)		0					B7Z7D3|Q9BZF5|Q9NW87	Missense_Mutation	SNP	ENST00000319481.3	37	c.829C>G	CCDS11884.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.176170	0.57692	.	.	ENSG00000154040	ENST00000399496;ENST00000327201;ENST00000399499	T;T	0.61742	0.08;0.08	4.85	4.85	0.62838	.	.	.	.	.	T	0.62841	0.2461	L	0.29908	0.895	0.80722	D	1	D	0.71674	0.998	D	0.68621	0.959	T	0.66364	-0.5942	9	0.87932	D	0	.	11.6838	0.51474	0.0:0.9145:0.0:0.0855	.	277	O75952-3	.	A	277;179;277	ENSP00000382419:P277A;ENSP00000382421:P277A	ENSP00000317095:P179A	P	+	1	0	CABYR	19993721	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.595000	0.36708	2.227000	0.72691	0.563000	0.77884	CCT		0.458	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		28	65	0	0	0	1	0	28	65				
BGN	633	broad.mit.edu	37	X	152771515	152771515	+	Silent	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chrX:152771515C>T	ENST00000331595.4	+	4	732	c.546C>T	c.(544-546)ctC>ctT	p.L182L	BGN_ENST00000480756.1_3'UTR	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan	182					blood vessel remodeling (GO:0001974)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|transport vesicle (GO:0030133)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|glycosaminoglycan binding (GO:0005539)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCAGCGGGCTCCGGAACATGA	0.612																																						ENST00000331595.4																			0				breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16						c.(544-546)ctC>ctT		biglycan							47.0	43.0	45.0					X																	152771515		2203	4300	6503	SO:0001819	synonymous_variant	633					proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent	g.chrX:152771515C>T	AK092954	CCDS14721.1	Xq28	2008-02-05			ENSG00000182492	ENSG00000182492		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	1044	protein-coding gene	gene with protein product	"""biglycan proteoglycan"""	301870				1612609	Standard	NM_001711		Approved	DSPG1, SLRR1A	uc004fhr.2	P21810	OTTHUMG00000024205	ENST00000331595.4:c.546C>T	X.37:g.152771515C>T						BGN_ENST00000480756.1_3'UTR|BGN_ENST00000370204.1_Silent_p.L121L	p.L182L	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN			4	732	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		182					D3DWU3|P13247	Silent	SNP	ENST00000331595.4	37	c.546C>T	CCDS14721.1																																																																																				0.612	BGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060981.1	NM_001711		22	39	0	0	0	1	0	22	39				
C1orf64	149563	broad.mit.edu	37	1	16332641	16332641	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr1:16332641G>T	ENST00000329454.2	+	2	378	c.310G>T	c.(310-312)Gcc>Tcc	p.A104S	RP11-5P18.5_ENST00000437156.1_RNA	NM_178840.2	NP_849162.1	Q8NEQ6	CA064_HUMAN	chromosome 1 open reading frame 64	104										breast(2)|endometrium(1)|lung(3)	6		Colorectal(325;0.000435)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;2.08e-05)|BRCA - Breast invasive adenocarcinoma(304;9.19e-05)|Kidney(64;0.000165)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649)		GGGATGCCTTGCCCAGGCCAG	0.647																																						ENST00000329454.2																			0				breast(2)|endometrium(1)|lung(3)	6						c.(310-312)Gcc>Tcc		chromosome 1 open reading frame 64							50.0	52.0	51.0					1																	16332641		2203	4300	6503	SO:0001583	missense	149563							g.chr1:16332641G>T	AK127425	CCDS166.1	1p36.13	2013-10-11			ENSG00000183888	ENSG00000183888			28339	protein-coding gene	gene with protein product	"""ER-related factor"""					22341523	Standard	NM_178840		Approved	MGC24047, ERRF	uc001axn.3	Q8NEQ6	OTTHUMG00000009523	ENST00000329454.2:c.310G>T	1.37:g.16332641G>T	ENSP00000332162:p.Ala104Ser						p.A104S	NM_178840.2	NP_849162.1	Q8NEQ6	CA064_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;2.08e-05)|BRCA - Breast invasive adenocarcinoma(304;9.19e-05)|Kidney(64;0.000165)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649)	2	378	+		Colorectal(325;0.000435)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	104					B3KXI9	Missense_Mutation	SNP	ENST00000329454.2	37	c.310G>T	CCDS166.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.723172	0.48728	.	.	ENSG00000183888	ENST00000329454	T	0.52057	0.68	5.21	1.2	0.21068	.	0.735760	0.12224	N	0.488089	T	0.25717	0.0626	N	0.17082	0.46	0.09310	N	1	B	0.23937	0.094	B	0.19946	0.027	T	0.15752	-1.0426	10	0.30854	T	0.27	-1.6628	3.4687	0.07559	0.2829:0.0:0.5384:0.1787	.	104	Q8NEQ6	CA064_HUMAN	S	104	ENSP00000332162:A104S	ENSP00000332162:A104S	A	+	1	0	C1orf64	16205228	0.000000	0.05858	0.000000	0.03702	0.094000	0.18550	0.076000	0.14712	0.217000	0.20800	0.462000	0.41574	GCC		0.647	C1orf64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026317.1	NM_178840		35	66	1	0	4.34311e-12	1	4.56104e-12	35	66				
COL15A1	1306	broad.mit.edu	37	9	101796853	101796853	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr9:101796853C>T	ENST00000375001.3	+	17	2489	c.2066C>T	c.(2065-2067)tCa>tTa	p.S689L		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	689	Collagen-like 2.|Triple-helical region 2 (COL2).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CCTAATGGCTCAGTTGGTGAA	0.353																																						ENST00000375001.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107						c.(2065-2067)tCa>tTa		collagen, type XV, alpha 1							28.0	30.0	29.0					9																	101796853		2181	4296	6477	SO:0001583	missense	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101796853C>T	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.2066C>T	9.37:g.101796853C>T	ENSP00000364140:p.Ser689Leu						p.S689L	NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN			17	2489	+		Acute lymphoblastic leukemia(62;0.0562)	689			Triple-helical region 2 (COL2).		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	c.2066C>T	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.091655	0.55968	.	.	ENSG00000204291	ENST00000375001;ENST00000536083	D	0.92595	-3.07	5.11	5.11	0.69529	.	0.281928	0.35407	N	0.003226	D	0.88706	0.6509	N	0.02403	-0.565	0.35264	D	0.779861	D	0.62365	0.991	D	0.78314	0.991	D	0.90425	0.4420	10	0.27785	T	0.31	-15.3749	14.0338	0.64632	0.0:1.0:0.0:0.0	.	689	P39059	COFA1_HUMAN	L	689;659	ENSP00000364140:S689L	ENSP00000364140:S689L	S	+	2	0	COL15A1	100836674	0.890000	0.30428	0.977000	0.42913	0.984000	0.73092	3.816000	0.55658	2.354000	0.79902	0.655000	0.94253	TCA		0.353	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		10	50	0	0	0	1	0	10	50				
SORCS1	114815	broad.mit.edu	37	10	108412183	108412183	+	Missense_Mutation	SNP	G	G	T	rs150967356	byFrequency	TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr10:108412183G>T	ENST00000263054.6	-	18	2439	c.2432C>A	c.(2431-2433)gCg>gAg	p.A811E	SORCS1_ENST00000369698.1_Missense_Mutation_p.A346E|SORCS1_ENST00000344440.6_Missense_Mutation_p.A811E	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	811	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.A811V(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TCCTTGTTCCGCTGTCAGCTT	0.522																																						ENST00000263054.6																			1	Substitution - Missense(1)	p.A811V(1)	large_intestine(1)	breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127						c.(2431-2433)gCg>gAg		sortilin-related VPS10 domain containing receptor 1							127.0	113.0	118.0					10																	108412183		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108412183G>T	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.2432C>A	10.37:g.108412183G>T	ENSP00000263054:p.Ala811Glu					SORCS1_ENST00000344440.6_Missense_Mutation_p.A811E|SORCS1_ENST00000369698.1_Missense_Mutation_p.A346E	p.A811E	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	18	2439	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	811			PKD.		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.2432C>A	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057554	0.76074	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.62232	0.04;0.04;0.04	5.74	5.74	0.90152	PKD/Chitinase domain (1);PKD domain (2);	0.000000	0.85682	D	0.000000	T	0.76343	0.3974	L	0.54323	1.7	0.54753	D	0.999985	D;D;D;D;D	0.76494	0.997;0.996;0.996;0.999;0.996	D;D;D;D;D	0.74348	0.983;0.972;0.972;0.983;0.972	T	0.73193	-0.4060	9	.	.	.	-17.331	19.9145	0.97053	0.0:0.0:1.0:0.0	.	811;811;811;811;811	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	E	346;811;811	ENSP00000358712:A346E;ENSP00000263054:A811E;ENSP00000345964:A811E	.	A	-	2	0	SORCS1	108402173	1.000000	0.71417	0.629000	0.29254	0.272000	0.26649	9.277000	0.95755	2.709000	0.92574	0.655000	0.94253	GCG		0.522	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		18	56	1	0	8.34094e-07	1	8.63567e-07	18	56				
TMTC2	160335	broad.mit.edu	37	12	83250975	83250975	+	Silent	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr12:83250975C>T	ENST00000321196.3	+	2	977	c.270C>T	c.(268-270)gtC>gtT	p.V90V	TMTC2_ENST00000548305.1_Silent_p.V90V|TMTC2_ENST00000549919.1_Silent_p.V84V	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	90					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						ACCATCTTGTCAATGTCCTGT	0.517																																						ENST00000549919.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						c.(250-252)gtC>gtT		transmembrane and tetratricopeptide repeat containing 2							153.0	148.0	150.0					12																	83250975		2203	4300	6503	SO:0001819	synonymous_variant	160335					endoplasmic reticulum|integral to membrane	binding	g.chr12:83250975C>T	AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"""Tetratricopeptide (TTC) repeat domain containing"""	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.270C>T	12.37:g.83250975C>T						TMTC2_ENST00000548305.1_Silent_p.V90V|TMTC2_ENST00000321196.3_Silent_p.V90V	p.V84V			Q8N394	TMTC2_HUMAN			3	2057	+			90					B2RCU7|Q8N2K8	Silent	SNP	ENST00000321196.3	37	c.252C>T	CCDS9025.1																																																																																				0.517	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588		39	91	0	0	0	1	0	39	91				
P4HTM	54681	broad.mit.edu	37	3	49028032	49028032	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr3:49028032G>C	ENST00000383729.4	+	1	714	c.343G>C	c.(343-345)Gag>Cag	p.E115Q	RP13-131K19.2_ENST00000452042.1_RNA|P4HTM_ENST00000609406.1_3'UTR|P4HTM_ENST00000343546.4_Missense_Mutation_p.E115Q	NM_177939.2	NP_808808.1	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	115						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	CACCCGGCTGGAGGGCATCAA	0.741																																						ENST00000343546.4																			0				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(343-345)Gag>Cag		prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	Vitamin C(DB00126)						6.0	6.0	6.0					3																	49028032		2091	4151	6242	SO:0001583	missense	54681					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr3:49028032G>C		CCDS2781.2, CCDS43089.1	3p21.31	2009-01-14			ENSG00000178467	ENSG00000178467			28858	protein-coding gene	gene with protein product	"""Prolyl hydroxlase domain-containing 4"", ""hypoxia inducible factor prolyl 4 hydroxylase"""	614584				12163023, 17726031	Standard	XR_245139		Approved	P4H-TM, PHD4, PH4, HIFPH4, FLJ20262, EGLN4, PH-4	uc003cvh.3	Q9NXG6	OTTHUMG00000074057	ENST00000383729.4:c.343G>C	3.37:g.49028032G>C	ENSP00000373235:p.Glu115Gln					P4HTM_ENST00000383729.4_Missense_Mutation_p.E115Q	p.E115Q	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN			1	711	+			115					Q6PAG6|Q8TCJ9|Q8WV55|Q96F22|Q9BW77	Missense_Mutation	SNP	ENST00000383729.4	37	c.343G>C	CCDS43089.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.6|21.6	4.170608|4.170608	0.78452|0.78452	.|.	.|.	ENSG00000178467|ENSG00000178467	ENST00000383729;ENST00000343546|ENST00000444213	T|.	0.79454|.	-1.27|.	4.18|4.18	3.29|3.29	0.37713|0.37713	.|.	0.063971|.	0.64402|.	D|.	0.000009|.	T|T	0.57755|0.57755	0.2075|0.2075	L|L	0.43152|0.43152	1.355|1.355	0.42169|0.42169	D|D	0.99163|0.99163	D;D|.	0.89917|.	0.998;1.0|.	D;D|.	0.83275|.	0.994;0.996|.	T|T	0.53358|0.53358	-0.8450|-0.8450	10|5	0.37606|.	T|.	0.19|.	-23.7519|-23.7519	13.1555|13.1555	0.59514|0.59514	0.0:0.0:0.8388:0.1612|0.0:0.0:0.8388:0.1612	.|.	115;115|.	Q9NXG6-3;Q9NXG6|.	.;P4HTM_HUMAN|.	Q|A	115|66	ENSP00000373235:E115Q|.	ENSP00000341422:E115Q|.	E|G	+|+	1|2	0|0	P4HTM|P4HTM	49003036|49003036	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.886000|0.886000	0.51366|0.51366	3.809000|3.809000	0.55606|0.55606	0.722000|0.722000	0.32252|0.32252	0.462000|0.462000	0.41574|0.41574	GAG|GGA		0.741	P4HTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157211.1	NM_177938		5	10	0	0	0	1	0	5	10				
SEMA4D	10507	broad.mit.edu	37	9	91993762	91993762	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr9:91993762C>A	ENST00000450295.1	-	16	3222	c.2446G>T	c.(2446-2448)Gag>Tag	p.E816*	SEMA4D_ENST00000420987.1_Intron|SEMA4D_ENST00000422704.2_Nonsense_Mutation_p.E816*|SEMA4D_ENST00000438547.2_Nonsense_Mutation_p.E816*|SEMA4D_ENST00000356444.2_Nonsense_Mutation_p.E816*|SEMA4D_ENST00000339861.4_Intron|SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000455551.2_Intron			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	816					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|immune response (GO:0006955)|leukocyte aggregation (GO:0070486)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ossification involved in bone maturation (GO:0043931)|positive regulation of cell migration (GO:0030335)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)|regulation of dendrite morphogenesis (GO:0048814)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						TGCTCGGTCTCATAGCCGGTG	0.587																																						ENST00000450295.1																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						c.(2446-2448)Gag>Tag		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D							118.0	102.0	107.0					9																	91993762		2203	4300	6503	SO:0001587	stop_gained	10507				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding	g.chr9:91993762C>A	U60800	CCDS6685.1, CCDS47991.1	9q22-q31	2013-01-11			ENSG00000187764	ENSG00000187764		"""Semaphorins"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10732	protein-coding gene	gene with protein product	"""M-sema G"""	601866	"""chromosome 9 open reading frame 164"""	SEMAJ, C9orf164		8876214, 8969198	Standard	NM_006378		Approved	CD100, coll-4, FLJ39737	uc004aqo.1	Q92854	OTTHUMG00000020185	ENST00000450295.1:c.2446G>T	9.37:g.91993762C>A	ENSP00000416523:p.Glu816*					SEMA4D_ENST00000438547.2_Nonsense_Mutation_p.E816*|SEMA4D_ENST00000356444.2_Nonsense_Mutation_p.E816*|SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000339861.4_Intron|SEMA4D_ENST00000422704.2_Nonsense_Mutation_p.E816*|SEMA4D_ENST00000455551.2_Intron|SEMA4D_ENST00000420987.1_Intron	p.E816*			Q92854	SEM4D_HUMAN			16	3222	-			816					B2RPM6|Q7Z5S4|Q8N8B0	Nonsense_Mutation	SNP	ENST00000450295.1	37	c.2446G>T	CCDS6685.1	.	.	.	.	.	.	.	.	.	.	C	44	11.202389	0.99530	.	.	ENSG00000187764	ENST00000450295;ENST00000438547;ENST00000356444;ENST00000422704	.	.	.	4.65	4.65	0.58169	.	0.527816	0.19145	N	0.121586	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.1005	0.89504	0.0:1.0:0.0:0.0	.	.	.	.	X	816	.	ENSP00000348822:E816X	E	-	1	0	SEMA4D	91183582	1.000000	0.71417	0.996000	0.52242	0.242000	0.25591	6.976000	0.76135	2.591000	0.87537	0.462000	0.41574	GAG		0.587	SEMA4D-018	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342411.1	NM_006378		14	63	1	0	2.32078e-09	1	2.42854e-09	14	63				
GRID2	2895	broad.mit.edu	37	4	94376877	94376877	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr4:94376877C>T	ENST00000282020.4	+	11	1868	c.1610C>T	c.(1609-1611)aCg>aTg	p.T537M	GRID2_ENST00000510992.1_Missense_Mutation_p.T442M	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	537					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)	p.T537M(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		GTGGACTTTACGACACGTTAC	0.433																																						ENST00000282020.4																			2	Substitution - Missense(2)	p.T537M(2)	prostate(1)|kidney(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(1609-1611)aCg>aTg		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						145.0	132.0	136.0					4																	94376877		2203	4300	6503	SO:0001583	missense	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94376877C>T	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.1610C>T	4.37:g.94376877C>T	ENSP00000282020:p.Thr537Met					GRID2_ENST00000510992.1_Missense_Mutation_p.T442M	p.T537M	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	11	1868	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	537					E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.1610C>T	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.944581	0.92593	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.16457	2.34;2.34	5.97	5.97	0.96955	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.55561	0.1928	M	0.93062	3.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.64334	-0.6432	10	0.87932	D	0	.	20.4388	0.99107	0.0:1.0:0.0:0.0	.	442;537	E9PH24;O43424	.;GRID2_HUMAN	M	537;442	ENSP00000282020:T537M;ENSP00000421257:T442M	ENSP00000282020:T537M	T	+	2	0	GRID2	94595900	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	4.947000	0.63583	2.836000	0.97738	0.655000	0.94253	ACG		0.433	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			24	97	0	0	0	1	0	24	97				
USP33	23032	broad.mit.edu	37	1	78183639	78183639	+	Missense_Mutation	SNP	G	G	C	rs367803837		TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr1:78183639G>C	ENST00000370793.1	-	18	2270	c.1924C>G	c.(1924-1926)Ctt>Gtt	p.L642V	USP33_ENST00000370792.3_Missense_Mutation_p.L634V|USP33_ENST00000357428.1_Missense_Mutation_p.L642V|USP33_ENST00000370794.3_Missense_Mutation_p.L611V	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	642	USP.				axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						AATGGCTGAAGATCCAAGCCT	0.378																																					Melanoma(152;72 1870 11110 26780 42647)	ENST00000370793.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						c.(1924-1926)Ctt>Gtt		ubiquitin specific peptidase 33							127.0	132.0	130.0					1																	78183639		2203	4300	6503	SO:0001583	missense	23032				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr1:78183639G>C	AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"""Ubiquitin-specific peptidases"""	20059	protein-coding gene	gene with protein product		615146	"""ubiquitin specific protease 33"""			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.1924C>G	1.37:g.78183639G>C	ENSP00000359829:p.Leu642Val					USP33_ENST00000370794.3_Missense_Mutation_p.L611V|USP33_ENST00000370792.3_Missense_Mutation_p.L634V|USP33_ENST00000357428.1_Missense_Mutation_p.L642V	p.L642V	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN			18	2270	-			642					Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Missense_Mutation	SNP	ENST00000370793.1	37	c.1924C>G	CCDS678.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.32|18.32	3.598145|3.598145	0.66332|0.66332	.|.	.|.	ENSG00000077254|ENSG00000077254	ENST00000481579|ENST00000370794;ENST00000370793;ENST00000357428;ENST00000370792	.|T;T;T;T	.|0.37411	.|3.82;1.2;1.2;3.82	4.7|4.7	4.7|4.7	0.59300|0.59300	.|Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	.|0.061994	.|0.64402	.|D	.|0.000004	T|T	0.48572|0.48572	0.1507|0.1507	M|M	0.62088|0.62088	1.915|1.915	0.47511|0.47511	D|D	0.999449|0.999449	.|D;D;D	.|0.55385	.|0.964;0.964;0.971	.|P;P;P	.|0.62298	.|0.839;0.839;0.9	T|T	0.53070|0.53070	-0.8490|-0.8490	5|10	.|0.72032	.|D	.|0.01	.|.	18.0321|18.0321	0.89288|0.89288	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|634;611;642	.|Q8TEY7-3;Q8TEY7-2;Q8TEY7	.|.;.;UBP33_HUMAN	M|V	246|611;642;642;634	.|ENSP00000359830:L611V;ENSP00000359829:L642V;ENSP00000350009:L642V;ENSP00000359828:L634V	.|ENSP00000350009:L642V	I|L	-|-	3|1	3|0	USP33|USP33	77956227|77956227	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.952000|0.952000	0.60782|0.60782	3.542000|3.542000	0.53625|0.53625	2.347000|2.347000	0.79759|0.79759	0.563000|0.563000	0.77884|0.77884	ATC|CTT		0.378	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026923.2	NM_015017		44	112	0	0	0	1	0	44	112				
GPR135	64582	broad.mit.edu	37	14	59931024	59931024	+	Silent	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr14:59931024C>T	ENST00000395116.1	-	1	1036	c.921G>A	c.(919-921)tcG>tcA	p.S307S		NM_022571.5	NP_072093.2	Q8IZ08	GP135_HUMAN	G protein-coupled receptor 135	307						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.134)		CGCGCACGTCCGACAGGCGCA	0.657																																						ENST00000395116.1																			0				breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(919-921)tcG>tcA		G protein-coupled receptor 135							22.0	21.0	21.0					14																	59931024		2195	4287	6482	SO:0001819	synonymous_variant	64582					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr14:59931024C>T	AY288418	CCDS9738.1	14q23.1	2012-08-21			ENSG00000181619	ENSG00000181619		"""GPCR / Class A : Orphans"""	19991	protein-coding gene	gene with protein product		607970				14623098	Standard	NM_022571		Approved	HUMNPIIY20, PAFR	uc010apj.3	Q8IZ08	OTTHUMG00000140325	ENST00000395116.1:c.921G>A	14.37:g.59931024C>T							p.S307S	NM_022571.5	NP_072093.2	Q8IZ08	GP135_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.134)	1	1036	-			307					Q7Z604|Q86SM3|Q8NH39	Silent	SNP	ENST00000395116.1	37	c.921G>A	CCDS9738.1																																																																																				0.657	GPR135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276941.1	NM_022571		6	23	0	0	0	1	0	6	23				
TBC1D10A	83874	broad.mit.edu	37	22	30722669	30722669	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr22:30722669C>G	ENST00000215790.7	-	1	366	c.202G>C	c.(202-204)Gag>Cag	p.E68Q	TBC1D10A_ENST00000490449.1_5'UTR|TBC1D10A_ENST00000403477.3_Missense_Mutation_p.E68Q	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	68					activation of cysteine-type endopeptidase activity (GO:0097202)|positive regulation of proteolysis (GO:0045862)|retrograde transport, endosome to Golgi (GO:0042147)	extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rab GTPase activator activity (GO:0005097)	p.E68K(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CACGCGCCCTCGGCGCCCTGC	0.716																																						ENST00000215790.7																			1	Substitution - Missense(1)	p.E68K(1)	urinary_tract(1)	cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(202-204)Gag>Cag		TBC1 domain family, member 10A							15.0	19.0	18.0					22																	30722669		2192	4270	6462	SO:0001583	missense	83874					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity	g.chr22:30722669C>G	AF331038	CCDS13874.1, CCDS56227.1	22q12.2	2013-07-09	2005-03-10	2005-03-10	ENSG00000099992	ENSG00000099992			23609	protein-coding gene	gene with protein product	"""EBP50-PDZ interactor of 64 kD"""	610020	"""TBC1 domain family, member 10"""	TBC1D10		11285285, 20404108	Standard	NM_001204240		Approved	EPI64, AC004997.C22.2	uc010gvu.3	Q9BXI6	OTTHUMG00000150924	ENST00000215790.7:c.202G>C	22.37:g.30722669C>G	ENSP00000215790:p.Glu68Gln					TBC1D10A_ENST00000403477.3_Missense_Mutation_p.E68Q|TBC1D10A_ENST00000490449.1_5'UTR	p.E68Q	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN			1	366	-			68					B3KXT8|O76053|Q20WK7|Q543A2	Missense_Mutation	SNP	ENST00000215790.7	37	c.202G>C	CCDS13874.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.883001	0.33255	.	.	ENSG00000099992	ENST00000215790;ENST00000403477	T;T	0.18657	2.2;3.41	3.52	2.38	0.29361	.	0.482456	0.19802	N	0.105721	T	0.15739	0.0379	L	0.38175	1.15	0.80722	D	1	B;P;B	0.35684	0.374;0.515;0.374	B;B;B	0.35607	0.206;0.159;0.206	T	0.07868	-1.0750	10	0.27785	T	0.31	.	11.0743	0.48021	0.0:0.7145:0.2855:0.0	.	68;68;68	Q20WK7;B3KXT8;Q9BXI6	.;.;TB10A_HUMAN	Q	68	ENSP00000215790:E68Q;ENSP00000384996:E68Q	ENSP00000215790:E68Q	E	-	1	0	TBC1D10A	29052669	0.769000	0.28531	1.000000	0.80357	0.972000	0.66771	1.156000	0.31712	1.956000	0.56807	0.430000	0.28490	GAG		0.716	TBC1D10A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320550.1	NM_031937		13	21	0	0	0	1	0	13	21				
GJA3	2700	broad.mit.edu	37	13	20717311	20717311	+	Silent	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr13:20717311G>A	ENST00000241125.3	-	2	293	c.117C>T	c.(115-117)gcC>gcT	p.A39A		NM_021954.3	NP_068773.2	Q9Y6H8	CXA3_HUMAN	gap junction protein, alpha 3, 46kDa	39					cell-cell signaling (GO:0007267)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)			NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)		CCTCCGCCGCGGCCCCCAGCA	0.602																																						ENST00000241125.3																			0				NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						c.(115-117)gcC>gcT		gap junction protein, alpha 3, 46kDa							52.0	45.0	47.0					13																	20717311		2203	4300	6503	SO:0001819	synonymous_variant	2700				cell-cell signaling|visual perception	connexon complex|integral to membrane		g.chr13:20717311G>A	AF075290	CCDS9289.1	13q12.11	2008-02-05	2007-01-16		ENSG00000121743	ENSG00000121743		"""Ion channels / Gap junction proteins (connexins)"""	4277	protein-coding gene	gene with protein product	"""connexin 46"""	121015	"""gap junction protein, alpha 3, 46kD (connexin 46)"", ""gap junction protein, alpha 3, 46kDa (connexin 46)"""	CZP3		10205266, 7342922	Standard	NM_021954		Approved	CX46	uc001umx.1	Q9Y6H8	OTTHUMG00000016510	ENST00000241125.3:c.117C>T	13.37:g.20717311G>A							p.A39A	NM_021954.3	NP_068773.2	Q9Y6H8	CXA3_HUMAN		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)	2	293	-		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)	39					Q0VAB7|Q9H537	Silent	SNP	ENST00000241125.3	37	c.117C>T	CCDS9289.1																																																																																				0.602	GJA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044059.3	NM_021954		7	17	0	0	0	1	0	7	17				
DGCR5	26220	broad.mit.edu	37	22	18979447	18979447	+	RNA	SNP	G	G	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr22:18979447G>T	ENST00000421572.1	+	0	1136				DGCR5_ENST00000440005.2_RNA|DGCR5_ENST00000537283.1_RNA|DGCR5_ENST00000438934.1_RNA					DiGeorge syndrome critical region gene 5 (non-protein coding)																		CCCTGCTGGAGATGGAGAAGC	0.567																																						ENST00000438934.1																			0																																																			26220							g.chr22:18979447G>T	X91348		22q11	2012-10-16	2008-08-13		ENSG00000237517	ENSG00000237517		"""Long non-coding RNAs"""	16757	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 37"", ""long intergenic non-protein coding RNA 37"""					8659529	Standard	NR_002733		Approved	NCRNA00037, LINC00037	uc021wku.1		OTTHUMG00000149977		22.37:g.18979447G>T						DGCR5_ENST00000440005.2_RNA								0	2798	+									RNA	SNP	ENST00000421572.1	37																																																																																						0.567	DGCR5-004	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000316630.1	NR_002733		15	23	1	0	2.31682e-05	1	2.37353e-05	15	23				
ZPBP	11055	broad.mit.edu	37	7	50121408	50121408	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr7:50121408G>A	ENST00000046087.2	-	3	365	c.296C>T	c.(295-297)tCa>tTa	p.S99L	ZPBP_ENST00000419417.1_Missense_Mutation_p.S99L	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	99					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					CCATTGGAATGATGGGTCTAT	0.358																																						ENST00000046087.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29						c.(295-297)tCa>tTa		zona pellucida binding protein							129.0	121.0	124.0					7																	50121408		2203	4300	6503	SO:0001583	missense	11055				binding of sperm to zona pellucida	extracellular region		g.chr7:50121408G>A	D17570	CCDS5509.1, CCDS55110.1	7p14.3	2013-01-11			ENSG00000042813	ENSG00000042813		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15662	protein-coding gene	gene with protein product		608498				9378618	Standard	NM_007009		Approved	SP38, ZPBP1	uc003tou.3	Q9BS86	OTTHUMG00000023528	ENST00000046087.2:c.296C>T	7.37:g.50121408G>A	ENSP00000046087:p.Ser99Leu					ZPBP_ENST00000419417.1_Missense_Mutation_p.S99L	p.S99L	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN			3	365	-	Glioma(55;0.08)|all_neural(89;0.245)		99					A4D253|C9JPU1|Q15941|Q75KX9|Q75MI3	Missense_Mutation	SNP	ENST00000046087.2	37	c.296C>T	CCDS5509.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.494633	0.26774	.	.	ENSG00000042813	ENST00000046087;ENST00000419417;ENST00000450231	T;T;T	0.77358	-1.09;-1.09;0.71	5.1	2.26	0.28386	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.602259	0.13440	N	0.387786	T	0.62024	0.2394	L	0.31294	0.92	0.24522	N	0.994159	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.46289	-0.9202	9	.	.	.	-3.558	6.5868	0.22624	0.3362:0.0:0.6638:0.0	.	99;99	C9JPU1;Q9BS86	.;ZPBP1_HUMAN	L	99;99;60	ENSP00000046087:S99L;ENSP00000402071:S99L;ENSP00000390054:S60L	.	S	-	2	0	ZPBP	50091954	0.873000	0.30073	0.994000	0.49952	0.840000	0.47671	2.408000	0.44574	1.147000	0.42369	0.460000	0.39030	TCA		0.358	ZPBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251374.1	NM_007009		17	66	0	0	0	1	0	17	66				
CFAP54	144535	broad.mit.edu	37	12	97112235	97112235	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr12:97112235G>T	ENST00000524981.4	+	49	6762	c.6739G>T	c.(6739-6741)Gat>Tat	p.D2247Y				Q96N23	CL055_HUMAN		0																	ATATTCAAAGGATGATGGAAG	0.264																																						ENST00000524981.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						c.(2092-2094)Gat>Tat									64.0	68.0	67.0					12																	97112235		2201	4296	6497	SO:0001583	missense	144535							g.chr12:97112235G>T																												ENST00000524981.4:c.6739G>T	12.37:g.97112235G>T	ENSP00000431759:p.Asp2247Tyr						p.D698Y			Q6ZTY8	CL063_HUMAN			16	2092	+			672						Missense_Mutation	SNP	ENST00000524981.4	37	c.2092G>T		.	.	.	.	.	.	.	.	.	.	G	16.91	3.253651	0.59212	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	4.5	4.5	0.54988	.	0.522012	0.18563	N	0.137558	T	0.71031	0.3292	.	.	.	0.34049	D	0.655902	D	0.71674	0.998	P	0.61003	0.882	T	0.80957	-0.1150	8	0.87932	D	0	-2.3634	13.0328	0.58851	0.0:0.0:1.0:0.0	.	672	Q6ZTY8	CL063_HUMAN	Y	2247;672	.	ENSP00000345466:D672Y	D	+	1	0	C12orf63	95636366	0.992000	0.36948	0.321000	0.25320	0.185000	0.23345	2.830000	0.48136	2.204000	0.70986	0.313000	0.20887	GAT		0.264	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4			23	85	1	0	2.21704e-12	1	2.33666e-12	23	85				
SPTBN2	6712	broad.mit.edu	37	11	66455760	66455760	+	Missense_Mutation	SNP	C	C	T	rs143781509		TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr11:66455760C>T	ENST00000533211.1	-	32	6585	c.6254G>A	c.(6253-6255)cGa>cAa	p.R2085Q	SPTBN2_ENST00000309996.2_Missense_Mutation_p.R2085Q|SPTBN2_ENST00000529997.1_Missense_Mutation_p.R2085Q			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	2085					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						ctttctctttcgctccttctc	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		17808	0.0		0.001	False		,,,				2504	0.0					ENST00000533211.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						c.(6253-6255)cGa>cAa		spectrin, beta, non-erythrocytic 2							21.0	21.0	21.0					11																	66455760		2197	4291	6488	SO:0001583	missense	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66455760C>T	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.6254G>A	11.37:g.66455760C>T	ENSP00000432568:p.Arg2085Gln					SPTBN2_ENST00000309996.2_Missense_Mutation_p.R2085Q|SPTBN2_ENST00000529997.1_Missense_Mutation_p.R2085Q	p.R2085Q			O15020	SPTN2_HUMAN			32	6585	-			2085					O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.6254G>A	CCDS8150.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	6.287	0.421075	0.11928	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997;ENST00000443262	T;T;T	0.70516	-0.48;-0.48;-0.49	5.11	0.758	0.18432	.	1.031610	0.07693	N	0.938989	T	0.55577	0.1929	L	0.45581	1.43	0.26954	N	0.965959	B	0.24368	0.102	B	0.14578	0.011	T	0.35176	-0.9799	10	0.09338	T	0.73	.	4.2816	0.10836	0.0:0.5287:0.1669:0.3045	.	2085	O15020	SPTN2_HUMAN	Q	2085;2085;2085;629	ENSP00000432568:R2085Q;ENSP00000311489:R2085Q;ENSP00000433593:R2085Q	ENSP00000311489:R2085Q	R	-	2	0	SPTBN2	66212336	0.000000	0.05858	0.889000	0.34880	0.220000	0.24768	-0.954000	0.03873	0.184000	0.20083	-0.345000	0.07892	CGA		0.592	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		7	13	0	0	0	1	0	7	13				
C2orf71	388939	broad.mit.edu	37	2	29296368	29296368	+	Missense_Mutation	SNP	G	G	A	rs192023448		TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr2:29296368G>A	ENST00000331664.5	-	1	759	c.760C>T	c.(760-762)Cct>Tct	p.P254S		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	254					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TTCTTCAAAGGCCAAGCCAGA	0.552																																						ENST00000331664.5																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						c.(760-762)Cct>Tct		chromosome 2 open reading frame 71							69.0	71.0	70.0					2																	29296368		2002	4180	6182	SO:0001583	missense	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29296368G>A		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.760C>T	2.37:g.29296368G>A	ENSP00000332809:p.Pro254Ser						p.P254S	NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN			1	759	-			254						Missense_Mutation	SNP	ENST00000331664.5	37	c.760C>T	CCDS42669.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.796571	0.70567	.	.	ENSG00000179270	ENST00000331664	T	0.55413	0.52	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.73040	0.3536	M	0.70275	2.135	0.47819	D	0.999529	D	0.76494	0.999	D	0.71414	0.973	T	0.75119	-0.3430	10	0.87932	D	0	-20.0418	19.6596	0.95859	0.0:0.0:1.0:0.0	.	254	A6NGG8	CB071_HUMAN	S	254	ENSP00000332809:P254S	ENSP00000332809:P254S	P	-	1	0	C2orf71	29149872	1.000000	0.71417	0.996000	0.52242	0.733000	0.41908	7.535000	0.82014	2.648000	0.89879	0.561000	0.74099	CCT		0.552	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		29	103	0	0	0	1	0	29	103				
OR5C1	392391	broad.mit.edu	37	9	125551281	125551281	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr9:125551281C>G	ENST00000373680.2	+	1	132	c.70C>G	c.(70-72)Cgc>Ggc	p.R24G		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	24						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R24C(1)		NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						CATCACAAATCGCTGGGACCT	0.602																																						ENST00000373680.2																			1	Substitution - Missense(1)	p.R24C(1)	endometrium(1)	NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						c.(70-72)Cgc>Ggc		olfactory receptor, family 5, subfamily C, member 1							93.0	88.0	90.0					9																	125551281		2203	4300	6503	SO:0001583	missense	392391				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125551281C>G	AF399514	CCDS35131.1	9q34.2	2012-08-09			ENSG00000148215	ENSG00000148215		"""GPCR / Class A : Olfactory receptors"""	8331	protein-coding gene	gene with protein product				OR5C2P			Standard	NM_001001923		Approved	OR9-F, hRPK-465_F_21	uc011lzd.2	Q8NGR4	OTTHUMG00000020622	ENST00000373680.2:c.70C>G	9.37:g.125551281C>G	ENSP00000362784:p.Arg24Gly						p.R24G	NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN			1	132	+			24					B2RN54|B9EGT0|Q96RC4	Missense_Mutation	SNP	ENST00000373680.2	37	c.70C>G	CCDS35131.1	.	.	.	.	.	.	.	.	.	.	C	5.454	0.268931	0.10349	.	.	ENSG00000148215	ENST00000373680	T	0.01068	5.38	5.29	2.41	0.29592	.	0.000000	0.37053	U	0.002261	T	0.00724	0.0024	N	0.20483	0.58	0.09310	N	1	P	0.39964	0.697	B	0.31337	0.128	T	0.54689	-0.8256	10	0.30854	T	0.27	.	5.6104	0.17402	0.1369:0.6356:0.0:0.2274	.	24	Q8NGR4	OR5C1_HUMAN	G	24	ENSP00000362784:R24G	ENSP00000362784:R24G	R	+	1	0	OR5C1	124591102	0.000000	0.05858	0.451000	0.26982	0.159000	0.22180	0.159000	0.16442	0.805000	0.34159	0.650000	0.86243	CGC		0.602	OR5C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053953.1			25	74	0	0	0	1	0	25	74				
ATXN7L2	127002	broad.mit.edu	37	1	110034336	110034336	+	Silent	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr1:110034336G>A	ENST00000369870.3	+	10	2166	c.2151G>A	c.(2149-2151)ctG>ctA	p.L717L	CYB561D1_ENST00000527072.1_5'Flank|CYB561D1_ENST00000393709.3_5'Flank|CYB561D1_ENST00000369868.3_5'Flank|CYB561D1_ENST00000430195.2_5'Flank|CYB561D1_ENST00000528785.1_5'Flank|CYB561D1_ENST00000420578.2_5'Flank|CYB561D1_ENST00000533024.1_5'Flank|ATXN7L2_ENST00000459635.1_3'UTR|CYB561D1_ENST00000310611.4_5'Flank|CYB561D1_ENST00000496961.1_5'Flank	NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	717										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		GCTCTACACTGAAGGTACCAG	0.592																																						ENST00000369870.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17						c.(2149-2151)ctG>ctA		ataxin 7-like 2							12.0	12.0	12.0					1																	110034336		2189	4270	6459	SO:0001819	synonymous_variant	127002							g.chr1:110034336G>A	BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650			28713	protein-coding gene	gene with protein product						12477932	Standard	NM_153340		Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.2151G>A	1.37:g.110034336G>A						ATXN7L2_ENST00000459635.1_3'UTR	p.L717L	NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)	10	2166	+		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)	717						Silent	SNP	ENST00000369870.3	37	c.2151G>A	CCDS30794.1																																																																																				0.592	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030331.1	NM_153340		3	17	0	0	0	1	0	3	17				
PHF20	51230	broad.mit.edu	37	20	34505468	34505468	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr20:34505468C>T	ENST00000374012.3	+	13	2017	c.1888C>T	c.(1888-1890)Caa>Taa	p.Q630*	PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	630					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					TGAGTATGGCCAAGATGTGGA	0.478																																						ENST00000374012.3																			0				breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1888-1890)Caa>Taa		PHD finger protein 20							135.0	104.0	114.0					20																	34505468		2203	4300	6503	SO:0001587	stop_gained	51230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding	g.chr20:34505468C>T	AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	16098	protein-coding gene	gene with protein product	"""tudor domain containing 20A"""	610335	"""chromosome 20 open reading frame 104"""	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.1888C>T	20.37:g.34505468C>T	ENSP00000363124:p.Gln630*					PHF20_ENST00000439301.1_3'UTR	p.Q630*			Q9BVI0	PHF20_HUMAN			13	2017	+	Breast(12;0.00631)|all_lung(11;0.0145)		630					A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Nonsense_Mutation	SNP	ENST00000374012.3	37	c.1888C>T	CCDS13268.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.213830	0.79352	.	.	ENSG00000025293	ENST00000374012;ENST00000420233	.	.	.	5.96	5.96	0.96718	.	0.341183	0.34676	N	0.003774	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	15.4747	0.75468	0.0:0.8618:0.1381:0.0	.	.	.	.	X	630;27	.	ENSP00000363124:Q630X	Q	+	1	0	PHF20	33968882	0.998000	0.40836	0.923000	0.36655	0.708000	0.40852	3.142000	0.50601	2.830000	0.97506	0.585000	0.79938	CAA		0.478	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078949.2	NM_016436		5	21	0	0	0	1	0	5	21				
GLOD4	51031	broad.mit.edu	37	17	685847	685847	+	5'Flank	SNP	G	G	C			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr17:685847G>C	ENST00000301328.5	-	0	0				RNMTL1_ENST00000304478.4_Missense_Mutation_p.E77Q|GLOD4_ENST00000301329.6_5'Flank|GLOD4_ENST00000536578.1_5'Flank			Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4							extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		ACAACCGCTCGAGGAGTCCGC	0.617																																						ENST00000304478.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(229-231)Gag>Cag		RNA methyltransferase like 1							32.0	31.0	32.0					17																	685847		2203	4299	6502	SO:0001631	upstream_gene_variant	55178				RNA processing		protein binding|RNA binding|RNA methyltransferase activity	g.chr17:685847G>C	AF177342	CCDS32520.1	17p13.3	2008-02-05	2007-03-14	2007-03-14		ENSG00000167699			14111	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 25"""	C17orf25		11642406, 12528892	Standard	NM_016080		Approved	CGI-150, HC71	uc002fru.3	Q9HC38			17.37:g.685847G>C	Exception_encountered						p.E77Q	NM_018146.2	NP_060616.1	Q9HC36	RMTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)	1	335	+			77					D3DTG9|D3DTH1|Q96B89|Q9H3J8|Q9HC37|Q9NVN1	Missense_Mutation	SNP	ENST00000301328.5	37	c.229G>C		.	.	.	.	.	.	.	.	.	.	G	0.871	-0.731931	0.03135	.	.	ENSG00000171861	ENST00000304478	T	0.18502	2.21	5.06	-1.28	0.09318	.	1.357660	0.04457	N	0.373718	T	0.10766	0.0263	N	0.22421	0.69	0.09310	N	1	B	0.15719	0.014	B	0.10450	0.005	T	0.34153	-0.9840	10	0.12766	T	0.61	-0.1977	7.4785	0.27391	0.4023:0.2953:0.3024:0.0	.	77	Q9HC36	RMTL1_HUMAN	Q	77	ENSP00000306080:E77Q	ENSP00000306080:E77Q	E	+	1	0	RNMTL1	632597	0.029000	0.19370	0.000000	0.03702	0.002000	0.02628	0.729000	0.26028	-0.026000	0.13895	-0.344000	0.07964	GAG		0.617	GLOD4-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000437190.1	NM_016080		9	30	0	0	0	1	0	9	30				
SPINK1	6690	broad.mit.edu	37	5	147207656	147207656	+	Silent	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr5:147207656C>T	ENST00000296695.5	-	3	331	c.123G>A	c.(121-123)aaG>aaA	p.K41K	SPINK1_ENST00000510027.2_Silent_p.K41K	NM_003122.3	NP_003113.2	P00995	ISK1_HUMAN	serine peptidase inhibitor, Kazal type 1	41	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.	Reactive bond.			negative regulation of calcium ion import (GO:0090281)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of serine-type endopeptidase activity (GO:1900004)|regulation of acrosome reaction (GO:0060046)|regulation of store-operated calcium entry (GO:2001256)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTCATATATCTTGGTGCATC	0.343									Hereditary Pancreatitis																													ENST00000510027.2																			0				endometrium(1)|skin(1)	2						c.(121-123)aaG>aaA		serine peptidase inhibitor, Kazal type 1							122.0	114.0	117.0					5																	147207656		2203	4300	6503	SO:0001819	synonymous_variant	6690	Hereditary Pancreatitis	Familial Cancer Database			extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr5:147207656C>T		CCDS4286.1	5q32	2011-08-31	2005-08-17		ENSG00000164266	ENSG00000164266		"""Serine peptidase inhibitors, Kazal type"""	11244	protein-coding gene	gene with protein product		167790	"""serine protease inhibitor, Kazal type 1"""				Standard	XM_005268501		Approved	Spink3, PCTT, PSTI, TATI	uc003los.2	P00995	OTTHUMG00000129730	ENST00000296695.5:c.123G>A	5.37:g.147207656C>T						SPINK1_ENST00000296695.5_Silent_p.K41K	p.K41K			P00995	ISK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	180	-			41			Kazal-like.	Reactive bond.		Silent	SNP	ENST00000296695.5	37	c.123G>A	CCDS4286.1																																																																																				0.343	SPINK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251940.2	NM_003122		7	71	0	0	0	1	0	7	71				
PACSIN2	11252	broad.mit.edu	37	22	43272156	43272156	+	Silent	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr22:43272156C>T	ENST00000263246.3	-	10	1536	c.1335G>A	c.(1333-1335)ctG>ctA	p.L445L	PACSIN2_ENST00000337959.4_Silent_p.L404L|PACSIN2_ENST00000403744.3_Silent_p.L445L|PACSIN2_ENST00000407585.1_Silent_p.L404L|PACSIN2_ENST00000402229.1_Silent_p.L445L	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in neurons 2	445	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin cytoskeleton organization (GO:0030036)|caveola assembly (GO:0070836)|caveolin-mediated endocytosis (GO:0072584)|cell projection morphogenesis (GO:0048858)|membrane tubulation (GO:0097320)|negative regulation of endocytosis (GO:0045806)|protein localization to endosome (GO:0036010)	caveola (GO:0005901)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				CCTTGAAGCTCAGCTCATCAT	0.582																																						ENST00000263246.3																			0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19						c.(1333-1335)ctG>ctA		protein kinase C and casein kinase substrate in neurons 2							53.0	58.0	57.0					22																	43272156		2019	4167	6186	SO:0001819	synonymous_variant	11252				actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity	g.chr22:43272156C>T	AF128536	CCDS43023.1, CCDS54536.1	22q13.2-q13.33	2009-05-08			ENSG00000100266	ENSG00000100266			8571	protein-coding gene	gene with protein product	"""syndapin II"""	604960				10431838, 11082044	Standard	NM_007229		Approved	SDPII	uc003bdg.4	Q9UNF0	OTTHUMG00000150701	ENST00000263246.3:c.1335G>A	22.37:g.43272156C>T						PACSIN2_ENST00000407585.1_Silent_p.L404L|PACSIN2_ENST00000402229.1_Silent_p.L445L|PACSIN2_ENST00000337959.4_Silent_p.L404L|PACSIN2_ENST00000496919.1_5'UTR|PACSIN2_ENST00000403744.3_Silent_p.L445L	p.L445L	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN			10	1536	-		Glioma(61;0.222)	445			SH3.		O95921|Q96HV9|Q9H0D3|Q9NPN1|Q9Y4V2	Silent	SNP	ENST00000263246.3	37	c.1335G>A	CCDS43023.1																																																																																				0.582	PACSIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319665.1	NM_007229		11	41	0	0	0	1	0	11	41				
PRPF3	9129	broad.mit.edu	37	1	150300866	150300866	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr1:150300866G>A	ENST00000324862.6	+	4	529	c.364G>A	c.(364-366)Gag>Aag	p.E122K	PRPF3_ENST00000414970.2_Intron|PRPF3_ENST00000467329.1_3'UTR|PRPF3_ENST00000543398.1_5'UTR	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	122					mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 x U5 tri-snRNP complex (GO:0046540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		GGTGGAAGAAGAGCCAGAGGT	0.498																																					Ovarian(168;1070 2670 5178 20729)	ENST00000324862.6																			0				breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(364-366)Gag>Aag		pre-mRNA processing factor 3							128.0	135.0	133.0					1																	150300866		2203	4300	6503	SO:0001583	missense	9129				nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding	g.chr1:150300866G>A	AF001947	CCDS951.1	1q21.1	2013-07-16	2013-06-10		ENSG00000117360	ENSG00000117360			17348	protein-coding gene	gene with protein product		607301	"""retinitis pigmentosa 18 (autosomal dominant)"", ""PRP3 pre-mRNA processing factor 3 homolog (yeast)"", ""PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)"""	RP18			Standard	NM_004698		Approved	Prp3, hPrp3, SNRNP90	uc001eum.4	O43395	OTTHUMG00000012807	ENST00000324862.6:c.364G>A	1.37:g.150300866G>A	ENSP00000315379:p.Glu122Lys					PRPF3_ENST00000543398.1_5'UTR|PRPF3_ENST00000467329.1_3'UTR|PRPF3_ENST00000414970.2_Intron	p.E122K	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)	4	529	+	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		122					B4DSY9|O43446|Q5VT54	Missense_Mutation	SNP	ENST00000324862.6	37	c.364G>A	CCDS951.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.173242	0.57584	.	.	ENSG00000117360	ENST00000324862	T	0.77750	-1.12	5.91	5.91	0.95273	.	0.000000	0.64402	D	0.000007	T	0.57873	0.2083	L	0.38175	1.15	0.80722	D	1	B;B	0.22003	0.063;0.01	B;B	0.19666	0.026;0.009	T	0.58584	-0.7611	10	0.11485	T	0.65	-20.3228	19.8933	0.96939	0.0:0.0:1.0:0.0	.	122;122	B2R791;O43395	.;PRPF3_HUMAN	K	122	ENSP00000315379:E122K	ENSP00000315379:E122K	E	+	1	0	PRPF3	148567490	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.549000	0.82163	2.802000	0.96397	0.655000	0.94253	GAG		0.498	PRPF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035836.1	NM_004698		44	136	0	0	0	1	0	44	136				
KIF1C	10749	broad.mit.edu	37	17	4907160	4907160	+	Silent	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr17:4907160C>T	ENST00000320785.5	+	10	1170	c.813C>T	c.(811-813)atC>atT	p.I271I		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	271	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						GAGCCAACATCAATAAGTCCC	0.532																																					Melanoma(96;1023 1447 10250 19259 33730)	ENST00000320785.5																			0				NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						c.(811-813)atC>atT		kinesin family member 1C							144.0	142.0	143.0					17																	4907160		2203	4300	6503	SO:0001819	synonymous_variant	10749				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity	g.chr17:4907160C>T	U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"""Kinesins"""	6317	protein-coding gene	gene with protein product		603060	"""spastic ataxia 2 (autosomal recessive)"""	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.813C>T	17.37:g.4907160C>T							p.I271I	NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN			10	1170	+			271			Kinesin-motor.		D3DTL6|O75186|Q5U618	Silent	SNP	ENST00000320785.5	37	c.813C>T	CCDS11065.1																																																																																				0.532	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216916.1			22	74	0	0	0	1	0	22	74				
CEL	1056	broad.mit.edu	37	9	135941933	135941933	+	Silent	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr9:135941933G>A	ENST00000372080.4	+	5	580	c.564G>A	c.(562-564)cgG>cgA	p.R188R	CEL_ENST00000351304.7_Silent_p.R185R	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	185					cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		ATGGCCTTCGGGATCAGCACA	0.637																																						ENST00000372080.4																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20						c.(562-564)cgG>cgA		carboxyl ester lipase							81.0	89.0	87.0					9																	135941933		1953	4142	6095	SO:0001819	synonymous_variant	1056				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity	g.chr9:135941933G>A	M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"""bile salt-stimulated lipase"""	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.564G>A	9.37:g.135941933G>A						CEL_ENST00000351304.7_Silent_p.R185R	p.R188R	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)	5	580	+			185					Q16398|Q5T7U7|Q9UCH1|Q9UP41	Silent	SNP	ENST00000372080.4	37	c.564G>A	CCDS43896.1																																																																																				0.637	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054823.1			34	134	0	0	0	1	0	34	134				
ZNF264	9422	broad.mit.edu	37	19	57723159	57723159	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr19:57723159G>C	ENST00000263095.6	+	4	1108	c.694G>C	c.(694-696)Gaa>Caa	p.E232Q	ZNF264_ENST00000536056.1_Missense_Mutation_p.E232Q	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	232					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		TAAGCCCTATGAATGCACAGA	0.423																																						ENST00000263095.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27						c.(694-696)Gaa>Caa		zinc finger protein 264							95.0	96.0	96.0					19																	57723159		2203	4300	6503	SO:0001583	missense	9422				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57723159G>C	AB007872	CCDS33127.1	19q13.4	2013-01-08				ENSG00000083844		"""Zinc fingers, C2H2-type"", ""-"""	13057	protein-coding gene	gene with protein product		604668				9455477	Standard	NM_003417		Approved	KIAA0412	uc002qob.3	O43296		ENST00000263095.6:c.694G>C	19.37:g.57723159G>C	ENSP00000263095:p.Glu232Gln					ZNF264_ENST00000536056.1_Missense_Mutation_p.E232Q	p.E232Q	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)	4	1108	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	232					A8K8Y9|Q9P1V0	Missense_Mutation	SNP	ENST00000263095.6	37	c.694G>C	CCDS33127.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.258593	0.39896	.	.	ENSG00000083844	ENST00000263095;ENST00000536056	T;T	0.20200	2.09;2.09	2.35	2.35	0.29111	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26521	0.0648	N	0.16790	0.44	0.09310	N	1	D	0.76494	0.999	D	0.87578	0.998	T	0.08006	-1.0743	9	0.49607	T	0.09	.	8.2083	0.31469	0.0:0.0:0.7611:0.2389	.	232	O43296	ZN264_HUMAN	Q	232	ENSP00000263095:E232Q;ENSP00000440376:E232Q	ENSP00000263095:E232Q	E	+	1	0	ZNF264	62414971	0.000000	0.05858	0.998000	0.56505	0.990000	0.78478	-0.266000	0.08631	1.644000	0.50603	0.491000	0.48974	GAA		0.423	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465080.1			22	67	0	0	0	1	0	22	67				
CCDC27	148870	broad.mit.edu	37	1	3680321	3680321	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr1:3680321G>A	ENST00000294600.2	+	8	1457	c.1373G>A	c.(1372-1374)cGa>cAa	p.R458Q		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	458								p.R458Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		ACCCAGCTGCGAAAGATCAAT	0.567																																						ENST00000294600.2																			1	Substitution - Missense(1)	p.R458Q(1)	large_intestine(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36						c.(1372-1374)cGa>cAa		coiled-coil domain containing 27							106.0	104.0	104.0					1																	3680321		2203	4300	6503	SO:0001583	missense	148870							g.chr1:3680321G>A		CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.1373G>A	1.37:g.3680321G>A	ENSP00000294600:p.Arg458Gln						p.R458Q	NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)	8	1457	+	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)	458					Q5TBV3|Q96M50	Missense_Mutation	SNP	ENST00000294600.2	37	c.1373G>A	CCDS50.1	.	.	.	.	.	.	.	.	.	.	G	3.034	-0.198923	0.06219	.	.	ENSG00000162592	ENST00000294600	T	0.19394	2.15	4.76	-1.24	0.09435	.	0.819777	0.10648	N	0.650228	T	0.07369	0.0186	N	0.08118	0	0.09310	N	1	B	0.28178	0.202	B	0.23852	0.049	T	0.38564	-0.9655	10	0.07175	T	0.84	-8.0746	6.0813	0.19942	0.2101:0.0:0.6175:0.1724	.	458	Q2M243	CCD27_HUMAN	Q	458	ENSP00000294600:R458Q	ENSP00000294600:R458Q	R	+	2	0	CCDC27	3670181	0.010000	0.17322	0.004000	0.12327	0.006000	0.05464	0.079000	0.14782	-0.158000	0.11040	0.462000	0.41574	CGA		0.567	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1	NM_152492		26	65	0	0	0	1	0	26	65				
ZXDB	158586	broad.mit.edu	37	X	57620700	57620700	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chrX:57620700C>T	ENST00000374888.1	+	1	2432	c.2219C>T	c.(2218-2220)tCg>tTg	p.S740L		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	740					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.S740L(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						CTGACTCCTTCGAGCACCCTT	0.502																																						ENST00000374888.1																			1	Substitution - Missense(1)	p.S740L(1)	endometrium(1)	NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						c.(2218-2220)tCg>tTg		zinc finger, X-linked, duplicated B							138.0	101.0	113.0					X																	57620700		2203	4300	6503	SO:0001583	missense	158586				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chrX:57620700C>T	L14788	CCDS35313.1	Xp11.1	2013-01-08			ENSG00000198455	ENSG00000198455		"""Zinc fingers, C2H2-type"""	13199	protein-coding gene	gene with protein product		300236				8268913	Standard	NM_007157		Approved	ZNF905	uc004dvd.3	P98169	OTTHUMG00000021685	ENST00000374888.1:c.2219C>T	X.37:g.57620700C>T	ENSP00000364023:p.Ser740Leu						p.S740L	NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN			1	2432	+			740					A8K151|Q9UBB3	Missense_Mutation	SNP	ENST00000374888.1	37	c.2219C>T	CCDS35313.1	.	.	.	.	.	.	.	.	.	.	.	17.54	3.415350	0.62511	.	.	ENSG00000198455	ENST00000374888	T	0.09723	2.95	3.91	3.91	0.45181	.	0.258917	0.36338	N	0.002660	T	0.24353	0.0590	L	0.47716	1.5	0.48236	D	0.999612	D	0.76494	0.999	D	0.72625	0.978	T	0.00934	-1.1509	10	0.62326	D	0.03	.	12.7657	0.57391	0.0:1.0:0.0:0.0	.	740	P98169	ZXDB_HUMAN	L	740	ENSP00000364023:S740L	ENSP00000364023:S740L	S	+	2	0	ZXDB	57637425	1.000000	0.71417	0.747000	0.31113	0.932000	0.56968	5.658000	0.68003	1.954000	0.56735	0.529000	0.55759	TCG		0.502	ZXDB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056922.1	NM_007157		24	65	0	0	0	1	0	24	65				
KCNJ8	3764	broad.mit.edu	37	12	21918983	21918983	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr12:21918983C>A	ENST00000240662.2	-	3	1294	c.949G>T	c.(949-951)Gag>Tag	p.E317*	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	KCNJ8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	317					defense response to virus (GO:0051607)|heart development (GO:0007507)|kidney development (GO:0001822)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to pH (GO:0009268)|synaptic transmission (GO:0007268)|vasodilation (GO:0042311)	ATP-sensitive potassium channel complex (GO:0008282)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Gliquidone(DB01251)|Glisoxepide(DB01289)|Glyburide(DB01016)|Levosimendan(DB00922)|Phenformin(DB00914)|Thiamylal(DB01154)|Yohimbine(DB01392)	CATTGGATCTCCTCAGCAATG	0.478																																						ENST00000240662.2																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						c.(949-951)Gag>Tag		potassium inwardly-rectifying channel, subfamily J, member 8	Levosimendan(DB00922)						96.0	84.0	88.0					12																	21918983		2203	4300	6503	SO:0001587	stop_gained	3764					voltage-gated potassium channel complex		g.chr12:21918983C>A	BC000544	CCDS8692.1	12p12.1	2011-07-05			ENSG00000121361	ENSG00000121361		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6269	protein-coding gene	gene with protein product		600935				8595887, 16382105	Standard	NM_004982		Approved	Kir6.1	uc001rff.4	Q15842	OTTHUMG00000169093	ENST00000240662.2:c.949G>T	12.37:g.21918983C>A	ENSP00000240662:p.Glu317*					RP11-59N23.1_ENST00000542489.1_RNA	p.E317*	NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN			3	1294	-			317					O00657	Nonsense_Mutation	SNP	ENST00000240662.2	37	c.949G>T	CCDS8692.1	.	.	.	.	.	.	.	.	.	.	C	39	7.641612	0.98406	.	.	ENSG00000121361	ENST00000240662;ENST00000539350	.	.	.	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.151	0.93488	0.0:1.0:0.0:0.0	.	.	.	.	X	317	.	ENSP00000240662:E317X	E	-	1	0	KCNJ8	21810250	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.638000	0.83328	2.757000	0.94681	0.563000	0.77884	GAG		0.478	KCNJ8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402226.1	NM_004982		27	68	1	0	3.6726e-16	1	3.92727e-16	27	68				
EPG5	57724	broad.mit.edu	37	18	43438676	43438676	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr18:43438676C>G	ENST00000282041.5	-	41	7115	c.7081G>C	c.(7081-7083)Gag>Cag	p.E2361Q	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	2361					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TGCAGGAACTCTTCCATGGTG	0.458																																						ENST00000282041.5																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(7081-7083)Gag>Cag		ectopic P-granules autophagy protein 5 homolog (C. elegans)							79.0	77.0	77.0					18																	43438676		1918	4144	6062	SO:0001583	missense	57724				autophagy			g.chr18:43438676C>G	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.7081G>C	18.37:g.43438676C>G	ENSP00000282041:p.Glu2361Gln					EPG5_ENST00000585906.1_5'UTR	p.E2361Q	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN			41	7115	-			2361					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.7081G>C	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	C	24.8	4.566628	0.86439	.	.	ENSG00000152223	ENST00000282041;ENST00000540322;ENST00000308403	T	0.11712	2.75	6.04	6.04	0.98038	.	.	.	.	.	T	0.15219	0.0367	L	0.34521	1.04	0.45528	D	0.998483	B	0.34329	0.449	B	0.40444	0.329	T	0.02161	-1.1203	9	0.44086	T	0.13	-3.1308	20.5792	0.99380	0.0:1.0:0.0:0.0	.	2361	Q9HCE0	EPG5_HUMAN	Q	2361;289;1236	ENSP00000282041:E2361Q	ENSP00000282041:E2361Q	E	-	1	0	EPG5	41692674	1.000000	0.71417	0.988000	0.46212	0.976000	0.68499	7.818000	0.86416	2.873000	0.98535	0.561000	0.74099	GAG		0.458	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		21	47	0	0	0	1	0	21	47				
MAPK4	5596	broad.mit.edu	37	18	48255618	48255618	+	Silent	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr18:48255618G>A	ENST00000400384.2	+	6	2194	c.1158G>A	c.(1156-1158)tcG>tcA	p.S386S	MAPK4_ENST00000592595.1_3'UTR|MAPK4_ENST00000540640.1_Silent_p.S175S	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	386					cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		GCGCGGGTTCGGCGCCACTGG	0.697																																						ENST00000400384.2																			0				lung(4)|skin(3)|upper_aerodigestive_tract(1)	8						c.(1156-1158)tcG>tcA		mitogen-activated protein kinase 4							22.0	25.0	24.0					18																	48255618		2051	4160	6211	SO:0001819	synonymous_variant	5596				cell cycle		ATP binding|MAP kinase activity	g.chr18:48255618G>A	X59727	CCDS42437.1	18q21.1	2012-10-02			ENSG00000141639	ENSG00000141639		"""Mitogen-activated protein kinase cascade / Kinases"""	6878	protein-coding gene	gene with protein product		176949		PRKM4		8290275	Standard	XM_005258299		Approved	Erk3-related, Erk4	uc002lev.3	P31152	OTTHUMG00000179853	ENST00000400384.2:c.1158G>A	18.37:g.48255618G>A						MAPK4_ENST00000592595.1_3'UTR|MAPK4_ENST00000540640.1_Silent_p.S175S	p.S386S	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN		Colorectal(21;0.156)	6	2194	+		Colorectal(6;0.0297)	386					A1A4C4|Q0VG04	Silent	SNP	ENST00000400384.2	37	c.1158G>A	CCDS42437.1																																																																																				0.697	MAPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448631.2	NM_002747		9	19	0	0	0	1	0	9	19				
CPT2	1376	broad.mit.edu	37	1	53676523	53676523	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr1:53676523C>T	ENST00000371486.3	+	4	1692	c.1177C>T	c.(1177-1179)Cag>Tag	p.Q393*	RP5-1024G6.2_ENST00000452466.1_RNA	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	393					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	AGACAGCACTCAGACCCCTGC	0.507																																						ENST00000371486.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15						c.(1177-1179)Cag>Tag		carnitine palmitoyltransferase 2	L-Carnitine(DB00583)|Perhexiline(DB01074)						42.0	42.0	42.0					1																	53676523		2203	4300	6503	SO:0001587	stop_gained	1376				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity	g.chr1:53676523C>T	BC002445	CCDS575.1	1p32.3	2014-01-09	2009-03-04		ENSG00000157184	ENSG00000157184	2.3.1.21		2330	protein-coding gene	gene with protein product		600650	"""carnitine palmitoyltransferase II"""	CPT1		1339389	Standard	NM_000098		Approved	CPTASE	uc001cvb.4	P23786	OTTHUMG00000008942	ENST00000371486.3:c.1177C>T	1.37:g.53676523C>T	ENSP00000360541:p.Gln393*					RP5-1024G6.2_ENST00000452466.1_RNA	p.Q393*	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN			4	1692	+			393					B2R6S0|Q5SW68|Q9BQ26	Nonsense_Mutation	SNP	ENST00000371486.3	37	c.1177C>T	CCDS575.1	.	.	.	.	.	.	.	.	.	.	C	39	7.339273	0.98221	.	.	ENSG00000157184	ENST00000371486	.	.	.	5.99	4.11	0.48088	.	0.388550	0.31347	N	0.007819	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.7883	6.5801	0.22589	0.2356:0.5867:0.1139:0.0638	.	.	.	.	X	393	.	ENSP00000360541:Q393X	Q	+	1	0	CPT2	53449111	1.000000	0.71417	0.966000	0.40874	0.656000	0.38851	2.217000	0.42880	0.850000	0.35239	0.655000	0.94253	CAG		0.507	CPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024757.1	NM_000098		9	21	0	0	0	1	0	9	21				
ACCSL	390110	broad.mit.edu	37	11	44081461	44081461	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr11:44081461G>C	ENST00000378832.1	+	14	1754	c.1698G>C	c.(1696-1698)atG>atC	p.M566I		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	566					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						AGGATGCAATGAGGGAGTAGG	0.562																																						ENST00000378832.1																			0				central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						c.(1696-1698)atG>atC		1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like							227.0	226.0	226.0					11																	44081461		2048	4205	6253	SO:0001583	missense	390110						1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44081461G>C		CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.1698G>C	11.37:g.44081461G>C	ENSP00000368109:p.Met566Ile						p.M566I	NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN			14	1754	+			566						Missense_Mutation	SNP	ENST00000378832.1	37	c.1698G>C	CCDS41636.1	.	.	.	.	.	.	.	.	.	.	G	5.733	0.319710	0.10845	.	.	ENSG00000205126	ENST00000378832	T	0.65549	-0.16	3.55	-1.52	0.08637	.	0.733388	0.12955	N	0.425520	T	0.30324	0.0761	N	0.03608	-0.345	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.11916	-1.0568	10	0.33940	T	0.23	8.275	4.0819	0.09931	0.3025:0.3803:0.3172:0.0	.	566	Q4AC99	1A1L2_HUMAN	I	566	ENSP00000368109:M566I	ENSP00000368109:M566I	M	+	3	0	ACCSL	44038037	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.321000	0.08018	-0.275000	0.09219	0.561000	0.74099	ATG		0.562	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389717.1	NM_001031854		80	181	0	0	0	1	0	80	181				
TP53	7157	broad.mit.edu	37	17	7577099	7577099	+	Missense_Mutation	SNP	C	C	T	rs121912660		TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr17:7577099C>T	ENST00000269305.4	-	8	1028	c.839G>A	c.(838-840)aGa>aAa	p.R280K	TP53_ENST00000455263.2_Missense_Mutation_p.R280K|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R280K|TP53_ENST00000445888.2_Missense_Mutation_p.R280K|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R280K	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	280	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1694291}.|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1631151}.		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.R280T(65)|p.R280K(49)|p.R280I(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	GCGCCGGTCTCTCCCAGGACA	0.542		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"""		154	Substitution - Missense(130)|Deletion - In frame(8)|Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(2)	p.R280T(65)|p.R280K(49)|p.R280I(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)	urinary_tract(50)|breast(22)|lung(20)|upper_aerodigestive_tract(14)|haematopoietic_and_lymphoid_tissue(8)|large_intestine(5)|central_nervous_system(5)|stomach(4)|biliary_tract(4)|oesophagus(4)|skin(4)|ovary(4)|bone(4)|prostate(3)|small_intestine(1)|endometrium(1)|vagina(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	GRCh37	CM993218	TP53	M	rs121912660	c.(838-840)aGa>aAa	Other conserved DNA damage response genes	tumor protein p53							77.0	67.0	70.0					17																	7577099		2203	4300	6503	SO:0001583	missense	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.chr17:7577099C>T	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.839G>A	17.37:g.7577099C>T	ENSP00000269305:p.Arg280Lys	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_ENST00000445888.2_Missense_Mutation_p.R280K|TP53_ENST00000455263.2_Missense_Mutation_p.R280K|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R280K|TP53_ENST00000269305.4_Missense_Mutation_p.R280K	p.R280K	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)	8	971	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	280		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.839G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	36	5.663043	0.96745	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99854	-7.19;-7.19;-7.19;-7.19;-7.19;-7.19	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99885	0.9945	M	0.92649	3.33	0.80722	D	1	D;D;D;P	0.69078	0.972;0.997;0.977;0.896	D;D;D;D	0.85130	0.942;0.997;0.941;0.921	D	0.96400	0.9296	10	0.87932	D	0	-21.0303	16.1198	0.81342	0.0:1.0:0.0:0.0	.	280;280;280;280	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	K	280;280;280;280;280;269;148	ENSP00000352610:R280K;ENSP00000269305:R280K;ENSP00000398846:R280K;ENSP00000391127:R280K;ENSP00000391478:R280K;ENSP00000425104:R148K	ENSP00000269305:R280K	R	-	2	0	TP53	7517824	0.978000	0.34361	1.000000	0.80357	0.980000	0.70556	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	AGA		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		16	42	0	0	0	1	0	16	42				
IQGAP1	8826	broad.mit.edu	37	15	91034630	91034630	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr15:91034630G>A	ENST00000268182.5	+	34	4438	c.4314G>A	c.(4312-4314)atG>atA	p.M1438I	IQGAP1_ENST00000560738.1_Missense_Mutation_p.M866I	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1438	C2.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CTGACAAGATGAAAAAGTCAA	0.428																																						ENST00000268182.5																			0				breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(4312-4314)atG>atA		IQ motif containing GTPase activating protein 1							123.0	119.0	120.0					15																	91034630		2198	4298	6496	SO:0001583	missense	8826				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	g.chr15:91034630G>A	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.4314G>A	15.37:g.91034630G>A	ENSP00000268182:p.Met1438Ile					IQGAP1_ENST00000560738.1_Missense_Mutation_p.M866I	p.M1438I	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		34	4438	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		1438			C2.		A7MBM3	Missense_Mutation	SNP	ENST00000268182.5	37	c.4314G>A	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297561	0.81025	.	.	ENSG00000140575	ENST00000268182	T	0.02258	4.37	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.05593	0.0147	M	0.78637	2.42	0.80722	D	1	B;B	0.29936	0.262;0.105	B;B	0.29353	0.101;0.067	T	0.45731	-0.9241	10	0.17832	T	0.49	-36.6432	19.6516	0.95815	0.0:0.0:1.0:0.0	.	59;1438	B4DNP4;P46940	.;IQGA1_HUMAN	I	1438	ENSP00000268182:M1438I	ENSP00000268182:M1438I	M	+	3	0	IQGAP1	88835634	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.787000	0.99055	2.894000	0.99253	0.655000	0.94253	ATG		0.428	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		9	71	0	0	0	1	0	9	71				
PRRG3	79057	broad.mit.edu	37	X	150868557	150868557	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chrX:150868557G>C	ENST00000370353.3	+	3	487	c.97G>C	c.(97-99)Gag>Cag	p.E33Q	PRRG3_ENST00000370354.1_Missense_Mutation_p.E41Q|PRRG3_ENST00000538575.1_Missense_Mutation_p.E33Q			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	33	Gla. {ECO:0000255|PROSITE- ProRule:PRU00463}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					GGGCACCATCGAGCGAGAGTG	0.562																																						ENST00000370353.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24						c.(97-99)Gag>Cag		proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)							85.0	75.0	78.0					X																	150868557		2203	4300	6503	SO:0001583	missense	79057					extracellular region|integral to membrane	calcium ion binding	g.chrX:150868557G>C	AK074574	CCDS14699.1	Xq28	2008-02-05			ENSG00000130032	ENSG00000130032			30798	protein-coding gene	gene with protein product		300685				11171957	Standard	NM_024082		Approved	TMG3	uc022cgt.1	Q9BZD7	OTTHUMG00000024170	ENST00000370353.3:c.97G>C	X.37:g.150868557G>C	ENSP00000359378:p.Glu33Gln					PRRG3_ENST00000370354.1_Missense_Mutation_p.E41Q|PRRG3_ENST00000538575.1_Missense_Mutation_p.E33Q	p.E33Q			Q9BZD7	TMG3_HUMAN			3	487	+	Acute lymphoblastic leukemia(192;6.56e-05)		33			Gla.		A1A523|A1A575|Q8N2N6	Missense_Mutation	SNP	ENST00000370353.3	37	c.97G>C	CCDS14699.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.312607	0.81358	.	.	ENSG00000130032	ENST00000448726;ENST00000538575;ENST00000370354;ENST00000370353	D;D;D;D	0.99503	-6.03;-6.03;-6.03;-6.03	4.7	4.7	0.59300	Gamma-carboxyglutamic acid-rich (GLA) domain (5);Coagulation factor, subgroup, Gla domain (1);	0.125892	0.51477	D	0.000099	D	0.99510	0.9825	M	0.87381	2.88	0.48696	D	0.999696	D	0.89917	1.0	D	0.77004	0.989	D	0.98260	1.0498	10	0.72032	D	0.01	.	14.1729	0.65522	0.0:0.0:1.0:0.0	.	33	Q9BZD7	TMG3_HUMAN	Q	33;33;41;33	ENSP00000411509:E33Q;ENSP00000440217:E33Q;ENSP00000359379:E41Q;ENSP00000359378:E33Q	ENSP00000359378:E33Q	E	+	1	0	PRRG3	150619213	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	5.238000	0.65366	1.910000	0.55303	0.529000	0.55759	GAG		0.562	PRRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060880.1	NM_024082		18	69	0	0	0	1	0	18	69				
ATXN1	6310	broad.mit.edu	37	6	16327555	16327555	+	Silent	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr6:16327555C>T	ENST00000244769.4	-	8	1923	c.987G>A	c.(985-987)gaG>gaA	p.E329E	ATXN1_ENST00000436367.1_Silent_p.E329E	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	329					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GCCGGCTCTTCTCCATCTCAC	0.677																																						ENST00000244769.4																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44						c.(985-987)gaG>gaA		ataxin 1							40.0	47.0	44.0					6																	16327555		2203	4300	6503	SO:0001819	synonymous_variant	6310				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	g.chr6:16327555C>T	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.987G>A	6.37:g.16327555C>T						ATXN1_ENST00000436367.1_Silent_p.E329E	p.E329E	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN			8	1923	-	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)	329					Q17S02|Q9UJG2|Q9Y4J1	Silent	SNP	ENST00000244769.4	37	c.987G>A	CCDS34342.1																																																																																				0.677	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		28	59	0	0	0	1	0	28	59				
FLG2	388698	broad.mit.edu	37	1	152328434	152328434	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr1:152328434C>T	ENST00000388718.5	-	3	1900	c.1828G>A	c.(1828-1830)Gag>Aag	p.E610K	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	610	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATCTAGACTCATGTTGTCCA	0.512																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(1828-1830)Gag>Aag		filaggrin family member 2							174.0	239.0	217.0					1																	152328434		2203	4299	6502	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152328434C>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.1828G>A	1.37:g.152328434C>T	ENSP00000373370:p.Glu610Lys					FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.E610K	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1900	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		610			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.1828G>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	8.596	0.885730	0.17540	.	.	ENSG00000143520	ENST00000388718	T	0.29397	1.57	4.49	2.51	0.30379	.	.	.	.	.	T	0.08313	0.0207	L	0.47716	1.5	0.09310	N	1	B	0.26809	0.16	B	0.20577	0.03	T	0.30880	-0.9963	9	0.12766	T	0.61	0.0987	7.1719	0.25722	0.1683:0.7372:0.0:0.0944	.	610	Q5D862	FILA2_HUMAN	K	610	ENSP00000373370:E610K	ENSP00000373370:E610K	E	-	1	0	FLG2	150595058	0.000000	0.05858	0.017000	0.16124	0.022000	0.10575	0.000000	0.12993	1.099000	0.41499	0.655000	0.94253	GAG		0.512	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		20	295	0	0	0	1	0	20	295				
RRN3P1	730092	broad.mit.edu	37	16	21812113	21812113	+	RNA	SNP	C	C	G			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr16:21812113C>G	ENST00000546471.1	-	0	1745							Q2M238	RN3P1_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1																		TTACTTGGATCCTGCAAGTTT	0.378																																						ENST00000546471.1																			0																																																			730092							g.chr16:21812113C>G			16p12.2	2012-10-16			ENSG00000248124	ENSG00000248124			30548	pseudogene	pseudogene						12477932	Standard	NR_003370		Approved		uc010vbl.1	Q2M238	OTTHUMG00000170417		16.37:g.21812113C>G														0	1745	-								A8K6T4|B3KWX9|O75704	RNA	SNP	ENST00000546471.1	37																																																																																						0.378	RRN3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409035.1	NR_003370		25	91	0	0	0	1	0	25	91				
ATXN7L2	127002	broad.mit.edu	37	1	110033563	110033563	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr1:110033563G>A	ENST00000369870.3	+	10	1393	c.1378G>A	c.(1378-1380)Gaa>Aaa	p.E460K		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	460										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		ACCGGCAGCTGAACCTCCAGC	0.577											OREG0013635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000369870.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17						c.(1378-1380)Gaa>Aaa		ataxin 7-like 2							82.0	86.0	85.0					1																	110033563		2203	4300	6503	SO:0001583	missense	127002							g.chr1:110033563G>A	BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650			28713	protein-coding gene	gene with protein product						12477932	Standard	NM_153340		Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.1378G>A	1.37:g.110033563G>A	ENSP00000358886:p.Glu460Lys		OREG0013635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1424		p.E460K	NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)	10	1393	+		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)	460						Missense_Mutation	SNP	ENST00000369870.3	37	c.1378G>A	CCDS30794.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.705316	0.68615	.	.	ENSG00000162650	ENST00000369870;ENST00000541125;ENST00000369869	T	0.32753	1.44	5.16	5.16	0.70880	.	0.183242	0.38548	N	0.001651	T	0.43188	0.1236	L	0.59436	1.845	0.42148	D	0.991542	D	0.63880	0.993	D	0.70935	0.971	T	0.21861	-1.0233	10	0.52906	T	0.07	-15.3276	15.6752	0.77311	0.0:0.0:1.0:0.0	.	460	Q5T6C5	AT7L2_HUMAN	K	460;460;87	ENSP00000358886:E460K	ENSP00000358885:E87K	E	+	1	0	ATXN7L2	109835086	0.836000	0.29430	1.000000	0.80357	0.636000	0.38137	3.026000	0.49689	2.685000	0.91497	0.400000	0.26472	GAA		0.577	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030331.1	NM_153340		37	84	0	0	0	1	0	37	84				
RPIA	22934	broad.mit.edu	37	2	89028799	89028799	+	Missense_Mutation	SNP	C	C	T	rs375132883		TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr2:89028799C>T	ENST00000283646.4	+	4	461	c.406C>T	c.(406-408)Cgc>Tgc	p.R136C		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	136					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|ribose phosphate metabolic process (GO:0019693)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	monosaccharide binding (GO:0048029)|ribose-5-phosphate isomerase activity (GO:0004751)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				TCCGCAGGCCCGCCAGCTCAT	0.512																																						ENST00000283646.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						c.(406-408)Cgc>Tgc		ribose 5-phosphate isomerase A		C	CYS/ARG	0,4008		0,0,2004	74.0	78.0	77.0		406	4.8	1.0	2		77	1,8323		0,1,4161	no	missense	RPIA	NM_144563.2	180	0,1,6165	TT,TC,CC		0.012,0.0,0.0081	probably-damaging	136/312	89028799	1,12331	2004	4162	6166	SO:0001583	missense	22934				pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity	g.chr2:89028799C>T	L35035	CCDS2004.2	2p11.2	2008-07-31	2008-07-31		ENSG00000153574	ENSG00000153574	5.3.1.6		10297	protein-coding gene	gene with protein product	"""ribose 5-phosphate epimerase"""	180430				7758956	Standard	NM_144563		Approved		uc002ste.3	P49247	OTTHUMG00000130333	ENST00000283646.4:c.406C>T	2.37:g.89028799C>T	ENSP00000283646:p.Arg136Cys						p.R136C	NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN			4	461	+		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)	136					Q541P9|Q96BJ6	Missense_Mutation	SNP	ENST00000283646.4	37	c.406C>T	CCDS2004.2	.	.	.	.	.	.	.	.	.	.	C	24.4	4.526850	0.85706	0.0	1.2E-4	ENSG00000153574	ENST00000283646;ENST00000543560	T	0.77620	-1.11	5.71	4.81	0.61882	.	0.000000	0.85682	D	0.000000	D	0.90669	0.7073	M	0.93150	3.385	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.93043	0.6459	10	0.87932	D	0	-15.5091	15.2672	0.73672	0.1458:0.8542:0.0:0.0	.	136	P49247	RPIA_HUMAN	C	136;2	ENSP00000283646:R136C	ENSP00000283646:R136C	R	+	1	0	RPIA	88809914	1.000000	0.71417	0.999000	0.59377	0.923000	0.55619	4.529000	0.60588	1.348000	0.45733	0.655000	0.94253	CGC		0.512	RPIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252683.2			10	33	0	0	0	1	0	10	33				
SLC7A9	11136	broad.mit.edu	37	19	33353089	33353089	+	Silent	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr19:33353089G>A	ENST00000023064.4	-	6	830	c.639C>T	c.(637-639)ggC>ggT	p.G213G	SLC7A9_ENST00000587772.1_Silent_p.G213G|SLC7A9_ENST00000590341.1_Silent_p.G213G|RN7SKP22_ENST00000365097.1_RNA	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	213					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	ACAGCTGGGCGCCCTCGAAAG	0.537																																					GBM(181;1335 2108 9644 44178 46689)	ENST00000023064.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32						c.(637-639)ggC>ggT		solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	L-Cystine(DB00138)						79.0	78.0	78.0					19																	33353089		2203	4300	6503	SO:0001819	synonymous_variant	11136				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding	g.chr19:33353089G>A	AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"""Solute carriers"""	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.639C>T	19.37:g.33353089G>A						SLC7A9_ENST00000590341.1_Silent_p.G213G|SLC7A9_ENST00000587772.1_Silent_p.G213G	p.G213G	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN			6	830	-	Esophageal squamous(110;0.137)		213					B2R9A6	Silent	SNP	ENST00000023064.4	37	c.639C>T	CCDS12425.1																																																																																				0.537	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450585.1			15	65	0	0	0	1	0	15	65				
ABHD11	83451	broad.mit.edu	37	7	73150995	73150995	+	Missense_Mutation	SNP	C	C	T	rs369972809		TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr7:73150995C>T	ENST00000222800.3	-	6	911	c.842G>A	c.(841-843)cGg>cAg	p.R281Q	ABHD11_ENST00000468998.1_5'Flank|ABHD11_ENST00000395147.4_Missense_Mutation_p.R224Q|LINC00035_ENST00000427153.1_RNA|ABHD11_ENST00000458339.1_3'UTR|ABHD11_ENST00000437775.2_Missense_Mutation_p.R274Q	NM_148912.2	NP_683710.1	Q8NFV4	ABHDB_HUMAN	abhydrolase domain containing 11	281						mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Lung NSC(55;0.0908)|all_lung(88;0.198)				AGGGAAGAGCCGCATAATCTC	0.607																																						ENST00000222800.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(1)	4						c.(841-843)cGg>cAg		abhydrolase domain containing 11		C	GLN/ARG,GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	92.0	85.0	87.0		671,842,821	3.8	0.2	7		87	0,8600		0,0,4300	no	missense,missense,missense	ABHD11	NM_001145364.1,NM_148912.2,NM_148913.2	43,43,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	224/259,281/316,274/309	73150995	1,13005	2203	4300	6503	SO:0001583	missense	83451						hydrolase activity	g.chr7:73150995C>T	AF217971	CCDS5558.1, CCDS47607.1, CCDS47608.1, CCDS75615.1	7q11.23	2010-08-05	2005-01-24	2005-01-27	ENSG00000106077	ENSG00000106077		"""Abhydrolase domain containing"""	16407	protein-coding gene	gene with protein product			"""Williams Beuren syndrome chromosome region 21"""	WBSCR21		12073013	Standard	NR_026910		Approved	PP1226	uc003tzb.3	Q8NFV4	OTTHUMG00000130029	ENST00000222800.3:c.842G>A	7.37:g.73150995C>T	ENSP00000222800:p.Arg281Gln					ABHD11_ENST00000458339.1_3'UTR|ABHD11_ENST00000437775.2_Missense_Mutation_p.R274Q|ABHD11_ENST00000395147.4_Missense_Mutation_p.R224Q	p.R281Q	NM_148912.2	NP_683710.1	Q8NFV4	ABHDB_HUMAN			6	911	-		Lung NSC(55;0.0908)|all_lung(88;0.198)	281					H7BYM8|Q6PJU0|Q8N722|Q8N723|Q8NFV2|Q8NFV3|Q9HBS8	Missense_Mutation	SNP	ENST00000222800.3	37	c.842G>A	CCDS5558.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.414585	0.62511	2.27E-4	0.0	ENSG00000106077	ENST00000437775;ENST00000222800;ENST00000395147	T;T;T	0.66280	-0.2;-0.2;-0.2	4.63	3.75	0.43078	.	0.000000	0.85682	D	0.000000	T	0.55257	0.1909	L	0.49350	1.555	0.49051	D	0.999741	P;P	0.41265	0.744;0.504	B;B	0.41466	0.358;0.19	T	0.53816	-0.8385	10	0.45353	T	0.12	-20.758	8.6326	0.33928	0.0:0.8933:0.0:0.1067	.	274;281	Q8NFV4-4;Q8NFV4	.;ABHDB_HUMAN	Q	274;281;224	ENSP00000416970:R274Q;ENSP00000222800:R281Q;ENSP00000378579:R224Q	ENSP00000222800:R281Q	R	-	2	0	ABHD11	72788931	0.763000	0.28462	0.183000	0.23137	0.869000	0.49853	4.885000	0.63142	0.945000	0.37605	0.561000	0.74099	CGG		0.607	ABHD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252306.1			15	71	0	0	0	1	0	15	71				
PARP8	79668	broad.mit.edu	37	5	50091150	50091150	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr5:50091150G>C	ENST00000281631.5	+	12	1485	c.1327G>C	c.(1327-1329)Gag>Cag	p.E443Q	PARP8_ENST00000514342.2_Missense_Mutation_p.E196Q|PARP8_ENST00000503750.2_Missense_Mutation_p.E443Q|PARP8_ENST00000505697.2_Missense_Mutation_p.E443Q|PARP8_ENST00000505554.1_Missense_Mutation_p.E422Q|PARP8_ENST00000514067.2_Missense_Mutation_p.E443Q|PARP8_ENST00000511363.2_3'UTR	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	443						intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				ATCCAAAACTGAGCTTTTCAA	0.443																																						ENST00000281631.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1327-1329)Gag>Cag		poly (ADP-ribose) polymerase family, member 8							83.0	86.0	85.0					5																	50091150		2203	4300	6503	SO:0001583	missense	79668					intracellular	NAD+ ADP-ribosyltransferase activity	g.chr5:50091150G>C	AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"""Poly (ADP-ribose) polymerases"""	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.1327G>C	5.37:g.50091150G>C	ENSP00000281631:p.Glu443Gln					PARP8_ENST00000503750.2_Missense_Mutation_p.E443Q|PARP8_ENST00000514342.2_Missense_Mutation_p.E196Q|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514067.2_Missense_Mutation_p.E443Q|PARP8_ENST00000505554.1_Missense_Mutation_p.E422Q|PARP8_ENST00000505697.2_Missense_Mutation_p.E443Q	p.E443Q	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN			12	1485	+		Lung NSC(810;0.0305)|Breast(144;0.222)	443					Q3KRB7|Q6DHZ1|Q9H754	Missense_Mutation	SNP	ENST00000281631.5	37	c.1327G>C	CCDS3954.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.542217	0.65198	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000514342;ENST00000281631;ENST00000514067;ENST00000505554;ENST00000503561;ENST00000423185	.	.	.	5.45	5.45	0.79879	.	0.069228	0.64402	D	0.000012	T	0.43722	0.1260	N	0.14661	0.345	0.49213	D	0.999766	B;B;B	0.31383	0.321;0.241;0.321	B;B;B	0.31812	0.133;0.136;0.133	T	0.29731	-1.0002	8	.	.	.	-11.5271	19.7111	0.96096	0.0:0.0:1.0:0.0	.	335;443;443	B4DQ81;Q8N3A8-2;Q8N3A8	.;.;PARP8_HUMAN	Q	443;443;196;443;443;422;196;196	.	.	E	+	1	0	PARP8	50126907	1.000000	0.71417	0.967000	0.41034	0.996000	0.88848	8.094000	0.89533	2.703000	0.92315	0.650000	0.86243	GAG		0.443	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3	NM_024615		31	94	0	0	0	1	0	31	94				
ETNK2	55224	broad.mit.edu	37	1	204119045	204119045	+	Missense_Mutation	SNP	C	C	T	rs530687373		TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr1:204119045C>T	ENST00000367202.4	-	2	454	c.304G>A	c.(304-306)Gag>Aag	p.E102K	ETNK2_ENST00000367201.3_Missense_Mutation_p.E102K|ETNK2_ENST00000367199.2_Missense_Mutation_p.E74K|ETNK2_ENST00000367198.2_5'Flank	NM_018208.2	NP_060678.2	Q9NVF9	EKI2_HUMAN	ethanolamine kinase 2	102					glycerophospholipid biosynthetic process (GO:0046474)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|placenta development (GO:0001890)|post-embryonic development (GO:0009791)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ethanolamine kinase activity (GO:0004305)			breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			ATGTCCTCCTCCACATAGCAG	0.627													C|||	1	0.000199681	0.0008	0.0	5008	,	,		11771	0.0		0.0	False		,,,				2504	0.0					ENST00000367199.2																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7						c.(220-222)Gag>Aag		ethanolamine kinase 2							51.0	39.0	43.0					1																	204119045		2200	4291	6491	SO:0001583	missense	55224						ATP binding|choline kinase activity|ethanolamine kinase activity	g.chr1:204119045C>T	AK001623	CCDS1442.2, CCDS73006.1	1q32.1	2008-02-05			ENSG00000143845	ENSG00000143845			25575	protein-coding gene	gene with protein product		609859				12477932	Standard	XM_005245302		Approved	FLJ10761, EKI2	uc001hao.4	Q9NVF9	OTTHUMG00000036061	ENST00000367202.4:c.304G>A	1.37:g.204119045C>T	ENSP00000356170:p.Glu102Lys					ETNK2_ENST00000367202.4_Missense_Mutation_p.E102K|ETNK2_ENST00000367201.3_Missense_Mutation_p.E102K	p.E74K			Q9NVF9	EKI2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		2	630	-	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		102					B7Z7K1|Q5SXX5|Q68CK3|Q96G05	Missense_Mutation	SNP	ENST00000367202.4	37	c.220G>A	CCDS1442.2	.	.	.	.	.	.	.	.	.	.	C	17.41	3.383080	0.61845	.	.	ENSG00000143845	ENST00000367201;ENST00000367202;ENST00000367199	T;T;T	0.56776	0.44;0.44;0.44	5.52	5.52	0.82312	Protein kinase-like domain (1);	0.210963	0.49305	D	0.000145	T	0.42607	0.1210	L	0.36672	1.1	0.80722	D	1	B;B;P	0.41848	0.006;0.004;0.763	B;B;B	0.36845	0.009;0.004;0.234	T	0.28839	-1.0031	10	0.13108	T	0.6	-4.6113	19.0343	0.92971	0.0:1.0:0.0:0.0	.	102;102;102	Q9NVF9-3;Q9NVF9;Q9NVF9-2	.;EKI2_HUMAN;.	K	102;102;74	ENSP00000356169:E102K;ENSP00000356170:E102K;ENSP00000356167:E74K	ENSP00000356167:E74K	E	-	1	0	ETNK2	202385668	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.473000	0.66774	2.597000	0.87782	0.643000	0.83706	GAG		0.627	ETNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087893.1	NM_018208		3	7	0	0	0	1	0	3	7				
SULT1A2	6799	broad.mit.edu	37	16	28603676	28603676	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr16:28603676G>A	ENST00000395630.1	-	7	1033	c.683C>T	c.(682-684)tCg>tTg	p.S228L	SULT1A2_ENST00000533150.1_Missense_Mutation_p.S195L|SULT1A2_ENST00000335715.4_Missense_Mutation_p.S228L	NM_177528.2	NP_803564	P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	228					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine biosynthetic process (GO:0009309)|catecholamine metabolic process (GO:0006584)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|sulfotransferase activity (GO:0008146)			NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						CTCCTTGAACGACGTGTGCTC	0.547																																						ENST00000533150.1																			0				NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						c.(583-585)tCg>tTg		sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2							210.0	183.0	192.0					16																	28603676		2197	4300	6497	SO:0001583	missense	6799				3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity	g.chr16:28603676G>A	U34804	CCDS10636.1	16p12.1	2008-02-05			ENSG00000197165	ENSG00000197165	2.8.2.1	"""Sulfotransferases, cytosolic"""	11454	protein-coding gene	gene with protein product		601292		STP2		8661000, 8912648	Standard	NM_001054		Approved	HAST4	uc002dqh.2	P50226	OTTHUMG00000048082	ENST00000395630.1:c.683C>T	16.37:g.28603676G>A	ENSP00000378992:p.Ser228Leu					SULT1A2_ENST00000335715.4_Missense_Mutation_p.S228L|SULT1A2_ENST00000395630.1_Missense_Mutation_p.S228L	p.S195L			P50226	ST1A2_HUMAN			3	1700	-			228					A9QY25|P78393|Q14CJ7	Missense_Mutation	SNP	ENST00000395630.1	37	c.584C>T	CCDS10636.1	.	.	.	.	.	.	.	.	.	.	g	15.91	2.971839	0.53614	.	.	ENSG00000197165	ENST00000533150;ENST00000335715;ENST00000395630	T;T;T	0.03094	4.05;4.05;4.05	4.98	4.98	0.66077	Sulfotransferase domain (1);	0.168341	0.41605	D	0.000860	T	0.34164	0.0888	H	0.99042	4.41	0.33660	D	0.609554	D	0.89917	1.0	D	0.97110	1.0	T	0.69209	-0.5205	10	0.87932	D	0	.	15.796	0.78409	0.0:0.0:1.0:0.0	.	228	P50226	ST1A2_HUMAN	L	195;228;228	ENSP00000435271:S195L;ENSP00000338742:S228L;ENSP00000378992:S228L	ENSP00000338742:S228L	S	-	2	0	SULT1A2	28511177	0.976000	0.34144	0.108000	0.21378	0.046000	0.14306	3.435000	0.52849	2.300000	0.77407	0.456000	0.33151	TCG		0.547	SULT1A2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109415.2	NM_001054		48	101	0	0	0	1	0	48	101				
ZNF425	155054	broad.mit.edu	37	7	148801588	148801588	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr7:148801588C>T	ENST00000378061.2	-	4	1507	c.1375G>A	c.(1375-1377)Gcc>Acc	p.A459T		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	459					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CGCTGGTGGGCGCGCATGGCG	0.662																																						ENST00000378061.2																			0				breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(1375-1377)Gcc>Acc		zinc finger protein 425							33.0	34.0	34.0					7																	148801588		2203	4300	6503	SO:0001583	missense	155054				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr7:148801588C>T	AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.1375G>A	7.37:g.148801588C>T	ENSP00000367300:p.Ala459Thr						p.A459T	NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		4	1507	-	Melanoma(164;0.15)		459					B3KPM1|Q08AG3	Missense_Mutation	SNP	ENST00000378061.2	37	c.1375G>A	CCDS34773.1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.287441	0.40494	.	.	ENSG00000204947	ENST00000378061	T	0.18174	2.23	3.17	2.23	0.28157	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12860	0.0312	N	0.16743	0.435	0.09310	N	1	D	0.69078	0.997	P	0.53722	0.733	T	0.11131	-1.0600	9	0.11794	T	0.64	.	4.3399	0.11105	0.0:0.6245:0.2412:0.1344	.	459	Q6IV72	ZN425_HUMAN	T	459	ENSP00000367300:A459T	ENSP00000367300:A459T	A	-	1	0	ZNF425	148432521	0.000000	0.05858	0.266000	0.24541	0.857000	0.48899	-0.979000	0.03774	0.614000	0.30107	0.655000	0.94253	GCC		0.662	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	XM_088140		25	64	0	0	0	1	0	25	64				
ERP44	23071	broad.mit.edu	37	9	102747299	102747299	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr9:102747299G>A	ENST00000262455.6	-	11	1268	c.1069C>T	c.(1069-1071)Cac>Tac	p.H357Y		NM_015051.1	NP_055866.1	Q9BS26	ERP44_HUMAN	endoplasmic reticulum protein 44	357					cell redox homeostasis (GO:0045454)|glycoprotein metabolic process (GO:0009100)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)	19						AATTCTCTGTGCAGTTTTCCA	0.368																																						ENST00000262455.6																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)	19						c.(1069-1071)Cac>Tac		endoplasmic reticulum protein 44							108.0	103.0	105.0					9																	102747299		2203	4300	6503	SO:0001583	missense	23071				cell redox homeostasis|glycoprotein metabolic process|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|ER-Golgi intermediate compartment	protein binding|protein disulfide isomerase activity	g.chr9:102747299G>A	AB011145	CCDS35082.1	9q22.33	2011-10-19	2009-02-23	2009-02-23	ENSG00000023318	ENSG00000023318		"""Protein disulfide isomerases"""	18311	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 10"""	609170	"""thioredoxin domain containing 4 (endoplasmic reticulum)"""	TXNDC4		11847130	Standard	NM_015051		Approved	KIAA0573, PDIA10	uc004bam.3	Q9BS26	OTTHUMG00000020363	ENST00000262455.6:c.1069C>T	9.37:g.102747299G>A	ENSP00000262455:p.His357Tyr						p.H357Y	NM_015051.1	NP_055866.1	Q9BS26	ERP44_HUMAN			11	1268	-			357					O60319|Q4VXC1|Q5VWZ7|Q6UW14|Q8WX67	Missense_Mutation	SNP	ENST00000262455.6	37	c.1069C>T	CCDS35082.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.894349	0.91889	.	.	ENSG00000023318	ENST00000262455	T	0.14144	2.53	5.91	5.91	0.95273	Thioredoxin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.46600	0.1401	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.50947	-0.8767	10	0.72032	D	0.01	0.6325	18.479	0.90804	0.0:0.0:1.0:0.0	.	357	Q9BS26	ERP44_HUMAN	Y	357	ENSP00000262455:H357Y	ENSP00000262455:H357Y	H	-	1	0	ERP44	101787120	1.000000	0.71417	0.989000	0.46669	0.993000	0.82548	8.177000	0.89688	2.793000	0.96121	0.655000	0.94253	CAC		0.368	ERP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053402.1	XM_088476		15	48	0	0	0	1	0	15	48				
STXBP5L	9515	broad.mit.edu	37	3	121132062	121132062	+	Silent	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr3:121132062G>A	ENST00000273666.6	+	25	3349	c.3078G>A	c.(3076-3078)agG>agA	p.R1026R	STXBP5L_ENST00000471454.1_Silent_p.R1002R	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	1026					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		CAGACATGAGGATAGCACGAA	0.388																																						ENST00000273666.6																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(3076-3078)agG>agA		syntaxin binding protein 5-like							165.0	149.0	154.0					3																	121132062		1935	4135	6070	SO:0001819	synonymous_variant	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:121132062G>A	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.3078G>A	3.37:g.121132062G>A						STXBP5L_ENST00000471454.1_Silent_p.R1002R	p.R1026R	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	25	3349	+			1026					Q4G1B4|Q6PIC3	Silent	SNP	ENST00000273666.6	37	c.3078G>A	CCDS43137.1																																																																																				0.388	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			28	73	0	0	0	1	0	28	73				
UGT2B10	7365	broad.mit.edu	37	4	69693207	69693207	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr4:69693207C>G	ENST00000265403.7	+	5	1275	c.1248C>G	c.(1246-1248)ttC>ttG	p.F416L	UGT2B10_ENST00000458688.2_Missense_Mutation_p.F332L	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	416					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GAGTGGACTTCAACACAATGT	0.403																																					Melanoma(133;755 1763 25578 26334 46021)	ENST00000265403.7																			0				endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						c.(1246-1248)ttC>ttG		UDP glucuronosyltransferase 2 family, polypeptide B10							216.0	233.0	227.0					4																	69693207		1511	2707	4218	SO:0001583	missense	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69693207C>G	X63359	CCDS75135.1, CCDS75136.1	4q13.3	2008-02-05	2005-07-20			ENSG00000109181		"""UDP glucuronosyltransferases"""	12544	protein-coding gene	gene with protein product		600070	"""UDP glycosyltransferase 2 family, polypeptide B10"""			8333863	Standard	NM_001075		Approved		uc003hee.3	P36537		ENST00000265403.7:c.1248C>G	4.37:g.69693207C>G	ENSP00000265403:p.Phe416Leu					UGT2B10_ENST00000458688.2_Missense_Mutation_p.F332L	p.F416L	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN			5	1275	+			416					A8K9M3|B4DPP1|Q14CR8	Missense_Mutation	SNP	ENST00000265403.7	37	c.1248C>G		.	.	.	.	.	.	.	.	.	.	c	0.019	-1.450083	0.01080	.	.	ENSG00000109181	ENST00000265403;ENST00000458688	T;T	0.58506	0.33;0.33	2.25	-4.5	0.03493	.	0.175257	0.38272	N	0.001758	T	0.28134	0.0694	N	0.17922	0.545	0.09310	N	1	B;B	0.14438	0.01;0.008	B;B	0.19391	0.025;0.005	T	0.13926	-1.0491	10	0.22706	T	0.39	.	0.3231	0.00306	0.2967:0.2847:0.1486:0.27	.	332;416	B4DPP1;P36537	.;UDB10_HUMAN	L	416;332	ENSP00000265403:F416L;ENSP00000413420:F332L	ENSP00000265403:F416L	F	+	3	2	UGT2B10	69727796	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.746000	0.00795	-1.721000	0.01378	-1.123000	0.02005	TTC		0.403	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365169.1	NM_001075		57	181	0	0	0	1	0	57	181				
BBS9	27241	broad.mit.edu	37	7	33296955	33296955	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr7:33296955C>T	ENST00000242067.6	+	6	1071	c.550C>T	c.(550-552)Ctt>Ttt	p.L184F	BBS9_ENST00000354265.4_Missense_Mutation_p.L184F|BBS9_ENST00000396127.2_Missense_Mutation_p.L184F|BBS9_ENST00000355070.2_Missense_Mutation_p.L184F|BBS9_ENST00000425508.2_Missense_Mutation_p.L139F|BBS9_ENST00000350941.3_Missense_Mutation_p.L184F	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	184					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			GCCTGGTCCTCTTGCCTACAG	0.428									Bardet-Biedl syndrome																													ENST00000242067.6																		BBS9/PKD1L1(2)	0				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50						c.(550-552)Ctt>Ttt		Bardet-Biedl syndrome 9							188.0	178.0	182.0					7																	33296955		2203	4300	6503	SO:0001583	missense	27241	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	g.chr7:33296955C>T		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.550C>T	7.37:g.33296955C>T	ENSP00000242067:p.Leu184Phe					BBS9_ENST00000396127.2_Missense_Mutation_p.L184F|BBS9_ENST00000350941.3_Missense_Mutation_p.L184F|BBS9_ENST00000355070.2_Missense_Mutation_p.L184F|BBS9_ENST00000354265.4_Missense_Mutation_p.L184F|BBS9_ENST00000425508.2_Missense_Mutation_p.L139F	p.L184F	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		6	1071	+			184					E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Missense_Mutation	SNP	ENST00000242067.6	37	c.550C>T	CCDS43566.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.644576	0.67358	.	.	ENSG00000122507	ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132;ENST00000396125;ENST00000425508;ENST00000442858;ENST00000537775	D;D;D;D;D;D;D	0.86562	-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.88607	0.6482	M	0.64170	1.965	0.45427	D	0.998409	P;P;P;P;P	0.49307	0.737;0.922;0.922;0.922;0.922	B;P;P;P;P	0.53313	0.374;0.498;0.723;0.498;0.723	D	0.86348	0.1709	10	0.33141	T	0.24	-20.0537	10.2431	0.43324	0.0:0.8495:0.0:0.1505	.	184;184;184;184;184	B3KQ86;Q3SYG4-2;E9PDC9;Q3SYG4-4;Q3SYG4	.;.;.;.;PTHB1_HUMAN	F	184;184;184;184;184;184;184;139;62;62	ENSP00000242067:L184F;ENSP00000313122:L184F;ENSP00000379433:L184F;ENSP00000347182:L184F;ENSP00000346214:L184F;ENSP00000405151:L139F;ENSP00000388646:L62F	ENSP00000242067:L184F	L	+	1	0	BBS9	33263480	0.996000	0.38824	1.000000	0.80357	0.987000	0.75469	3.215000	0.51169	2.776000	0.95493	0.655000	0.94253	CTT		0.428	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1			51	96	0	0	0	1	0	51	96				
DMBX1	127343	broad.mit.edu	37	1	46977984	46977984	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr1:46977984T>C	ENST00000360032.3	+	4	966	c.952T>C	c.(952-954)Tcc>Ccc	p.S318P	DMBX1_ENST00000371956.4_Missense_Mutation_p.S323P	NM_172225.1	NP_757379.1			diencephalon/mesencephalon homeobox 1											endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					CTACTACCAGTCCCTGTCAGC	0.687																																						ENST00000371956.4																			0				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(967-969)Tcc>Ccc		diencephalon/mesencephalon homeobox 1							25.0	28.0	27.0					1																	46977984		2203	4300	6503	SO:0001583	missense	127343				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:46977984T>C	AB037699	CCDS536.1	1p34.1	2011-06-20	2004-03-29	2004-03-30	ENSG00000197587	ENSG00000197587		"""Homeoboxes / PRD class"""	19026	protein-coding gene	gene with protein product		607410	"""orthodenticle homolog 3 (Drosophila)"""	OTX3			Standard	NM_147192		Approved	PAXB	uc001cpx.3	Q8NFW5	OTTHUMG00000007982	ENST00000360032.3:c.952T>C	1.37:g.46977984T>C	ENSP00000353132:p.Ser318Pro					DMBX1_ENST00000360032.3_Missense_Mutation_p.S318P	p.S323P	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN			4	982	+	Acute lymphoblastic leukemia(166;0.155)		323						Missense_Mutation	SNP	ENST00000360032.3	37	c.967T>C	CCDS536.1	.	.	.	.	.	.	.	.	.	.	T	19.83	3.899973	0.72754	.	.	ENSG00000197587	ENST00000371956;ENST00000360032	D;D	0.94650	-3.39;-3.48	5.33	5.33	0.75918	.	0.052460	0.85682	D	0.000000	D	0.95414	0.8511	L	0.46157	1.445	0.80722	D	1	D;D	0.67145	0.993;0.996	P;D	0.63703	0.827;0.917	D	0.95125	0.8250	10	0.45353	T	0.12	.	14.7683	0.69657	0.0:0.0:0.0:1.0	.	323;318	Q8NFW5;Q8NFW5-2	DMBX1_HUMAN;.	P	323;318	ENSP00000361024:S323P;ENSP00000353132:S318P	ENSP00000353132:S318P	S	+	1	0	DMBX1	46750571	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.917000	0.56424	2.152000	0.67230	0.459000	0.35465	TCC		0.687	DMBX1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021895.1			14	30	0	0	0	1	0	14	30				
USF1	7391	broad.mit.edu	37	1	161010637	161010637	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr1:161010637G>A	ENST00000368021.3	-	8	790	c.586C>T	c.(586-588)Cgg>Tgg	p.R196W	USF1_ENST00000435396.1_Missense_Mutation_p.R137W|F11R_ENST00000289779.3_5'Flank|TSTD1_ENST00000318289.10_5'Flank|TSTD1_ENST00000423014.2_5'Flank|TSTD1_ENST00000368023.3_5'Flank|USF1_ENST00000368020.1_Missense_Mutation_p.R196W|TSTD1_ENST00000368024.1_5'Flank|TSTD1_ENST00000466967.1_5'Flank|USF1_ENST00000368019.1_Missense_Mutation_p.R168W	NM_007122.3	NP_009053.1	P22415	USF1_HUMAN	upstream transcription factor 1	196					carbon catabolite regulation of transcription (GO:0045990)|cellular response to insulin stimulus (GO:0032869)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|late viral transcription (GO:0019086)|lipid homeostasis (GO:0055088)|negative regulation of fibrinolysis (GO:0051918)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter by glucose (GO:0000430)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TTCTCATCCCGAGTCGTCCGG	0.502																																						ENST00000368021.3																			0				central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(586-588)Cgg>Tgg		upstream transcription factor 1							126.0	121.0	123.0					1																	161010637		2203	4300	6503	SO:0001583	missense	7391				cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to hypoxia|response to UV	transcription factor complex	bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr1:161010637G>A	BC035505	CCDS1214.1	1q22-q23	2013-05-21			ENSG00000158773	ENSG00000158773		"""Basic helix-loop-helix proteins"""	12593	protein-coding gene	gene with protein product		191523				8486371	Standard	NM_007122		Approved	UEF, MLTFI, bHLHb11	uc031pqv.1	P22415	OTTHUMG00000031472	ENST00000368021.3:c.586C>T	1.37:g.161010637G>A	ENSP00000357000:p.Arg196Trp					USF1_ENST00000435396.1_Missense_Mutation_p.R137W|USF1_ENST00000368019.1_Missense_Mutation_p.R168W|USF1_ENST00000368020.1_Missense_Mutation_p.R196W	p.R196W	NM_007122.3	NP_009053.1	P22415	USF1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00122)		8	790	-	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		196					B2RBZ4|Q5SY46|Q7Z5Y1	Missense_Mutation	SNP	ENST00000368021.3	37	c.586C>T	CCDS1214.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.48|17.48	3.401106|3.401106	0.62288|0.62288	.|.	.|.	ENSG00000158773|ENSG00000158773	ENST00000368020;ENST00000368021;ENST00000435396;ENST00000368019;ENST00000531842|ENST00000528768	D;D;D;D;D|.	0.97642|.	-4.47;-4.47;-4.47;-4.47;-4.47|.	5.03|5.03	4.08|4.08	0.47627|0.47627	.|.	0.052744|.	0.64402|.	N|.	0.000001|.	T|T	0.52917|0.52917	0.1764|0.1764	M|M	0.67700|0.67700	2.07|2.07	0.58432|0.58432	D|D	0.999993|0.999993	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|T	0.55179|0.55179	-0.8181|-0.8181	10|5	0.87932|.	D|.	0|.	-20.6883|-20.6883	10.233|10.233	0.43266|0.43266	0.0:0.0:0.6386:0.3614|0.0:0.0:0.6386:0.3614	.|.	196|.	P22415|.	USF1_HUMAN|.	W|L	196;196;137;168;135|62	ENSP00000356999:R196W;ENSP00000357000:R196W;ENSP00000390109:R137W;ENSP00000356998:R168W;ENSP00000435005:R135W|.	ENSP00000356998:R168W|.	R|S	-|-	1|2	2|0	USF1|USF1	159277261|159277261	1.000000|1.000000	0.71417|0.71417	0.925000|0.925000	0.36789|0.36789	0.957000|0.957000	0.61999|0.61999	2.715000|2.715000	0.47210|0.47210	1.288000|1.288000	0.44600|0.44600	0.555000|0.555000	0.69702|0.69702	CGG|TCG		0.502	USF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077050.1	NM_007122		25	49	0	0	0	1	0	25	49				
TTN	7273	broad.mit.edu	37	2	179545893	179545893	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr2:179545893C>T	ENST00000591111.1	-	136	32526	c.32302G>A	c.(32302-32304)Gaa>Aaa	p.E10768K	TTN_ENST00000589042.1_Missense_Mutation_p.E11085K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E9841K|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.|Pro-rich.				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)			TTTGGTTCTTCAGGCACTTTA	0.308																																						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.(33253-33255)Gaa>Aaa		titin							59.0	54.0	56.0					2																	179545893		1789	4058	5847	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179545893C>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.32302G>A	2.37:g.179545893C>T	ENSP00000465570:p.Glu10768Lys					TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E9841K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E10768K|TTN-AS1_ENST00000431752.1_RNA	p.E11085K	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)		138	33477	-			10768			Glu-rich.|Pro-rich.		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.33253G>A		.	.	.	.	.	.	.	.	.	.	C	18.33	3.599950	0.66332	.	.	ENSG00000155657	ENST00000342992	T	0.75154	-0.91	5.92	5.92	0.95590	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.81375	0.4809	M	0.63843	1.955	0.80722	D	1	P	0.50819	0.939	P	0.51453	0.67	T	0.82394	-0.0479	9	0.87932	D	0	.	20.3343	0.98733	0.0:1.0:0.0:0.0	.	10768	Q8WZ42	TITIN_HUMAN	K	9841	ENSP00000343764:E9841K	ENSP00000343764:E9841K	E	-	1	0	TTN	179254138	0.686000	0.27661	0.997000	0.53966	0.996000	0.88848	3.531000	0.53546	2.822000	0.97130	0.650000	0.86243	GAA		0.308	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		18	42	0	0	0	1	0	18	42				
CHRNB3	1142	broad.mit.edu	37	8	42586979	42586979	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr8:42586979G>A	ENST00000289957.2	+	5	657	c.529G>A	c.(529-531)Gat>Aat	p.D177N		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	177					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|drug binding (GO:0008144)			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)	CTGGACTTATGATGGCACCAT	0.478																																						ENST00000289957.2																			0				endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25						c.(529-531)Gat>Aat		cholinergic receptor, nicotinic, beta 3 (neuronal)							72.0	60.0	64.0					8																	42586979		2203	4300	6503	SO:0001583	missense	1142				synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	g.chr8:42586979G>A	U62438	CCDS6134.1	8p11.21	2012-02-11	2012-02-07		ENSG00000147432	ENSG00000147432		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 3 (neuronal)"""	118508	"""cholinergic receptor, nicotinic, beta polypeptide 3"""			1505988	Standard	NM_000749		Approved		uc003xpi.1	Q05901	OTTHUMG00000165262	ENST00000289957.2:c.529G>A	8.37:g.42586979G>A	ENSP00000289957:p.Asp177Asn						p.D177N	NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		5	657	+	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	177					Q15827	Missense_Mutation	SNP	ENST00000289957.2	37	c.529G>A	CCDS6134.1	.	.	.	.	.	.	.	.	.	.	g	22.2	4.263982	0.80358	.	.	ENSG00000147432	ENST00000289957	T	0.77358	-1.09	5.58	5.58	0.84498	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.85932	0.5812	L	0.52823	1.66	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.83076	-0.0140	10	0.31617	T	0.26	.	19.6328	0.95718	0.0:0.0:1.0:0.0	.	177	Q05901	ACHB3_HUMAN	N	177	ENSP00000289957:D177N	ENSP00000289957:D177N	D	+	1	0	CHRNB3	42706136	1.000000	0.71417	0.583000	0.28640	0.502000	0.33828	9.869000	0.99810	2.637000	0.89404	0.650000	0.86243	GAT		0.478	CHRNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383055.1			19	60	0	0	0	1	0	19	60				
AARS	16	broad.mit.edu	37	16	70310999	70310999	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr16:70310999C>T	ENST00000261772.8	-	3	346	c.203G>A	c.(202-204)aGa>aAa	p.R68K	RN7SL279P_ENST00000582185.1_RNA	NM_001605.2	NP_001596.2			alanyl-tRNA synthetase											breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)		ATTGGCAGCTCTGCTCAGCTT	0.483																																						ENST00000261772.8																			0				breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27						c.(202-204)aGa>aAa		alanyl-tRNA synthetase	L-Alanine(DB00160)						126.0	112.0	117.0					16																	70310999		2198	4300	6498	SO:0001583	missense	16				alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr16:70310999C>T	D32050	CCDS32474.1	16q22.1	2014-09-17			ENSG00000090861	ENSG00000090861	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	20	protein-coding gene	gene with protein product	"""alanine tRNA ligase 1, cytoplasmic"""	601065				8595897	Standard	NM_001605		Approved		uc002eyn.1	P49588	OTTHUMG00000177042	ENST00000261772.8:c.203G>A	16.37:g.70310999C>T	ENSP00000261772:p.Arg68Lys						p.R68K	NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.161)	3	346	-		Ovarian(137;0.0365)	68						Missense_Mutation	SNP	ENST00000261772.8	37	c.203G>A	CCDS32474.1	.	.	.	.	.	.	.	.	.	.	C	36	5.825336	0.96996	.	.	ENSG00000090861	ENST00000261772	T	0.74947	-0.89	5.9	5.9	0.94986	Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89220	0.6653	M	0.91406	3.205	0.80722	D	1	D	0.71674	0.998	D	0.74023	0.982	D	0.90888	0.4759	10	0.87932	D	0	-18.9838	17.7564	0.88450	0.0:1.0:0.0:0.0	.	68	P49588	SYAC_HUMAN	K	68	ENSP00000261772:R68K	ENSP00000261772:R68K	R	-	2	0	AARS	68868500	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.802000	0.96397	0.650000	0.86243	AGA		0.483	AARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435021.2	NM_001605		24	55	0	0	0	1	0	24	55				
FAM47A	158724	broad.mit.edu	37	X	34149139	34149139	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chrX:34149139A>C	ENST00000346193.3	-	1	1308	c.1257T>G	c.(1255-1257)agT>agG	p.S419R		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	419										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TGGACACCTGACTAGTGTCGG	0.547																																						ENST00000346193.3																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						c.(1255-1257)agT>agG		family with sequence similarity 47, member A							39.0	41.0	40.0					X																	34149139		2187	4291	6478	SO:0001583	missense	158724							g.chrX:34149139A>C	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1257T>G	X.37:g.34149139A>C	ENSP00000345029:p.Ser419Arg						p.S419R	NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN			1	1308	-			419					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.1257T>G	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	a	3.571	-0.087649	0.07097	.	.	ENSG00000185448	ENST00000346193	T	0.13778	2.56	0.226	0.226	0.15353	.	.	.	.	.	T	0.03783	0.0107	N	0.01505	-0.83	0.09310	N	1	B	0.20988	0.05	B	0.15484	0.013	T	0.45920	-0.9228	8	0.13470	T	0.59	.	.	.	.	.	419	Q5JRC9	FA47A_HUMAN	R	419	ENSP00000345029:S419R	ENSP00000345029:S419R	S	-	3	2	FAM47A	34059060	0.008000	0.16893	0.009000	0.14445	0.009000	0.06853	0.069000	0.14552	0.240000	0.21263	0.237000	0.17872	AGT		0.547	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		19	39	0	0	0	1	0	19	39				
PNLIPRP3	119548	broad.mit.edu	37	10	118228716	118228716	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr10:118228716C>G	ENST00000369230.3	+	9	1093	c.947C>G	c.(946-948)tCc>tGc	p.S316C		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	316					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		TTCTTTTGTTCCAAAGAAGGT	0.313																																						ENST00000369230.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50						c.(946-948)tCc>tGc		pancreatic lipase-related protein 3							80.0	80.0	80.0					10																	118228716		2203	4299	6502	SO:0001583	missense	119548				lipid catabolic process	extracellular region	triglyceride lipase activity	g.chr10:118228716C>G	BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.947C>G	10.37:g.118228716C>G	ENSP00000358232:p.Ser316Cys						p.S316C	NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN		all cancers(201;0.0131)	9	1093	+			316						Missense_Mutation	SNP	ENST00000369230.3	37	c.947C>G	CCDS31292.1	.	.	.	.	.	.	.	.	.	.	C	9.241	1.038193	0.19669	.	.	ENSG00000203837	ENST00000369230	D	0.91351	-2.83	4.96	2.09	0.27110	Lipase, N-terminal (1);	0.000000	0.44902	D	0.000409	D	0.86756	0.6009	L	0.52905	1.665	0.09310	N	1	B	0.23650	0.089	B	0.28709	0.093	T	0.78912	-0.2017	10	0.87932	D	0	.	7.7048	0.28644	0.1355:0.7347:0.0:0.1299	.	316	Q17RR3	LIPR3_HUMAN	C	316	ENSP00000358232:S316C	ENSP00000358232:S316C	S	+	2	0	PNLIPRP3	118218706	0.837000	0.29446	0.001000	0.08648	0.574000	0.36063	1.606000	0.36826	0.280000	0.22209	0.591000	0.81541	TCC		0.313	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050520.1	XM_058404		8	68	0	0	0	1	0	8	68				
CDC37L1	55664	broad.mit.edu	37	9	4679816	4679816	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr9:4679816G>T	ENST00000381854.3	+	1	251	c.49G>T	c.(49-51)Gag>Tag	p.E17*	CDC37L1_ENST00000479095.1_3'UTR|CDC37L1_ENST00000381858.1_Nonsense_Mutation_p.E17*|RP11-6J24.6_ENST00000607997.1_lincRNA	NM_017913.2	NP_060383.2	Q7L3B6	CD37L_HUMAN	cell division cycle 37-like 1	17	Self-association.			E -> G (in Ref. 1; BAA91304). {ECO:0000305}.		cytoplasm (GO:0005737)				breast(1)|kidney(1)|lung(2)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0318)		CCCTCGGGCCGAGGGTGAGGC	0.697											OREG0019085	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000381854.3																			0				breast(1)|kidney(1)|lung(2)	4						c.(49-51)Gag>Tag		cell division cycle 37-like 1							33.0	38.0	36.0					9																	4679816		2203	4299	6502	SO:0001587	stop_gained	55664					cytoplasm		g.chr9:4679816G>T	AK000497	CCDS6454.1	9p24.1	2013-01-17	2013-01-17		ENSG00000106993	ENSG00000106993			17179	protein-coding gene	gene with protein product		610346	"""CDC37 cell division cycle 37 homolog (S. cerevisiae)-like 1"", ""cell division cycle 37 homolog (S. cerevisiae)-like 1"""				Standard	NM_017913		Approved	HARC, FLJ20639, CDC37B	uc003zio.3	Q7L3B6	OTTHUMG00000019465	ENST00000381854.3:c.49G>T	9.37:g.4679816G>T	ENSP00000371278:p.Glu17*		OREG0019085	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	620	CDC37L1_ENST00000479095.1_3'UTR|CDC37L1_ENST00000381858.1_Nonsense_Mutation_p.E17*	p.E17*	NM_017913.2	NP_060383.2	Q7L3B6	CD37L_HUMAN		GBM - Glioblastoma multiforme(50;0.0318)	1	251	+	all_hematologic(13;0.137)	Breast(48;0.238)	17	E -> G (in Ref. 1; BAA91304).		Self-association.		B1AL70|Q9NWS3|Q9NX16	Nonsense_Mutation	SNP	ENST00000381854.3	37	c.49G>T	CCDS6454.1	.	.	.	.	.	.	.	.	.	.	G	38	7.151354	0.98099	.	.	ENSG00000106993	ENST00000381858;ENST00000381854	.	.	.	5.01	4.1	0.47936	.	0.300406	0.28360	N	0.015639	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-17.738	11.2524	0.49034	0.0:0.1846:0.8154:0.0	.	.	.	.	X	17	.	ENSP00000371278:E17X	E	+	1	0	CDC37L1	4669816	0.798000	0.28890	0.136000	0.22124	0.948000	0.59901	2.498000	0.45363	1.322000	0.45245	-0.312000	0.09012	GAG		0.697	CDC37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051564.1	NM_017913		37	23	1	0	4.92203e-23	1	5.3216e-23	37	23				
CEL	1056	broad.mit.edu	37	9	135947076	135947076	+	Silent	SNP	T	T	C			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr9:135947076T>C	ENST00000372080.4	+	11	2212	c.2196T>C	c.(2194-2196)ggT>ggC	p.G732G	CEL_ENST00000351304.7_Silent_p.G663G	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	729	17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).				cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		CCCCCACGGGTGACTCTGAGG	0.677																																						ENST00000372080.4																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20						c.(2194-2196)ggT>ggC		carboxyl ester lipase							14.0	17.0	16.0					9																	135947076		1824	4049	5873	SO:0001819	synonymous_variant	1056				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity	g.chr9:135947076T>C	M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"""bile salt-stimulated lipase"""	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.2196T>C	9.37:g.135947076T>C						CEL_ENST00000351304.7_Silent_p.G663G	p.G732G	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)	11	2212	+			729			17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).		Q16398|Q5T7U7|Q9UCH1|Q9UP41	Silent	SNP	ENST00000372080.4	37	c.2196T>C	CCDS43896.1																																																																																				0.677	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054823.1			17	20	0	0	0	1	0	17	20				
PHKA2	5256	broad.mit.edu	37	X	18924674	18924674	+	Silent	SNP	G	G	C			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chrX:18924674G>C	ENST00000379942.4	-	25	3410	c.2745C>G	c.(2743-2745)ctC>ctG	p.L915L		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	915					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GTCCAATCCGGAGTCTCAGCA	0.597																																						ENST00000379942.4																			0				NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.(2743-2745)ctC>ctG		phosphorylase kinase, alpha 2 (liver)							103.0	93.0	96.0					X																	18924674		2203	4300	6503	SO:0001819	synonymous_variant	5256				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:18924674G>C		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.2745C>G	X.37:g.18924674G>C							p.L915L	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN			25	3410	-	Hepatocellular(33;0.183)		915					A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Silent	SNP	ENST00000379942.4	37	c.2745C>G	CCDS14190.1																																																																																				0.597	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292		35	142	0	0	0	1	0	35	142				
EIF2B4	8890	broad.mit.edu	37	2	27592008	27592008	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr2:27592008G>A	ENST00000347454.4	-	4	454	c.283C>T	c.(283-285)Cgg>Tgg	p.R95W	EIF2B4_ENST00000493344.2_Missense_Mutation_p.R116W|SNX17_ENST00000537606.1_5'Flank|AC074117.10_ENST00000412749.1_RNA|SNX17_ENST00000542478.1_5'Flank|SNX17_ENST00000233575.2_5'Flank|SNX17_ENST00000543024.1_5'Flank|EIF2B4_ENST00000445933.2_Missense_Mutation_p.R94W|EIF2B4_ENST00000451130.2_Missense_Mutation_p.R115W	NM_001034116.1|NM_015636.3	NP_001029288.1|NP_056451.3	Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa	95					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation (GO:0045947)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|regulation of translation (GO:0006417)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCTTACTCCGACCAGCTGGA	0.542																																						ENST00000493344.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1)	10						c.(346-348)Cgg>Tgg		eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa							71.0	70.0	70.0					2																	27592008		2203	4300	6503	SO:0001583	missense	8890				myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	translation initiation factor activity|translation initiation factor binding	g.chr2:27592008G>A	AJ011306	CCDS33164.1, CCDS46244.1, CCDS46245.1	2p23.3	2008-02-05	2002-08-29		ENSG00000115211	ENSG00000115211			3260	protein-coding gene	gene with protein product		606687	"""eukaryotic translation initiation factor 2B, subunit 4 (delta, 67kD)"""			8929216, 7982969	Standard	NM_172195		Approved	EIF2Bdelta, EIF-2B, DKFZP586J0119, EIF2B	uc002rjz.3	Q9UI10	OTTHUMG00000151927	ENST00000347454.4:c.283C>T	2.37:g.27592008G>A	ENSP00000233552:p.Arg95Trp					EIF2B4_ENST00000347454.4_Missense_Mutation_p.R95W|EIF2B4_ENST00000451130.2_Missense_Mutation_p.R115W|EIF2B4_ENST00000445933.2_Missense_Mutation_p.R94W	p.R116W			Q9UI10	EI2BD_HUMAN			3	658	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		95					Q53RY7|Q5BJF4|Q9BUV9|Q9UBG4|Q9UIQ9|Q9UJ95	Missense_Mutation	SNP	ENST00000347454.4	37	c.346C>T	CCDS33164.1	.	.	.	.	.	.	.	.	.	.	G	19.24	3.789279	0.70337	.	.	ENSG00000115211	ENST00000347454;ENST00000414437;ENST00000445933;ENST00000451130;ENST00000493344	T;D;D;T	0.94793	0.89;-3.52;-3.52;0.89	5.27	2.4	0.29515	.	0.104208	0.64402	D	0.000007	D	0.95859	0.8652	L	0.57536	1.79	0.36492	D	0.868475	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.991;1.0	D;D;D;P;D	0.76071	0.987;0.941;0.941;0.549;0.971	D	0.96351	0.9258	10	0.87932	D	0	-16.9056	12.3463	0.55122	0.0:0.0:0.4064:0.5936	.	88;92;94;95;115	Q59FC8;F5H6W1;Q9UI10-3;Q9UI10;Q9UI10-2	.;.;.;EI2BD_HUMAN;.	W	95;92;94;115;116	ENSP00000233552:R95W;ENSP00000394397:R94W;ENSP00000394869:R115W;ENSP00000429323:R116W	ENSP00000233552:R95W	R	-	1	2	EIF2B4	27445512	1.000000	0.71417	0.955000	0.39395	0.929000	0.56500	1.947000	0.40293	0.330000	0.23485	-0.310000	0.09108	CGG		0.542	EIF2B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324448.1			32	113	0	0	0	1	0	32	113				
TEKT4	150483	broad.mit.edu	37	2	95537573	95537573	+	Silent	SNP	G	G	A	rs112496617		TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr2:95537573G>A	ENST00000295201.4	+	1	386	c.249G>A	c.(247-249)acG>acA	p.T83T	AC097374.2_ENST00000568768.1_RNA|TEKT4_ENST00000427593.2_Silent_p.T83T	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	83			T -> M (in dbSNP:rs4854235).		cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CGCAGCGCACGCAGCAAGACT	0.697																																						ENST00000295201.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						c.(247-249)acG>acA		tektin 4							16.0	16.0	16.0					2																	95537573		2191	4279	6470	SO:0001819	synonymous_variant	150483				cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr2:95537573G>A	AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.249G>A	2.37:g.95537573G>A						TEKT4_ENST00000427593.2_Silent_p.T83T|AC097374.2_ENST00000568768.1_RNA	p.T83T	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN			1	386	+			83		T -> M (in dbSNP:rs4854235).				Silent	SNP	ENST00000295201.4	37	c.249G>A	CCDS2005.1																																																																																				0.697	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705		7	26	0	0	0	1	0	7	26				
ZFYVE16	9765	broad.mit.edu	37	5	79752783	79752783	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr5:79752783C>T	ENST00000338008.5	+	13	3995	c.3815C>T	c.(3814-3816)tCt>tTt	p.S1272F	ZFYVE16_ENST00000510158.1_Missense_Mutation_p.S1272F|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.S1272F	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	1272					BMP signaling pathway (GO:0030509)|endosomal transport (GO:0016197)|protein targeting to lysosome (GO:0006622)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|intracellular membrane-bounded organelle (GO:0043231)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein transporter activity (GO:0008565)			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		GTACTAAATTCTTCCAATGAG	0.338																																					Melanoma(150;1452 1854 16018 17851 37292)	ENST00000338008.5																			0				breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(3814-3816)tCt>tTt		zinc finger, FYVE domain containing 16							67.0	65.0	66.0					5																	79752783		2203	4300	6503	SO:0001583	missense	9765				BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity	g.chr5:79752783C>T	AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"""Zinc fingers, FYVE domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	20756	protein-coding gene	gene with protein product	"""endofin"", ""protein phosphatase 1, regulatory subunit 69"""	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.3815C>T	5.37:g.79752783C>T	ENSP00000337159:p.Ser1272Phe					ZFYVE16_ENST00000510158.1_Missense_Mutation_p.S1272F|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.S1272F	p.S1272F	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)	13	3995	+		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)	1272					O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	ENST00000338008.5	37	c.3815C>T	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.614083	0.66672	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.40476	1.03;1.03;1.03	5.77	5.77	0.91146	Domain of unknown function DUF3480 (1);	0.000000	0.56097	D	0.000025	T	0.61553	0.2356	L	0.56769	1.78	0.45930	D	0.998764	P;D	0.53619	0.916;0.961	P;D	0.64877	0.905;0.93	T	0.55897	-0.8068	10	0.40728	T	0.16	-4.4928	19.5769	0.95449	0.0:1.0:0.0:0.0	.	82;1272	B3KXA7;Q7Z3T8	.;ZFY16_HUMAN	F	1272	ENSP00000337159:S1272F;ENSP00000423663:S1272F;ENSP00000426848:S1272F	ENSP00000337159:S1272F	S	+	2	0	ZFYVE16	79788539	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.777000	0.55364	2.717000	0.92951	0.462000	0.41574	TCT		0.338	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	NM_014733		49	29	0	0	0	1	0	49	29				
PLCL1	5334	broad.mit.edu	37	2	198949998	198949998	+	Missense_Mutation	SNP	C	C	T	rs72556386	byFrequency	TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr2:198949998C>T	ENST00000428675.1	+	2	2155	c.1757C>T	c.(1756-1758)tCt>tTt	p.S586F	PLCL1_ENST00000437704.2_Missense_Mutation_p.S488F	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	586	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	AGGGAGCTCTCTGATTTGGTG	0.388																																						ENST00000428675.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(1756-1758)tCt>tTt		phospholipase C-like 1	Quinacrine(DB01103)						83.0	85.0	84.0					2																	198949998		2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198949998C>T	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.1757C>T	2.37:g.198949998C>T	ENSP00000402861:p.Ser586Phe					PLCL1_ENST00000437704.2_Missense_Mutation_p.S488F	p.S586F	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN			2	2155	+			586			PI-PLC Y-box.		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.1757C>T	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	C	17.57	3.421588	0.62622	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.71222	-0.55;-0.55	5.36	5.36	0.76844	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.000000	0.64402	D	0.000004	D	0.90380	0.6989	H	0.97365	3.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93277	0.6657	9	.	.	.	.	19.2914	0.94102	0.0:1.0:0.0:0.0	.	586;512	Q15111;B4DYZ4	PLCL1_HUMAN;.	F	586;488	ENSP00000402861:S586F;ENSP00000414138:S488F	.	S	+	2	0	PLCL1	198658243	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.641000	0.83368	2.793000	0.96121	0.561000	0.74099	TCT		0.388	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		19	68	0	0	0	1	0	19	68				
ATP2B2	491	broad.mit.edu	37	3	10384545	10384545	+	Silent	SNP	C	C	T	rs144283368		TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr3:10384545C>T	ENST00000352432.4	-	18	2877	c.2808G>A	c.(2806-2808)ctG>ctA	p.L936L	ATP2B2_ENST00000397077.1_Silent_p.L891L|ATP2B2_ENST00000383800.4_Silent_p.L891L|ATP2B2_ENST00000343816.4_Silent_p.L922L|ATP2B2_ENST00000360273.2_Silent_p.L936L			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	936					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						ACGGCTTCCTCAGCAGCAGGG	0.612																																					Ovarian(125;1619 1709 15675 19819 38835)	ENST00000397077.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						c.(2671-2673)ctG>ctA		ATPase, Ca++ transporting, plasma membrane 2							112.0	93.0	99.0					3																	10384545		2203	4300	6503	SO:0001819	synonymous_variant	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10384545C>T	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.2808G>A	3.37:g.10384545C>T						ATP2B2_ENST00000352432.4_Silent_p.L936L|ATP2B2_ENST00000343816.4_Silent_p.L922L|ATP2B2_ENST00000383800.4_Silent_p.L891L|ATP2B2_ENST00000360273.2_Silent_p.L936L	p.L891L			Q01814	AT2B2_HUMAN			18	3248	-			936					O00766|Q12994|Q16818	Silent	SNP	ENST00000352432.4	37	c.2673G>A	CCDS33701.1																																																																																				0.612	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		16	42	0	0	0	1	0	16	42				
HACE1	57531	broad.mit.edu	37	6	105178206	105178206	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr6:105178206G>A	ENST00000262903.4	-	23	2875	c.2599C>T	c.(2599-2601)Cca>Tca	p.P867S	HACE1_ENST00000517995.1_5'UTR|HACE1_ENST00000369125.2_Missense_Mutation_p.P652S	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	867	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		AAAAGATTTGGAGTATATGGC	0.358																																						ENST00000262903.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44						c.(2599-2601)Cca>Tca		HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1							117.0	104.0	108.0					6																	105178206		2203	4300	6503	SO:0001583	missense	57531				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity	g.chr6:105178206G>A	BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"""Ankyrin repeat domain containing"""	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.2599C>T	6.37:g.105178206G>A	ENSP00000262903:p.Pro867Ser					HACE1_ENST00000369125.2_Missense_Mutation_p.P652S|HACE1_ENST00000517995.1_5'UTR	p.P867S	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)	23	2875	-		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)	867			HECT.		A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Missense_Mutation	SNP	ENST00000262903.4	37	c.2599C>T	CCDS5050.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.402|3.402	-0.122091|-0.122091	0.06795|0.06795	.|.	.|.	ENSG00000085382|ENSG00000085382	ENST00000262903;ENST00000369125|ENST00000518503;ENST00000518402	T;T|.	0.56275|.	0.47;0.47|.	5.63|5.63	5.63|5.63	0.86233|0.86233	HECT (4);|.	0.214477|.	0.49916|.	D|.	0.000129|.	T|T	0.15869|0.15869	0.0382|0.0382	N|N	0.10874|0.10874	0.06|0.06	0.24171|0.24171	N|N	0.995622|0.995622	B;B;B;B|.	0.20887|.	0.049;0.0;0.002;0.005|.	B;B;B;B|.	0.31290|.	0.127;0.001;0.008;0.004|.	T|T	0.22730|0.22730	-1.0208|-1.0208	10|5	0.39692|.	T|.	0.17|.	.|.	16.1972|16.1972	0.82040|0.82040	0.0:0.1419:0.8581:0.0|0.0:0.1419:0.8581:0.0	.|.	652;356;867;520|.	E9PGP0;B4DFM6;Q8IYU2;Q8IYU2-3|.	.;.;HACE1_HUMAN;.|.	S|F	867;652|286;257	ENSP00000262903:P867S;ENSP00000358121:P652S|.	ENSP00000262903:P867S|.	P|S	-|-	1|2	0|0	HACE1|HACE1	105284899|105284899	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	3.285000|3.285000	0.51716|0.51716	2.654000|2.654000	0.90174|0.90174	0.655000|0.655000	0.94253|0.94253	CCA|TCC		0.358	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041643.2	XM_045095		18	50	0	0	0	1	0	18	50				
NCCRP1	342897	broad.mit.edu	37	19	39691054	39691054	+	Missense_Mutation	SNP	G	G	A	rs202154753		TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr19:39691054G>A	ENST00000339852.4	+	5	639	c.617G>A	c.(616-618)cGc>cAc	p.R206H		NM_001001414.1	NP_001001414.1	Q6ZVX7	FBX50_HUMAN	non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)	206	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.				positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						GCCGACCGCCGCACGGTCATT	0.682													G|||	1	0.000199681	0.0008	0.0	5008	,	,		12067	0.0		0.0	False		,,,				2504	0.0				Melanoma(107;1207 1556 14956 29427 52130)	ENST00000339852.4																			0				kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						c.(616-618)cGc>cAc		non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)							65.0	75.0	71.0					19																	39691054		2202	4299	6501	SO:0001583	missense	342897				protein catabolic process			g.chr19:39691054G>A	AK123941, BC067874	CCDS12529.1	19q13.2	2013-07-31	2008-11-19		ENSG00000188505	ENSG00000188505			33739	protein-coding gene	gene with protein product		615901					Standard	NM_001001414		Approved	LOC342897, NCCRP-1, FBXO50	uc002okq.1	Q6ZVX7		ENST00000339852.4:c.617G>A	19.37:g.39691054G>A	ENSP00000342137:p.Arg206His						p.R206H	NM_001001414.1	NP_001001414.1	Q6ZVX7	NCRP1_HUMAN			5	639	+			206			FBA.		Q6NVV5	Missense_Mutation	SNP	ENST00000339852.4	37	c.617G>A	CCDS12529.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	10.13	1.265831	0.23136	.	.	ENSG00000188505	ENST00000339852	T	0.30182	1.54	5.23	1.71	0.24356	Galactose-binding domain-like (1);F-box associated (FBA) domain (2);	0.455646	0.25450	N	0.030585	T	0.25344	0.0616	L	0.54323	1.7	0.31871	N	0.619753	B	0.19073	0.033	B	0.15484	0.013	T	0.16958	-1.0385	10	0.45353	T	0.12	-19.2568	7.3249	0.26549	0.3966:0.0:0.6034:0.0	.	206	Q6ZVX7	NCRP1_HUMAN	H	206	ENSP00000342137:R206H	ENSP00000342137:R206H	R	+	2	0	NCCRP1	44382894	0.070000	0.21116	0.962000	0.40283	0.138000	0.21146	0.140000	0.16056	0.505000	0.28104	0.561000	0.74099	CGC		0.682	NCCRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463829.1	NM_001001414		44	86	0	0	0	1	0	44	86				
ITGA2	3673	broad.mit.edu	37	5	52361766	52361766	+	Silent	SNP	C	C	T	rs144430073	byFrequency	TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr5:52361766C>T	ENST00000296585.5	+	15	2045	c.1902C>T	c.(1900-1902)acC>acT	p.T634T		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	634					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				ATTCCATCACCGATGTGTCTA	0.448													C|||	2	0.000399361	0.0015	0.0	5008	,	,		15715	0.0		0.0	False		,,,				2504	0.0					ENST00000296585.5																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(1900-1902)acC>acT		integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)		C		2,4404	4.2+/-10.8	0,2,2201	159.0	148.0	152.0		1902	-10.6	0.1	5	dbSNP_134	152	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ITGA2	NM_002203.3		0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231		634/1182	52361766	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	3673				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	g.chr5:52361766C>T		CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"""CD molecules"", ""Integrins"""	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.1902C>T	5.37:g.52361766C>T							p.T634T	NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN			15	2045	+		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)	634					Q14595	Silent	SNP	ENST00000296585.5	37	c.1902C>T	CCDS3957.1																																																																																				0.448	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203		81	50	0	0	0	1	0	81	50				
RAB11B	9230	broad.mit.edu	37	19	8464939	8464939	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr19:8464939C>T	ENST00000328024.6	+	2	451	c.233C>T	c.(232-234)tCc>tTc	p.S78F	RAB11B_ENST00000594216.1_Missense_Mutation_p.S78F|RAB11B_ENST00000601897.1_Intron	NM_004218.3	NP_004209.2	Q15907	RB11B_HUMAN	RAB11B, member RAS oncogene family	78					cellular response to acidic pH (GO:0071468)|constitutive secretory pathway (GO:0045054)|establishment of protein localization to membrane (GO:0090150)|GTP catabolic process (GO:0006184)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|melanosome transport (GO:0032402)|receptor recycling (GO:0001881)|regulated secretory pathway (GO:0045055)|regulation of anion transport (GO:0044070)|regulation of endocytic recycling (GO:2001135)|regulation of protein localization to cell surface (GO:2000008)|retrograde transport, endosome to plasma membrane (GO:1990126)|small GTPase mediated signal transduction (GO:0007264)|transferrin transport (GO:0033572)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|phagocytic vesicle (GO:0045335)|recycling endosome (GO:0055037)|recycling endosome membrane (GO:0055038)|synaptic vesicle (GO:0008021)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			large_intestine(2)|lung(1)|ovary(1)	4						GCCATCACCTCCGCGTGCGTG	0.672																																						ENST00000328024.6																			0				large_intestine(2)|lung(1)|ovary(1)	4						c.(232-234)tCc>tTc		RAB11B, member RAS oncogene family							51.0	48.0	49.0					19																	8464939		2203	4299	6502	SO:0001583	missense	9230				cell cycle|protein transport|small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity	g.chr19:8464939C>T	X79780	CCDS12201.1	19p13.2	2012-07-02			ENSG00000185236	ENSG00000185236		"""RAB, member RAS oncogene"""	9761	protein-coding gene	gene with protein product		604198				7811277	Standard	NM_004218		Approved	H-YPT3	uc002mju.4	Q15907		ENST00000328024.6:c.233C>T	19.37:g.8464939C>T	ENSP00000333547:p.Ser78Phe					RAB11B_ENST00000601897.1_Intron|RAB11B_ENST00000594216.1_Missense_Mutation_p.S78F	p.S78F	NM_004218.3	NP_004209.2	Q15907	RB11B_HUMAN			2	451	+			78					A5YM50|B2R7I4|B4DMK0|D6W671|Q2YDT2|Q5U0I1|Q6FHR0|Q6FI42|Q8NI07	Missense_Mutation	SNP	ENST00000328024.6	37	c.233C>T	CCDS12201.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.727429	0.89390	.	.	ENSG00000185236	ENST00000328024	T	0.78246	-1.16	4.23	4.23	0.50019	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.88555	0.6468	M	0.85777	2.775	0.80722	D	1	D;D	0.69078	0.986;0.997	D;D	0.72982	0.979;0.952	D	0.90706	0.4624	10	0.87932	D	0	.	15.6927	0.77466	0.0:1.0:0.0:0.0	rs35262664	78;78	B4DMK0;Q15907	.;RB11B_HUMAN	F	78	ENSP00000333547:S78F	ENSP00000333547:S78F	S	+	2	0	RAB11B	8370939	1.000000	0.71417	0.934000	0.37439	0.942000	0.58702	7.651000	0.83577	2.341000	0.79615	0.462000	0.41574	TCC		0.672	RAB11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460343.2	NM_004218		12	35	0	0	0	1	0	12	35				
RBM12	10137	broad.mit.edu	37	20	34240936	34240936	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr20:34240936G>A	ENST00000374114.3	-	3	2572	c.2309C>T	c.(2308-2310)cCg>cTg	p.P770L	CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000352393.4_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.P770L|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000317619.3_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.P770L|CPNE1_ENST00000397446.1_Intron|RP1-309K20.6_ENST00000541176.2_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	770	Gly-rich.|Pro-rich.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			TCCAAAACCCGGAACATCCAG	0.557																																						ENST00000374114.3																			0				breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(2308-2310)cCg>cTg		RNA binding motif protein 12							63.0	68.0	66.0					20																	34240936		2201	4299	6500	SO:0001583	missense	10137					nucleus	nucleotide binding|protein binding|RNA binding	g.chr20:34240936G>A	AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"""RNA binding motif (RRM) containing"""	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.2309C>T	20.37:g.34240936G>A	ENSP00000363228:p.Pro770Leu					RBM12_ENST00000359646.1_Missense_Mutation_p.P770L|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397445.1_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.P770L|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397443.1_Intron	p.P770L	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00953)		3	2572	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		770			Gly-rich.|Pro-rich.		B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Missense_Mutation	SNP	ENST00000374114.3	37	c.2309C>T	CCDS13261.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.836004	0.32421	.	.	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000349942	T;T;T	0.15487	2.42;2.42;2.42	5.27	4.27	0.50696	.	0.070065	0.56097	D	0.000021	T	0.11922	0.0290	N	0.24115	0.695	0.80722	D	1	P	0.36768	0.569	B	0.32149	0.141	T	0.08411	-1.0723	10	0.59425	D	0.04	-4.5613	14.5726	0.68220	0.0:0.0:0.7776:0.2224	.	770	Q9NTZ6	RBM12_HUMAN	L	770;770;770;569	ENSP00000363228:P770L;ENSP00000352668:P770L;ENSP00000363217:P770L	ENSP00000339879:P569L	P	-	2	0	RBM12	33704350	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.609000	0.54117	2.737000	0.93849	0.563000	0.77884	CCG		0.557	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	NM_006047		29	104	0	0	0	1	0	29	104				
RPS6KA4	8986	broad.mit.edu	37	11	64138162	64138162	+	Silent	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr11:64138162G>A	ENST00000334205.4	+	16	2150	c.2085G>A	c.(2083-2085)ggG>ggA	p.G695G	RPS6KA4_ENST00000294261.4_Silent_p.G447G|RPS6KA4_ENST00000528057.1_Silent_p.G688G|MIR1237_ENST00000408346.1_RNA	NM_003942.2	NP_003933.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	695					axon guidance (GO:0007411)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|negative regulation of cytokine production (GO:0001818)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|mitogen-activated protein kinase p38 binding (GO:0048273)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						AGTCCTCTGGGCCCGCAGTGC	0.706																																						ENST00000528057.1																			0				breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						c.(2062-2064)ggG>ggA		ribosomal protein S6 kinase, 90kDa, polypeptide 4							14.0	14.0	14.0					11																	64138162		2184	4253	6437	SO:0001819	synonymous_variant	8986				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity	g.chr11:64138162G>A	AJ010119	CCDS8073.1, CCDS73313.1	11q11-q13	2011-04-05	2002-08-29		ENSG00000162302	ENSG00000162302			10433	protein-coding gene	gene with protein product		603606	"""ribosomal protein S6 kinase, 90kD, polypeptide 4"""			9792677, 9687510	Standard	XM_005274379		Approved	RSK-B, MSK2	uc001oae.3	O75676	OTTHUMG00000046094	ENST00000334205.4:c.2085G>A	11.37:g.64138162G>A						RPS6KA4_ENST00000294261.4_Silent_p.G447G|RPS6KA4_ENST00000334205.4_Silent_p.G695G	p.G688G	NM_001006944.1	NP_001006945.1	O75676	KS6A4_HUMAN			16	2152	+			695					A8K7Z8|O75585|Q53ES8	Silent	SNP	ENST00000334205.4	37	c.2064G>A	CCDS8073.1																																																																																				0.706	RPS6KA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106246.2	NM_003942		6	7	0	0	0	1	0	6	7				
DLG2	1740	broad.mit.edu	37	11	83770409	83770409	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr11:83770409G>A	ENST00000532653.1	-	6	855	c.553C>T	c.(553-555)Cga>Tga	p.R185*	DLG2_ENST00000398309.2_Nonsense_Mutation_p.R185*|DLG2_ENST00000543673.1_Nonsense_Mutation_p.R290*|DLG2_ENST00000524982.1_Nonsense_Mutation_p.R185*|DLG2_ENST00000537455.1_De_novo_Start_OutOfFrame|DLG2_ENST00000376106.3_De_novo_Start_OutOfFrame|DLG2_ENST00000330014.6_Nonsense_Mutation_p.R124*|DLG2_ENST00000418306.2_Nonsense_Mutation_p.R134*|DLG2_ENST00000531015.1_Nonsense_Mutation_p.R152*|DLG2_ENST00000398301.2_Nonsense_Mutation_p.R224*|DLG2_ENST00000376104.2_Nonsense_Mutation_p.R290*|DLG2_ENST00000280241.8_Nonsense_Mutation_p.R224*			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				AAAATAGGTCGTCTTCTACGC	0.463																																						ENST00000398309.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(553-555)Cga>Tga		discs, large homolog 2 (Drosophila)							145.0	134.0	138.0					11																	83770409		1924	4140	6064	SO:0001587	stop_gained	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	g.chr11:83770409G>A	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.553C>T	11.37:g.83770409G>A	ENSP00000435849:p.Arg185*					DLG2_ENST00000376104.2_Nonsense_Mutation_p.R290*|DLG2_ENST00000330014.6_Nonsense_Mutation_p.R124*|DLG2_ENST00000280241.8_Nonsense_Mutation_p.R224*|DLG2_ENST00000532653.1_Nonsense_Mutation_p.R185*|DLG2_ENST00000524982.1_Nonsense_Mutation_p.R185*|DLG2_ENST00000531015.1_Nonsense_Mutation_p.R152*|DLG2_ENST00000418306.2_Nonsense_Mutation_p.R134*|DLG2_ENST00000398301.2_Nonsense_Mutation_p.R224*|DLG2_ENST00000376106.3_De_novo_Start_OutOfFrame|DLG2_ENST00000543673.1_Nonsense_Mutation_p.R290*|DLG2_ENST00000537455.1_De_novo_Start_OutOfFrame	p.R185*	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN			6	1023	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	185					B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Nonsense_Mutation	SNP	ENST00000532653.1	37	c.553C>T		.	.	.	.	.	.	.	.	.	.	G	23.7	4.441606	0.83993	.	.	ENSG00000150672	ENST00000398309;ENST00000376104;ENST00000418306;ENST00000543673;ENST00000280241;ENST00000330014;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000531015;ENST00000398301;ENST00000398299	.	.	.	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0534	0.53520	0.0:0.0:0.7063:0.2937	.	.	.	.	X	185;290;134;290;224;124;185;185;290;152;224;102	.	.	R	-	1	2	DLG2	83448057	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.588000	0.53964	2.438000	0.82558	0.467000	0.42956	CGA		0.463	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364		16	64	0	0	0	1	0	16	64				
AUNIP	79000	broad.mit.edu	37	1	26186960	26186960	+	5'Flank	DEL	T	T	-			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr1:26186960delT	ENST00000374298.3	-	0	0				AUNIP_ENST00000538789.1_5'Flank|RP1-125I3.2_ENST00000455431.1_RNA	NM_024037.1	NP_076942.1	Q9H7T9	AUNIP_HUMAN	aurora kinase A and ninein interacting protein						spindle organization (GO:0007051)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)											AATTTTGTAATTTTTTTTTTT	0.552																																						ENST00000455431.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr1:26186960delT		CCDS266.1, CCDS72731.1	1p36.11	2012-08-07	2012-08-07	2012-08-07	ENSG00000127423	ENSG00000127423			28363	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 135"""	C1orf135		20596670	Standard	NM_001287490		Approved	MGC2603, AIBp	uc001bkw.1	Q9H7T9	OTTHUMG00000007372		1.37:g.26186960delT	Exception_encountered													0	263	+								C9EI59|Q53F70	RNA	DEL	ENST00000374298.3	37		CCDS266.1																																																																																				0.552	AUNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019309.2	NM_024037		3	2						3	2	---	---	---	---
TSGA10	80705	broad.mit.edu	37	2	99697797	99697797	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr2:99697797delT	ENST00000393483.3	-	11	1519	c.675delA	c.(673-675)aaafs	p.K225fs	TSGA10_ENST00000410001.1_Frame_Shift_Del_p.K225fs|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000542655.1_Frame_Shift_Del_p.K225fs|TSGA10_ENST00000539964.1_Frame_Shift_Del_p.K225fs|TSGA10_ENST00000355053.4_Frame_Shift_Del_p.K225fs	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	225					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						GTAGCTCATATTTTTTCTTAG	0.279																																						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.(673-675)aafs		testis specific, 10							65.0	69.0	67.0					2																	99697797		2201	4288	6489	SO:0001589	frameshift_variant	80705				spermatogenesis	cytoplasm|nuclear membrane		g.chr2:99697797delT	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.675delA	2.37:g.99697797delT	ENSP00000377123:p.Lys225fs					TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000542655.1_Frame_Shift_Del_p.K225fs|TSGA10_ENST00000410001.1_Frame_Shift_Del_p.K225fs|TSGA10_ENST00000539964.1_Frame_Shift_Del_p.K225fs|TSGA10_ENST00000355053.4_Frame_Shift_Del_p.K225fs	p.K225fs	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN			11	1519	-			225					B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Frame_Shift_Del	DEL	ENST00000393483.3	37	c.675delA	CCDS2037.1																																																																																				0.279	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253125.1	NM_182911		22	61						22	61	---	---	---	---
STAG3L2	442582	broad.mit.edu	37	7	74300804	74300804	+	RNA	DEL	A	A	-			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr7:74300804delA	ENST00000423186.1	-	0	499							P0CL84	ST3L2_HUMAN	stromal antigen 3-like 2 (pseudogene)							nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						CTTCATACTTAAAAAAAAAAA	0.458																																						ENST00000423186.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5																																														442582					nucleus	binding	g.chr7:74300804delA			7q11.23	2013-06-26	2013-06-26			ENSG00000277072			33886	pseudogene	pseudogene			"""stromal antigen 3-like 2"""				Standard	NR_040584		Approved	MGC131759, STAG3L2P	uc011kfj.2	P0CL84	OTTHUMG00000156216		7.37:g.74300804delA										P0CL84	ST3L2_HUMAN			0	499	-								A6NMT8|A8K0A1|Q32NE4|Q6NXR2|Q7L5M5|Q7Z5K6	RNA	DEL	ENST00000423186.1	37																																																																																						0.458	STAG3L2-002	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000343523.2	NM_001025202		2	4						2	4	---	---	---	---
RPL34P33	730061	broad.mit.edu	37	19	22882448	22882449	+	RNA	INS	-	-	A			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chr19:22882448_22882449insA	ENST00000601860.1	-	0	340				CTC-457E21.9_ENST00000597533.1_RNA																							TTGAGGAGCAGAAAATCGTTGT	0.396																																						ENST00000601860.1																			0																																																			730061							g.chr19:22882448_22882449insA																													19.37:g.22882452_22882452dupA						CTC-457E21.9_ENST00000597533.1_RNA								0	340	-									RNA	INS	ENST00000601860.1	37																																																																																						0.396	CTC-457E21.9-001	KNOWN	basic	antisense	antisense	OTTHUMT00000464586.1			8	28						8	28	---	---	---	---
HUWE1	10075	broad.mit.edu	37	X	53562382	53562384	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-CV-A463-01A-11D-A25Y-08	TCGA-CV-A463-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b408a5d-6fdb-4b3c-88e8-c7c1d98a90a5	1d44f50d-773d-45f4-83df-fb6567a2bcdb	g.chrX:53562382_53562384delCTT	ENST00000342160.3	-	80	13067_13069	c.12610_12612delAAG	c.(12610-12612)aagdel	p.K4204del	HUWE1_ENST00000262854.6_In_Frame_Del_p.K4204del			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4204	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.K4094del(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GTACATACTCCTTCTTATTCTCC	0.438																																						ENST00000342160.3																			1	Deletion - In frame(1)	p.K4094del(1)	large_intestine(1)	NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(12610-12612)del		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase																																				SO:0001651	inframe_deletion	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53562382_53562384delCTT	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.12610_12612delAAG	X.37:g.53562385_53562387delCTT	ENSP00000340648:p.Lys4204del					HUWE1_ENST00000262854.6_In_Frame_Del_p.K4204del	p.K4204del			Q7Z6Z7	HUWE1_HUMAN			80	13067_13069	-			4204			HECT.		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	In_Frame_Del	DEL	ENST00000342160.3	37	c.12610_12612delAAG	CCDS35301.1																																																																																				0.438	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		25	57						25	57	---	---	---	---
